Incidental Mutation 'R7611:Mmp19'
ID 588615
Institutional Source Beutler Lab
Gene Symbol Mmp19
Ensembl Gene ENSMUSG00000025355
Gene Name matrix metallopeptidase 19
Synonyms
MMRRC Submission 045715-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.363) question?
Stock # R7611 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 128626779-128636693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128634857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 491 (D491G)
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: D491G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026411
Gene: ENSMUSG00000025355
AA Change: D491G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:DUF4203 42 96 4.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219404
AA Change: D419G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Adcy8 C T 15: 64,792,882 (GRCm39) G25S probably benign Het
Ahnak2 G T 12: 112,751,749 (GRCm39) D35E Het
Birc6 T C 17: 74,969,713 (GRCm39) M4261T probably damaging Het
Caln1 T G 5: 130,534,918 (GRCm39) F45V probably damaging Het
Camta2 A T 11: 70,572,372 (GRCm39) I313N possibly damaging Het
Capns1 T A 7: 29,889,539 (GRCm39) E220V probably damaging Het
Carmil1 C A 13: 24,197,315 (GRCm39) V1374L probably benign Het
Casp2 T G 6: 42,250,972 (GRCm39) L290R possibly damaging Het
Cdkn2b C A 4: 89,228,980 (GRCm39) V19L probably benign Het
Ces1c T C 8: 93,851,139 (GRCm39) N162D probably benign Het
Cfap96 A G 8: 46,423,488 (GRCm39) Y75H probably damaging Het
Chd9 T C 8: 91,763,017 (GRCm39) S2281P probably damaging Het
Chst13 T C 6: 90,285,999 (GRCm39) D321G probably damaging Het
Ckap2l G T 2: 129,127,600 (GRCm39) P193T possibly damaging Het
Clca4b T A 3: 144,627,757 (GRCm39) T405S probably benign Het
Cmah T C 13: 24,619,630 (GRCm39) V265A probably benign Het
Cyp3a11 A T 5: 145,797,191 (GRCm39) M396K probably benign Het
Ddr2 A T 1: 169,825,727 (GRCm39) M291K possibly damaging Het
Ddx43 T A 9: 78,309,635 (GRCm39) I145N probably benign Het
Ephb2 T A 4: 136,388,212 (GRCm39) probably null Het
Fgfr1 A T 8: 26,048,221 (GRCm39) K106* probably null Het
Gpr6 A G 10: 40,946,875 (GRCm39) F236L probably benign Het
Grin2c A G 11: 115,143,511 (GRCm39) S750P probably damaging Het
Hecw2 A G 1: 53,952,459 (GRCm39) S925P probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Hmg20b T A 10: 81,185,432 (GRCm39) probably benign Het
Kcnk10 T A 12: 98,484,899 (GRCm39) Y79F probably damaging Het
Lrrc30 A T 17: 67,939,424 (GRCm39) F52Y probably damaging Het
Lrriq1 T C 10: 103,036,432 (GRCm39) K907R possibly damaging Het
Mbd3 T C 10: 80,231,352 (GRCm39) D63G probably damaging Het
Mettl21a C T 1: 64,654,266 (GRCm39) A84T probably benign Het
Mug1 A T 6: 121,852,387 (GRCm39) probably null Het
Myh1 A T 11: 67,101,243 (GRCm39) H673L possibly damaging Het
Nlrc5 T C 8: 95,239,276 (GRCm39) probably null Het
Nme9 T A 9: 99,352,843 (GRCm39) S264R probably benign Het
Nup153 T C 13: 46,840,798 (GRCm39) T937A probably benign Het
Obsl1 T C 1: 75,482,024 (GRCm39) E282G probably damaging Het
Or1o3 A G 17: 37,573,745 (GRCm39) V270A probably benign Het
Or2w2 A G 13: 21,758,488 (GRCm39) V46A probably benign Het
Or4l15 C A 14: 50,198,368 (GRCm39) A54S probably benign Het
Or5an10 T A 19: 12,276,242 (GRCm39) M85L probably damaging Het
Or5b99 T A 19: 12,976,431 (GRCm39) I27N possibly damaging Het
Or5m5 T A 2: 85,814,407 (GRCm39) C74* probably null Het
Or8k30 T A 2: 86,339,397 (GRCm39) I198K possibly damaging Het
Pcdhga12 T C 18: 37,901,478 (GRCm39) F770S possibly damaging Het
Pfkp T A 13: 6,655,119 (GRCm39) probably null Het
Prr29 C G 11: 106,267,158 (GRCm39) H58D probably damaging Het
Ptprz1 T A 6: 23,001,219 (GRCm39) M1103K probably benign Het
Rigi T C 4: 40,225,651 (GRCm39) E250G probably damaging Het
Rsph4a C T 10: 33,781,473 (GRCm39) P108S probably benign Het
Setd1b A C 5: 123,290,657 (GRCm39) M875L unknown Het
Slc15a2 A G 16: 36,576,673 (GRCm39) S485P probably benign Het
Smoc1 A G 12: 81,226,444 (GRCm39) D423G probably damaging Het
Spast T A 17: 74,676,198 (GRCm39) V337D probably damaging Het
Spesp1 T C 9: 62,179,987 (GRCm39) K307R possibly damaging Het
Sulf1 A G 1: 12,906,467 (GRCm39) E503G probably benign Het
Susd6 T C 12: 80,921,341 (GRCm39) Y313H probably damaging Het
Them4 A T 3: 94,238,865 (GRCm39) D224V possibly damaging Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Tspear A T 10: 77,717,049 (GRCm39) T575S probably benign Het
Usp21 A T 1: 171,113,142 (GRCm39) H211Q probably benign Het
Vmn1r189 T C 13: 22,286,322 (GRCm39) S172G probably benign Het
Vmn2r114 T C 17: 23,515,944 (GRCm39) S516G probably damaging Het
Vmn2r28 T A 7: 5,484,255 (GRCm39) R648S probably benign Het
Vmn2r6 C A 3: 64,472,563 (GRCm39) V53F probably damaging Het
Vmn2r76 A G 7: 85,879,388 (GRCm39) I304T probably benign Het
Vmn2r88 A C 14: 51,651,454 (GRCm39) Y256S Het
Zfhx4 A T 3: 5,468,831 (GRCm39) K3021N probably damaging Het
Zfp647 T C 15: 76,795,988 (GRCm39) H224R probably damaging Het
Zfp865 A G 7: 5,034,130 (GRCm39) E705G 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
R0388:Mmp19 UTSW 10 128,634,752 (GRCm39) missense probably benign 0.01
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
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
(F):5'- GGAACTGTTTACTGGAGTGCC -3'
(R):5'- CACCTTCTAGGAACACAGGAATG -3'

Sequencing Primer
(F):5'- ACCCTCGGCAGCTATGAG -3'
(R):5'- TTCTAGGAACACAGGAATGTGGTATC -3'
Posted On 2019-10-24