Plxnb2 - SNV Details



 Gene Information 
Gene Name Plxnb2
Old Gene Names for Plxnb2 Debt , 1110007h23rik
Gene Description plexin B2 [Source:MGI Symbol;Acc:MGI:2154239]
MGI phenotype Homozygotes for a targeted mutation of this gene die perinatally of exencephaly or survive and seem normal despite severe abnormalities in cerebellar layering and foliation; the external granule cell layer is disorganized due to continued proliferation and migration of differentiated granule cells.
Uniprot Name
CCDS Name
Gene GO
semaphorin receptor activity; membrane; receptor activity; regulation of neuron migration; signal transduction; regulation of cell shape; intracellular; integral to plasma membrane; protein binding; neuroblast proliferation; positive regulation of axonogenesis; neural tube closure; regulation of Rho GTPase activity; semaphorin-plexin signaling pathway; regulation of protein phosphorylation; multicellular organismal development; brain development
Homolog in other species PLXNB2
Omim http://omim.org/entry/604293
Immgen Expression
LOW(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000036606
Chromosome 15
Coordinate 89,157,214     (Assembly: GRCm38)    
Ref Base T
Codon Change Atc/Gtc
Var Base C
Zygosity Heterozygous
Read Depth 113
Allele Frequency
T:R0.52
C:V0.47
Amino Acid Position 1749
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL01695
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000104955:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Plexin, cytoplasmic RasGAP domain Plexin_cytoplasmic_RasGAP_dom IPR013548 ENSMUSP00000104955 Pfam 1275
1809 Description available Search pathways
Rho GTPase activation protein Rho_GTPase_activation_prot IPR008936 ENSMUSP00000104955 Superfamily 1315
1810 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved