Mutagenetix > Incidental Mutation

Incidental Mutation 'R1341:Mmp15'

157048

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

MMRRC Submission

039406-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1341 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

95352268-95375080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95372303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 586 (D586G)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034243]

AlphaFold

O54732

Predicted Effect

probably benign
Transcript: ENSMUST00000034243
AA Change: D586G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: D586G

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:PG_binding_1	42	102	3.2e-13	PFAM
ZnMc	131	301	5.31e-59	SMART
low complexity region	306	353	N/A	INTRINSIC
HX	370	413	5.92e-8	SMART
HX	415	459	2.31e-10	SMART
HX	462	508	2.98e-13	SMART
HX	510	555	2.01e-10	SMART
Pfam:DUF3377	586	657	1.2e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212235

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.9%

Validation Efficiency

96% (53/55)

MGI Phenotype

FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. A deficiency of the encoded protein in mice is compatible with normal development and postnatal growth. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v0e2	A	G	6: 48,540,111	Y75C	probably benign	Het
C87977	T	C	4: 144,207,559	D326G	probably damaging	Het
Cacna1g	A	G	11: 94,433,756	L1190P	probably damaging	Het
Ccdc190	A	G	1: 169,930,017	D15G	probably damaging	Het
Cep126	G	T	9: 8,099,776	P919Q	possibly damaging	Het
Chchd6	A	G	6: 89,384,641	V260A	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cramp1l	T	C	17: 24,977,540	K867E	probably damaging	Het
Dnah6	A	T	6: 73,191,619	N440K	probably benign	Het
Fbxw15	G	A	9: 109,558,246	S227F	probably damaging	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Gm17421	A	T	12: 113,369,714		noncoding transcript	Het
Gm4788	T	A	1: 139,732,393	T665S	probably damaging	Het
Hdac3	A	G	18: 37,954,713	V36A	probably damaging	Het
Hist1h2bl	T	C	13: 21,716,110	K12E	probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,260,635		probably null	Het
Itga10	G	A	3: 96,652,495	E489K	probably damaging	Het
Mgat5b	A	C	11: 116,978,397	I589L	probably benign	Het
Mindy4	A	G	6: 55,255,616	N348S	probably benign	Het
Mmp9	A	G	2: 164,949,327	D139G	probably damaging	Het
Morc2a	C	A	11: 3,680,216	L471I	possibly damaging	Het
Mycbp2	T	A	14: 103,298,867		probably benign	Het
Mylip	T	A	13: 45,405,936	S105T	probably damaging	Het
Nat8f4	A	T	6: 85,901,424	L39Q	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Obscn	T	C	11: 59,029,372		probably benign	Het
Olfr1086	T	C	2: 86,677,163	M57V	possibly damaging	Het
Olfr1337	T	C	4: 118,782,382	T68A	probably benign	Het
Olfr279	G	A	15: 98,498,254	V261M	possibly damaging	Het
Olfr633	T	A	7: 103,947,382	V272D	possibly damaging	Het
Olfr825	G	T	10: 130,163,316	D3E	probably benign	Het
Prl2c2	G	C	13: 13,002,201	T47R	probably damaging	Het
Rab11fip1	G	T	8: 27,143,360	A1106E	probably damaging	Het
Rfc1	A	G	5: 65,291,194	S363P	probably damaging	Het
Skint10	A	G	4: 112,765,031		probably benign	Het
Spen	T	C	4: 141,469,400	N3595D	possibly damaging	Het
Swsap1	A	G	9: 21,957,154	K241E	probably benign	Het
Tab1	A	G	15: 80,160,114	T448A	possibly damaging	Het
Tktl1	G	T	X: 74,197,683	G302V	probably damaging	Het
Uhrf1bp1	T	C	17: 27,877,419		probably benign	Het
Usp25	A	G	16: 77,115,443	T1017A	probably benign	Het
Vmn2r78	T	A	7: 86,922,269	M429K	possibly damaging	Het
Wdr49	A	T	3: 75,429,333	F356I	probably damaging	Het
Wnt1	T	C	15: 98,791,883	F184L	probably damaging	Het
Yy1	T	C	12: 108,793,519	I36T	unknown	Het
Zbtb39	A	G	10: 127,743,500	I648V	possibly damaging	Het

Other mutations in Mmp15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Mmp15	APN	8	95366331	missense	probably benign	0.31
IGL03001:Mmp15	APN	8	95368217	missense	probably damaging	0.97
R0147:Mmp15	UTSW	8	95372317	missense	probably benign	0.18
R0148:Mmp15	UTSW	8	95372317	missense	probably benign	0.18
R0437:Mmp15	UTSW	8	95370772	missense	probably benign	0.04
R0465:Mmp15	UTSW	8	95367998	missense	probably damaging	1.00
R0548:Mmp15	UTSW	8	95372351	missense	probably damaging	1.00
R0574:Mmp15	UTSW	8	95365401	missense	possibly damaging	0.73
R0685:Mmp15	UTSW	8	95372134	missense	possibly damaging	0.81
R0763:Mmp15	UTSW	8	95368228	missense	probably benign	0.01
R1428:Mmp15	UTSW	8	95369562	missense	probably benign	0.34
R1840:Mmp15	UTSW	8	95365420	missense	probably damaging	1.00
R2061:Mmp15	UTSW	8	95370779	missense	possibly damaging	0.91
R2219:Mmp15	UTSW	8	95370173	missense	probably benign	0.38
R4760:Mmp15	UTSW	8	95368196	missense	possibly damaging	0.61
R4762:Mmp15	UTSW	8	95372330	missense	probably benign	0.00
R5233:Mmp15	UTSW	8	95371068	missense	probably benign	0.08
R5394:Mmp15	UTSW	8	95366404	missense	probably damaging	0.96
R5502:Mmp15	UTSW	8	95368184	missense	possibly damaging	0.96
R5543:Mmp15	UTSW	8	95368101	missense	possibly damaging	0.85
R6027:Mmp15	UTSW	8	95372176	missense	probably benign	0.00
R6341:Mmp15	UTSW	8	95365463	critical splice donor site	probably null
R6720:Mmp15	UTSW	8	95365314	missense	probably benign	0.22
R7788:Mmp15	UTSW	8	95368148	missense	probably damaging	1.00
R8033:Mmp15	UTSW	8	95367962	missense	probably benign	0.01
R8679:Mmp15	UTSW	8	95366354	missense	possibly damaging	0.83
R8791:Mmp15	UTSW	8	95369660	nonsense	probably null
R9028:Mmp15	UTSW	8	95369688	missense	probably benign	0.01
R9227:Mmp15	UTSW	8	95366331	missense	probably benign	0.06
R9230:Mmp15	UTSW	8	95366331	missense	probably benign	0.06
R9350:Mmp15	UTSW	8	95366374	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCCGGAAGATCCAGGACCATTTAAC -3'
(R):5'- TGCATCTGCACCAGAGCAAAGG -3'

Sequencing Primer
(F):5'- ATCCAGGACCGTTTAACGTG -3'
(R):5'- GGCCAGGCCCAGAATACAG -3'

Posted On

2014-02-11