Incidental Mutation 'R5759:Mmp20'
ID 462634
Institutional Source Beutler Lab
Gene Symbol Mmp20
Ensembl Gene ENSMUSG00000018620
Gene Name matrix metallopeptidase 20 (enamelysin)
Synonyms
MMRRC Submission 043361-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5759 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 7628232-7674969 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 7628378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034487]
AlphaFold P57748
Predicted Effect probably null
Transcript: ENSMUST00000034487
SMART Domains Protein: ENSMUSP00000034487
Gene: ENSMUSG00000018620

DomainStartEndE-ValueType
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
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 95.1%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,419 (GRCm39) S1203P probably benign Het
Adamts1 A G 16: 85,594,936 (GRCm39) V341A possibly damaging Het
Arf2 G A 11: 103,874,459 (GRCm39) G144S probably benign Het
Atr A G 9: 95,756,455 (GRCm39) N862D probably benign Het
Cep295nl T C 11: 118,224,472 (GRCm39) H124R possibly damaging Het
Chd6 C T 2: 160,825,682 (GRCm39) V1141I possibly damaging Het
Chst5 C A 8: 112,616,842 (GRCm39) K259N probably benign Het
Dchs1 T A 7: 105,413,383 (GRCm39) D1144V probably damaging Het
Dmxl2 T C 9: 54,282,792 (GRCm39) Y2795C probably damaging Het
Dnah7b A G 1: 46,316,280 (GRCm39) N3131S probably damaging Het
Dnah7c G A 1: 46,654,527 (GRCm39) G1436R probably damaging Het
Emp2 T A 16: 10,102,374 (GRCm39) Y146F probably damaging Het
Exoc6 C T 19: 37,562,189 (GRCm39) Q148* probably null Het
Fam13b T C 18: 34,630,488 (GRCm39) D90G probably damaging Het
Fam186b T G 15: 99,177,598 (GRCm39) Y576S probably benign Het
Fras1 T C 5: 96,857,775 (GRCm39) V2023A probably benign Het
Grm5 A C 7: 87,675,808 (GRCm39) M441L probably damaging Het
Hhatl A G 9: 121,617,343 (GRCm39) Y297H probably damaging Het
Ifi30 A G 8: 71,219,188 (GRCm39) probably benign Het
Ing2 G T 8: 48,122,040 (GRCm39) N169K possibly damaging Het
Kat6a T G 8: 23,428,028 (GRCm39) S1128A probably benign Het
Madd T C 2: 90,992,420 (GRCm39) E1041G possibly damaging Het
Mcm3 CT CTT 1: 20,878,972 (GRCm39) probably null Het
Mfsd5 G A 15: 102,189,513 (GRCm39) G295D possibly damaging Het
Minar1 A T 9: 89,483,125 (GRCm39) N757K probably benign Het
Mybphl T C 3: 108,282,070 (GRCm39) V100A probably benign Het
Ndfip2 T A 14: 105,539,750 (GRCm39) probably null Het
Or7e170 A G 9: 19,795,484 (GRCm39) V39A probably benign Het
Or7e175 T A 9: 20,049,228 (GRCm39) V272E probably benign Het
Or8b1c T A 9: 38,384,831 (GRCm39) S263T possibly damaging Het
Phf19 T G 2: 34,787,135 (GRCm39) D443A probably damaging Het
Piezo1 A G 8: 123,234,394 (GRCm39) V84A probably damaging Het
Septin9 A G 11: 117,243,094 (GRCm39) I94V probably benign Het
Slc35a1 C A 4: 34,675,032 (GRCm39) V132L probably benign Het
Sntg1 G A 1: 8,484,494 (GRCm39) S442L probably benign Het
Tcf25 A G 8: 124,108,196 (GRCm39) T84A probably benign Het
Tchhl1 C G 3: 93,378,863 (GRCm39) S522R probably damaging Het
Tmem106b A G 6: 13,075,041 (GRCm39) E76G probably damaging Het
Tnk2 C T 16: 32,499,482 (GRCm39) P932S probably benign Het
Trib1 G A 15: 59,526,350 (GRCm39) V307I probably benign Het
Trib3 A T 2: 152,185,215 (GRCm39) D11E probably benign Het
Trim34b T C 7: 103,980,640 (GRCm39) S243P possibly damaging Het
Vmn2r50 A G 7: 9,781,905 (GRCm39) I280T probably damaging Het
Zfp1010 A T 2: 176,956,765 (GRCm39) C244* probably null Het
Zfp445 G T 9: 122,682,211 (GRCm39) Q577K probably benign Het
Zfp599 T C 9: 22,160,957 (GRCm39) K403E probably 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
IGL02496:Mmp20 APN 9 7,654,042 (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
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
Predicted Primers PCR Primer
(F):5'- TATAAAAGGAGCTTGGTCCAGGTG -3'
(R):5'- TGTTAGCTCAGCCGTGTAAC -3'

Sequencing Primer
(F):5'- AGCTTGGTCCAGGTGCAAATG -3'
(R):5'- AGCTCAGCCGTGTAACTCATG -3'
Posted On 2017-03-01