Incidental Mutation 'R4595:Mmp7'
ID 344325
Institutional Source Beutler Lab
Gene Symbol Mmp7
Ensembl Gene ENSMUSG00000018623
Gene Name matrix metallopeptidase 7
Synonyms matrilysin, MAT
MMRRC Submission 041811-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R4595 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 7692091-7699586 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7697667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 234 (V234A)
Ref Sequence ENSEMBL: ENSMUSP00000018767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018767]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000018767
AA Change: V234A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018767
Gene: ENSMUSG00000018623
AA Change: V234A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:PG_binding_1 31 85 3e-11 PFAM
ZnMc 103 263 5.78e-60 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124572
Meta Mutation Damage Score 0.4358 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 94% (62/66)
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 are deficient in functional cryptdins. 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 sensitivity to induced colitis and corneal wound neovascularization, decreased sensitivity to myocardial infarction and pancreatic duct ligation, impaired tracheal wound healing, and altered tumor susceptibility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
4921536K21Rik A G 11: 3,840,052 (GRCm39) I115T probably benign Het
Acads A T 5: 115,251,123 (GRCm39) N120K probably damaging Het
Aco1 T A 4: 40,167,139 (GRCm39) C118S probably benign Het
Alpk2 T C 18: 65,422,819 (GRCm39) T1493A probably damaging Het
AU018091 A G 7: 3,208,268 (GRCm39) Y480H possibly damaging Het
Brd4 A T 17: 32,417,896 (GRCm39) I86N probably damaging Het
Ccdc180 A G 4: 45,945,023 (GRCm39) E1477G probably damaging Het
Ccne2 A G 4: 11,202,986 (GRCm39) N368S probably benign Het
Cenpp A T 13: 49,794,710 (GRCm39) F152L probably benign Het
Cfap46 T A 7: 139,232,320 (GRCm39) D881V possibly damaging Het
Chmp7 A G 14: 69,958,678 (GRCm39) V212A probably damaging Het
Col9a2 A T 4: 120,902,352 (GRCm39) K196N probably benign Het
Copg2 T C 6: 30,749,449 (GRCm39) D814G probably damaging Het
Dcaf13 G A 15: 38,982,288 (GRCm39) G85R probably damaging Het
Dnah9 A G 11: 66,058,978 (GRCm39) S106P probably benign Het
Dpp8 A G 9: 64,983,085 (GRCm39) D739G probably damaging Het
Drd2 T A 9: 49,316,089 (GRCm39) M283K probably benign Het
Espl1 A G 15: 102,207,159 (GRCm39) T208A probably benign Het
Glul G A 1: 153,778,796 (GRCm39) G35D possibly damaging Het
Gm14412 T C 2: 177,007,005 (GRCm39) K297E unknown Het
Gm21976 A T 13: 98,442,318 (GRCm39) R120W probably damaging Het
Hipk3 T A 2: 104,271,622 (GRCm39) T437S probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lipn T G 19: 34,058,750 (GRCm39) Y321D probably damaging Het
Lrwd1 A G 5: 136,152,810 (GRCm39) V484A probably benign Het
Madd T C 2: 90,998,009 (GRCm39) D673G possibly damaging Het
Marveld1 T A 19: 42,136,203 (GRCm39) L39Q probably damaging Het
Mfsd2b T C 12: 4,915,807 (GRCm39) T299A possibly damaging Het
Micu3 T C 8: 40,812,438 (GRCm39) probably benign Het
Nhsl1 T A 10: 18,403,357 (GRCm39) D1329E probably benign Het
Or4a15 C T 2: 89,193,669 (GRCm39) V35M probably damaging Het
Or4f14b T C 2: 111,774,997 (GRCm39) D268G possibly damaging Het
Or52a33 A G 7: 103,289,308 (GRCm39) F13S probably damaging Het
Pcdhb21 T A 18: 37,647,568 (GRCm39) D232E probably damaging Het
Pebp1 G T 5: 117,421,475 (GRCm39) D156E probably benign Het
Pik3cb A G 9: 98,937,459 (GRCm39) Y745H possibly damaging Het
Pld2 T C 11: 70,432,846 (GRCm39) L170P probably damaging Het
Ptch1 T C 13: 63,691,422 (GRCm39) D277G possibly damaging Het
Rab11fip1 A T 8: 27,644,603 (GRCm39) M394K probably damaging Het
Rhoq T C 17: 87,271,754 (GRCm39) Y57H probably benign Het
Setbp1 T C 18: 78,900,731 (GRCm39) I979V probably benign Het
Slc6a4 A G 11: 76,910,689 (GRCm39) I447V probably benign Het
Sos2 T C 12: 69,663,663 (GRCm39) K607R probably damaging Het
Stt3a T C 9: 36,646,808 (GRCm39) I602V probably damaging Het
Syne2 A T 12: 76,013,845 (GRCm39) Q3012L possibly damaging Het
Taf1b T A 12: 24,550,441 (GRCm39) F9I possibly damaging Het
Tex35 T A 1: 156,926,909 (GRCm39) Y195F probably benign Het
Tnc T C 4: 63,913,982 (GRCm39) T1277A probably damaging Het
Tnfsf15 G T 4: 63,648,180 (GRCm39) Y153* probably null Het
Trim5 C A 7: 103,914,639 (GRCm39) V477F probably damaging Het
Trp73 A G 4: 154,148,874 (GRCm39) I245T probably damaging Het
Zbtb16 C T 9: 48,743,380 (GRCm39) E311K possibly damaging Het
Zmynd19 A G 2: 24,849,000 (GRCm39) D165G probably damaging Het
Other mutations in Mmp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Mmp7 APN 9 7,699,335 (GRCm39) splice site probably benign
IGL01522:Mmp7 APN 9 7,692,229 (GRCm39) missense probably damaging 1.00
R1740:Mmp7 UTSW 9 7,695,278 (GRCm39) missense possibly damaging 0.92
R3118:Mmp7 UTSW 9 7,697,693 (GRCm39) missense probably benign
R3195:Mmp7 UTSW 9 7,692,219 (GRCm39) missense probably benign 0.03
R3196:Mmp7 UTSW 9 7,692,219 (GRCm39) missense probably benign 0.03
R5941:Mmp7 UTSW 9 7,697,646 (GRCm39) missense probably damaging 1.00
R6193:Mmp7 UTSW 9 7,695,519 (GRCm39) missense probably damaging 1.00
R6564:Mmp7 UTSW 9 7,695,185 (GRCm39) missense probably benign 0.02
R6995:Mmp7 UTSW 9 7,695,489 (GRCm39) missense probably damaging 0.98
R7146:Mmp7 UTSW 9 7,697,587 (GRCm39) critical splice acceptor site probably null
R7398:Mmp7 UTSW 9 7,697,594 (GRCm39) missense probably damaging 1.00
R7768:Mmp7 UTSW 9 7,697,749 (GRCm39) nonsense probably null
R9104:Mmp7 UTSW 9 7,697,947 (GRCm39) intron probably benign
R9250:Mmp7 UTSW 9 7,697,885 (GRCm39) intron probably benign
Z1176:Mmp7 UTSW 9 7,695,603 (GRCm39) missense probably damaging 1.00
Z1177:Mmp7 UTSW 9 7,695,179 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CCAATAACTGAGGAAACCTGGG -3'
(R):5'- GGCGAATCTTGCATTCTGCTG -3'

Sequencing Primer
(F):5'- CTGAGGAAACCTGGGGACTAG -3'
(R):5'- AGTGCATAGGTTTTCAGTCCC -3'
Posted On 2015-09-25