Incidental Mutation 'R5505:Mmp9'
ID 430868
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 043066-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5505 (G1)
Quality Score 215
Status Validated
Chromosome 2
Chromosomal Location 164782700-164797770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164795528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 682 (I682T)
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: I682T

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000017881
Gene: ENSMUSG00000017737
AA Change: I682T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144917
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.9%
Validation Efficiency 98% (47/48)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T A 5: 24,606,036 (GRCm39) D240E probably damaging Het
Alpk3 G A 7: 80,728,309 (GRCm39) E480K possibly damaging Het
Arhgap20 A G 9: 51,750,248 (GRCm39) E372G probably damaging Het
Atp23 G T 10: 126,723,499 (GRCm39) A201D probably damaging Het
Bpifb1 A G 2: 154,046,699 (GRCm39) D73G probably benign Het
Ccdc7a A G 8: 129,706,655 (GRCm39) S325P possibly damaging Het
Cckar A G 5: 53,860,410 (GRCm39) Y140H probably damaging Het
Cd46 A T 1: 194,767,688 (GRCm39) D124E possibly damaging Het
Cep290 T C 10: 100,335,048 (GRCm39) probably null Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Eif2ak1 T C 5: 143,803,745 (GRCm39) S34P probably benign Het
Enah T A 1: 181,734,018 (GRCm39) probably benign Het
Gad2 C G 2: 22,514,845 (GRCm39) L108V probably benign Het
Gpr22 T C 12: 31,759,724 (GRCm39) I133V probably damaging Het
Hdac4 T C 1: 91,903,187 (GRCm39) T13A probably benign Het
Ighv1-4 A G 12: 114,451,057 (GRCm39) V17A possibly damaging Het
Ints8 T A 4: 11,221,143 (GRCm39) Q744L probably benign Het
Lrit3 C T 3: 129,585,087 (GRCm39) V224I possibly damaging Het
Mgat4a T C 1: 37,535,035 (GRCm39) I108V probably benign Het
Myh7b G A 2: 155,474,592 (GRCm39) A1742T probably benign Het
Nlrp12 C T 7: 3,298,015 (GRCm39) G52D probably damaging Het
Or5t9 T C 2: 86,659,845 (GRCm39) F250L possibly damaging Het
Pcnx1 T C 12: 81,996,927 (GRCm39) L941P probably damaging Het
Pla2g4e T C 2: 120,075,256 (GRCm39) R45G probably benign Het
Plcz1 C G 6: 139,961,942 (GRCm39) G203A probably damaging Het
Poldip2 A G 11: 78,406,001 (GRCm39) T76A probably benign Het
Prdm15 T A 16: 97,618,183 (GRCm39) H325L possibly damaging Het
Ralyl A T 3: 13,841,980 (GRCm39) I39F probably damaging Het
Rnf220 A C 4: 117,153,288 (GRCm39) probably benign Het
Rnpc3 T C 3: 113,409,102 (GRCm39) K318E probably damaging Het
Rsbn1 T A 3: 103,836,259 (GRCm39) N432K probably damaging Het
Sh3yl1 T A 12: 30,992,072 (GRCm39) Y176N probably damaging Het
Slc25a30 G A 14: 76,000,789 (GRCm39) L272F probably damaging Het
Spag1 T C 15: 36,234,772 (GRCm39) V844A probably damaging Het
Srsf5 T C 12: 80,995,857 (GRCm39) probably benign Het
Tle2 T A 10: 81,417,574 (GRCm39) D223E probably benign Het
Tmem192 A G 8: 65,416,898 (GRCm39) E39G possibly damaging Het
Trpc6 T A 9: 8,626,736 (GRCm39) L362H probably damaging Het
Tuba4a A G 1: 75,193,060 (GRCm39) Y185H probably damaging Het
Uba6 A G 5: 86,268,405 (GRCm39) V941A probably benign Het
Vmn2r35 A T 7: 7,789,479 (GRCm39) Y753N probably damaging Het
Zfp941 C T 7: 140,391,830 (GRCm39) V510I probably benign 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
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'- AAGGCTCTGCTGTTCAGCAAG -3'
(R):5'- GGGTGCTCTCTATATGGCTCTTATC -3'

Sequencing Primer
(F):5'- TGTCTGGAGGTAAGAGCGACC -3'
(R):5'- ATATGGCTCTTATCTAGAACATTCCC -3'
Posted On 2016-10-05