Incidental Mutation 'R2071:Mmp12'
ID 227141
Institutional Source Beutler Lab
Gene Symbol Mmp12
Ensembl Gene ENSMUSG00000049723
Gene Name matrix metallopeptidase 12
Synonyms MMP12, Mmel, macrophage elastase
MMRRC Submission 040076-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R2071 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 7344397-7360461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7349725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 52 (I52N)
Ref Sequence ENSEMBL: ENSMUSP00000116080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005950] [ENSMUST00000065079] [ENSMUST00000120655] [ENSMUST00000127722] [ENSMUST00000150167]
AlphaFold P34960
Predicted Effect probably damaging
Transcript: ENSMUST00000005950
AA Change: I122N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005950
Gene: ENSMUSG00000049723
AA Change: I122N

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:PG_binding_1 30 91 7.6e-22 PFAM
ZnMc 109 268 2.76e-57 SMART
low complexity region 269 284 N/A INTRINSIC
HX 292 334 1.44e-6 SMART
HX 336 379 2.03e-6 SMART
HX 384 431 2.29e-14 SMART
HX 433 473 2.94e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000065079
AA Change: I122N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065291
Gene: ENSMUSG00000049723
AA Change: I122N

DomainStartEndE-ValueType
Pfam:PG_binding_1 30 91 6.5e-22 PFAM
ZnMc 109 268 1.23e-54 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120655
AA Change: I52N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114129
Gene: ENSMUSG00000049723
AA Change: I52N

DomainStartEndE-ValueType
Pfam:PG_binding_1 1 21 9.1e-9 PFAM
ZnMc 39 198 2.76e-57 SMART
low complexity region 199 214 N/A INTRINSIC
HX 222 264 1.44e-6 SMART
HX 266 309 2.03e-6 SMART
HX 314 361 2.29e-14 SMART
HX 363 403 2.94e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127722
SMART Domains Protein: ENSMUSP00000120225
Gene: ENSMUSG00000049723

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148005
Predicted Effect probably damaging
Transcript: ENSMUST00000150167
AA Change: I52N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116080
Gene: ENSMUSG00000049723
AA Change: I52N

DomainStartEndE-ValueType
Pfam:PG_binding_1 1 21 7.3e-10 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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 have a diminished capacity to degrade extracellular matrix components, do not develop emphysema in response to long-term exposure to cigarette smoke, and exhibit impaired clearance and increased mortality upon bacterial infection. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased sensitivity to cigarette smoke, decreased littler size, abnormal myelination, abnormal macrophage physiology, and decreased oligodedrocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik T A 1: 57,422,474 (GRCm39) H283Q probably damaging Het
2810021J22Rik A G 11: 58,767,595 (GRCm39) K31E probably damaging Het
Abcc10 G C 17: 46,614,491 (GRCm39) N1477K probably benign Het
Adam33 T C 2: 130,897,266 (GRCm39) T310A probably benign Het
Afm A G 5: 90,671,594 (GRCm39) D92G probably benign Het
Arg1 C T 10: 24,798,561 (GRCm39) A30T probably benign Het
Ash1l C G 3: 88,873,510 (GRCm39) P98A probably damaging Het
Atad5 A T 11: 79,988,878 (GRCm39) probably null Het
Atg2a T C 19: 6,307,488 (GRCm39) V1474A probably benign Het
Atp12a A G 14: 56,603,466 (GRCm39) K24E probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
B3gnt4 A T 5: 123,649,433 (GRCm39) H266L probably benign Het
Bora T C 14: 99,299,714 (GRCm39) S229P probably damaging Het
Ccn1 C T 3: 145,354,428 (GRCm39) W161* probably null Het
Cdsn A T 17: 35,865,591 (GRCm39) D40V probably damaging Het
Cep295 T C 9: 15,252,860 (GRCm39) R323G probably damaging Het
Chek2 T C 5: 110,989,112 (GRCm39) probably benign Het
Chga A T 12: 102,529,122 (GRCm39) K366N probably damaging Het
Chrm5 T C 2: 112,309,572 (GRCm39) K515E probably null Het
Cmtr1 A G 17: 29,913,757 (GRCm39) probably null Het
Dsg3 T C 18: 20,669,882 (GRCm39) L632S probably damaging Het
Eif1ad8 T A 12: 87,563,822 (GRCm39) F52L probably benign Het
Fzd3 A G 14: 65,473,012 (GRCm39) F252S probably damaging Het
Gas2l2 T C 11: 83,312,775 (GRCm39) K846E probably benign Het
Gpatch11 T C 17: 79,148,514 (GRCm39) probably null Het
Gucy2g T A 19: 55,210,772 (GRCm39) Y661F possibly damaging Het
Hhip A G 8: 80,783,931 (GRCm39) F72L probably benign Het
Kat14 T C 2: 144,231,136 (GRCm39) L181P probably damaging Het
Kifc3 A T 8: 95,834,981 (GRCm39) probably null Het
Kntc1 G T 5: 123,932,340 (GRCm39) probably null Het
Man2b1 G T 8: 85,812,013 (GRCm39) V156L possibly damaging Het
Mast1 T C 8: 85,647,823 (GRCm39) D517G probably damaging Het
Mc1r T C 8: 124,135,108 (GRCm39) L287P possibly damaging Het
Mctp1 A T 13: 76,907,843 (GRCm39) E238V probably damaging Het
Morc1 C T 16: 48,412,974 (GRCm39) T705I probably benign Het
Mrpl24 T C 3: 87,830,374 (GRCm39) probably null Het
Nap1l1 C T 10: 111,328,761 (GRCm39) T230I possibly damaging Het
Niban1 T C 1: 151,512,181 (GRCm39) F28L probably damaging Het
Nmral1 T A 16: 4,534,211 (GRCm39) I77F probably damaging Het
Nudt13 T A 14: 20,354,045 (GRCm39) D36E probably damaging Het
Oxsm A G 14: 16,241,983 (GRCm38) L262P probably benign Het
Pde10a A T 17: 9,180,827 (GRCm39) I754F probably benign Het
Pdzph1 T C 17: 59,281,092 (GRCm39) R397G probably benign Het
Pgap6 T C 17: 26,341,017 (GRCm39) Y176H probably damaging Het
Polr1a T A 6: 71,953,058 (GRCm39) V567E possibly damaging Het
Pou3f2 A G 4: 22,488,076 (GRCm39) V19A probably benign Het
Pramel34 T G 5: 93,784,375 (GRCm39) Q363P probably damaging Het
Pth1r A G 9: 110,556,081 (GRCm39) I264T probably benign Het
Ptprn C A 1: 75,231,788 (GRCm39) G504C probably damaging Het
Rbak A G 5: 143,162,339 (GRCm39) L8P probably damaging Het
Rev3l T A 10: 39,700,349 (GRCm39) D1615E probably benign Het
Rhob A G 12: 8,549,232 (GRCm39) M134T probably benign Het
Slc10a4 T C 5: 73,164,840 (GRCm39) L144P probably damaging Het
Slc45a3 T C 1: 131,905,370 (GRCm39) L131P probably damaging Het
Slf1 T A 13: 77,252,743 (GRCm39) E259D probably benign Het
Slitrk5 A G 14: 111,917,621 (GRCm39) Y415C probably damaging Het
Sohlh2 A G 3: 55,115,043 (GRCm39) I343V probably benign Het
Sorl1 T C 9: 41,890,753 (GRCm39) D1922G possibly damaging Het
Spats2l T A 1: 57,979,623 (GRCm39) I243N possibly damaging Het
Specc1 A C 11: 62,008,701 (GRCm39) K152N probably damaging Het
Sv2a G A 3: 96,101,191 (GRCm39) A730T possibly damaging Het
Tars2 C A 3: 95,654,950 (GRCm39) G113C probably damaging Het
Tcstv2b A T 13: 120,373,836 (GRCm39) D151E probably benign Het
Tep1 T C 14: 51,091,739 (GRCm39) K601E probably benign Het
Trp53 A G 11: 69,480,458 (GRCm39) D278G probably damaging Het
Ttc39d G A 17: 80,524,030 (GRCm39) G230R probably damaging Het
Tubb2b T A 13: 34,312,244 (GRCm39) Y183F probably damaging Het
Ubxn7 T A 16: 32,191,287 (GRCm39) C160S possibly damaging Het
Vcp A G 4: 42,995,894 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,658,995 (GRCm39) F70L probably benign Het
Vmn1r49 C T 6: 90,049,184 (GRCm39) V273I probably benign Het
Vmn2r103 A T 17: 20,014,056 (GRCm39) I283L probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfp408 A G 2: 91,476,363 (GRCm39) F364L probably damaging Het
Zfyve26 A G 12: 79,334,220 (GRCm39) L266P possibly damaging Het
Other mutations in Mmp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01510:Mmp12 APN 9 7,358,307 (GRCm39) missense possibly damaging 0.57
IGL03047:Mmp12 APN 9 7,357,797 (GRCm39) splice site probably benign
IGL03224:Mmp12 APN 9 7,350,002 (GRCm39) unclassified probably benign
IGL03247:Mmp12 APN 9 7,348,631 (GRCm39) missense probably benign 0.05
R0050:Mmp12 UTSW 9 7,350,152 (GRCm39) unclassified probably benign
R0480:Mmp12 UTSW 9 7,350,016 (GRCm39) missense probably damaging 1.00
R0729:Mmp12 UTSW 9 7,358,290 (GRCm39) missense possibly damaging 0.82
R0800:Mmp12 UTSW 9 7,357,827 (GRCm39) missense possibly damaging 0.74
R1114:Mmp12 UTSW 9 7,358,289 (GRCm39) missense possibly damaging 0.69
R1441:Mmp12 UTSW 9 7,354,787 (GRCm39) missense probably damaging 0.98
R1765:Mmp12 UTSW 9 7,354,772 (GRCm39) missense probably damaging 1.00
R2102:Mmp12 UTSW 9 7,349,802 (GRCm39) missense probably damaging 1.00
R2882:Mmp12 UTSW 9 7,358,236 (GRCm39) missense probably damaging 1.00
R2936:Mmp12 UTSW 9 7,357,819 (GRCm39) missense probably benign
R4645:Mmp12 UTSW 9 7,347,515 (GRCm39) missense probably benign 0.04
R5210:Mmp12 UTSW 9 7,349,729 (GRCm39) nonsense probably null
R5499:Mmp12 UTSW 9 7,353,000 (GRCm39) missense probably benign 0.02
R5774:Mmp12 UTSW 9 7,354,823 (GRCm39) missense possibly damaging 0.84
R5778:Mmp12 UTSW 9 7,350,106 (GRCm39) missense probably damaging 1.00
R5841:Mmp12 UTSW 9 7,347,501 (GRCm39) missense possibly damaging 0.93
R5869:Mmp12 UTSW 9 7,348,446 (GRCm39) intron probably benign
R6044:Mmp12 UTSW 9 7,350,050 (GRCm39) missense possibly damaging 0.94
R6494:Mmp12 UTSW 9 7,353,479 (GRCm39) missense probably damaging 0.99
R6651:Mmp12 UTSW 9 7,355,345 (GRCm39) missense possibly damaging 0.62
R7057:Mmp12 UTSW 9 7,369,173 (GRCm39) missense probably benign 0.33
R7057:Mmp12 UTSW 9 7,357,840 (GRCm39) missense probably damaging 1.00
R8938:Mmp12 UTSW 9 7,348,446 (GRCm39) intron probably benign
R9024:Mmp12 UTSW 9 7,355,444 (GRCm39) missense probably damaging 1.00
R9630:Mmp12 UTSW 9 7,347,516 (GRCm39) missense probably benign 0.02
X0062:Mmp12 UTSW 9 7,353,013 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGTCAGTCAGTACAGAGCAGAG -3'
(R):5'- AGGGCATCTCAGGTCATCAC -3'

Sequencing Primer
(F):5'- AATGTGAAATTTTGGCACATTGGG -3'
(R):5'- TCTCAGGTCATCACACATAATGG -3'
Posted On 2014-09-17