Incidental Mutation 'R6102:Mmp13'
ID 485313
Institutional Source Beutler Lab
Gene Symbol Mmp13
Ensembl Gene ENSMUSG00000050578
Gene Name matrix metallopeptidase 13
Synonyms interstitial collagenase, Collagenase-3, collagenase-1, MMP-13, Mmp1, Clg
MMRRC Submission 044252-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R6102 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 7272514-7283331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7276688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 261 (Q261R)
Ref Sequence ENSEMBL: ENSMUSP00000015394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015394]
AlphaFold P33435
PDB Structure STRUCTURE OF RECOMBINANT MOUSE COLLAGENASE-3 (MMP-13) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000015394
AA Change: Q261R

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000015394
Gene: ENSMUSG00000050578
AA Change: Q261R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:PG_binding_1 33 92 5.3e-13 PFAM
ZnMc 110 269 3.76e-59 SMART
HX 291 333 9.62e-8 SMART
HX 335 378 9.91e-10 SMART
HX 383 430 2.52e-11 SMART
HX 432 472 1.81e-3 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
MGI Phenotype FUNCTION: This gene encodes a member of the matrix metalloproteinase family that plays a role in wound healing, skeletal development and bone remodeling. The encoded protein is activated by the removal of an N-terminal activation peptide to generate a zinc-dependent endopeptidase enzyme that can cleave various native collagens, including types I - IV, X and XIV. Mice lacking the encoded protein display profound defects in growth plate cartilage as well as a delay in the endochondral bone development. Lack of the encoded protein also impairs the wound healing process due to reduced keratinocyte migration and vascular density at the wound site. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Jun 2015]
PHENOTYPE: Homozygous null mice display increased width of hypertrophic chondrocyte zone and increased trabecular bone. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,210,849 (GRCm39) I290T possibly damaging Het
Apeh T A 9: 107,963,638 (GRCm39) D559V probably damaging Het
Aspm T A 1: 139,405,197 (GRCm39) Y1361* probably null Het
Atad5 G T 11: 80,002,398 (GRCm39) probably null Het
Ccr4 C T 9: 114,325,561 (GRCm39) probably null Het
Clasrp G A 7: 19,320,393 (GRCm39) probably benign Het
Cldn23 A G 8: 36,292,705 (GRCm39) M261T probably benign Het
Cmya5 T C 13: 93,230,739 (GRCm39) M1450V probably benign Het
Cyp4v3 T A 8: 45,773,197 (GRCm39) E202V probably damaging Het
Dnah7a A T 1: 53,598,299 (GRCm39) V1412E probably benign Het
Dnah9 A G 11: 65,881,342 (GRCm39) S2578P probably damaging Het
Dsc2 T A 18: 20,180,165 (GRCm39) Y196F probably benign Het
Exoc1 T C 5: 76,685,626 (GRCm39) S113P probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Frs3 C T 17: 48,013,596 (GRCm39) H173Y probably damaging Het
Ginm1 G T 10: 7,644,260 (GRCm39) T323K probably benign Het
Golgb1 T C 16: 36,733,227 (GRCm39) S825P probably damaging Het
Hs3st3b1 A T 11: 63,812,681 (GRCm39) C11* probably null Het
Ighv3-3 G C 12: 114,160,080 (GRCm39) A110G possibly damaging Het
Igkv6-20 G A 6: 70,312,853 (GRCm39) H107Y probably benign Het
Kcnj16 A G 11: 110,916,403 (GRCm39) E355G probably benign Het
Lig4 C T 8: 10,022,872 (GRCm39) G303S probably damaging Het
Map1b A C 13: 99,562,381 (GRCm39) V2443G unknown Het
Map3k6 T C 4: 132,974,442 (GRCm39) probably null Het
Mphosph9 T A 5: 124,435,772 (GRCm39) I554F possibly damaging Het
Mrgpra3 A T 7: 47,239,897 (GRCm39) F10I possibly damaging Het
Ms4a18 G A 19: 10,990,887 (GRCm39) T69I probably benign Het
Mtmr3 T C 11: 4,437,673 (GRCm39) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm39) Q188L probably benign Het
Nfatc2 A G 2: 168,361,427 (GRCm39) probably benign Het
Or5i1 T C 2: 87,613,192 (GRCm39) F103L probably damaging Het
Or5p70 T C 7: 107,994,491 (GRCm39) S55P probably damaging Het
Or7g34 T C 9: 19,478,318 (GRCm39) M121V possibly damaging Het
Paip2b A C 6: 83,785,828 (GRCm39) V134G possibly damaging Het
Pax3 T C 1: 78,108,984 (GRCm39) T225A probably damaging Het
Pbx1 C A 1: 168,011,134 (GRCm39) A298S probably benign Het
Pcdhac2 A T 18: 37,279,335 (GRCm39) K772* probably null Het
Pcsk4 A T 10: 80,161,651 (GRCm39) Y163* probably null Het
Plcd3 A G 11: 102,971,470 (GRCm39) V58A probably damaging Het
Plek2 T A 12: 78,946,867 (GRCm39) T57S possibly damaging Het
Plscr2 C T 9: 92,169,721 (GRCm39) T57I probably benign Het
Ppp2r5b A G 19: 6,284,768 (GRCm39) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm39) probably benign Het
Psme4 T A 11: 30,815,567 (GRCm39) L1693H probably damaging Het
Rrbp1 T A 2: 143,830,313 (GRCm39) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Serpina3b A T 12: 104,100,428 (GRCm39) T337S probably benign Het
Slc18a2 T C 19: 59,282,310 (GRCm39) Y506H probably benign Het
Slc9a9 A G 9: 94,818,482 (GRCm39) Y292C probably benign Het
Spta1 T C 1: 174,052,086 (GRCm39) V1840A probably benign Het
Ssb T C 2: 69,701,552 (GRCm39) *416Q probably null Het
Strada A G 11: 106,059,262 (GRCm39) V209A probably benign Het
Tbc1d31 A T 15: 57,799,489 (GRCm39) D225V probably damaging Het
Tgm4 T C 9: 122,885,600 (GRCm39) F381L probably benign Het
Tmem120b T A 5: 123,253,207 (GRCm39) Y203N probably damaging Het
Tmem176b A G 6: 48,812,868 (GRCm39) V109A probably benign Het
Tnfrsf11a C A 1: 105,747,671 (GRCm39) L201M possibly damaging Het
Ttn C A 2: 76,804,694 (GRCm39) probably null Het
Tubb2a T C 13: 34,259,326 (GRCm39) I155V probably benign Het
Vmn1r5 A G 6: 56,963,099 (GRCm39) D258G probably damaging Het
Vmn2r121 T C X: 123,043,272 (GRCm39) T120A probably benign Het
Vmn2r19 A T 6: 123,306,907 (GRCm39) I472F probably damaging Het
Vwa3a A G 7: 120,375,361 (GRCm39) probably null Het
Zfp273 A G 13: 67,970,466 (GRCm39) Y5C probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp825 A G 13: 74,628,772 (GRCm39) L248P probably damaging Het
Other mutations in Mmp13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01976:Mmp13 APN 9 7,278,974 (GRCm39) splice site probably benign
IGL02027:Mmp13 APN 9 7,272,955 (GRCm39) missense probably damaging 1.00
IGL02320:Mmp13 APN 9 7,278,941 (GRCm39) missense probably benign 0.00
R0143:Mmp13 UTSW 9 7,276,558 (GRCm39) missense probably damaging 1.00
R0417:Mmp13 UTSW 9 7,276,602 (GRCm39) missense probably benign
R0505:Mmp13 UTSW 9 7,272,929 (GRCm39) missense probably damaging 1.00
R0624:Mmp13 UTSW 9 7,280,221 (GRCm39) missense possibly damaging 0.69
R0632:Mmp13 UTSW 9 7,282,077 (GRCm39) missense possibly damaging 0.74
R0632:Mmp13 UTSW 9 7,274,032 (GRCm39) missense probably damaging 1.00
R1102:Mmp13 UTSW 9 7,272,952 (GRCm39) missense possibly damaging 0.55
R1387:Mmp13 UTSW 9 7,282,033 (GRCm39) missense possibly damaging 0.60
R1478:Mmp13 UTSW 9 7,272,892 (GRCm39) missense probably damaging 1.00
R1669:Mmp13 UTSW 9 7,277,926 (GRCm39) missense probably benign 0.01
R4647:Mmp13 UTSW 9 7,274,233 (GRCm39) missense probably damaging 1.00
R4648:Mmp13 UTSW 9 7,274,233 (GRCm39) missense probably damaging 1.00
R4668:Mmp13 UTSW 9 7,272,580 (GRCm39) missense possibly damaging 0.54
R4827:Mmp13 UTSW 9 7,278,880 (GRCm39) missense possibly damaging 0.68
R4898:Mmp13 UTSW 9 7,272,953 (GRCm39) missense probably benign 0.10
R5780:Mmp13 UTSW 9 7,278,952 (GRCm39) missense possibly damaging 0.76
R5946:Mmp13 UTSW 9 7,276,580 (GRCm39) missense probably damaging 1.00
R5996:Mmp13 UTSW 9 7,274,269 (GRCm39) missense probably damaging 1.00
R6693:Mmp13 UTSW 9 7,280,245 (GRCm39) missense probably benign 0.00
R6789:Mmp13 UTSW 9 7,272,781 (GRCm39) missense probably benign 0.00
R7310:Mmp13 UTSW 9 7,280,880 (GRCm39) missense possibly damaging 0.60
R7728:Mmp13 UTSW 9 7,274,004 (GRCm39) missense probably benign
R8041:Mmp13 UTSW 9 7,280,865 (GRCm39) missense probably benign 0.13
R8314:Mmp13 UTSW 9 7,272,931 (GRCm39) missense probably damaging 1.00
R8324:Mmp13 UTSW 9 7,276,636 (GRCm39) missense possibly damaging 0.75
R8684:Mmp13 UTSW 9 7,282,089 (GRCm39) missense possibly damaging 0.51
R8755:Mmp13 UTSW 9 7,277,996 (GRCm39) missense possibly damaging 0.51
R9365:Mmp13 UTSW 9 7,277,921 (GRCm39) missense probably benign 0.02
T0722:Mmp13 UTSW 9 7,280,857 (GRCm39) missense possibly damaging 0.67
Z1177:Mmp13 UTSW 9 7,280,200 (GRCm39) missense possibly damaging 0.89
Z1177:Mmp13 UTSW 9 7,277,953 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAGGGTCTTGCTTTCTCATTG -3'
(R):5'- TCAACAGAGGTCAGAAGCTTC -3'

Sequencing Primer
(F):5'- GTTTCTTGTTTTTCTTACAGGCTAC -3'
(R):5'- GGTCAGAAGCTTCATAATTTAAATGG -3'
Posted On 2017-08-16