|Institutional Source||Beutler Lab|
|Gene Name||von Willebrand factor A domain containing 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6361 (G1)|
|Chromosomal Location||56874249-56912078 bp(+) (GRCm38)|
|Type of Mutation||critical splice acceptor site|
|DNA Base Change (assembly)||A to T at 56901526 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000026068 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026068]|
|Predicted Effect||probably null
|Meta Mutation Damage Score||0.9486|
|Coding Region Coverage||
|Validation Efficiency||98% (43/44)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vwa2||
(F):5'- CTTTGTCTGCCGATGAGCAG -3'
(R):5'- AGTCTGTAAGGTTCAAGGCTATTC -3'
(F):5'- GTTTGAGGACAAGGCGTTTAG -3'
(R):5'- AAGGCTATTCCCTTGCAGG -3'