Mutagenetix > Incidental Mutations

Incidental Mutation 'R5543:Mmp15'

436105

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

MMRRC Submission

043101-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5543 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95352268-95375080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95368101 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 201 (F201S)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034243
AA Change: F201S

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: F201S

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	C	A	7: 128,237,181	S80I	probably benign	Het
Aak1	T	C	6: 86,982,645		probably null	Het
Abcc6	A	G	7: 45,989,536		probably null	Het
Acvr1	A	G	2: 58,463,145	S268P	probably damaging	Het
Apod	T	C	16: 31,303,533		probably null	Het
Atp5o	T	C	16: 91,926,530	I58V	probably benign	Het
AU040320	C	T	4: 126,841,224	T777M	probably damaging	Het
BC067074	C	A	13: 113,320,873	T1151K	probably damaging	Het
Ccne2	A	T	4: 11,194,026	N89I	probably benign	Het
Dnah7a	A	G	1: 53,504,069	V2314A	probably damaging	Het
Dopey2	T	C	16: 93,798,920	S1881P	probably damaging	Het
E4f1	A	G	17: 24,447,362	V24A	possibly damaging	Het
Esrrg	A	T	1: 188,150,254	D236V	probably damaging	Het
Fam240b	T	A	13: 64,485,922	I27F	possibly damaging	Het
Fat1	T	A	8: 45,023,479	I1854N	probably damaging	Het
Fchsd2	T	C	7: 101,271,699	Y480H	probably damaging	Het
Fras1	A	G	5: 96,528,535	N47S	probably benign	Het
Gabrr3	T	C	16: 59,433,507	S196P	probably damaging	Het
Gbp8	T	A	5: 105,017,830	D319V	possibly damaging	Het
Hrh3	G	T	2: 180,103,970	A61E	probably damaging	Het
Idua	T	C	5: 108,670,229	I89T	probably benign	Het
Ifitm3	T	A	7: 141,009,817	I108F	unknown	Het
Izumo4	T	C	10: 80,702,834	F40S	probably damaging	Het
Kifc2	A	G	15: 76,667,042	R679G	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Ldha	A	T	7: 46,850,890	I171F	possibly damaging	Het
Lrfn4	T	C	19: 4,612,163	S609G	probably benign	Het
Myof	C	T	19: 37,981,330	V295I	probably benign	Het
Olfr1024	G	T	2: 85,904,328	A242D	probably damaging	Het
Olfr30	T	A	11: 58,455,167	M261L	probably damaging	Het
Olfr354	C	T	2: 36,907,357	T137I	possibly damaging	Het
Parp14	T	C	16: 35,834,767	D1778G	probably benign	Het
Pcnt	A	T	10: 76,412,052	D969E	probably benign	Het
Pibf1	A	T	14: 99,112,992	N192I	probably benign	Het
Pitpnm3	A	G	11: 72,056,197	F792S	probably damaging	Het
Pkd2	T	A	5: 104,489,333	I604N	probably damaging	Het
Pla2g15	T	C	8: 106,161,143	Y188H	probably damaging	Het
Plxnc1	G	T	10: 94,864,774	D643E	probably benign	Het
Prrc2c	G	A	1: 162,673,511	P1241L	probably damaging	Het
Ptprd	T	C	4: 76,059,753	E173G	probably damaging	Het
Shank3	T	C	15: 89,532,354	V232A	probably damaging	Het
Shbg	A	G	11: 69,616,738	I171T	probably damaging	Het
Slc22a14	A	T	9: 119,173,608	F404L	probably benign	Het
Slc37a3	C	A	6: 39,355,026	G158C	probably damaging	Het
Slfn9	C	A	11: 82,982,381	L565F	probably damaging	Het
Tex43	G	A	18: 56,594,688		probably benign	Het
Trank1	T	A	9: 111,366,112	M1068K	probably damaging	Het
Trbv15	A	T	6: 41,141,253	I15L	probably benign	Het
Ttn	C	T	2: 76,739,574	V26992M	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ugt2b34	T	A	5: 86,906,701	I74F	probably damaging	Het
Vamp3	A	G	4: 151,051,020	L47P	probably damaging	Het
Zfp143	T	A	7: 110,083,315	C363*	probably null	Het
Zfp438	T	C	18: 5,213,761	E399G	probably 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
R1341:Mmp15	UTSW	8	95372303	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- CAGAACTACACTGAGAAGCTGG -3'
(R):5'- GGCTTCAGAGTCATGAATAGGG -3'

Sequencing Primer
(F):5'- AAGCTGGGCTGGTACAACTC -3'
(R):5'- GAGTCATGAATAGGGGACATTCTCTC -3'

Posted On

2016-10-24