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Relevance to Autism

This gene was identified in an ASD whole-exome sequencing study and subsequent TADA (transmission and de novo association) analysis as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (De Rubeis et al., 2014).

Molecular Function

This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
ASD
Support
Three Brothers With Autism Carry a Stop-Gain Mutation in the HPA-Axis Gene NR3C2.
ASD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
ASD
Support
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Excess of rare, inherited truncating mutations in autism.
ASD
Support
Rare coding variants in ten genes confer substantial risk for schizophrenia
Schizophrenia
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Recent Recommendation
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
ASD
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN663R001 
 stop_gained 
 c.2453C>A 
 p.Ser818Ter 
 De novo 
  
 Simplex 
 GEN663R002 
 missense_variant 
 c.899C>G 
 p.Pro300Arg 
 De novo 
  
 Simplex 
 GEN663R003 
 missense_variant 
 c.2099C>T 
 p.Pro700Leu 
 Familial 
 Paternal 
 Simplex 
 GEN663R004 
 missense_variant 
 c.889G>T 
 p.Val297Leu 
 Familial 
 Maternal 
 Simplex 
 GEN663R005 
 frameshift_variant 
 TC>T 
  
 Unknown 
  
 Unknown 
 GEN663R006 
 missense_variant 
 c.2058G>A 
 p.Glu686= 
 Unknown 
  
 Unknown 
 GEN663R007 
 missense_variant 
 c.2233A>G 
 p.Ile745Val 
 Unknown 
  
 Unknown 
 GEN663R008 
 missense_variant 
 c.2093C>T 
 p.Pro698Leu 
 De novo 
  
 Simplex 
 GEN663R009 
 intergenic_variant 
  
  
 De novo 
  
 Simplex 
 GEN663R010 
 stop_gained 
 c.1609C>T 
 p.Arg537Ter 
 De novo 
  
  
 GEN663R011 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN663R012 
 frameshift_variant 
 c.2686del 
 p.Arg896GlyfsTer8 
 Familial 
 Maternal 
 Multiplex 
 GEN663R013 
 missense_variant 
 ENST00000610940:c.1397C>T 
  
 Familial 
 Paternal 
 Multiplex 
 GEN663R014 
 missense_variant 
 c.970A>G 
 p.Ser324Gly 
 De novo 
  
 Simplex 
 GEN663R015 
 intron_variant 
 c.2642-14T>C 
  
 De novo 
  
 Simplex 
 GEN663R016 
 stop_gained 
 G>A 
 p.Gln919Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN663R017 
 missense_variant 
 ENSG00000151623:ENST00000511528:exon7:c.G2666A:p.G889D,ENSG00000151623:ENST00000512865:exon7:c.G2303 
  
 De novo 
  
  
 GEN663R018 
 missense_variant 
 c.2543T>A 
 p.Leu848Gln 
 Unknown 
  
  
 GEN663R019 
 splice_site_variant 
 c.2800-2_2813delinsGACCA 
  
 De novo 
  
  
 GEN663R020 
 stop_gained 
 c.1954C>T 
 p.Arg652Ter 
 De novo 
  
  
 GEN663R021 
 frameshift_variant 
 c.867del 
 p.Asn289LysfsTer5 
 De novo 
  
  
 GEN663R022 
 splice_site_variant 
 c.2799+1G>A 
  
 Familial 
 Maternal 
  
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
4
Duplication
 1
 
4
Duplication
 1
 
4
Duplication
 1
 
4
Duplication
 1
 
4
Duplication
 1
 
4
Deletion
 1
 
4
Deletion-Duplication
 9
 
4
Duplication
 1
 
4
Duplication
 3
 

Model Summary

The mutant mice show impaired learning of the water-maze task and deficits in measures of working memory on the radial maze due to behavioral perseverance and stereotypy.

References

Type
Title
Author, Year
Primary
Loss of the limbic mineralocorticoid receptor impairs behavioral plasticity.
Additional
Mineralocorticoid receptors guide spatial and stimulus-response learning in mice.
Model Type: Genetic
Model Genotype: Homozygous flox; Heterozygous Cre
Mutation: Conditional deletion of exon 3 of the Nr3c2 gene using CamkII-cre, in excitatory neurons of the forebrain
Allele Type: Conditional loss-of-function
Strain of Origin: 129Ola x FVB/N
Genetic Background: C57Bl/6J
ES Cell Line: 129Ola
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: ambulatory activity2
Decreased
 Barnes maze test
 4 months, female
General locomotor activity: ambulatory activity1
Decreased
 Light-dark exploration test
 4-7 months
General locomotor activity: ambulatory activity1
Decreased
 Elevated zero maze test
 4-7 months
Hippocampal morphology1
Abnormal
 Histology
 4 months
Perseveration1
Increased
 Morris water maze test
 4-7 months
Perseveration1
Increased
 Eight-arm radial maze test
 4-7 months
Perseveration2
Increased
 Barnes maze test
 3 months, male
Rearing behavior2
Decreased
 Barnes maze test
 3 months, male
Exploratory activity: habituation2
Decreased
 Barnes maze test
 4 months, female
Exploratory activity1
Increased
 Novel object recognition test
 4-7 months
Spatial learning1
Decreased
 Morris water maze test
 4-7 months
Stimulus-response learning2
Decreased
 Barnes maze test
 3 months, male
Spatial reference memory2
Decreased
 Barnes maze test
 4 months, female
Cognitive flexibility1
Decreased
 Morris water maze test
 4-7 months
Spatial working memory2
Decreased
 Barnes maze test
 4 months, female
Spatial reference memory2
Decreased
 Barnes maze test
 3 months, male
Spatial working memory2
Decreased
 Barnes maze test
 3 months, male
Spatial learning2
Decreased
 Barnes maze test
 4 months, female
Stimulus-response learning2
Decreased
 Barnes maze test
 4 months, female
Spatial working memory1
Decreased
 Eight-arm radial maze test
 4-7 months
Targeted expression1
Decreased
 Immunohistochemistry
 P0, p6, p12, adult
Protein expression: in situ protein expression1
Increased
 Immunohistochemistry
 4 months
Mortality/lethality1
 No change
 General observations
 0-8 weeks
Size/growth1
 No change
 General observations
 0-8 weeks
Anxiety1
 No change
 Light-dark exploration test
 4-7 months
Anxiety1
 No change
 Elevated zero maze test
 4-7 months
Exploratory activity: habituation1
 No change
 Open field test
 4-7 months
Conditioned taste aversion1
 No change
 Conditioned taste aversion test
 4-7 months
Cued or contextual fear conditioning: passive avoidance1
 No change
 Passive avoidance test
 4-7 months
Spatial learning2
 No change
 Barnes maze test
 3 months, male
Spatial reference memory2
 No change
 Barnes maze test
 3 months, male
Spatial reference memory2
 No change
 Barnes maze test
 4 months, female
Spatial reference memory1
 No change
 Morris water maze test
 4-7 months
General locomotor activity: ambulatory activity2
 No change
 Barnes maze test
 3 months, male
Motor coordination and balance1
 No change
 Accelerating rotarod test
 4-7 months
Neuronal number1
 No change
 Histology
 4 months
Epsp-spike relationship1
 No change
 Field potential recordings
 Unreported
Presynaptic function: paired-pulse facilitation1
 No change
 Field potential recordings
 Unreported
Synaptic plasticity: hippocampal ltp1
 No change
 Field potential recordings
 Unreported
Synaptic plasticity: ltd1
 No change
 Field potential recordings
 Unreported
Hormone levels1
 No change
 Corticosterone measurements
 4 months
Sensorimotor gating1
 No change
 Prepulse inhibition
 4-7 months
Startle response: acoustic stimulus1
 No change
 Acoustic startle reflex test
 4-7 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Seizure, Sensory, Social behavior

 

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