|Institutional Source||Beutler Lab|
|Gene Name||collagen, type V, alpha 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0123 (G1)|
|Chromosomal Location||45374321-45503282 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 45407035 bp|
|Amino Acid Change||Isoleucine to Threonine at position 461 (I461T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000083620 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000086430]|
|Predicted Effect||probably benign
AA Change: I461T
PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: I461T
|Meta Mutation Damage Score||0.116|
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
FUNCTION: This gene encodes the alpha-2 subunit of type V collagen, one of the low abundance fibrillar collagens that gets incorporated into growing fibrils with type I collagen. The encoded protein, in association with alpha-1 and/or alpha-3 subunits, forms homo- or heterotrimeric type V procollagen that undergoes proteolytic processing. Mice lacking the encoded protein die in utero. Transgenic mice that produce a structurally abnormal form of the encoded protein survive poorly and exhibit skin fragility, skeletal abnormalities and alterations in the collagen fiber organization. [provided by RefSeq, Dec 2015]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col5a2||
(F):5'- CCACCTCCCAAGCTCTAGGATTAGAAG -3'
(R):5'- GCCCCACAGTAAGTACCAGAACTTATG -3'
(F):5'- CTCTAGGATTAGAAGCATGGTCCTC -3'
(R):5'- CAGTAAGTACCAGAACTTATGTCAGG -3'