Incidental Mutation 'R2571:Mmp3'
ID 252547
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 040429-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R2571 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 7445822-7455975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7451844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 394 (I394N)
Ref Sequence ENSEMBL: ENSMUSP00000034497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034497]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000034497
AA Change: I394N

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034497
Gene: ENSMUSG00000043613
AA Change: I394N

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,289,044 (GRCm39) N2438S probably benign Het
Ago3 G A 4: 126,257,604 (GRCm39) R476W probably damaging Het
Akap8 T C 17: 32,534,429 (GRCm39) E339G probably damaging Het
Apba2 T C 7: 64,395,498 (GRCm39) V658A probably damaging Het
Bcl3 T C 7: 19,543,452 (GRCm39) D338G probably damaging Het
Bpnt2 C T 4: 4,778,192 (GRCm39) probably null Het
Ccdc138 T C 10: 58,349,044 (GRCm39) Y197H probably benign Het
Ccdc162 T A 10: 41,428,393 (GRCm39) Q499L probably damaging Het
Ccser1 G A 6: 61,399,944 (GRCm39) C21Y probably damaging Het
Chil6 A T 3: 106,297,709 (GRCm39) Y229* probably null Het
Cntnap5a C T 1: 116,112,092 (GRCm39) R461C probably damaging Het
Col19a1 T A 1: 24,413,712 (GRCm39) R407S unknown Het
Crlf3 A T 11: 79,938,339 (GRCm39) F433I probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dnah10 A T 5: 124,852,542 (GRCm39) R1867W probably damaging Het
Dsg3 T C 18: 20,673,062 (GRCm39) V911A probably benign Het
Dzip3 T C 16: 48,792,581 (GRCm39) probably null Het
Evpl T C 11: 116,128,795 (GRCm39) Q10R unknown Het
Glra3 C T 8: 56,563,516 (GRCm39) A337V probably benign Het
H2-T5 C T 17: 36,478,553 (GRCm39) G132R possibly damaging Het
Hcfc2 T C 10: 82,544,857 (GRCm39) F163S probably damaging Het
Hells T C 19: 38,948,177 (GRCm39) V701A possibly damaging Het
Helz A G 11: 107,504,778 (GRCm39) T422A probably benign Het
Hhat G A 1: 192,235,330 (GRCm39) T442I probably damaging Het
Hmces A T 6: 87,913,202 (GRCm39) Q319L possibly damaging Het
Ighv1-62-1 T A 12: 115,350,377 (GRCm39) T97S probably damaging Het
Kcne2 C T 16: 92,093,800 (GRCm39) T109I probably damaging Het
Kcnq1 T G 7: 142,661,433 (GRCm39) L113R probably benign Het
Kdm5d T C Y: 940,932 (GRCm39) S1106P probably benign Het
Kel C A 6: 41,665,001 (GRCm39) A588S possibly damaging Het
Kmt2e T A 5: 23,706,885 (GRCm39) F1483I probably benign Het
Krt4 T A 15: 101,829,692 (GRCm39) N279Y probably damaging Het
Lama4 T A 10: 38,918,671 (GRCm39) M384K possibly damaging Het
Lepr C T 4: 101,625,369 (GRCm39) T508I possibly damaging Het
Lypd10 A G 7: 24,412,819 (GRCm39) I76V probably benign Het
Map1lc3b T A 8: 122,320,213 (GRCm39) probably null Het
Me1 T C 9: 86,536,751 (GRCm39) H108R probably damaging Het
Mindy4 T C 6: 55,261,770 (GRCm39) S560P probably damaging Het
Mmrn2 T C 14: 34,124,896 (GRCm39) S826P probably damaging Het
Or13n4 T A 7: 106,422,933 (GRCm39) M267L probably benign Het
Osbpl7 T C 11: 96,945,667 (GRCm39) L138P probably damaging Het
Pcdhga11 G A 18: 37,889,921 (GRCm39) E310K probably damaging Het
Pcif1 A G 2: 164,726,131 (GRCm39) D39G probably damaging Het
Ppp1r21 C T 17: 88,852,810 (GRCm39) T63I probably benign Het
Prickle2 T C 6: 92,682,381 (GRCm39) Q25R probably benign Het
Ptk2 A G 15: 73,103,768 (GRCm39) L94P probably damaging Het
Ptprg T C 14: 12,122,135 (GRCm38) F333S probably benign Het
Rag2 T A 2: 101,460,312 (GRCm39) H207Q probably damaging Het
Rps6ka1 G T 4: 133,587,923 (GRCm39) probably null Het
Rps6ka4 G T 19: 6,815,471 (GRCm39) H174Q probably damaging Het
Rreb1 C A 13: 38,083,613 (GRCm39) T92K probably damaging Het
Ryr1 A T 7: 28,708,987 (GRCm39) M4793K unknown Het
Ryr1 T A 7: 28,735,551 (GRCm39) M4076L possibly damaging Het
Sec16a A C 2: 26,329,343 (GRCm39) S891A probably benign Het
Sgsh A G 11: 119,241,340 (GRCm39) Y132H probably damaging Het
Sos2 T A 12: 69,682,492 (GRCm39) E242V possibly damaging Het
Spata31d1c G T 13: 65,184,198 (GRCm39) R580L probably damaging Het
Spata9 C A 13: 76,115,880 (GRCm39) probably benign Het
Tead2 T A 7: 44,875,194 (GRCm39) V202E probably damaging Het
Thada T C 17: 84,762,068 (GRCm39) K168E probably damaging Het
Tmem64 T C 4: 15,266,718 (GRCm39) I256T probably damaging Het
Tra2a G T 6: 49,229,421 (GRCm39) probably benign Het
Trim30a T A 7: 104,078,533 (GRCm39) N181I possibly damaging Het
Ttc13 A C 8: 125,410,538 (GRCm39) Y372D probably damaging Het
Vit T C 17: 78,894,174 (GRCm39) V192A probably benign Het
Vmn2r69 T C 7: 85,064,764 (GRCm39) T41A probably benign Het
Vps13d C A 4: 144,875,706 (GRCm39) K1600N probably benign Het
Xpnpep3 A T 15: 81,335,127 (GRCm39) H420L probably damaging Het
Zfp322a A G 13: 23,540,614 (GRCm39) L376P probably damaging Het
Zfp619 T C 7: 39,186,595 (GRCm39) L875P probably damaging Het
Zic5 T A 14: 122,696,890 (GRCm39) Q575L unknown 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
R0356:Mmp3 UTSW 9 7,451,768 (GRCm39) missense probably benign 0.03
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
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'- CGCAAGCCATAATTCCTGGAC -3'
(R):5'- AGAGAAGATGGCCTCTCAGC -3'

Sequencing Primer
(F):5'- CCTGGACTTTTTAACACGATGG -3'
(R):5'- CCTACTTTACTGAATAGGAAGGAGC -3'
Posted On 2014-12-04