|Institutional Source||Beutler Lab|
|Gene Name||collagen, type VI, alpha 2|
|Is this an essential gene?||Probably non essential (E-score: 0.111)|
|Stock #||R0137 (G1)|
|Chromosomal Location||76595762-76623630 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 76596425 bp|
|Amino Acid Change||Glycine to Cysteine at position 965 (G965C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001181 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001181] [ENSMUST00000105413]|
|Predicted Effect||probably damaging
AA Change: G965C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: G965C
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.4|
|Coding Region Coverage||
|Validation Efficiency||95% (94/99)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit reduced body weight. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col6a2||
(F):5'- TGCTAACAGATCCAGCGGATGAAC -3'
(R):5'- TGGCAGCCAGAATCAGCAACAG -3'
(F):5'- ATCCAGCGGATGAACCTGTC -3'
(R):5'- ATCAGCAACAGGTGGCCTTC -3'