Incidental Mutation 'R4460:Mmp9'
ID 330090
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 041719-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4460 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 164782700-164797770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 164790958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 115 (K115N)
Ref Sequence ENSEMBL: ENSMUSP00000017881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017881] [ENSMUST00000137626]
AlphaFold P41245
Predicted Effect probably damaging
Transcript: ENSMUST00000017881
AA Change: K115N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000017881
Gene: ENSMUSG00000017737
AA Change: K115N

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btbd8 A G 5: 107,651,631 (GRCm39) T687A possibly damaging Het
C030048H21Rik A G 2: 26,145,875 (GRCm39) probably null Het
Cav1 A G 6: 17,306,471 (GRCm39) D8G probably damaging Het
Celf6 G A 9: 59,510,327 (GRCm39) R103H probably damaging Het
Ctr9 A G 7: 110,646,101 (GRCm39) I698V probably benign Het
Cts6 G C 13: 61,343,272 (GRCm39) I316M probably benign Het
Dnajc13 C A 9: 104,058,262 (GRCm39) R1496L probably damaging Het
Dscam A G 16: 96,411,519 (GRCm39) Y1786H probably damaging Het
Fcgbpl1 C T 7: 27,852,281 (GRCm39) T1268I probably benign Het
Itga2 C G 13: 114,980,019 (GRCm39) D1061H probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl26 T C 8: 70,904,194 (GRCm39) Y538C probably damaging Het
Ltk A G 2: 119,586,094 (GRCm39) probably null Het
Med20 T C 17: 47,929,842 (GRCm39) V93A probably benign Het
Mroh5 A T 15: 73,663,645 (GRCm39) D339E probably damaging Het
Muc1 A T 3: 89,138,870 (GRCm39) D493V probably damaging Het
Mx1 G T 16: 97,255,281 (GRCm39) S113R probably damaging Het
Nlrp9c T A 7: 26,077,523 (GRCm39) H698L probably damaging Het
Nol9 T G 4: 152,142,293 (GRCm39) L641R probably damaging Het
Pla2g4e T G 2: 120,016,863 (GRCm39) H226P possibly damaging Het
Pou2f1 A G 1: 165,722,575 (GRCm39) F337L probably damaging Het
Prkn A T 17: 12,280,533 (GRCm39) D463V probably damaging Het
Ptcd1 G T 5: 145,096,316 (GRCm39) A259E probably benign Het
Ptov1 T C 7: 44,515,000 (GRCm39) M204V probably benign Het
Rasal2 A G 1: 157,003,402 (GRCm39) F419S possibly damaging Het
Rbbp8nl A G 2: 179,922,764 (GRCm39) S210P probably benign Het
Rgmb C A 17: 16,027,888 (GRCm39) R277L probably benign Het
Snx2 A G 18: 53,309,516 (GRCm39) E22G probably benign Het
Snx30 A T 4: 59,885,022 (GRCm39) R221* probably null Het
Tmem143 C T 7: 45,556,376 (GRCm39) T97I probably damaging Het
Ttn A C 2: 76,644,991 (GRCm39) F12955V probably damaging Het
Ubr2 C T 17: 47,255,971 (GRCm39) probably null Het
Vmn1r203 T A 13: 22,708,852 (GRCm39) M211K probably damaging Het
Vmn2r121 G A X: 123,038,281 (GRCm39) P580S probably benign Het
Zfp804b A T 5: 6,821,481 (GRCm39) D491E probably damaging 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
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
R5646:Mmp9 UTSW 2 164,790,970 (GRCm39) missense probably benign 0.00
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'- GCATGCACGGATTACAAATGGG -3'

Sequencing Primer
(F):5'- TATGGTTACACCCGGGCC -3'
(R):5'- TTACAAATGGGGGTGGGC -3'
Posted On 2015-07-21