|Institutional Source||Beutler Lab|
|Gene Name||matrix metallopeptidase 2|
|Synonyms||gelatinase A, 72kDa gelatinase, Clg4a, GelA, MMP-2, 72kDa type IV collagenase|
|Is this an essential gene?||Possibly essential (E-score: 0.515)|
|Stock #||R7229 (G1)|
|Chromosomal Location||92827291-92853420 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 92831786 bp|
|Amino Acid Change||Arginine to Glutamine at position 161 (R161Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034187 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034187]|
|Predicted Effect||probably damaging
AA Change: R161Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R161Q
|Coding Region Coverage||
|Validation Efficiency||100% (73/73)|
FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme that hydrolyzes collagens, gelatins, laminin, fibronectin and elastin. Mice lacking the encoded protein exhibit suppressed angiogenesis and attenuated features of human multicentric osteolysis with arthritis including abnormal skeletal and craniofacial development. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit slightly delayed growth, reduced neovascularization, retarded tumor progression, an exaggerated asthma response to allergens, and impaired branching morphogenesis of the mammary gland. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mmp2||
(F):5'- TGCATGCACACACTCTATGC -3'
(R):5'- AAGCAGGGTATACTATACTGCATCC -3'
(F):5'- TGCACATAGACACTTGCACAATTG -3'
(R):5'- AGTGTCTGGAACATGCTCTGCTAC -3'