Incidental Mutation 'R0356:Mmp3'
ID 29827
Institutional Source Beutler Lab
Gene Symbol Mmp3
Ensembl Gene ENSMUSG00000043613
Gene Name matrix metallopeptidase 3
Synonyms Stmy1, SLN-1, Str1, stromelysin 1, STR-1, stromelysin-1, SLN1, progelatinase
MMRRC Submission 038562-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R0356 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 7445822-7455975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 7451768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 369 (E369K)
Ref Sequence ENSEMBL: ENSMUSP00000034497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034497]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034497
AA Change: E369K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000034497
Gene: ENSMUSG00000043613
AA Change: E369K

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:PG_binding_1 29 89 1.7e-12 PFAM
ZnMc 107 267 6.24e-65 SMART
HX 298 340 4.56e-9 SMART
HX 342 385 2.87e-6 SMART
HX 390 437 4.73e-16 SMART
HX 439 479 3.3e-6 SMART
Meta Mutation Damage Score 0.1683 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
MGI Phenotype 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
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Adgrg6 C T 10: 14,302,642 (GRCm39) V924M possibly damaging Het
Anxa9 A G 3: 95,215,387 (GRCm39) probably benign Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Cbfa2t2 T A 2: 154,373,269 (GRCm39) D475E probably benign Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Ccdc62 G A 5: 124,092,811 (GRCm39) V599I probably benign Het
Cenpj T C 14: 56,786,953 (GRCm39) E917G probably damaging Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Drg2 T A 11: 60,352,407 (GRCm39) V203E probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Gp6 A T 7: 4,373,141 (GRCm39) probably benign Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Lcn5 T C 2: 25,550,705 (GRCm39) I131T probably damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Nr5a2 T C 1: 136,773,430 (GRCm39) N424S possibly damaging Het
Or1e21 A T 11: 73,344,906 (GRCm39) I44N possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Prpf40b T C 15: 99,203,080 (GRCm39) probably null Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Sirpb1c T C 3: 15,887,309 (GRCm39) N175D possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tgm5 T A 2: 120,884,055 (GRCm39) T313S probably damaging Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A probably benign Het
Other mutations in Mmp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Mmp3 APN 9 7,445,894 (GRCm39) utr 5 prime probably benign
IGL01738:Mmp3 APN 9 7,446,946 (GRCm39) missense possibly damaging 0.94
IGL02154:Mmp3 APN 9 7,453,662 (GRCm39) missense probably benign 0.19
IGL02212:Mmp3 APN 9 7,450,165 (GRCm39) missense probably damaging 1.00
IGL02568:Mmp3 APN 9 7,446,001 (GRCm39) missense probably benign 0.02
IGL03366:Mmp3 APN 9 7,450,149 (GRCm39) missense probably benign 0.00
R0047:Mmp3 UTSW 9 7,451,910 (GRCm39) splice site probably benign
R0047:Mmp3 UTSW 9 7,451,910 (GRCm39) splice site probably benign
R0390:Mmp3 UTSW 9 7,451,320 (GRCm39) missense probably benign 0.29
R0401:Mmp3 UTSW 9 7,449,790 (GRCm39) missense probably damaging 1.00
R0466:Mmp3 UTSW 9 7,450,165 (GRCm39) missense probably damaging 1.00
R0549:Mmp3 UTSW 9 7,455,638 (GRCm39) missense probably benign 0.08
R0903:Mmp3 UTSW 9 7,445,994 (GRCm39) missense probably benign 0.00
R1438:Mmp3 UTSW 9 7,453,705 (GRCm39) missense probably benign 0.22
R1498:Mmp3 UTSW 9 7,446,967 (GRCm39) missense possibly damaging 0.95
R1515:Mmp3 UTSW 9 7,451,232 (GRCm39) missense probably benign 0.01
R1629:Mmp3 UTSW 9 7,447,641 (GRCm39) missense probably benign 0.00
R1844:Mmp3 UTSW 9 7,453,662 (GRCm39) missense probably benign 0.19
R1858:Mmp3 UTSW 9 7,451,799 (GRCm39) missense probably benign 0.08
R2099:Mmp3 UTSW 9 7,453,672 (GRCm39) missense probably benign 0.01
R2497:Mmp3 UTSW 9 7,450,131 (GRCm39) missense probably benign 0.00
R2571:Mmp3 UTSW 9 7,451,844 (GRCm39) missense possibly damaging 0.95
R4659:Mmp3 UTSW 9 7,453,673 (GRCm39) missense probably benign 0.00
R4687:Mmp3 UTSW 9 7,451,223 (GRCm39) missense probably benign 0.03
R4717:Mmp3 UTSW 9 7,449,881 (GRCm39) missense possibly damaging 0.94
R4930:Mmp3 UTSW 9 7,447,640 (GRCm39) missense probably benign 0.02
R4932:Mmp3 UTSW 9 7,446,994 (GRCm39) missense probably benign 0.00
R5020:Mmp3 UTSW 9 7,445,984 (GRCm39) missense probably benign
R5384:Mmp3 UTSW 9 7,451,759 (GRCm39) nonsense probably null
R5385:Mmp3 UTSW 9 7,451,759 (GRCm39) nonsense probably null
R5408:Mmp3 UTSW 9 7,449,904 (GRCm39) missense probably damaging 0.98
R6268:Mmp3 UTSW 9 7,447,622 (GRCm39) missense possibly damaging 0.78
R7317:Mmp3 UTSW 9 7,446,937 (GRCm39) missense probably damaging 1.00
R7467:Mmp3 UTSW 9 7,450,125 (GRCm39) missense probably benign 0.07
R7467:Mmp3 UTSW 9 7,447,621 (GRCm39) missense possibly damaging 0.93
R8101:Mmp3 UTSW 9 7,446,985 (GRCm39) missense probably benign 0.19
R9098:Mmp3 UTSW 9 7,446,936 (GRCm39) missense probably damaging 1.00
R9486:Mmp3 UTSW 9 7,451,256 (GRCm39) missense possibly damaging 0.50
X0022:Mmp3 UTSW 9 7,449,857 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- TTGGCGCAAATCTCTCAGGACTC -3'
(R):5'- GCTGCTGCTGTTTAAAAGCCCTTC -3'

Sequencing Primer
(F):5'- ACTTAGTGAGACAAGCCTCTG -3'
(R):5'- TCCCATAGTTGCCAGAGGGAG -3'
Posted On 2013-04-24