Incidental Mutation 'IGL02478:Mmp2'
ID295047
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp2
Ensembl Gene ENSMUSG00000031740
Gene Namematrix metallopeptidase 2
Synonymsgelatinase A, 72kDa gelatinase, Clg4a, GelA, MMP-2, 72kDa type IV collagenase
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.312) question?
Stock #IGL02478
Quality Score
Status
Chromosome8
Chromosomal Location92827291-92853420 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92852607 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 108 (N108S)
Ref Sequence ENSEMBL: ENSMUSP00000147838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034187] [ENSMUST00000046290] [ENSMUST00000209265] [ENSMUST00000210099] [ENSMUST00000211567]
Predicted Effect probably benign
Transcript: ENSMUST00000034187
AA Change: N644S

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034187
Gene: ENSMUSG00000031740
AA Change: N644S

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:PG_binding_1 43 97 2.4e-9 PFAM
ZnMc 115 447 1.06e-49 SMART
FN2 226 274 2.88e-25 SMART
FN2 284 332 5.17e-27 SMART
FN2 342 390 3.33e-30 SMART
HX 477 520 1.13e-4 SMART
HX 522 565 1.33e-10 SMART
HX 570 617 2.21e-16 SMART
HX 619 662 4.29e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000046290
SMART Domains Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
low complexity region 35 45 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
PlsC 140 251 2.78e-22 SMART
Blast:PlsC 284 326 3e-19 BLAST
EFh 395 423 4.49e-4 SMART
EFh 432 460 6.11e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130471
Predicted Effect probably benign
Transcript: ENSMUST00000209265
Predicted Effect probably benign
Transcript: ENSMUST00000210099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211308
Predicted Effect possibly damaging
Transcript: ENSMUST00000211567
AA Change: N108S

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211691
Coding Region Coverage
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 hydrolyzes collagens, gelatins, laminin, fibronectin and elastin. Mice lacking the encoded protein exhibit suppressed angiogenesis and attenuated features of human multicentric osteolysis with arthritis including abnormal skeletal and craniofacial development. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit slightly delayed growth, reduced neovascularization, retarded tumor progression, an exaggerated asthma response to allergens, and impaired branching morphogenesis of the mammary gland. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,806,018 A42E probably damaging Het
Agmo T A 12: 37,401,986 F247L probably damaging Het
Arap1 C A 7: 101,400,125 probably null Het
Arid1a T C 4: 133,681,274 D1974G unknown Het
Asxl3 C T 18: 22,523,013 A1360V possibly damaging Het
Celsr1 T A 15: 85,941,136 T1599S possibly damaging Het
Chrdl2 T C 7: 100,020,983 probably null Het
Csmd3 T C 15: 47,838,398 probably benign Het
Dis3l C T 9: 64,314,773 E452K probably benign Het
Dnajc2 A T 5: 21,776,790 H45Q probably damaging Het
Eps8 G A 6: 137,522,842 P213L probably benign Het
Erbb3 T A 10: 128,571,358 R978* probably null Het
Exoc2 A T 13: 30,927,420 C142S probably benign Het
Fam184b T C 5: 45,537,697 E735G probably damaging Het
Fam208b T C 13: 3,574,661 E1763G probably benign Het
Fancm T C 12: 65,077,090 V174A probably damaging Het
Fat4 T C 3: 38,888,215 L419P probably damaging Het
Fsip2 G T 2: 82,984,392 V3490L probably benign Het
Ftcd A T 10: 76,581,421 R255* probably null Het
Galc T C 12: 98,213,132 N506S possibly damaging Het
Gm20441 G T 10: 75,772,810 A26E probably damaging Het
Gm21969 T G 4: 139,640,688 probably null Het
Hspb11 T A 4: 107,275,252 S79T probably benign Het
Ifitm3 T A 7: 141,009,874 M89L possibly damaging Het
Inmt T C 6: 55,173,370 E94G probably damaging Het
Insrr G A 3: 87,809,412 G649D probably benign Het
Ivd T C 2: 118,862,091 L24P probably benign Het
Kcnc1 A G 7: 46,435,169 N506D probably benign Het
Krt39 T A 11: 99,520,897 D121V probably benign Het
Lcp1 A G 14: 75,224,096 I510V probably benign Het
Mkx C T 18: 7,002,418 V43M probably damaging Het
Mob1b T C 5: 88,756,088 probably benign Het
Morc3 A G 16: 93,864,956 probably benign Het
Myh13 T G 11: 67,369,378 S1881A probably benign Het
Nalcn T C 14: 123,321,305 E843G probably benign Het
Ngef A G 1: 87,480,579 probably benign Het
Olfr293 T A 7: 86,664,136 I158N probably damaging Het
Osm A G 11: 4,239,507 Y97C probably damaging Het
Pclo T A 5: 14,766,778 L4556Q unknown Het
Pcyox1l T C 18: 61,697,709 D364G probably benign Het
Plekha6 T A 1: 133,283,293 V467E probably benign Het
Qrsl1 A T 10: 43,882,162 S312T probably damaging Het
Ripk1 T A 13: 34,010,589 L70Q probably damaging Het
Rnaseh1 A T 12: 28,655,663 Y162F probably damaging Het
Ror2 T A 13: 53,121,667 T195S probably damaging Het
Sh3bp2 T C 5: 34,551,662 L33P probably damaging Het
Skil T A 3: 31,097,819 C163* probably null Het
Slc25a37 A T 14: 69,249,434 N133K probably benign Het
Slitrk3 A C 3: 73,050,713 V242G probably damaging Het
Sra1 A G 18: 36,668,792 S82P probably benign Het
Synj2 A G 17: 6,037,924 N1417D probably benign Het
Tas2r122 A G 6: 132,711,615 V105A possibly damaging Het
Ttc21b T C 2: 66,188,280 N1261S probably benign Het
Vmn2r69 A G 7: 85,406,681 S750P probably damaging Het
Wdr95 A G 5: 149,596,321 T568A probably benign Het
Zfp319 T A 8: 95,329,093 I161F possibly damaging Het
Other mutations in Mmp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Mmp2 APN 8 92830684 missense probably benign
IGL02165:Mmp2 APN 8 92833219 missense probably null 1.00
IGL02424:Mmp2 APN 8 92836007 missense probably damaging 1.00
IGL03351:Mmp2 APN 8 92839342 missense probably benign 0.00
R2012:Mmp2 UTSW 8 92850203 missense probably benign 0.00
R2034:Mmp2 UTSW 8 92836912 missense probably damaging 1.00
R2079:Mmp2 UTSW 8 92850189 missense probably damaging 1.00
R5090:Mmp2 UTSW 8 92852574 missense probably damaging 1.00
R5103:Mmp2 UTSW 8 92831785 nonsense probably null
R5357:Mmp2 UTSW 8 92833152 missense possibly damaging 0.73
R6902:Mmp2 UTSW 8 92836917 missense probably damaging 0.97
R6925:Mmp2 UTSW 8 92839382 missense probably damaging 1.00
X0065:Mmp2 UTSW 8 92827739 missense probably damaging 1.00
Posted On2015-04-16