Nav2 - SNV Details



 Gene Information 
Gene Name Nav2
Old Gene Names for Nav2 Bq960892 , 5330421f07rik , Au067780
Gene Description neuron navigator 2 [Source:MGI Symbol;Acc:MGI:2183691]
MGI phenotype Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss.
Uniprot Name
CCDS Name
Gene GO
nervous system development; extracellular matrix; vagus nerve development; sensory perception of smell; glossopharyngeal nerve development; metabolic process; nucleoside-triphosphatase activity; protein binding; nucleus; sensory perception of sound; heparin binding; nucleotide binding; optic nerve development; ATP binding; interstitial matrix; locomotory behavior; regulation of systemic arterial blood pressure by baroreceptor feedback
Homolog in other species NAV2
Omim http://omim.org/entry/607026
Immgen Expression
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000052512
Chromosome 7
Coordinate 49,464,879     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 14
Allele Frequency
T:R0.57
A:V0.43
Amino Acid Change S->R (Serine -> Arginine)
Sample ID IGL03105
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved