Incidental Mutation 'R0148:Mmp15'
ID 60879
Institutional Source Beutler Lab
Gene Symbol Mmp15
Ensembl Gene ENSMUSG00000031790
Gene Name matrix metallopeptidase 15
Synonyms MT2-MMP, Membrane type 2-MMP
MMRRC Submission 038432-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0148 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 96078924-96100921 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96098945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 591 (N591Y)
Ref Sequence ENSEMBL: ENSMUSP00000034243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034243]
AlphaFold O54732
Predicted Effect probably benign
Transcript: ENSMUST00000034243
AA Change: N591Y

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: N591Y

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
Pfam:PG_binding_1 42 102 3.2e-13 PFAM
ZnMc 131 301 5.31e-59 SMART
low complexity region 306 353 N/A INTRINSIC
HX 370 413 5.92e-8 SMART
HX 415 459 2.31e-10 SMART
HX 462 508 2.98e-13 SMART
HX 510 555 2.01e-10 SMART
Pfam:DUF3377 586 657 1.2e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212235
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 86% (30/35)
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. A deficiency of the encoded protein in mice is compatible with normal development and postnatal growth. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,639,405 (GRCm39) probably null Het
Agtr1a T C 13: 30,565,927 (GRCm39) S331P probably benign Het
Ank1 T A 8: 23,613,993 (GRCm39) N1545K probably damaging Het
Bahcc1 A T 11: 120,159,230 (GRCm39) Q152H probably damaging Het
Bend3 T A 10: 43,387,946 (GRCm39) Y780N probably damaging Het
Bod1l G T 5: 41,976,040 (GRCm39) A1758E possibly damaging Het
Ctcfl T C 2: 172,960,340 (GRCm39) D81G possibly damaging Het
Ddx39a C T 8: 84,449,105 (GRCm39) R298C possibly damaging Het
Dock8 T C 19: 25,096,823 (GRCm39) L577P probably benign Het
Drc1 A T 5: 30,486,487 (GRCm39) N13I possibly damaging Het
Efl1 T C 7: 82,320,878 (GRCm39) S104P probably damaging Het
Eml4 T A 17: 83,729,081 (GRCm39) N85K probably damaging Het
Epb41l4a T C 18: 33,931,853 (GRCm39) T581A probably damaging Het
Epha3 T C 16: 63,433,307 (GRCm39) D446G possibly damaging Het
Fam209 G T 2: 172,315,900 (GRCm39) G92C probably damaging Het
Fbln1 G A 15: 85,115,027 (GRCm39) R193H probably damaging Het
Fbxw21 A G 9: 108,977,085 (GRCm39) probably null Het
Fgf17 C T 14: 70,876,313 (GRCm39) R49Q probably damaging Het
Flnb T C 14: 7,939,077 (GRCm38) S2307P probably benign Het
Galr1 A G 18: 82,423,695 (GRCm39) L194P probably benign Het
Gar1 T C 3: 129,623,122 (GRCm39) H89R probably damaging Het
Gbp4 T A 5: 105,267,362 (GRCm39) Y519F probably benign Het
Git1 A G 11: 77,396,554 (GRCm39) T601A probably benign Het
Gm10722 T "C,A" 9: 3,001,405 (GRCm39) probably null Het
Gm5142 C T 14: 59,416,119 (GRCm39) R13H possibly damaging Het
Gria2 A C 3: 80,615,038 (GRCm39) W481G probably damaging Het
Homer2 T C 7: 81,274,026 (GRCm39) T57A probably benign Het
Hpse2 A C 19: 42,920,099 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,302 (GRCm39) I148T probably damaging Het
Htr1d C A 4: 136,170,788 (GRCm39) T339K probably damaging Het
Il4ra T A 7: 125,174,709 (GRCm39) C306S probably damaging Het
Kansl3 A T 1: 36,392,897 (GRCm39) C225S probably damaging Het
Lama3 G A 18: 12,581,329 (GRCm39) C596Y probably damaging Het
Lama5 T C 2: 179,832,199 (GRCm39) H1714R probably benign Het
Marchf6 C T 15: 31,490,758 (GRCm39) V293M probably damaging Het
Med12l A G 3: 58,945,075 (GRCm39) D100G probably damaging Het
Mettl14 G A 3: 123,165,043 (GRCm39) T316I probably damaging Het
Mrpl53 T C 6: 83,086,518 (GRCm39) L74P probably damaging Het
Mvp C T 7: 126,589,037 (GRCm39) V577M probably damaging Het
Neb T C 2: 52,139,388 (GRCm39) K140E probably damaging Het
Nfya A G 17: 48,706,026 (GRCm39) V48A possibly damaging Het
Ngf G T 3: 102,417,119 (GRCm39) probably benign Het
Nipsnap3b C T 4: 53,017,088 (GRCm39) A104V possibly damaging Het
Nlrp14 A G 7: 106,781,928 (GRCm39) Y375C probably benign Het
Nod1 A G 6: 54,915,202 (GRCm39) Y764H probably damaging Het
Or13d1 A T 4: 52,971,232 (GRCm39) I204F probably benign Het
Or2w25 G A 11: 59,504,320 (GRCm39) V177M probably damaging Het
Or7e177 T G 9: 20,212,387 (GRCm39) M297R probably damaging Het
Pcdhb19 A T 18: 37,630,235 (GRCm39) Q10L probably benign Het
Pdcl T C 2: 37,242,142 (GRCm39) I203V probably benign Het
Peg10 C A 6: 4,755,711 (GRCm39) R96S possibly damaging Het
Pknox1 T A 17: 31,823,764 (GRCm39) N379K probably benign Het
Prodh T G 16: 17,895,677 (GRCm39) Q360P probably damaging Het
Raf1 C T 6: 115,609,934 (GRCm39) G202S probably benign Het
Rgs11 T A 17: 26,426,433 (GRCm39) probably null Het
Rilp A T 11: 75,401,059 (GRCm39) H29L probably damaging Het
Rtel1 T C 2: 180,962,839 (GRCm39) C31R probably damaging Het
Rubcnl T A 14: 75,279,898 (GRCm39) I427K probably damaging Het
Ryr1 C A 7: 28,751,460 (GRCm39) R3706L probably damaging Het
Ryr2 T C 13: 11,729,434 (GRCm39) D2396G probably damaging Het
Slc45a2 T C 15: 11,025,954 (GRCm39) S435P probably damaging Het
Spata17 A G 1: 186,844,798 (GRCm39) V111A probably damaging Het
Svep1 C T 4: 58,116,608 (GRCm39) D881N possibly damaging Het
Sypl2 T A 3: 108,126,411 (GRCm39) N67I possibly damaging Het
Tenm3 T C 8: 48,689,755 (GRCm39) Y1944C probably damaging Het
Tep1 A T 14: 51,062,246 (GRCm39) D2535E possibly damaging Het
Tkt T A 14: 30,294,177 (GRCm39) I529N probably damaging Het
Trp53i11 T G 2: 93,028,080 (GRCm39) V39G probably damaging Het
Trpm2 C T 10: 77,761,659 (GRCm39) G997D probably damaging Het
Usp3 A G 9: 66,447,449 (GRCm39) V219A possibly damaging Het
Usp4 T A 9: 108,268,870 (GRCm39) probably null Het
Wdfy3 A G 5: 102,065,277 (GRCm39) V1297A probably benign Het
Wdr46 T A 17: 34,159,997 (GRCm39) F70I probably benign Het
Xkr6 T C 14: 64,056,998 (GRCm39) V303A unknown Het
Zdbf2 C T 1: 63,343,165 (GRCm39) Q515* probably null Het
Zfhx2 A G 14: 55,310,354 (GRCm39) Y731H possibly damaging Het
Other mutations in Mmp15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01467:Mmp15 APN 8 96,092,959 (GRCm39) missense probably benign 0.31
IGL03001:Mmp15 APN 8 96,094,845 (GRCm39) missense probably damaging 0.97
R0147:Mmp15 UTSW 8 96,098,945 (GRCm39) missense probably benign 0.18
R0437:Mmp15 UTSW 8 96,097,400 (GRCm39) missense probably benign 0.04
R0465:Mmp15 UTSW 8 96,094,626 (GRCm39) missense probably damaging 1.00
R0548:Mmp15 UTSW 8 96,098,979 (GRCm39) missense probably damaging 1.00
R0574:Mmp15 UTSW 8 96,092,029 (GRCm39) missense possibly damaging 0.73
R0685:Mmp15 UTSW 8 96,098,762 (GRCm39) missense possibly damaging 0.81
R0763:Mmp15 UTSW 8 96,094,856 (GRCm39) missense probably benign 0.01
R1341:Mmp15 UTSW 8 96,098,931 (GRCm39) missense probably benign 0.03
R1428:Mmp15 UTSW 8 96,096,190 (GRCm39) missense probably benign 0.34
R1840:Mmp15 UTSW 8 96,092,048 (GRCm39) missense probably damaging 1.00
R2061:Mmp15 UTSW 8 96,097,407 (GRCm39) missense possibly damaging 0.91
R2219:Mmp15 UTSW 8 96,096,801 (GRCm39) missense probably benign 0.38
R4760:Mmp15 UTSW 8 96,094,824 (GRCm39) missense possibly damaging 0.61
R4762:Mmp15 UTSW 8 96,098,958 (GRCm39) missense probably benign 0.00
R5233:Mmp15 UTSW 8 96,097,696 (GRCm39) missense probably benign 0.08
R5394:Mmp15 UTSW 8 96,093,032 (GRCm39) missense probably damaging 0.96
R5502:Mmp15 UTSW 8 96,094,812 (GRCm39) missense possibly damaging 0.96
R5543:Mmp15 UTSW 8 96,094,729 (GRCm39) missense possibly damaging 0.85
R6027:Mmp15 UTSW 8 96,098,804 (GRCm39) missense probably benign 0.00
R6341:Mmp15 UTSW 8 96,092,091 (GRCm39) critical splice donor site probably null
R6720:Mmp15 UTSW 8 96,091,942 (GRCm39) missense probably benign 0.22
R7788:Mmp15 UTSW 8 96,094,776 (GRCm39) missense probably damaging 1.00
R8033:Mmp15 UTSW 8 96,094,590 (GRCm39) missense probably benign 0.01
R8679:Mmp15 UTSW 8 96,092,982 (GRCm39) missense possibly damaging 0.83
R8791:Mmp15 UTSW 8 96,096,288 (GRCm39) nonsense probably null
R9028:Mmp15 UTSW 8 96,096,316 (GRCm39) missense probably benign 0.01
R9227:Mmp15 UTSW 8 96,092,959 (GRCm39) missense probably benign 0.06
R9230:Mmp15 UTSW 8 96,092,959 (GRCm39) missense probably benign 0.06
R9350:Mmp15 UTSW 8 96,093,002 (GRCm39) missense probably damaging 0.97
R9632:Mmp15 UTSW 8 96,098,731 (GRCm39) critical splice acceptor site probably null
R9695:Mmp15 UTSW 8 96,097,414 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- AACGAACGCCTACGGATGGAAC -3'
(R):5'- AGATCTCAAAGCATCTCCTGGCCC -3'

Sequencing Primer
(F):5'- TACGGATGGAACCCGGC -3'
(R):5'- GGGTGCTACCTGATCACAC -3'
Posted On 2013-07-24