Mutagenetix > Incidental Mutation

Incidental Mutation 'R0082:Mmp20'

19723

Institutional Source

Beutler Lab

Gene Symbol

Mmp20

Ensembl Gene

ENSMUSG00000018620

Gene Name

matrix metallopeptidase 20 (enamelysin)

Synonyms

MMRRC Submission

038369-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0082 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

7628232-7674969 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7642808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 214 (T214M)

Ref Sequence

ENSEMBL: ENSMUSP00000034487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034487]

AlphaFold

P57748

Predicted Effect

probably benign
Transcript: ENSMUST00000034487
AA Change: T214M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034487
Gene: ENSMUSG00000018620
AA Change: T214M

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0879

Coding Region Coverage

1x: 98.9%
3x: 97.3%
10x: 91.7%
20x: 73.7%

Validation Efficiency

94% (136/144)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	C	12: 21,379,049 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,099,497 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Ankrd33b	T	C	15: 31,297,935 (GRCm39)	N274S	probably benign	Het
Antkmt	T	C	17: 26,010,548 (GRCm39)	I89V	probably benign	Het
Arhgef1	C	T	7: 24,612,030 (GRCm39)	Q100*	probably null	Het
Ccdc180	A	G	4: 45,896,205 (GRCm39)	D118G	probably null	Het
Cdh23	T	C	10: 60,148,366 (GRCm39)	D2667G	probably damaging	Het
Cdh4	A	T	2: 179,535,981 (GRCm39)	N844I	possibly damaging	Het
Cep57	T	C	9: 13,722,172 (GRCm39)		probably benign	Het
Dnah7a	A	T	1: 53,557,867 (GRCm39)	D2182E	probably damaging	Het
Dync1h1	A	G	12: 110,602,880 (GRCm39)	T2174A	probably benign	Het
Eef1akmt2	T	A	7: 132,453,201 (GRCm39)	R44*	probably null	Het
Evpl	T	A	11: 116,125,829 (GRCm39)	I43F	probably damaging	Het
F13a1	G	T	13: 37,172,927 (GRCm39)	P151Q	probably damaging	Het
Galnt5	A	T	2: 57,889,047 (GRCm39)	I216F	possibly damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gpr139	T	A	7: 118,744,268 (GRCm39)	T106S	probably benign	Het
Hoatz	T	C	9: 51,013,102 (GRCm39)	T57A	probably benign	Het
Hoxb3	A	G	11: 96,235,097 (GRCm39)	D8G	probably damaging	Het
Hpse	T	C	5: 100,840,128 (GRCm39)	K330E	possibly damaging	Het
Kcmf1	G	T	6: 72,827,470 (GRCm39)		probably null	Het
Klra2	T	C	6: 131,197,210 (GRCm39)	N263S	possibly damaging	Het
Klra8	T	C	6: 130,102,018 (GRCm39)	D139G	probably benign	Het
Lrrc46	A	C	11: 96,931,903 (GRCm39)		probably benign	Het
Ly86	A	T	13: 37,602,513 (GRCm39)		probably null	Het
Or4k5	A	T	14: 50,385,512 (GRCm39)	I273K	probably damaging	Het
Or52s1b	G	T	7: 102,822,409 (GRCm39)	A145E	probably benign	Het
Or6c1b	T	C	10: 129,273,140 (GRCm39)	I153T	possibly damaging	Het
Or6c209	G	A	10: 129,483,522 (GRCm39)	C175Y	probably benign	Het
Pigg	A	G	5: 108,460,751 (GRCm39)		probably benign	Het
Polq	C	A	16: 36,837,619 (GRCm39)	T177K	probably benign	Het
Pomgnt2	A	T	9: 121,811,326 (GRCm39)	V485E	probably damaging	Het
Ppip5k2	A	T	1: 97,687,057 (GRCm39)	C49*	probably null	Het
Prkrip1	T	C	5: 136,226,682 (GRCm39)	N53D	possibly damaging	Het
Prrc2b	T	C	2: 32,102,310 (GRCm39)		probably benign	Het
Qprt	T	C	7: 126,707,358 (GRCm39)	E246G	probably damaging	Het
Rpl9	A	G	5: 65,545,995 (GRCm39)	V167A	probably benign	Het
Rskr	T	C	11: 78,184,384 (GRCm39)	S244P	probably damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,436,702 (GRCm39)	I43V	probably benign	Het
Slc38a7	A	G	8: 96,567,109 (GRCm39)		probably benign	Het
Slc8b1	A	G	5: 120,662,265 (GRCm39)		probably benign	Het
Sp2	T	C	11: 96,852,525 (GRCm39)	Y133C	probably damaging	Het
Spdye4b	A	T	5: 143,181,430 (GRCm39)	D95V	probably damaging	Het
Srek1	T	C	13: 103,880,194 (GRCm39)	T455A	unknown	Het
Stox2	A	T	8: 47,656,317 (GRCm39)		probably benign	Het
Synrg	T	A	11: 83,878,736 (GRCm39)		probably benign	Het
Tie1	T	A	4: 118,341,550 (GRCm39)	E254V	probably damaging	Het
Tmem97	G	T	11: 78,433,414 (GRCm39)	F160L	probably damaging	Het
Utp6	A	T	11: 79,844,457 (GRCm39)	H189Q	possibly damaging	Het
Vip	T	A	10: 5,594,953 (GRCm39)	*172R	probably null	Het
Wdr91	T	C	6: 34,883,620 (GRCm39)	R132G	possibly damaging	Het
Wipi1	T	C	11: 109,469,110 (GRCm39)		probably benign	Het
Zfp445	A	G	9: 122,681,421 (GRCm39)	V840A	probably damaging	Het

Other mutations in Mmp20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ATGCTGTCGAGAATGTTACCCACC -3'
(R):5'- ACCTGAGTAAGAAGCAAGCTGTGC -3'

Sequencing Primer
(F):5'- GAGAATGTTACCCACCTTTTGTG -3'
(R):5'- AGCAAGCTGTGCATTGGG -3'

Posted On

2013-04-11