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 194,643,950     (Assembly: GRCm38)    
Ref Base T
Codon Change gTg/gAg
Var Base A
Zygosity Heterozygous
Read Depth 41
Allele Frequency
T:R0.56
A:V0.44
Amino Acid Position 64
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL01862
Median Base Quality 39
Backgrounds Balb/c:C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 61 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000027952:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Sema domain Semaphorin/CD100_Ag IPR001627 ENSMUSP00000027952 Superfamily 35
508 Description available Search pathways
Sema domain Semaphorin/CD100_Ag IPR001627 ENSMUSP00000027952 Pfam 50
489 Description available Search pathways
Sema domain Semaphorin/CD100_Ag IPR001627 ENSMUSP00000027952 Prosite_profiles 25
508 Description available Search pathways
Sema domain Semaphorin/CD100_Ag IPR001627 ENSMUSP00000027952 Smart 50
492 Description available Search pathways

 Availability Details 
Availability Cryopreserved