Plxna2 - SNV Details



 Gene Information 
Gene Name Plxna2
Old Gene Names for Plxna2 2810428a13rik , Aa589422 , Plxn2 , Aw457381
Gene Description plexin A2 [Source:MGI Symbol;Acc:MGI:107684]
MGI phenotype Mice homozygous for a knock-out allele show abnormal granule cell migration in the adult cerebellum and aberrant projection of mossy fibers in hippocampal slices. Mice homozygous for an ENU-induced allele are smaller and show granule cell migration defects and mild ataxia with incomplete penetrance.
Uniprot Name
CCDS Name
Gene GO
somitogenesis; semaphorin receptor activity; membrane; cerebellar granule cell precursor tangential migration; receptor activity; regulation of cell migration; signal transduction; neural tube development; intracellular; integral to plasma membrane; protein binding; cell surface receptor signaling pathway; pharyngeal system development; centrosome localization; limb bud formation; plasma membrane; semaphorin-plexin signaling pathway; multicellular organismal development
Homolog in other species PLXNA2
Omim http://omim.org/entry/601054
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026640
Chromosome 1
Coordinate 194,751,438     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 81
Allele Frequency
T:R0.44
A:V0.56
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL02553
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 60 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved