Plxna3 - SNV Details



 Gene Information 
Gene Name Plxna3
Old Gene Names for Plxna3 Plxn3
Gene Description plexin A3 [Source:MGI Symbol;Acc:MGI:107683]
MGI phenotype Mice homozygous for disruptions in this gene possess misdirected axons in the hippocampus. They are, otherwise, indistinguishable from wild-type mice.
Uniprot Name
CCDS Name
Gene GO
semaphorin receptor activity; membrane; integral to membrane; receptor activity; signal transduction; negative chemotaxis; intracellular; pyramidal neuron development; positive regulation of cytoskeleton organization; protein binding; axon guidance; negative regulation of axon extension involved in axon guidance; hippocampus development; plasma membrane; semaphorin-plexin signaling pathway; multicellular organismal development
Homolog in other species PLXNA3
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN MEDIALOLFACTORYEPITHELIUM.MOE.)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031398
Chromosome X
Coordinate 74,335,385     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 29
Allele Frequency
C:R0.62
A:V0.38
Amino Acid Change Q->K (Glutamine -> Lysine)
Sample ID IGL02511
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved