Incidental Mutation 'R0388:Mmp19'
ID 31424
Institutional Source Beutler Lab
Gene Symbol Mmp19
Ensembl Gene ENSMUSG00000025355
Gene Name matrix metallopeptidase 19
MMRRC Submission 038594-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.363) question?
Stock # R0388 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128626779-128636693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 128634752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 456 (R456L)
Ref Sequence ENSEMBL: ENSMUSP00000026411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026411] [ENSMUST00000051011] [ENSMUST00000139227] [ENSMUST00000219404]
AlphaFold Q9JHI0
Predicted Effect probably benign
Transcript: ENSMUST00000026411
AA Change: R456L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000026411
Gene: ENSMUSG00000025355
AA Change: R456L

signal peptide 1 18 N/A INTRINSIC
Pfam:PG_binding_1 26 81 6.7e-10 PFAM
ZnMc 101 258 5.13e-43 SMART
low complexity region 262 271 N/A INTRINSIC
HX 293 335 8.97e-8 SMART
HX 337 378 1e-5 SMART
HX 380 427 1.87e-5 SMART
HX 429 471 3.7e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000051011
SMART Domains Protein: ENSMUSP00000050451
Gene: ENSMUSG00000047090

Pfam:DUF4203 43 240 2.4e-47 PFAM
low complexity region 257 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139227
SMART Domains Protein: ENSMUSP00000118082
Gene: ENSMUSG00000047090

Pfam:DUF4203 42 96 4.5e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152966
SMART Domains Protein: ENSMUSP00000117574
Gene: ENSMUSG00000047090

Pfam:DUF4203 42 241 1.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219404
AA Change: R384L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219535
Meta Mutation Damage Score 0.3111 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (67/67)
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. Mice lacking the encoded protein develop a diet-induced obesity due to adipocyte hypertophy, exhibit decreased susceptibility to chemical carcinogen-induced skin tumors and early onset of tumoral angiogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for one knock-out allele develop diet-induced obesity due to adipocyte hypertrophy and display decreased incidence of chemically-induced fibrosarcomas while another knock-out mutant shows a reduced inflammatory reaction to contact hypersensitivity and abnormal T cell differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,516,347 (GRCm39) K678R probably damaging Het
Adgrg6 A G 10: 14,326,402 (GRCm39) I410T probably benign Het
Afap1l2 A C 19: 56,905,674 (GRCm39) probably benign Het
Aox1 T C 1: 58,393,565 (GRCm39) Y1242H probably damaging Het
Apoo-ps T C 13: 107,551,173 (GRCm39) noncoding transcript Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cdh3 C A 8: 107,265,761 (GRCm39) T268K probably damaging Het
Chd5 T A 4: 152,456,101 (GRCm39) H923Q probably damaging Het
Chd7 T C 4: 8,854,560 (GRCm39) V1967A probably benign Het
Cntn3 T C 6: 102,254,277 (GRCm39) M222V probably damaging Het
Dcaf17 A G 2: 70,908,915 (GRCm39) K277R probably benign Het
Dmbt1 T C 7: 130,697,779 (GRCm39) probably benign Het
Dmpk T A 7: 18,818,002 (GRCm39) probably benign Het
Dzank1 A T 2: 144,318,026 (GRCm39) L714Q possibly damaging Het
Efcab3 A G 11: 105,000,227 (GRCm39) D272G possibly damaging Het
Erbb2 G C 11: 98,318,177 (GRCm39) R471P possibly damaging Het
Esf1 T A 2: 139,962,791 (GRCm39) Y760F possibly damaging Het
Fanci C A 7: 79,089,378 (GRCm39) T938K probably benign Het
Gnai3 A G 3: 108,023,073 (GRCm39) probably benign Het
Hspg2 T A 4: 137,238,469 (GRCm39) C319S probably damaging Het
Il12a T A 3: 68,602,520 (GRCm39) probably null Het
Inpp4a A G 1: 37,435,241 (GRCm39) D837G probably damaging Het
Kcnj5 T A 9: 32,229,159 (GRCm39) E13V probably damaging Het
Kcnq3 T A 15: 65,871,887 (GRCm39) Y594F probably benign Het
Kif16b T C 2: 142,582,857 (GRCm39) E556G probably damaging Het
Kif28 T C 1: 179,567,654 (GRCm39) I39V possibly damaging Het
Lgi2 T C 5: 52,711,891 (GRCm39) E143G probably damaging Het
Mast1 T G 8: 85,642,166 (GRCm39) I1063L probably benign Het
Med12l T C 3: 59,000,925 (GRCm39) probably benign Het
Mon1b T A 8: 114,365,710 (GRCm39) V346E probably damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Mrgpra9 A T 7: 46,902,542 (GRCm39) M1K probably null Het
Mycbp2 A T 14: 103,394,103 (GRCm39) H2819Q probably benign Het
Nav1 A C 1: 135,376,655 (GRCm39) probably benign Het
Neurl4 T C 11: 69,802,559 (GRCm39) probably benign Het
Ntng2 G C 2: 29,097,438 (GRCm39) P341R probably damaging Het
Oas1d A T 5: 121,055,091 (GRCm39) Y221F probably damaging Het
Or1j19 C A 2: 36,676,874 (GRCm39) D112E probably benign Het
Or1l4 A C 2: 37,092,196 (GRCm39) probably null Het
Or5al6 A G 2: 85,976,974 (GRCm39) Y35H probably damaging Het
Osbpl8 A G 10: 111,108,143 (GRCm39) M380V probably benign Het
Pank1 T C 19: 34,799,106 (GRCm39) probably benign Het
Parn T C 16: 13,472,340 (GRCm39) D169G possibly damaging Het
Pknox1 T A 17: 31,822,166 (GRCm39) I311N probably damaging Het
Pprc1 T C 19: 46,051,214 (GRCm39) V248A possibly damaging Het
Prkcq T C 2: 11,259,045 (GRCm39) C322R probably benign Het
Ptpn13 T A 5: 103,702,928 (GRCm39) I1298N probably benign Het
Rab11fip3 A G 17: 26,288,046 (GRCm39) S36P probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sass6 C A 3: 116,400,957 (GRCm39) probably benign Het
Shroom3 G A 5: 93,099,152 (GRCm39) G1463D probably benign Het
Slc35d1 A T 4: 103,042,084 (GRCm39) Y249* probably null Het
Slc9a3 C T 13: 74,269,655 (GRCm39) P8S unknown Het
Slc9a9 T A 9: 94,821,616 (GRCm39) probably null Het
Sting1 A G 18: 35,868,164 (GRCm39) probably null Het
Syne2 T A 12: 76,033,749 (GRCm39) M3666K probably benign Het
Synpo2 A G 3: 122,873,546 (GRCm39) V1140A probably benign Het
Thada A G 17: 84,538,524 (GRCm39) F1495L probably benign Het
Timeless A G 10: 128,077,294 (GRCm39) probably null Het
Tlr6 G T 5: 65,112,548 (GRCm39) H120N possibly damaging Het
Tns3 T C 11: 8,395,703 (GRCm39) I1234V probably benign Het
Ttll9 A G 2: 152,842,099 (GRCm39) S318G probably benign Het
Vps13c T C 9: 67,830,197 (GRCm39) probably benign Het
Zfp933 T C 4: 147,910,899 (GRCm39) I232M probably benign Het
Zfyve27 T C 19: 42,178,024 (GRCm39) S382P probably damaging Het
Other mutations in Mmp19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Mmp19 APN 10 128,634,011 (GRCm39) missense probably damaging 0.99
IGL01654:Mmp19 APN 10 128,634,389 (GRCm39) missense probably damaging 1.00
IGL02009:Mmp19 APN 10 128,634,356 (GRCm39) missense probably benign
IGL02110:Mmp19 APN 10 128,630,727 (GRCm39) missense probably damaging 0.97
H8562:Mmp19 UTSW 10 128,631,470 (GRCm39) missense probably benign
I0000:Mmp19 UTSW 10 128,634,329 (GRCm39) missense probably benign 0.38
R0183:Mmp19 UTSW 10 128,634,872 (GRCm39) missense possibly damaging 0.49
R1481:Mmp19 UTSW 10 128,634,047 (GRCm39) missense possibly damaging 0.82
R2073:Mmp19 UTSW 10 128,630,848 (GRCm39) missense probably damaging 1.00
R2443:Mmp19 UTSW 10 128,634,725 (GRCm39) missense possibly damaging 0.46
R2495:Mmp19 UTSW 10 128,626,819 (GRCm39) utr 5 prime probably benign
R4477:Mmp19 UTSW 10 128,631,506 (GRCm39) missense probably benign 0.01
R5293:Mmp19 UTSW 10 128,626,970 (GRCm39) missense probably damaging 1.00
R6567:Mmp19 UTSW 10 128,632,275 (GRCm39) missense probably benign
R6932:Mmp19 UTSW 10 128,627,523 (GRCm39) missense probably benign 0.16
R7338:Mmp19 UTSW 10 128,634,952 (GRCm39) missense probably benign 0.00
R7611:Mmp19 UTSW 10 128,634,857 (GRCm39) missense probably benign
R8515:Mmp19 UTSW 10 128,631,471 (GRCm39) missense probably benign 0.01
R8704:Mmp19 UTSW 10 128,634,703 (GRCm39) missense probably benign 0.06
R9417:Mmp19 UTSW 10 128,630,523 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-04-24