Pvrl2 - SNV Details



 Gene Information 
Gene Name Pvrl2
Old Gene Names for Pvrl2 Ai325026 , Ai987993 , Pvs , Pvr
Gene Description poliovirus receptor-related 2 [Source:MGI Symbol;Acc:MGI:97822]
MGI phenotype Mice homozygous for targeted null mutations exhibit male sterility associated with sperm head and midpiece malformation, impaired zona binding, and lack of oocyte penetration.
Uniprot Name
CCDS Name
Gene GO
cell adhesion molecule binding; positive regulation of mast cell activation; susceptibility to T cell mediated cytotoxicity; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; cell part morphogenesis; zonula adherens; integral to membrane; cytoskeleton organization; fertilization; spermatid development; homophilic cell adhesion; virion attachment
binding of host cell surface coreceptor; sperm mitochondrion organization; positive regulation of immunoglobulin mediated immune response; adhesion to symbiont; acrosome assembly; protein homodimerization activity; cell-cell junction; protein binding; cell surface; positive regulation of natural killer cell mediated cytotoxicity; establishment of mitochondrion localization; susceptibility to natural killer cell mediated cytotoxicity; plasma membrane; viral entry into host cell via membrane fusion with the plasma membrane; spermatid nucleus differentiation; flagellum organization
Homolog in other species PVRL2
Omim http://omim.org/entry/600798
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000062300
Chromosome 7
Coordinate 19,717,562     (Assembly: GRCm38)    
Ref Base A
Codon Change Tcc/Ccc
Var Base G
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.47
G:V0.53
Amino Acid Position 516
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01982
Median Base Quality 38
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 68 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.05
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved