Col4a2 - SNV Details



 Human Rare Diseases 
Familial porencephaly

 Gene Information 
Gene Name Col4a2
Old Gene Names for Col4a2 Au019502 , Col4a-2
Gene Description collagen, type IV, alpha 2 [Source:MGI Symbol;Acc:MGI:88455]
MGI phenotype ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.
Uniprot Name
CCDS Name
Gene GO
basement membrane; transcription
DNA-dependent; extracellular matrix; cellular response to transforming growth factor beta stimulus; collagen type IV; angiogenesis; protein binding; collagen; extracellular matrix structural constituent; negative regulation of angiogenesis
Homolog in other species COL4A2
Omim http://omim.org/entry/120090
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031503
Chromosome 8
Coordinate 11,439,306     (Assembly: GRCm38)    
Ref Base G
Codon Change gGc/gTc
Var Base T
Zygosity Heterozygous
Read Depth 65
Allele Frequency
G:R0.52
T:V0.48
Amino Acid Position 1147
Amino Acid Change G->V (Glycine -> Valine)
Sample ID IGL01574
Median Base Quality 36
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000033899:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Collagen triple helix repeat Collagen IPR008160 ENSMUSP00000033899 Pfam 1096
1150 Description available Search pathways

 Availability Details 
Availability Cryopreserved