Col5a2 - SNV Details




Date removed: 23/11/2013
 Human Rare Diseases 
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 2

 Gene Information 
Gene Name Col5a2
Old Gene Names for Col5a2 1110014l14rik
Gene Description collagen, type V, alpha 2 [Source:MGI Symbol;Acc:MGI:88458]
MGI phenotype Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea.
Uniprot Name
CCDS Name
Gene GO
signal transduction; skin development; collagen fibril organization; collagen type V; protein binding; eye morphogenesis; collagen; skeletal system development; cellular response to amino acid stimulus; SMAD binding; receptor binding; extracellular matrix structural constituent
Homolog in other species COL5A2
Omim http://omim.org/entry/120190
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
HIGH
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 ENSMUSG00000026042
Chromosome 1
Coordinate 45,376,739     (Assembly: GRCm38)    
Ref Base T
Codon Change aAc/aGc
Var Base C
Zygosity Heterozygous
Read Depth 121
Allele Frequency
T:R0.59
C:V0.40
Amino Acid Position 1416
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL01487
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 21 Other Mutations

 Predictions 
Polyphen Score 0.52
Polyphen Prediction Possibly damaging
Sift Score 0.09
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved