Incidental Mutation 'R6789:Mmp13'
ID 532937
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R6789 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 7272514-7283331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 7272781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 47 (Y47F)
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: Y47F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000015394
Gene: ENSMUSG00000050578
AA Change: Y47F

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: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T A 1: 58,343,644 (GRCm39) D442E probably benign Het
Arl6ip4 G A 5: 124,254,665 (GRCm39) G53R probably damaging Het
Asns T C 6: 7,675,344 (GRCm39) T553A probably benign Het
Atp1a1 T A 3: 101,493,614 (GRCm39) N497Y possibly damaging Het
Birc2 T C 9: 7,836,966 (GRCm39) probably benign Het
Catsperd C A 17: 56,961,426 (GRCm39) probably null Het
Dchs1 G T 7: 105,406,210 (GRCm39) Q2341K possibly damaging Het
Dydc2 C A 14: 40,771,296 (GRCm39) V128L probably benign Het
Dync2i2 A G 2: 29,923,284 (GRCm39) probably null Het
Efna3 C T 3: 89,223,769 (GRCm39) probably null Het
Fbn2 C T 18: 58,143,686 (GRCm39) E2790K probably benign Het
Fhip1a A T 3: 85,579,865 (GRCm39) L780* probably null Het
Gm11569 C A 11: 99,689,657 (GRCm39) probably benign Het
Gprc6a C T 10: 51,507,412 (GRCm39) G39D probably damaging Het
Igkv6-17 A G 6: 70,348,692 (GRCm39) D21G probably benign Het
Klra4 T C 6: 130,039,182 (GRCm39) Q70R probably damaging Het
Krtap31-2 C T 11: 99,827,549 (GRCm39) S127F possibly damaging Het
Lingo4 G T 3: 94,306,662 (GRCm39) probably benign Het
Lrp2bp A G 8: 46,466,151 (GRCm39) K87E possibly damaging Het
Macf1 A T 4: 123,266,231 (GRCm39) M5333K probably damaging Het
Muc16 G A 9: 18,471,282 (GRCm39) P7261S probably benign Het
Nostrin G T 2: 69,005,856 (GRCm39) M212I probably benign Het
Nr1h5 G A 3: 102,865,677 (GRCm39) T8M possibly damaging Het
Nup153 A T 13: 46,870,792 (GRCm39) L41H probably damaging Het
Or10b1 T C 10: 78,355,802 (GRCm39) L120P noncoding transcript Het
Or5b97 T A 19: 12,878,653 (GRCm39) I164L probably benign Het
Pappa A T 4: 65,099,278 (GRCm39) D599V probably damaging Het
Pcdh18 G A 3: 49,710,364 (GRCm39) T317I probably benign Het
Pcsk5 T A 19: 17,434,150 (GRCm39) N1406I possibly damaging Het
Pik3c2a A T 7: 115,961,419 (GRCm39) Y1027N probably damaging Het
Prpf6 T A 2: 181,257,844 (GRCm39) Y105* probably null Het
Rab5a C T 17: 53,804,650 (GRCm39) P87S probably damaging Het
Rnf8 T A 17: 29,854,843 (GRCm39) W433R probably damaging Het
Slc18b1 T A 10: 23,692,227 (GRCm39) V232D probably benign Het
Taf11 C A 17: 28,126,492 (GRCm39) A52S probably benign Het
Thoc2l T C 5: 104,665,555 (GRCm39) F26L probably benign Het
Trav9-2 T C 14: 53,828,819 (GRCm39) L63P possibly damaging Het
Zfat T C 15: 67,956,235 (GRCm39) Y1199C 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
R6102:Mmp13 UTSW 9 7,276,688 (GRCm39) missense probably benign 0.07
R6693:Mmp13 UTSW 9 7,280,245 (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'- CATTCAGCTATCCTGGCCAC -3'
(R):5'- TGTATTCACCCACATCAGGCAC -3'

Sequencing Primer
(F):5'- AGCTGGACTCCCTGTTGGTC -3'
(R):5'- ATCAGGCACTCCACATCTTG -3'
Posted On 2018-08-29