|Institutional Source||Beutler Lab|
|Gene Name||collagen, type V, alpha 3|
|Is this an essential gene?||Possibly non essential (E-score: 0.452)|
|Stock #||R1438 (G1)|
|Chromosomal Location||20770050-20815067 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 20779957 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 1131 (K1131E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004201 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004201]|
|Predicted Effect||probably damaging
AA Change: K1131E
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: K1131E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1582|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
|MGI Phenotype||Strain: 5000519
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. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col5a3||
(F):5'- TGCATACATGCATACATGCCAACCT -3'
(R):5'- CTGAGCCACATCCCTGATTCACTG -3'
(F):5'- tccacctgcctctacctc -3'
(R):5'- GATTCACTGTGTCAGTAACTCAG -3'