|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)|
|Is this an essential gene?||Probably non essential (E-score: 0.201)|
|Stock #||R1454 (G1)|
|Chromosomal Location||85856173-85901828 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 85869993 bp|
|Amino Acid Change||Valine to Alanine at position 537 (V537A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023611 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023611]|
|Predicted Effect||possibly damaging
AA Change: V537A
PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V537A
|Meta Mutation Damage Score||0.11|
|Coding Region Coverage||
|Validation Efficiency||97% (58/60)|
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, zinc-dependent aggrecanase enzyme. Mice lacking the encoded protein are protected from surgery-induced osteoarthritis and antigen-induced arthritis. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for one null allele exhibit a significant reduction in cartilage degradation after induction of osteoarthritis whereas those homozygous for another show no affect. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adamts5||
(F):5'- AGGCTACACGTTAAGTGCCAATCTC -3'
(R):5'- GTTTGCTAGACCTACCACGGAAGC -3'
(F):5'- GAGTTTGCCAAGAAATCCCTG -3'
(R):5'- CTACCACGGAAGCAGATTTTGG -3'