Mutagenetix > Incidental Mutations

Incidental Mutation 'R5233:Mmp15'

398133

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

MMRRC Submission

042805-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5233 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95352268-95375080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95371068 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 502 (V502A)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034243
AA Change: V502A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: V502A

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

0.1950

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (56/56)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030619P08Rik	T	A	15: 75,429,952		noncoding transcript	Het
Aadat	A	G	8: 60,526,622	I173V	probably benign	Het
Acsl6	G	A	11: 54,325,606	V200I	possibly damaging	Het
Alms1	T	A	6: 85,656,371		probably null	Het
Arhgef17	A	T	7: 100,881,369	D1403E	possibly damaging	Het
Atp10b	A	G	11: 43,230,560	T1017A	probably benign	Het
Capg	C	T	6: 72,555,526	R25C	probably damaging	Het
Cd22	A	G	7: 30,877,534	I116T	probably damaging	Het
Cep135	AGTCTGCCTTTGG	A	5: 76,591,843		probably benign	Het
Ciita	A	T	16: 10,509,401	I277F	possibly damaging	Het
Col15a1	T	C	4: 47,296,112	V943A	possibly damaging	Het
Coq2	G	A	5: 100,657,832	H313Y	possibly damaging	Het
Csn3	C	T	5: 87,929,835	P67S	probably benign	Het
Csrnp3	A	G	2: 66,022,340	T359A	possibly damaging	Het
Cttnbp2nl	A	G	3: 105,005,041	L509P	probably damaging	Het
Dclk3	A	G	9: 111,468,681	D431G	probably benign	Het
Dtx3l	A	T	16: 35,933,238	C333S	possibly damaging	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Fam171a1	G	C	2: 3,178,353	G72A	probably damaging	Het
Fbxw17	T	C	13: 50,432,354		probably benign	Het
Fry	A	G	5: 150,469,720	D605G	possibly damaging	Het
Fyn	T	C	10: 39,529,940	F240S	probably benign	Het
Gcfc2	T	C	6: 81,953,290	L646P	probably damaging	Het
Gm5087	C	T	14: 13,158,788		noncoding transcript	Het
Got2	T	A	8: 95,875,849	N91I	probably benign	Het
Hspa4	C	T	11: 53,286,975	V103I	possibly damaging	Het
Itgad	A	G	7: 128,193,428		probably null	Het
Krt33a	A	G	11: 100,014,135	S182P	probably damaging	Het
Mcph1	T	C	8: 18,671,238	I694T	probably damaging	Het
Mov10l1	T	C	15: 88,983,032	V23A	probably benign	Het
Myo9a	T	A	9: 59,910,617	N2322K	probably damaging	Het
Ndst4	A	G	3: 125,710,117	Y11C	probably damaging	Het
Nell1	T	C	7: 50,176,314	F199S	probably damaging	Het
Nup210	C	T	6: 91,026,969	V646M	probably damaging	Het
Nup98	A	T	7: 102,195,822	S13R	unknown	Het
Nxf1	T	C	19: 8,763,929	I54T	possibly damaging	Het
Olfr885	A	G	9: 38,062,150	T277A	probably damaging	Het
Pcdh10	C	A	3: 45,384,191	R928S	probably damaging	Het
Pou3f3	A	G	1: 42,698,278	N378S	probably benign	Het
Rfx6	T	A	10: 51,712,091	Y109*	probably null	Het
Rorc	T	A	3: 94,397,325	V339D	probably benign	Het
Scin	T	A	12: 40,077,559	I411F	probably benign	Het
Serpind1	A	G	16: 17,336,894	Y195C	probably damaging	Het
Tas2r117	T	C	6: 132,803,622	V241A	possibly damaging	Het
Tet3	T	A	6: 83,386,063	E709V	probably damaging	Het
Trbc1	T	A	6: 41,538,449		probably benign	Het
Vmn1r212	C	A	13: 22,883,134	G343V	unknown	Het
Vmn2r42	T	A	7: 8,194,838	K261*	probably null	Het
Xrcc5	T	A	1: 72,340,050	L438Q	probably damaging	Het
Zfp142	T	C	1: 74,585,449	N72S	probably damaging	Het
Zfp292	A	T	4: 34,809,755	S1096R	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
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

Predicted Primers

PCR Primer
(F):5'- TTTCAAGCAGACAGGTGAGC -3'
(R):5'- TCATGCTGGAACATGGCAC -3'

Sequencing Primer
(F):5'- TTCCCTTAAAGGAAGAGGCTCTAGC -3'
(R):5'- TGGCACAGTTAGGTCCCC -3'

Posted On

2016-07-06