|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: 0.662)|
|Stock #||R2034 (G1)|
|Chromosomal Location||92827291-92853420 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 92836912 bp|
|Amino Acid Change||Serine to Phenylalanine at position 338 (S338F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034187 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034187]|
|Predicted Effect||probably damaging
AA Change: S338F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S338F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2702|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
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'- TGCTCCTATCTACAAGGGTCC -3'
(R):5'- TCCAGTGTCTCTACCCAAAGGC -3'
(F):5'- AGACTCTGAACTATGGCTACCTGG -3'
(R):5'- CCAGGGCCTCATACCTTGGTC -3'