Nrxn2 - SNV Details



 Gene Information 
Gene Name Nrxn2
Old Gene Names for Nrxn2 6430591o13rik
Gene Description neurexin II [Source:MGI Symbol;Acc:MGI:1096362]
MGI phenotype Mice homozygous for a knock-out allele are generally non-viable; surviving homozygotes show a 30-40% decrease in body weight and their inhibitory postsynaptic currents (IPSCs) are decreased in cortical slice cultures.
Uniprot Name
CCDS Name
Gene GO
synaptic transmission; integral to membrane; calcium channel regulator activity; neurotransmitter secretion; protein binding; synapse assembly; presynaptic membrane
Homolog in other species NRXN2
Omim http://omim.org/entry/600566
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
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 IN PITUITARY, AMYGDALA, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033768
Chromosome 19
Coordinate 6,450,580     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 18
Allele Frequency
T:R0.61
A:V0.39
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL02605
Median Base Quality 34.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.03
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved