|Institutional Source||Beutler Lab|
|Gene Name||matrix metallopeptidase 3|
|Synonyms||Stmy1, Str1, stromelysin 1, SLN-1, stromelysin-1, STR-1, progelatinase, SLN1|
|Is this an essential gene?||Probably non essential (E-score: 0.100)|
|Stock #||R5408 (G1)|
|Chromosomal Location||7445822-7455975 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 7449904 bp|
|Amino Acid Change||Serine to Proline at position 263 (S263P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034497 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034497]|
|Predicted Effect||probably damaging
AA Change: S263P
PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: S263P
|Meta Mutation Damage Score||0.202|
|Coding Region Coverage||
|Validation Efficiency||99% (74/75)|
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 protein is activated by the removal of an N-temrinal activation peptide to generate a zinc-dependent endopeptidase with a broad range of substrates such as proteoglycans, laminin, fibronectin, elastin, and collagens. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disrutptions in this gene display abnormalities of the immune system as well as minor structural abnormalities in the neuromuscular junction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mmp3||
(F):5'- ATGCAATGCCCAACTTGCC -3'
(R):5'- ATGCTGTGGGAGTTCCTAAAGG -3'
(F):5'- ATGCAATGCCCAACTTGCCTATATG -3'
(R):5'- CCTAAAGGGAACAGATTAAAAGAGGC -3'