Nrxn3 - SNV Details



 Gene Information 
Gene Name Nrxn3
Old Gene Names for Nrxn3 4933401a11rik , 9330112c09rik , D12bwg0831e
Gene Description neurexin III [Source:MGI Symbol;Acc:MGI:1096389]
MGI phenotype Twenty percent of mice homozygous for a knock-out allele die postnatally prior to 20 days of age.
Uniprot Name
CCDS Name
Gene GO
synaptic transmission; integral to membrane; cell adhesion; metal ion binding; calcium channel regulator activity; neurotransmitter secretion; angiogenesis; protein binding; synapse assembly; presynaptic membrane
Homolog in other species NRXN3
Omim http://omim.org/entry/600567
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
MEDIAN
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000066392
Chromosome 12
Coordinate 89,255,034     (Assembly: GRCm38)    
Ref Base A
Codon Change Atc/Gtc
Var Base G
Zygosity Heterozygous
Read Depth 42
Allele Frequency
A:R0.48
G:V0.52
Amino Acid Position 528
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL01338
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Sift Score 0.55
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved