|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 12|
|Is this an essential gene?||Probably non essential (E-score: 0.183)|
|Stock #||R6240 (G1)|
|Chromosomal Location||11064790-11349231 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 11285958 bp|
|Amino Acid Change||Aspartic acid to Valine at position 751 (D751V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057796 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061318]|
|Predicted Effect||probably benign
AA Change: D751V
PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: D751V
|Meta Mutation Damage Score||0.274|
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active protease. Mice lacking the encoded protein exhibit increased angiogenic response and tumor invasion in different models of angiogenesis and, severe inflammation and delayed recovery when subjected to experimental conditions that induce colitis, endotoxic sepsis and pancreatitis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased tumor vascularization, tumor invasion, and angiogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adamts12||
(F):5'- AATTCTGTGGCTGGCTCGTC -3'
(R):5'- TATTGAGCACACTGGCCAC -3'
(F):5'- CCACGGGCACTGAAGGATG -3'
(R):5'- ACCAGCCCGTTCCCTTC -3'