Incidental Mutation 'R1806:Mmp10'
ID203472
Institutional Source Beutler Lab
Gene Symbol Mmp10
Ensembl Gene ENSMUSG00000047562
Gene Namematrix metallopeptidase 10
Synonymsstromelysin 2
MMRRC Submission 039835-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #R1806 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location7502352-7510240 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 7506501 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 326 (H326L)
Ref Sequence ENSEMBL: ENSMUSP00000034488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034488]
Predicted Effect probably benign
Transcript: ENSMUST00000034488
AA Change: H326L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000034488
Gene: ENSMUSG00000047562
AA Change: H326L

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 0.034 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.2%
Validation Efficiency 96% (77/80)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8430408G22Rik G A 6: 116,651,722 V9M possibly damaging Het
Adamts15 C A 9: 30,904,815 C616F probably damaging Het
Adarb1 T C 10: 77,322,265 N116S probably damaging Het
Add2 C T 6: 86,118,657 S437L probably damaging Het
Adra1d T A 2: 131,546,149 R495S probably benign Het
Agk C T 6: 40,387,495 T309I probably damaging Het
Aqr T C 2: 114,161,652 Y81C probably damaging Het
Bak1 G A 17: 27,021,268 Q142* probably null Het
Bckdha A G 7: 25,631,420 V307A probably damaging Het
Camk2n2 C A 16: 20,620,198 G72V probably benign Het
Cd276 A T 9: 58,527,562 probably benign Het
Cd2ap G A 17: 42,838,758 Q122* probably null Het
Cdan1 T A 2: 120,731,426 probably benign Het
Cdh3 T C 8: 106,536,915 S156P probably benign Het
Chil4 T A 3: 106,210,643 probably benign Het
Col11a1 C T 3: 114,158,142 R1074C probably damaging Het
Fcrlb T C 1: 170,907,527 T344A probably benign Het
Fras1 T A 5: 96,713,970 probably benign Het
Fras1 G T 5: 96,764,976 V3380F possibly damaging Het
Galnt9 A G 5: 110,619,253 D530G possibly damaging Het
Gja10 A T 4: 32,601,135 S416R probably benign Het
Gm10549 T A 18: 33,470,788 V108E unknown Het
Gm8298 T C 3: 59,877,150 L348P probably damaging Het
Hook3 A T 8: 26,068,659 L59Q probably damaging Het
Hpf1 T A 8: 60,900,120 D178E probably benign Het
Hsd17b7 T C 1: 169,961,129 N173S possibly damaging Het
Hsph1 A G 5: 149,629,989 F236L probably damaging Het
Kcnk12 G T 17: 87,746,109 T375K probably benign Het
Kdelc2 T C 9: 53,395,850 Y365H probably damaging Het
Klra3 A T 6: 130,327,070 S220T probably damaging Het
Lhx1 A T 11: 84,524,141 L12Q probably damaging Het
Lnx1 A G 5: 74,606,049 L468P probably damaging Het
Ltbp3 T A 19: 5,753,942 C827* probably null Het
Mical1 C T 10: 41,478,214 A53V probably damaging Het
Mpl A T 4: 118,443,532 M600K possibly damaging Het
Muc5b T A 7: 141,865,493 D4004E possibly damaging Het
Myo5b A T 18: 74,577,609 H98L possibly damaging Het
Nbeal1 A G 1: 60,284,092 T2110A probably damaging Het
Nedd4l C A 18: 65,212,791 R825S probably damaging Het
Ntn4 C T 10: 93,707,353 R314W probably damaging Het
Olfr1277 A T 2: 111,270,277 I30N possibly damaging Het
Olfr228 A T 2: 86,483,139 I201N probably damaging Het
Olfr596 T A 7: 103,310,225 L168Q probably damaging Het
Otog A T 7: 46,290,937 probably null Het
Parp2 T A 14: 50,819,379 L320H probably damaging Het
Pola2 C T 19: 5,943,222 probably null Het
Poln A T 5: 34,107,150 probably benign Het
Pomt1 T A 2: 32,241,668 V123E probably damaging Het
Prom2 T C 2: 127,532,882 Y578C probably damaging Het
Prss23 T C 7: 89,510,391 T157A probably damaging Het
Sdk1 T A 5: 141,613,195 V205E probably damaging Het
Sdk1 A G 5: 142,161,926 K1771R probably benign Het
Sidt1 A T 16: 44,281,871 S309T possibly damaging Het
Sirpa T A 2: 129,615,512 F169I probably damaging Het
Slc8a1 T C 17: 81,648,487 N374S probably damaging Het
Sp110 C T 1: 85,596,110 probably null Het
Stard9 A G 2: 120,679,453 probably null Het
Synpr A G 14: 13,563,082 N105S probably damaging Het
Tbc1d16 T C 11: 119,156,101 Y440C probably damaging Het
Trabd A G 15: 89,085,621 I313V possibly damaging Het
Trappc10 T C 10: 78,210,776 R430G probably damaging Het
Trim50 A G 5: 135,358,889 E145G probably benign Het
Uba2 A T 7: 34,163,199 F105I probably damaging Het
Uba3 A G 6: 97,199,269 V92A possibly damaging Het
Uhmk1 T C 1: 170,211,059 K153R probably damaging Het
Vmn2r3 T A 3: 64,275,472 M269L probably benign Het
Vmn2r3 T C 3: 64,287,389 K8R possibly damaging Het
Xpot G T 10: 121,607,638 probably benign Het
Zfp128 A G 7: 12,891,022 Y439C probably benign Het
Zfy1 T A Y: 725,620 H715L possibly damaging Het
Zmym1 A C 4: 127,048,079 L839V probably damaging 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
R0595:Mmp10 UTSW 9 7508198 missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TTGCCTGGAATCACATGTGG -3'
(R):5'- AATGCTCATTCACCAGTTCCAATC -3'

Sequencing Primer
(F):5'- CTGGAATCACATGTGGGACAATCC -3'
(R):5'- GCTCATTCACCAGTTCCAATCTGTTC -3'
Posted On2014-06-23