|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin and metallopeptidase domain 12 (meltrin alpha)|
|Is this an essential gene?||Possibly non essential (E-score: 0.340)|
|Stock #||R1797 (G1)|
|Chromosomal Location||133883199-134232146 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 133967861 bp|
|Amino Acid Change||Arginine to Leucine at position 295 (R295L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065213 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067680]|
|Predicted Effect||probably benign
AA Change: R295L
PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: R295L
|Coding Region Coverage||
FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein that localizes to the cell surface. About a third of the mice lacking the encoded protein die before weaning. Overexpression of the encoded protein in a mouse model of Duchenne muscular dystrophy alleviates the muscle pathology by preventing cell necrosis and inflammation. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adam12||
(F):5'- CATAAATGAGAGTCCTGCAGGG -3'
(R):5'- CTGACTGTGATCCTCCAAGG -3'
(F):5'- CCCAGATGGATGTGTAGTAGC -3'
(R):5'- CCAAGGATGCCCATTCTCTTAG -3'