|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2|
|Synonyms||ADAM-TS2, procollagen N-proteinase, hPCPNI, a disintegrin and metalloproteinase with thrombospondin repeats|
|Is this an essential gene?||Probably non essential (E-score: 0.106)|
|Stock #||R8081 (G1)|
|Chromosomal Location||50602084-50807573 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 50777177 bp|
|Amino Acid Change||Aspartic acid to Valine at position 522 (D522V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040171 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040523]|
|Predicted Effect||probably damaging
AA Change: D522V
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: D522V
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin repeats) family of proteinases that is involved in the proteolytic processing of procollagens. The encoded protein precursor is proteolytically processed to generate a mature, zinc-dependent enzyme. Mice lacking the encoded protein develop abnormal lungs, fragile skin and male sterility. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adamts2||
(F):5'- TGTCATAGCCACACTGCATGC -3'
(R):5'- TCCTAAGAAGGCCCCTGG -3'
(F):5'- CCCCAGAATCAGATGGAGCTTG -3'
(R):5'- GGATCGCCTCTGCAGATACTACAG -3'