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Relevance to Autism

CAPRIN1 interacts with Fragile X Mental Retardation Protein (FMRP) at the level of the translation machinery as well as in trafficking neuronal granules (El Fatimay et al., 2012). A de novo nonsense variant in CAPRIN1 was identified in a male ASD proband (Jiang et al., 2013).

Molecular Function

May regulate the transport and translation of mRNAs of proteins involved in synaptic plasticity in neurons and cell proliferation and migration in multiple cell types. In neuronal cells, directly binds to several mRNAs associated with RNA granules, including BDNF, CAMK2A, CREB1, MAP2, NTRK2 mRNAs, as well as to GRIN1 and KPNB1 mRNAs, but not to rRNAs .

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
ASD
Support
Comprehensive behavioral analysis of RNG105 (Caprin1) heterozygous mice: Reduced social interaction and attenuated response to novelty.
Recent Recommendation
Fragile X mental retardation protein interacts with the RNA-binding protein Caprin1 in neuronal RiboNucleoProtein complexes [corrected].

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN555R001 
 stop_gained 
 c.1195C>T 
 p.Gln399Ter 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 25
 
11
Deletion
 2
 
11
Deletion-Duplication
 2
 
11
Deletion
 1
 
11
Deletion
 3
 
11
Deletion
 4
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 2
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 1
 

Model Summary

RNG105 deficient mice display deficits in social interactions and responses to social novelty.

References

Type
Title
Author, Year
Primary
Comprehensive behavioral analysis of RNG105 (Caprin1) heterozygous mice: Reduced social interaction and attenuated response to novelty.

M_Caprin1_1_KO_HM

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Gene-targeting construct was generated from an Caprin1 gene cloned from a 129Sv genomic library; targeted allele contained a deletion of the Caprin1 exon 1;.
Allele Type: Targeted
Strain of Origin: C57BL/6J
Genetic Background: C57BL/6
ES Cell Line: IT2
Mutant ES Cell Line: IT2
Model Source: Tokunaga Laboratory (PMID 20861386)

M_Caprin1_1_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Gene-targeting construct was generated from an Caprin1 gene cloned from a 129Sv genomic library; targeted allele contained a deletion of the Caprin1 exon 1;.
Allele Type: Targeted
Strain of Origin: C57BL/6J
Genetic Background: C57BL/6
ES Cell Line: IT2
Mutant ES Cell Line: IT2
Model Source: Tokunaga Laboratory (PMID 20861386)

M_Caprin1_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neuroreceptor levels: glutamate receptors: AMPA receptors1
Decreased
Description: Caprin1 homozygous null mutant neurons showed a larger decrease in dendritic surface GluR1 and quantification revealed that the ratio of surface/total GluR1 puncta number in dendrites was significantly reduced in the null mutant neurons compared to wildtype ; ratio of surface/total GluR1 appeared to be decreased dose-dependently on Caprin1 deficiency, which suggests that even heterozygous knockout of Caprin1 impairs the cell surface distribution of AMPARs
Exp Paradigm: Surface expression of AMPAR subunit GluR1 was detected by immunostaining of live cultured primary neurons from cerebral cortexes of wild-type and Caprin1 null mice; Caprin1 deficiency reduced the cell surface distribution of AMPARs in dendrites; Dissociated cerebral cortical neurons were prepared at E17.5
 Immunostaining
 E17.5
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

M_Caprin1_1_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Gait1
Decreased
Description: Reduced stride length in mutant compared to wt mice
Exp Paradigm: Males only
 General observations
 3.8 months
Clasping reflex1
Increased
Description: Increased limb-clasping relexes in the mutant compared to wt
Exp Paradigm: Males only
 Tail suspension test
 8 months
Pain or nociception1
Decreased
Description: Reduced latency to withdraw paw, compared control levels
Exp Paradigm: Hot plate test;
 Hot plate test
 3.1 months
Social habituation1
Decreased
Description: Wild-type mice spent a significantly longer time around the cage with a stranger mouse than with a familiar mouse, but the mutant mice spent an equivalent amount of time between the two cages; social interaction with a novel mouse was normal, but that there was a lack of preference for a novel mouse over a familiar mouse in the mutant mice;
Exp Paradigm: In the second session, another unfamiliar mouse (stranger 2) was placed in the cage that had been empty during the first session; The test mouse was then placed in the middle chamber and allowed to explore for 10 min;
 Habituation-dishabituation test
 4.2 months
Passive social behavior1
Decreased
Description: Although the social interaction, which was judged by the mean number of particles, of the Caprin1+/ mice during the day was comparable to that of the wild-type mice, the social interaction of the Caprin1+/ mice was significantly less than wild-type mice during the night; social interaction of familiar mice during an active period was reduced in the Caprin1+/ mice;
Exp Paradigm: Home cage behaviorl
 Reciprocal social interaction test
 15.2 moths
Response to novelty1
Decreased
Description: For the novel object recogntion task, in the first session, both wild-type and Caprin1+/ mice spent similar times around a novel object side and the alternative empty side; in the second session, wild-type mice spent a longer time around a novel object than a familiar object, whereas Caprin1+/ mice spent almost the same amount of time between the novel and familiar objects; For the novel place recognition task, wild-type mice showed a reduction in motility on day 2 when they were put into the same combinations of chambers but did not show a reduction in motility on day 2 when they were put into different combinations of chambers ; Caprin1+/ mice showed significantly lower motility on day 2 than day 1 in both the same combinations and different combinations
Exp Paradigm: Objects of four types, a black sphere, a black cone, a column with vertical stripes and a cube with black dots, were used in the novel object reginition test; In the novel place regogtition test, mice were put into a novel circle-type or square-type chamber to learn the place pattern on day 1; on day 2, the mice were put into the same chamber (same combination) or another chamber (different combination) to test adaptation for the chamber ; monitored mouse motility, reduction of which suggests adaptation to a place;- Novel object recognition test
 Novel object recognition test
 10 months
Response to novelty1
Decreased
Description: For the novel object recogntion task, in the first session, both wild-type and Caprin1+/ mice spent similar times around a novel object side and the alternative empty side; in the second session, wild-type mice spent a longer time around a novel object than a familiar object, whereas Caprin1+/ mice spent almost the same amount of time between the novel and familiar objects; For the novel place recognition task, wild-type mice showed a reduction in motility on day 2 when they were put into the same combinations of chambers but did not show a reduction in motility on day 2 when they were put into different combinations of chambers ; Caprin1+/ mice showed significantly lower motility on day 2 than day 1 in both the same combinations and different combinations
Exp Paradigm: Objects of four types, a black sphere, a black cone, a column with vertical stripes and a cube with black dots, were used in the novel object reginition test; In the novel place regogtition test, mice were put into a novel circle-type or square-type chamber to learn the place pattern on day 1; on day 2, the mice were put into the same chamber (same combination) or another chamber (different combination) to test adaptation for the chamber ; monitored mouse motility, reduction of which suggests adaptation to a place;-Object-place recognition test
 Object-place recognition test
 10 months
Cognitive flexibility1
Decreased
Description: In Barnes maze test, no significant differences in the number of errors or distance to first reach the correct hole between wild-type and Caprin1+/ mice; Caprin1+/ mice showed longer latency than wild-type mice to first reach the correct hole in the reversal learning especially just after the position of the correct hole was changed; In T maze, correct responses to select the rewarded arm and the latency to finish the task were almost the same between mutant and wt; although Caprin1+/ mice traveled significantly less distance than wild-type mice to finish the task in the initial training period their travel distance became almost the same as the wild-type mice in the reversal training period
Exp Paradigm: Barnes maze test; T-maze test;-Barnes maze test
 Barnes maze test
 5.2 months
Cognitive flexibility1
Decreased
Description: In Barnes maze test, no significant differences in the number of errors or distance to first reach the correct hole between wild-type and Caprin1+/ mice; Caprin1+/ mice showed longer latency than wild-type mice to first reach the correct hole in the reversal learning especially just after the position of the correct hole was changed; In T maze, correct responses to select the rewarded arm and the latency to finish the task were almost the same between mutant and wt; although Caprin1+/ mice traveled significantly less distance than wild-type mice to finish the task in the initial training period their travel distance became almost the same as the wild-type mice in the reversal training period
Exp Paradigm: Barnes maze test; T-maze test;- T-maze test
 T-maze test
 5.2 months
Protein expression level evidence1
Decreased
Description: Caprin1 protein expression levels were reduced to 70-80% in the mutant mice compared to WT; In the brain, spinal nerve, liver and thymus Caprin1 protein, but not -tubulin, was reduced;
Exp Paradigm: Western blot;
 Western blot
 Adult
Gene expression1
Decreased
Description: Caprin1 mRNA expression levels were reduced to about 5060% in the mutant mice compared to WT
Exp Paradigm: Quantitative PCR (qRT-PCR);
 Quantitative PCR (qRT-PCR)
 Adult
Cued or contextual fear conditioning1
 No Change
 Forced swim test
 10 months
Spatial reference memory1
 No Change
 Barnes maze test
 5.2 months
Spatial working memory1
 No Change
 Water T-maze test
 5.2 months
Spatial working memory1
 No Change
 Barnes maze test
 5.2 months
General locomotor activity1
 No Change
 Accelerating rotarod test
 4.2 moths
General locomotor activity1
 No Change
 Light-dark exploration test: Light-dark exploration test
 4.2 moths
General locomotor activity1
 No Change
 Three-chamber social approach test
 4.2 moths
Grip strength1
 No Change
 Wire hang test
 3 months
Motor coordination and balance1
 No Change
 Balance beam test
 7.1 months
Neuroreceptor levels: glutamate receptors: AMPA receptors1
 No Change
 Immunostaining
 E17.5
Core body temperature1
 No Change
 Body temperature measurement
 2.4 months
Startle response: acoustic stimulus1
 No Change
 Prepulse inhibition
 2 months
Social approach1
 No Change
 Three-chamber social approach test
 4.2 months
Social interaction1
 No Change
 Novel cage test
 15.2 moths
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Homeostasis, Immune response, Maternal behavior, Neurophysiology, Repetitive behavior, Seizure


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
CUL3 cullin 3 8452 B7Z600 IP; MS; COMPASS
Bennett EJ , et al. 2010
FMR1 fragile X mental retardation 1 2332 G8JLE9 IP; LC-MS/MS
Li J , et al. 2016
G3BP1 GTPase activating protein (SH3 domain) binding protein 1 10146 Q13283 IP/WB
Kedersha N , et al. 2016

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