Incidental Mutation 'R0595:Mmp10'
ID55070
Institutional Source Beutler Lab
Gene Symbol Mmp10
Ensembl Gene ENSMUSG00000047562
Gene Namematrix metallopeptidase 10
Synonymsstromelysin 2
MMRRC Submission 038785-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #R0595 (G1)
Quality Score224
Status Validated
Chromosome9
Chromosomal Location7502352-7510240 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 7508198 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 442 (E442K)
Ref Sequence ENSEMBL: ENSMUSP00000034488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034488]
Predicted Effect probably benign
Transcript: ENSMUST00000034488
AA Change: E442K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034488
Gene: ENSMUSG00000047562
AA Change: E442K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:PG_binding_1 27 87 3.2e-12 PFAM
ZnMc 105 265 1.81e-61 SMART
HX 295 337 2.03e-6 SMART
HX 339 382 9.11e-9 SMART
HX 387 434 8.49e-18 SMART
HX 436 476 3.88e-3 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency 100% (50/50)
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 preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. The lack of encoded protein in mice promotes experimental lung cancer formation, exacerbates experimental colitis and promotes development of inflammation-associated colonic dysplasia. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,740,417 D1093E probably damaging Het
Aldh2 G T 5: 121,573,500 A276D probably damaging Het
Aldh2 C T 5: 121,573,501 A276T probably damaging Het
Aldh7a1 C T 18: 56,546,893 probably benign Het
Ano1 C T 7: 144,590,153 R964H possibly damaging Het
Apob G A 12: 8,008,369 V2251I probably benign Het
Atp6v1e1 A G 6: 120,801,130 V148A probably benign Het
Bbs9 T A 9: 22,496,815 H73Q probably benign Het
Brca1 A G 11: 101,524,887 V807A probably benign Het
Cacna1b C T 2: 24,649,989 probably benign Het
Cadps2 A T 6: 23,321,704 probably null Het
Cep152 T C 2: 125,595,063 Q519R probably damaging Het
Cep295 A C 9: 15,332,191 Y1608* probably null Het
Cfap54 T C 10: 92,884,736 I2619V unknown Het
Dnajb9 A G 12: 44,208,284 V7A probably benign Het
Ep400 T C 5: 110,703,542 K1358R unknown Het
Fbxw7 C A 3: 84,977,367 probably null Het
Fsip2 T C 2: 82,946,952 Y108H probably damaging Het
Ggt6 T A 11: 72,437,667 L331Q probably damaging Het
Ifitm1 T A 7: 140,968,329 I25N possibly damaging Het
Krt75 C T 15: 101,568,354 E367K probably damaging Het
Lifr A G 15: 7,177,469 Y487C probably damaging Het
Map3k6 G T 4: 133,241,263 G59W probably damaging Het
Mme A G 3: 63,328,181 T129A probably benign Het
Myh13 T C 11: 67,344,846 S646P probably benign Het
Nbea A T 3: 55,628,496 I2889N probably benign Het
Nlrp4d T A 7: 10,381,045 K581N probably benign Het
Nr3c2 C T 8: 76,909,604 P445S possibly damaging Het
Olfr487 A T 7: 108,211,661 N289K probably damaging Het
Pck1 T A 2: 173,157,029 V360E probably damaging Het
Plekha7 T C 7: 116,144,968 D766G probably damaging Het
Prag1 A G 8: 36,147,002 N1236S probably damaging Het
Prkdc A C 16: 15,808,088 Q3326P probably damaging Het
Prrc2b T C 2: 32,183,177 M57T probably damaging Het
Rb1 A T 14: 73,273,680 F330I probably damaging Het
Rufy4 A G 1: 74,140,930 E448G possibly damaging Het
Scn10a T A 9: 119,666,063 M371L probably benign Het
Sgta T C 10: 81,048,908 D189G probably damaging Het
Spata31d1b A G 13: 59,716,277 H413R probably benign Het
Stau2 T C 1: 16,440,450 T95A probably damaging Het
Supt4a C T 11: 87,743,156 probably null Het
Tanc2 A G 11: 105,714,177 probably null Het
Tap2 T A 17: 34,212,354 V422D probably damaging Het
Tas2r138 A G 6: 40,612,865 L149P probably damaging Het
Tex15 T C 8: 33,572,617 S692P probably damaging Het
Tgm2 C T 2: 158,143,042 R48H probably damaging Het
Ticrr T A 7: 79,695,563 F1725L possibly damaging Het
Tnpo2 T A 8: 85,052,041 C672* probably null Het
Xkr9 A G 1: 13,700,784 I175V probably benign Het
Zfp428 T A 7: 24,515,378 S140T probably benign Het
Other mutations in Mmp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Mmp10 APN 9 7505650 missense possibly damaging 0.77
steel UTSW 9 7506512 missense probably benign 0.01
R0240:Mmp10 UTSW 9 7506543 missense probably damaging 1.00
R0240:Mmp10 UTSW 9 7506543 missense probably damaging 1.00
R0503:Mmp10 UTSW 9 7507339 missense probably damaging 1.00
R1222:Mmp10 UTSW 9 7505681 splice site probably benign
R1487:Mmp10 UTSW 9 7509977 missense probably damaging 0.98
R1622:Mmp10 UTSW 9 7504995 nonsense probably null
R1669:Mmp10 UTSW 9 7505525 critical splice acceptor site probably null
R1806:Mmp10 UTSW 9 7506501 missense probably benign 0.01
R1880:Mmp10 UTSW 9 7505574 missense probably benign 0.00
R4749:Mmp10 UTSW 9 7508168 missense probably damaging 1.00
R4866:Mmp10 UTSW 9 7508189 missense probably damaging 1.00
R5231:Mmp10 UTSW 9 7502500 critical splice donor site probably null
R5367:Mmp10 UTSW 9 7505602 missense probably damaging 1.00
R5814:Mmp10 UTSW 9 7503620 missense possibly damaging 0.91
R6131:Mmp10 UTSW 9 7503632 splice site probably null
R6542:Mmp10 UTSW 9 7506512 missense probably benign 0.01
R6997:Mmp10 UTSW 9 7503530 missense probably benign 0.08
R7400:Mmp10 UTSW 9 7503300 missense probably damaging 1.00
R7513:Mmp10 UTSW 9 7508127 missense probably damaging 1.00
R7593:Mmp10 UTSW 9 7503153 missense probably damaging 1.00
R7676:Mmp10 UTSW 9 7503549 missense probably damaging 1.00
R7830:Mmp10 UTSW 9 7507283 missense probably benign 0.00
Z1176:Mmp10 UTSW 9 7508205 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACATCACACTGTGTCTGATGGGACT -3'
(R):5'- ACCTTAGACGAATTTTGCACCAGTTACA -3'

Sequencing Primer
(F):5'- ACTGTGTCTGATGGGACTTATCAC -3'
(R):5'- agggaagtgggggggag -3'
Posted On2013-07-11