Mutagenetix > Incidental Mutation

Incidental Mutation 'R8902:Mmp20'

678247

Institutional Source

Beutler Lab

Gene Symbol

Mmp20

Ensembl Gene

ENSMUSG00000018620

Gene Name

matrix metallopeptidase 20 (enamelysin)

Synonyms

MMRRC Submission

068759-MU

Accession Numbers

Essential gene?

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

Stock #

R8902 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7628232-7674969 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7639288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 152 (V152A)

Ref Sequence

ENSEMBL: ENSMUSP00000034487 (fasta)

Gene Model

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

AlphaFold

P57748

Predicted Effect

probably benign
Transcript: ENSMUST00000034487
AA Change: V152A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034487
Gene: ENSMUSG00000018620
AA Change: V152A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	G	T	4: 155,990,371 (GRCm39)	R819L	possibly damaging	Het
App	A	G	16: 84,876,767 (GRCm39)	V208A	unknown	Het
C1qtnf7	G	A	5: 43,773,204 (GRCm39)	E168K	probably damaging	Het
Cacna1e	C	T	1: 154,349,632 (GRCm39)	M757I	probably benign	Het
Casp1	A	G	9: 5,299,333 (GRCm39)	T21A	probably benign	Het
Ccdc92	C	T	5: 124,912,705 (GRCm39)	A275T	possibly damaging	Het
Ccr4	T	A	9: 114,325,620 (GRCm39)		probably benign	Het
Cct8l1	C	T	5: 25,722,908 (GRCm39)	T541I	probably benign	Het
Chrng	G	T	1: 87,138,397 (GRCm39)	R396L	possibly damaging	Het
Cmip	A	G	8: 118,103,925 (GRCm39)	T50A	probably damaging	Het
Ddx21	C	A	10: 62,434,486 (GRCm39)	S91I	probably benign	Het
Dnmbp	A	G	19: 43,890,225 (GRCm39)	L514P	probably benign	Het
Echs1	A	T	7: 139,690,499 (GRCm39)	M191K	probably damaging	Het
Eps8	A	G	6: 137,489,175 (GRCm39)	S408P	probably damaging	Het
Fat2	T	C	11: 55,200,896 (GRCm39)	E726G	probably damaging	Het
Fpr2	T	C	17: 18,113,190 (GRCm39)	I62T	probably benign	Het
Gemin4	G	A	11: 76,102,848 (GRCm39)	Q638*	probably null	Het
Glrb	A	T	3: 80,769,285 (GRCm39)	N147K	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gtf2i	T	C	5: 134,278,720 (GRCm39)	N637S	probably benign	Het
Hivep3	A	G	4: 119,953,937 (GRCm39)	E751G	possibly damaging	Het
Ifnb1	G	T	4: 88,440,547 (GRCm39)	N155K	probably damaging	Het
Igf2bp3	G	T	6: 49,065,365 (GRCm39)	T509K	probably damaging	Het
Igsf10	T	C	3: 59,243,633 (GRCm39)	M234V	probably benign	Het
Iqgap2	C	T	13: 95,818,711 (GRCm39)	A682T	probably benign	Het
Ireb2	T	G	9: 54,799,786 (GRCm39)	M409R	probably benign	Het
Kat6b	C	T	14: 21,719,629 (GRCm39)	T1327I	probably benign	Het
Krtap5-5	A	G	7: 141,783,630 (GRCm39)	S7P	unknown	Het
Lelp1	A	T	3: 92,042,978 (GRCm39)	C24S	unknown	Het
Malrd1	A	T	2: 16,260,145 (GRCm39)	K2122*	probably null	Het
Mei1	C	A	15: 81,954,212 (GRCm39)	R6S	unknown	Het
Meis3	T	A	7: 15,911,887 (GRCm39)	I119N	probably benign	Het
Muc6	T	A	7: 141,233,791 (GRCm39)	I797F	possibly damaging	Het
Myo7a	C	T	7: 97,741,820 (GRCm39)	E439K	probably damaging	Het
Neb	C	A	2: 52,133,222 (GRCm39)	A3439S	probably damaging	Het
Nfe2l1	T	A	11: 96,708,620 (GRCm39)	D715V	unknown	Het
Obscn	C	A	11: 59,026,762 (GRCm39)	R147L	probably benign	Het
Or14j5	T	A	17: 38,162,101 (GRCm39)	M206K	probably benign	Het
Or2m12	T	A	16: 19,105,383 (GRCm39)	I37F	probably damaging	Het
Or2y1b	A	T	11: 49,209,206 (GRCm39)	T278S	probably benign	Het
Or4e5	G	A	14: 52,728,010 (GRCm39)	T137I	probably benign	Het
Or5d38	A	G	2: 87,954,778 (GRCm39)	S184P	probably damaging	Het
Plg	T	A	17: 12,629,790 (GRCm39)	F608Y	probably benign	Het
Plppr1	C	A	4: 49,319,836 (GRCm39)	P154Q	probably damaging	Het
Ppp2r5e	T	C	12: 75,500,570 (GRCm39)	K441R	probably benign	Het
Prkaca	T	C	8: 84,703,714 (GRCm39)	S5P	probably benign	Het
Rbl1	T	C	2: 157,041,420 (GRCm39)	K69R	probably benign	Het
Rbpms2	T	C	9: 65,558,351 (GRCm39)	I129T	probably benign	Het
Serpina1c	A	T	12: 103,865,117 (GRCm39)	N176K	probably damaging	Het
Sgsm3	C	T	15: 80,890,796 (GRCm39)	H117Y	probably damaging	Het
Sphkap	A	T	1: 83,256,685 (GRCm39)	C355S	probably benign	Het
Stpg2	T	A	3: 139,004,170 (GRCm39)	V249E	probably damaging	Het
Syt2	T	C	1: 134,675,391 (GRCm39)	V414A	possibly damaging	Het
Tiam2	T	C	17: 3,527,471 (GRCm39)	I1050T	probably benign	Het
Tmem131	A	T	1: 36,848,046 (GRCm39)	I1134N	probably damaging	Het
Ttc23	A	G	7: 67,342,761 (GRCm39)	E293G		Het
Ttc41	C	A	10: 86,548,865 (GRCm39)	R20S	probably benign	Het
Ttn	C	T	2: 76,571,133 (GRCm39)	V26587M	probably damaging	Het
Ugt2a2	T	C	5: 87,608,270 (GRCm39)	K523R	possibly damaging	Het
Unc13c	A	G	9: 73,656,830 (GRCm39)	C1124R	probably damaging	Het
Ush2a	T	A	1: 188,175,281 (GRCm39)	N1126K	probably damaging	Het
Usp36	A	T	11: 118,165,840 (GRCm39)	L326Q	probably damaging	Het
Zfp568	T	C	7: 29,713,307 (GRCm39)	M120T	probably benign	Het
Zfp944	T	C	17: 22,558,761 (GRCm39)	D162G	probably benign	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
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
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'- TCCCTAGTGTCCTGTGTGAC -3'
(R):5'- CACTGTGTGATGGAATCCTGTG -3'

Sequencing Primer
(F):5'- CCTAGTGTCCTGTGTGACATGAAAC -3'
(R):5'- GATGGAATCCTGTGTTGCTCATTCC -3'

Posted On

2021-08-02