Incidental Mutation 'IGL02496:Mmp20'
ID 295817
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp20
Ensembl Gene ENSMUSG00000018620
Gene Name matrix metallopeptidase 20 (enamelysin)
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02496
Quality Score
Chromosome 9
Chromosomal Location 7628232-7674969 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7654042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 321 (R321G)
Ref Sequence ENSEMBL: ENSMUSP00000034487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034487]
AlphaFold P57748
Predicted Effect probably damaging
Transcript: ENSMUST00000034487
AA Change: R321G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034487
Gene: ENSMUSG00000018620
AA Change: R321G

signal peptide 1 21 N/A INTRINSIC
Pfam:PG_binding_1 34 94 2.3e-9 PFAM
ZnMc 112 271 6.89e-67 SMART
HX 301 344 7.07e-6 SMART
HX 346 388 1.27e-7 SMART
HX 393 440 3.76e-10 SMART
HX 442 482 6.8e-8 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the matrix metalloproteinase family of zinc-dependent endopeptidases capable of degrading extracellular matrix proteins. This gene is expressed specifically in the ameloblasts and odontoblasts, and the encoded protein is an inactive zymogen that requires proteolytic removal of a N-terminal propeptide to become enzymatically active. Mice lacking the encoded protein display an amelogenesis imperfecta phenotype. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knockout allele exhibit a severe and profound tooth phenotype that includes altered amelogenin processing, enamel that delaminates from dentin, a hypoplastic enamel, a disorganized prism pattern, and a progressively deteriorating enamel morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,327,712 (GRCm39) H1456P possibly damaging Het
Abcg1 C A 17: 31,324,578 (GRCm39) H274Q probably damaging Het
Adamts4 G A 1: 171,078,512 (GRCm39) R44Q probably benign Het
Amigo2 A T 15: 97,143,494 (GRCm39) C309* probably null Het
Ccdc88c A C 12: 100,919,552 (GRCm39) S446A probably benign Het
Cd9 A T 6: 125,449,458 (GRCm39) V28E probably damaging Het
Cops2 A T 2: 125,678,163 (GRCm39) probably benign Het
Csn1s1 C T 5: 87,825,453 (GRCm39) probably benign Het
Cul9 G T 17: 46,851,302 (GRCm39) R373S possibly damaging Het
D630045J12Rik G T 6: 38,126,640 (GRCm39) H1457N probably damaging Het
Dennd2b C A 7: 109,155,442 (GRCm39) R436L possibly damaging Het
Dnah9 A G 11: 65,920,189 (GRCm39) S2235P probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fbxo10 A T 4: 45,043,883 (GRCm39) W647R probably damaging Het
Flnb T A 14: 7,930,919 (GRCm38) probably benign Het
Flnc G T 6: 29,440,684 (GRCm39) V301L probably damaging Het
Hfm1 T C 5: 107,049,627 (GRCm39) S445G probably benign Het
Hif3a A G 7: 16,773,603 (GRCm39) probably benign Het
Hsd17b4 T C 18: 50,288,220 (GRCm39) Y217H probably damaging Het
Iba57 T C 11: 59,049,772 (GRCm39) T192A probably benign Het
Igkv5-48 A T 6: 69,703,671 (GRCm39) I78N probably damaging Het
Inhbe A T 10: 127,186,797 (GRCm39) W128R probably damaging Het
Ism1 T C 2: 139,599,121 (GRCm39) C365R probably damaging Het
Kif19a A T 11: 114,670,470 (GRCm39) T127S probably damaging Het
Kmt2d C A 15: 98,755,439 (GRCm39) probably benign Het
Msl2 T C 9: 100,977,854 (GRCm39) M76T possibly damaging Het
Nme9 T C 9: 99,351,684 (GRCm39) C223R probably damaging Het
Nucb1 G T 7: 45,144,467 (GRCm39) probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or13a18 A C 7: 140,190,081 (GRCm39) M1L probably benign Het
Or5b98 T A 19: 12,931,556 (GRCm39) I201N possibly damaging Het
Or6b1 A C 6: 42,815,738 (GRCm39) I308L probably benign Het
P4ha1 A G 10: 59,206,824 (GRCm39) probably null Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,468,507 (GRCm39) D476G probably damaging Het
Pikfyve A G 1: 65,303,535 (GRCm39) E1685G possibly damaging Het
Plod2 T A 9: 92,489,147 (GRCm39) L714Q probably damaging Het
Plscr2 A G 9: 92,171,716 (GRCm39) I103V probably benign Het
Plscr3 C A 11: 69,738,209 (GRCm39) probably benign Het
Pmaip1 A G 18: 66,596,370 (GRCm39) R80G probably damaging Het
Ppm1d C T 11: 85,230,492 (GRCm39) P370L possibly damaging Het
Prr36 C A 8: 4,266,407 (GRCm39) E48* probably null Het
Ptgir G A 7: 16,641,409 (GRCm39) V234I possibly damaging Het
Ptk7 A T 17: 46,901,070 (GRCm39) V219E probably benign Het
Rab39b T A X: 74,618,609 (GRCm39) I74F probably damaging Het
Rasal2 A T 1: 156,977,449 (GRCm39) M1075K possibly damaging Het
Rpl37a G A 1: 72,750,885 (GRCm39) A20T probably null Het
Serpinb10 A C 1: 107,466,155 (GRCm39) probably null Het
Sipa1l1 T A 12: 82,471,868 (GRCm39) Y1283N probably damaging Het
Slc22a23 T A 13: 34,528,468 (GRCm39) I105F possibly damaging Het
Slc25a20 T A 9: 108,559,599 (GRCm39) I221N probably damaging Het
Smarcal1 A T 1: 72,659,247 (GRCm39) H691L probably damaging Het
Smo A C 6: 29,758,480 (GRCm39) T542P probably damaging Het
Spats2 T A 15: 99,071,329 (GRCm39) I51N probably damaging Het
Spon1 G T 7: 113,635,897 (GRCm39) V704L probably benign Het
Tex9 T A 9: 72,389,774 (GRCm39) Q112L probably benign Het
Tgfbr2 T C 9: 115,919,486 (GRCm39) E580G probably benign Het
Top2b T A 14: 16,387,335 (GRCm38) V141E probably benign Het
Trhde A T 10: 114,636,466 (GRCm39) L247* probably null Het
Umodl1 G T 17: 31,217,628 (GRCm39) V1145F probably damaging Het
Vasp C A 7: 18,992,748 (GRCm39) probably benign Het
Vmn1r8 G T 6: 57,013,556 (GRCm39) L202F probably damaging Het
Vmn2r111 T C 17: 22,787,837 (GRCm39) T505A probably benign Het
Wdr27 A G 17: 15,112,693 (GRCm39) probably benign Het
Wfdc1 T G 8: 120,406,909 (GRCm39) V109G probably damaging Het
Zan C A 5: 137,463,056 (GRCm39) E708* probably null Het
Zbtb1 T A 12: 76,432,169 (GRCm39) F52I possibly damaging Het
Zfp236 A G 18: 82,648,117 (GRCm39) S1015P probably damaging Het
Zfp532 T C 18: 65,757,113 (GRCm39) S349P probably damaging Het
Znfx1 A T 2: 166,889,550 (GRCm39) C731S possibly damaging Het
Other mutations in Mmp20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Mmp20 APN 9 7,628,330 (GRCm39) missense probably benign
IGL01634:Mmp20 APN 9 7,635,149 (GRCm39) nonsense probably null
IGL01682:Mmp20 APN 9 7,671,376 (GRCm39) missense probably benign 0.01
IGL01997:Mmp20 APN 9 7,639,261 (GRCm39) missense probably benign 0.03
IGL02211:Mmp20 APN 9 7,655,071 (GRCm39) missense probably damaging 1.00
IGL02902:Mmp20 APN 9 7,654,171 (GRCm39) splice site probably null
IGL03340:Mmp20 APN 9 7,643,995 (GRCm39) missense probably damaging 1.00
titanium UTSW 9 7,654,144 (GRCm39) nonsense probably null
PIT4519001:Mmp20 UTSW 9 7,628,302 (GRCm39) missense probably benign 0.00
R0082:Mmp20 UTSW 9 7,642,808 (GRCm39) missense probably benign 0.00
R0480:Mmp20 UTSW 9 7,645,374 (GRCm39) missense probably damaging 1.00
R1449:Mmp20 UTSW 9 7,642,769 (GRCm39) missense probably damaging 1.00
R1994:Mmp20 UTSW 9 7,645,293 (GRCm39) missense probably benign 0.00
R4343:Mmp20 UTSW 9 7,628,346 (GRCm39) frame shift probably null
R4825:Mmp20 UTSW 9 7,654,121 (GRCm39) missense probably damaging 1.00
R4835:Mmp20 UTSW 9 7,645,300 (GRCm39) missense probably benign 0.00
R4836:Mmp20 UTSW 9 7,644,027 (GRCm39) missense possibly damaging 0.89
R5488:Mmp20 UTSW 9 7,643,958 (GRCm39) critical splice acceptor site probably null
R5489:Mmp20 UTSW 9 7,643,958 (GRCm39) critical splice acceptor site probably null
R5759:Mmp20 UTSW 9 7,628,378 (GRCm39) critical splice donor site probably null
R5880:Mmp20 UTSW 9 7,655,002 (GRCm39) missense probably benign 0.20
R6029:Mmp20 UTSW 9 7,639,302 (GRCm39) missense probably benign
R6510:Mmp20 UTSW 9 7,643,967 (GRCm39) missense probably damaging 1.00
R7580:Mmp20 UTSW 9 7,654,144 (GRCm39) nonsense probably null
R7635:Mmp20 UTSW 9 7,639,335 (GRCm39) missense probably benign 0.00
R7904:Mmp20 UTSW 9 7,644,076 (GRCm39) missense possibly damaging 0.69
R8902:Mmp20 UTSW 9 7,639,288 (GRCm39) missense probably benign
R9214:Mmp20 UTSW 9 7,628,327 (GRCm39) missense probably benign 0.00
Z1177:Mmp20 UTSW 9 7,644,063 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16