Incidental Mutation 'PIT4519001:Mmp20'
ID 555119
Institutional Source Beutler Lab
Gene Symbol Mmp20
Ensembl Gene ENSMUSG00000018620
Gene Name matrix metallopeptidase 20 (enamelysin)
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # PIT4519001 (G1)
Quality Score 149.008
Status Not validated
Chromosome 9
Chromosomal Location 7628232-7674969 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7628302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 17 (K17E)
Ref Sequence ENSEMBL: ENSMUSP00000034487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034487]
AlphaFold P57748
Predicted Effect probably benign
Transcript: ENSMUST00000034487
AA Change: K17E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034487
Gene: ENSMUSG00000018620
AA Change: K17E

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: 93.5%
  • 3x: 90.9%
  • 10x: 84.7%
  • 20x: 70.8%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,217,440 (GRCm39) M803K probably benign Het
4930590J08Rik C A 6: 91,894,038 (GRCm39) N218K probably damaging Het
Abcc2 G A 19: 43,807,836 (GRCm39) V826M possibly damaging Het
Abcg2 T C 6: 58,651,792 (GRCm39) S395P probably damaging Het
Adam1b C T 5: 121,640,010 (GRCm39) G345D probably damaging Het
Alx4 T A 2: 93,505,773 (GRCm39) C292S probably benign Het
Amd2 C A 10: 35,586,627 (GRCm39) C310F possibly damaging Het
BC051665 A T 13: 60,931,989 (GRCm39) S137T possibly damaging Het
Bmp1 A G 14: 70,727,469 (GRCm39) F705L possibly damaging Het
Coil C T 11: 88,863,552 (GRCm39) probably benign Het
Col6a6 G A 9: 105,609,462 (GRCm39) P1609S probably benign Het
Cpt1b A T 15: 89,303,066 (GRCm39) F633I probably damaging Het
Dcun1d2 A T 8: 13,311,406 (GRCm39) D194E probably benign Het
Defb4 A G 8: 19,248,752 (GRCm39) R2G possibly damaging Het
Dll4 T C 2: 119,162,897 (GRCm39) V506A probably benign Het
Dop1b A G 16: 93,558,942 (GRCm39) S563G probably benign Het
Dpp7 C A 2: 25,242,460 (GRCm39) G498W probably damaging Het
Fam210a A T 18: 68,409,020 (GRCm39) S97T possibly damaging Het
Fastkd1 T A 2: 69,520,501 (GRCm39) D767V probably damaging Het
Fgg A T 3: 82,920,246 (GRCm39) N342Y probably damaging Het
Gimap6 T G 6: 48,684,995 (GRCm39) R30S probably benign Het
Gm10840 T C 11: 106,051,959 (GRCm39) V95A unknown Het
Herc3 T A 6: 58,853,796 (GRCm39) I614N probably damaging Het
Kdr A T 5: 76,097,556 (GRCm39) S1233R possibly damaging Het
Lrp1 C G 10: 127,443,843 (GRCm39) Q141H possibly damaging Het
Magi2 A T 5: 20,866,344 (GRCm39) K1078N probably damaging Het
Meioc A T 11: 102,570,783 (GRCm39) E838V probably damaging Het
Mtor C T 4: 148,608,957 (GRCm39) R1538W probably damaging Het
Notch2 C T 3: 98,005,424 (GRCm39) T296I probably damaging Het
Nup98 T C 7: 101,784,171 (GRCm39) S1054G probably benign Het
Or10ac1 T C 6: 42,515,534 (GRCm39) T141A probably damaging Het
Or2a12 T C 6: 42,904,578 (GRCm39) C138R probably damaging Het
Or5b109 A C 19: 13,212,216 (GRCm39) I201L probably benign Het
Or6f1 T C 7: 85,970,941 (GRCm39) Y73C probably damaging Het
Pipox C A 11: 77,774,001 (GRCm39) W205L probably damaging Het
Plin4 T G 17: 56,410,828 (GRCm39) T1068P probably benign Het
Pou6f2 A G 13: 18,414,149 (GRCm39) S209P unknown Het
Ptpdc1 T C 13: 48,736,632 (GRCm39) T713A probably benign Het
Rgsl1 T C 1: 153,701,716 (GRCm39) Y246C possibly damaging Het
Rnf19b C T 4: 128,969,446 (GRCm39) A354V probably damaging Het
Rsph4a A G 10: 33,785,126 (GRCm39) T346A probably benign Het
Rsrc2 T C 5: 123,883,135 (GRCm39) T16A unknown Het
Scrn3 T C 2: 73,148,768 (GRCm39) V113A possibly damaging Het
Scrn3 T A 2: 73,161,347 (GRCm39) I311K possibly damaging Het
Sfmbt1 T C 14: 30,506,148 (GRCm39) probably null Het
Sin3a A G 9: 57,002,740 (GRCm39) I211V possibly damaging Het
Strn3 T C 12: 51,680,491 (GRCm39) T370A probably benign Het
Sulf1 T G 1: 12,918,395 (GRCm39) N786K probably damaging Het
Taf1b T A 12: 24,597,118 (GRCm39) Y352* probably null Het
Tas2r120 T A 6: 132,634,297 (GRCm39) N126K probably benign Het
Tjap1 C A 17: 46,572,432 (GRCm39) R68L probably benign Het
Tnfsf12 C T 11: 69,586,230 (GRCm39) R66Q probably benign Het
Traj45 A G 14: 54,410,303 (GRCm39) D6G Het
Trappc9 T C 15: 72,824,943 (GRCm39) T541A probably benign Het
Ttc29 A C 8: 79,052,106 (GRCm39) E329A probably benign Het
Vmn1r117 T G 7: 20,617,160 (GRCm39) D296A possibly damaging Het
Vmn1r203 A G 13: 22,708,765 (GRCm39) N182S probably benign Het
Vps53 C A 11: 76,007,999 (GRCm39) R287L probably damaging Het
Vwce G A 19: 10,641,946 (GRCm39) E891K possibly damaging Het
Zfp608 T C 18: 55,079,783 (GRCm39) N334S possibly damaging Het
Zfp648 A G 1: 154,080,687 (GRCm39) H282R 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
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
Predicted Primers PCR Primer
(F):5'- GGAGAAACAAGCTGTGTAATTACC -3'
(R):5'- AACCTTAGCTAGCATGGCCC -3'

Sequencing Primer
(F):5'- GCTGTGTAATTACCATTTGAGACATG -3'
(R):5'- TAGCTAGCATGGCCCGTTGG -3'
Posted On 2019-06-07