|Institutional Source||Beutler Lab|
|Gene Name||collagen, type VI, alpha 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5562 (G1)|
|Chromosomal Location||76595762-76623630 bp(-) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||G to A at 76599675 bp|
|Amino Acid Change||Glutamine to Stop codon at position 909 (Q909*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000101053 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001181] [ENSMUST00000105413]|
|Predicted Effect||probably benign
|Predicted Effect||probably null
AA Change: Q909*
AA Change: Q909*
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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'- AGGTGGGCCTCCAATCAC -3'
(R):5'- TCCGCACGGAAGAGGGTC -3'
(F):5'- GGACAGGTTCCTAGGTTCCTAC -3'
(R):5'- GTCCGGACCCCACCTTC -3'