Incidental Mutation 'R5646:Mmp9'
ID 441122
Institutional Source Beutler Lab
Gene Symbol Mmp9
Ensembl Gene ENSMUSG00000017737
Gene Name matrix metallopeptidase 9
Synonyms MMP-9, Clg4b, Gel B, Gelatinase B, gelatinase B, B/MMP9
MMRRC Submission 043294-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5646 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 164782700-164797770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 164790970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 119 (H119Q)
Ref Sequence ENSEMBL: ENSMUSP00000017881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017881] [ENSMUST00000137626]
AlphaFold P41245
Predicted Effect probably benign
Transcript: ENSMUST00000017881
AA Change: H119Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000017881
Gene: ENSMUSG00000017737
AA Change: H119Q

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:PG_binding_1 39 95 2.9e-8 PFAM
ZnMc 112 445 3.92e-39 SMART
FN2 223 271 8.08e-29 SMART
FN2 281 329 6.93e-28 SMART
FN2 340 388 9.28e-29 SMART
low complexity region 449 468 N/A INTRINSIC
Pfam:PT 474 508 1.1e-11 PFAM
HX 539 583 2.4e-8 SMART
HX 585 626 9.33e-6 SMART
HX 631 677 2.74e-3 SMART
HX 679 721 1.74e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134382
Predicted Effect probably benign
Transcript: ENSMUST00000137626
SMART Domains Protein: ENSMUSP00000120628
Gene: ENSMUSG00000017737

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PDB:1L6J|A 20 67 5e-15 PDB
SCOP:d1l6ja1 29 67 2e-7 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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 that degrades collagens of type IV, V and XI, and elastin. Mice lacking the encoded protein exhibit an abnormal pattern of skeletal growth plate vascularization and ossification, reduced keratinocyte hyperproliferation at all neoplastic stages, a decreased incidence of invasive tumors, and resistance to experimental autoimmune encephalomyelitis. [provided by RefSeq, Feb 2016]
PHENOTYPE: Null mutants have short long bones with compensatory growth via delayed ossification and apoptosis of hypertrophic chondroctyes. Mutants are protected against ischemic brain injury, damage caused by myocardial infarction, and allergic airway inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 C A 5: 34,788,024 (GRCm39) A691D probably benign Het
Agap3 C A 5: 24,688,395 (GRCm39) D394E probably benign Het
Arhgef11 T C 3: 87,591,793 (GRCm39) V59A possibly damaging Het
Atp2a1 A G 7: 126,052,277 (GRCm39) V402A probably benign Het
Bbs9 T C 9: 22,490,011 (GRCm39) F261L probably benign Het
Bsn A T 9: 107,987,631 (GRCm39) probably benign Het
Camk1 A G 6: 113,316,301 (GRCm39) V81A probably damaging Het
Cass4 T G 2: 172,258,165 (GRCm39) C54W probably damaging Het
Ccdc39 A T 3: 33,879,699 (GRCm39) F456L probably damaging Het
Cdc42bpa A G 1: 179,933,659 (GRCm39) E766G probably damaging Het
Cdcp2 T C 4: 106,962,339 (GRCm39) C171R probably damaging Het
Cdh9 G A 15: 16,823,371 (GRCm39) E118K probably damaging Het
Col4a2 G A 8: 11,491,281 (GRCm39) G1227R probably damaging Het
Cyp2d9 A G 15: 82,336,665 (GRCm39) T5A probably benign Het
Dlg5 T A 14: 24,208,767 (GRCm39) D813V probably damaging Het
Dmtf1 G A 5: 9,174,515 (GRCm39) S405F possibly damaging Het
Drd2 A G 9: 49,316,212 (GRCm39) K324R probably benign Het
Ergic1 T C 17: 26,833,332 (GRCm39) S29P probably damaging Het
Fmnl1 A G 11: 103,087,338 (GRCm39) probably benign Het
Foxd2 C T 4: 114,765,832 (GRCm39) A63T unknown Het
Gfap T C 11: 102,782,282 (GRCm39) I409M probably benign Het
Gfpt1 A G 6: 87,019,981 (GRCm39) M1V probably null Het
H2-T23 C G 17: 36,342,695 (GRCm39) E148Q possibly damaging Het
Hip1 G A 5: 135,457,595 (GRCm39) R704W probably damaging Het
Kif19a A C 11: 114,670,480 (GRCm39) D130A probably damaging Het
Lin7b T C 7: 45,018,617 (GRCm39) D14G probably damaging Het
Meioc T A 11: 102,566,083 (GRCm39) N510K possibly damaging Het
Mettl5 C A 2: 69,711,663 (GRCm39) G68* probably null Het
Mitf A T 6: 97,990,655 (GRCm39) I184F probably damaging Het
Mycbp2 T A 14: 103,407,346 (GRCm39) H2768L probably benign Het
Myh2 A T 11: 67,079,638 (GRCm39) I1032F probably benign Het
Myo3b T C 2: 70,144,774 (GRCm39) I1110T probably damaging Het
Nde1 T C 16: 13,987,378 (GRCm39) F8L probably damaging Het
Or10aa3 C T 1: 173,878,853 (GRCm39) Q305* probably null Het
Or2a25 A G 6: 42,888,457 (GRCm39) probably null Het
Or2h2b-ps1 T C 17: 37,480,808 (GRCm39) I244V probably benign Het
Or4f47 T C 2: 111,973,028 (GRCm39) V246A possibly damaging Het
Or51r1 A C 7: 102,228,512 (GRCm39) Y270S possibly damaging Het
Or5ac20 C T 16: 59,104,342 (GRCm39) V173I probably benign Het
Or6c202 T C 10: 128,996,706 (GRCm39) D49G possibly damaging Het
Pcdhga8 A G 18: 37,859,823 (GRCm39) H293R probably benign Het
Pde7a A T 3: 19,287,937 (GRCm39) L244Q probably damaging Het
Pex14 T C 4: 149,045,910 (GRCm39) D340G probably benign Het
Pfkfb4 A T 9: 108,837,489 (GRCm39) I195F probably damaging Het
Pik3c2a C A 7: 116,005,186 (GRCm39) G361W probably damaging Het
Prkcg T A 7: 3,377,597 (GRCm39) M517K probably damaging Het
Prob1 A T 18: 35,787,167 (GRCm39) F362L probably benign Het
Rims4 C T 2: 163,705,937 (GRCm39) W232* probably null Het
Robo2 T C 16: 73,758,707 (GRCm39) D688G probably damaging Het
Sec24c C A 14: 20,729,641 (GRCm39) A73E probably benign Het
Slc15a3 A G 19: 10,820,574 (GRCm39) N64D probably benign Het
Smg1 A T 7: 117,811,782 (GRCm39) N65K probably benign Het
Spata31h1 A G 10: 82,119,610 (GRCm39) S4467P probably damaging Het
Sptb G T 12: 76,634,215 (GRCm39) D2165E probably benign Het
Sptbn5 A T 2: 119,879,292 (GRCm39) noncoding transcript Het
Syt12 A T 19: 4,506,569 (GRCm39) M192K possibly damaging Het
Tas2r107 A G 6: 131,636,671 (GRCm39) V126A probably benign Het
Thbs3 T C 3: 89,126,405 (GRCm39) L242P probably damaging Het
Timp2 A T 11: 118,208,358 (GRCm39) probably null Het
Tmtc1 G A 6: 148,148,329 (GRCm39) A751V probably damaging Het
Tnni2 A T 7: 141,997,650 (GRCm39) D85V probably damaging Het
Ttc39b G A 4: 83,162,307 (GRCm39) P319L probably damaging Het
Ttc6 A T 12: 57,622,805 (GRCm39) K68M probably damaging Het
Usp25 G A 16: 76,847,360 (GRCm39) R156Q probably benign Het
Vill A T 9: 118,900,230 (GRCm39) D365V probably damaging Het
Vmn1r65 T A 7: 6,012,223 (GRCm39) T4S probably benign Het
Vmn2r76 C A 7: 85,875,261 (GRCm39) C572F probably damaging Het
Vps26a A C 10: 62,304,077 (GRCm39) N181K probably damaging Het
Xirp2 T C 2: 67,341,134 (GRCm39) L1125P probably damaging Het
Zbtb41 T G 1: 139,351,501 (GRCm39) S205A probably benign Het
Zfp438 T C 18: 5,214,526 (GRCm39) D144G probably benign Het
Zfp600 T C 4: 146,131,670 (GRCm39) S113P probably damaging Het
Zfp84 C T 7: 29,475,818 (GRCm39) T170M probably benign Het
Zmiz2 T A 11: 6,352,837 (GRCm39) D654E probably damaging Het
Zswim4 A T 8: 84,957,739 (GRCm39) probably null Het
Other mutations in Mmp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01707:Mmp9 APN 2 164,791,909 (GRCm39) missense probably benign 0.13
IGL01980:Mmp9 APN 2 164,792,836 (GRCm39) missense probably benign 0.01
IGL02117:Mmp9 APN 2 164,791,644 (GRCm39) missense probably damaging 1.00
IGL02515:Mmp9 APN 2 164,790,876 (GRCm39) missense probably damaging 1.00
IGL02756:Mmp9 APN 2 164,791,235 (GRCm39) missense probably benign 0.27
IGL02833:Mmp9 APN 2 164,791,723 (GRCm39) missense probably damaging 1.00
IGL02893:Mmp9 APN 2 164,790,988 (GRCm39) splice site probably null
IGL02949:Mmp9 APN 2 164,793,039 (GRCm39) missense probably damaging 1.00
IGL03097:Mmp9 UTSW 2 164,792,726 (GRCm39) splice site probably null
R0001:Mmp9 UTSW 2 164,790,303 (GRCm39) missense probably benign 0.02
R0125:Mmp9 UTSW 2 164,793,177 (GRCm39) missense probably damaging 1.00
R0532:Mmp9 UTSW 2 164,791,740 (GRCm39) nonsense probably null
R1300:Mmp9 UTSW 2 164,790,876 (GRCm39) missense probably damaging 1.00
R1341:Mmp9 UTSW 2 164,791,247 (GRCm39) missense probably damaging 1.00
R1366:Mmp9 UTSW 2 164,795,262 (GRCm39) missense probably damaging 1.00
R1711:Mmp9 UTSW 2 164,791,342 (GRCm39) missense probably damaging 1.00
R2138:Mmp9 UTSW 2 164,794,387 (GRCm39) nonsense probably null
R3405:Mmp9 UTSW 2 164,791,310 (GRCm39) missense probably damaging 0.99
R3406:Mmp9 UTSW 2 164,791,310 (GRCm39) missense probably damaging 0.99
R4460:Mmp9 UTSW 2 164,790,958 (GRCm39) missense probably damaging 0.99
R4655:Mmp9 UTSW 2 164,793,122 (GRCm39) missense probably benign 0.29
R5155:Mmp9 UTSW 2 164,790,986 (GRCm39) critical splice donor site probably null
R5309:Mmp9 UTSW 2 164,792,715 (GRCm39) unclassified probably benign
R5355:Mmp9 UTSW 2 164,792,912 (GRCm39) missense possibly damaging 0.76
R5476:Mmp9 UTSW 2 164,794,414 (GRCm39) missense probably benign
R5505:Mmp9 UTSW 2 164,795,528 (GRCm39) missense probably benign 0.34
R5725:Mmp9 UTSW 2 164,791,256 (GRCm39) missense possibly damaging 0.93
R6968:Mmp9 UTSW 2 164,794,860 (GRCm39) missense probably benign
R7082:Mmp9 UTSW 2 164,790,812 (GRCm39) missense probably benign 0.25
R7822:Mmp9 UTSW 2 164,790,956 (GRCm39) nonsense probably null
R8181:Mmp9 UTSW 2 164,792,365 (GRCm39) missense probably damaging 1.00
R8298:Mmp9 UTSW 2 164,792,279 (GRCm39) missense probably null 1.00
R8500:Mmp9 UTSW 2 164,795,486 (GRCm39) missense possibly damaging 0.54
R8911:Mmp9 UTSW 2 164,794,568 (GRCm39) missense possibly damaging 0.75
R9111:Mmp9 UTSW 2 164,792,726 (GRCm39) splice site probably null
R9289:Mmp9 UTSW 2 164,796,800 (GRCm39) missense probably benign 0.37
R9489:Mmp9 UTSW 2 164,793,146 (GRCm39) missense probably benign 0.09
R9582:Mmp9 UTSW 2 164,791,235 (GRCm39) missense probably benign 0.00
R9590:Mmp9 UTSW 2 164,790,834 (GRCm39) missense probably benign 0.00
R9707:Mmp9 UTSW 2 164,794,605 (GRCm39) missense possibly damaging 0.49
X0020:Mmp9 UTSW 2 164,792,293 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCATACTTGTACCGCTATGG -3'
(R):5'- TGCACGGATTACAAATGGGG -3'

Sequencing Primer
(F):5'- TATGGTTACACCCGGGCC -3'
(R):5'- TTACAAATGGGGGTGGGC -3'
Posted On 2016-11-08