Itgav - SNV Details



 Gene Information 
Gene Name Itgav
Old Gene Names for Itgav 1110004f14rik , 2610028e01rik , D430040g12rik
Gene Description integrin alpha V [Source:MGI Symbol;Acc:MGI:96608]
MGI phenotype Homozygotes for a targeted null mutation exhibit placental defects, intracerebral and intestinal hemorrhages, and cleft palate, resulting in death occurring as early as midgestation and as late as shortly after birth.
Uniprot Name
CCDS Name
Gene GO
opsonin binding; blood vessel development; membrane; integrin alphav-beta3 complex; response to nitric oxide; negative regulation of low-density lipoprotein particle receptor biosynthetic process; negative regulation of macrophage derived foam cell differentiation; fertilization; negative regulation of lipid storage; cell adhesion; metal ion binding; focal adhesion assembly; transforming growth factor beta binding; extrinsic apoptotic signaling pathway in absence of ligand; apoptotic cell clearance; gonad morphogenesis; positive regulation of cell migration; angiogenesis; negative regulation of lipid transport; external side of plasma membrane; ERK1 and ERK2 cascade; protein binding; cell surface; integral component of membrane; inflammatory response; regulation of apoptotic cell clearance; negative regulation of lipoprotein metabolic process; extracellular vesicular exosome; detection of molecule of bacterial origin; trophoblast giant cell differentiation; integrin complex; positive regulation of osteoblast proliferation; cell-matrix adhesion; voltage-gated calcium channel activity; negative regulation of entry of bacterium into host cell; integrin-mediated signaling pathway; plasma membrane; cell-substrate adhesion; calcium ion transmembrane transport; T cell activation; insulin-like growth factor I binding; endothelial cell migration; alphav-beta3 integrin-IGF-1-IGF1R complex; protein kinase C binding; release of sequestered calcium ion into cytosol; positive regulation of cell proliferation; protein heterodimerization activity; regulation of phagocytosis; positive regulation of cell adhesion; negative regulation of extrinsic apoptotic signaling pathway; regulation of bone resorption
Homolog in other species ITGAV
Omim http://omim.org/entry/193210
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE, IMM.G3, OSTEO GROUP, C2C12, UMBLICALCORD, NIH.3T3)
HIGH(HIGHER IN IMM GROUPS, OESTEO GROUP, EPITH GROUP, BLADDER, UTERUS, OVARY, LUNG, TRACHEA AND ADIPOSETISSUE, PROSTATE, UMBLICALCORD)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027087
Chromosome 2
Coordinate 83,802,995     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 27
Allele Frequency
T:R0.52
A:V0.48
Amino Acid Change M->K (Methionine -> Lysine)
Sample ID IGL00499
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved