|Institutional Source||Beutler Lab|
|Gene Name||collagen, type V, alpha 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5061 (G1)|
|Chromosomal Location||27886425-28039514 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 27952378 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 422 (D422N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028280 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028280]|
AA Change: D422N
AA Change: D422N
|Meta Mutation Damage Score||0.0869|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col5a1||
(F):5'- AGGAAGTGCTAGGCTCAGTG -3'
(R):5'- TTGAAATGCATGGCAGCCC -3'
(F):5'- GCCTGCATGTGGCCAGG -3'
(R):5'- GGCAGCCCATGTCACTCTTG -3'