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 194,752,089     (Assembly: GRCm38)    
Ref Base A
Codon Change gAg/gGg
Var Base G
Zygosity Heterozygous
Read Depth 53
Allele Frequency
A:R0.42
G:V0.58
Amino Acid Position 641
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL02227
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 67 Other Mutations

 Predictions 
Polyphen Score 0.57
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved