Mutagenetix > Incidental Mutation

Incidental Mutation 'R0465:Mmp15'

41579

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

MMRRC Submission

038665-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0465 (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 95367998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 167 (W167R)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

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

AlphaFold

O54732

Predicted Effect

probably damaging
Transcript: ENSMUST00000034243
AA Change: W167R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: W167R

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

0.9743

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	A	G	2: 148,783,425	N93S	probably benign	Het
Adgre4	T	A	17: 55,785,137		probably benign	Het
Ankrd13a	T	A	5: 114,804,234	I526N	probably damaging	Het
Aox1	G	A	1: 58,062,207	V446I	probably damaging	Het
Arid1b	G	A	17: 4,996,260	G441D	possibly damaging	Het
BC027072	A	G	17: 71,750,160	C841R	probably benign	Het
Bdkrb2	A	T	12: 105,591,859	N120Y	possibly damaging	Het
Bud31	G	A	5: 145,146,586	V80I	probably damaging	Het
Camkmt	T	A	17: 85,431,522	F225L	probably damaging	Het
Carf	T	C	1: 60,131,983	M200T	probably damaging	Het
Carmil3	T	C	14: 55,499,861	L767P	probably damaging	Het
Cdk14	T	A	5: 5,093,019	R237S	probably damaging	Het
Cdx2	C	A	5: 147,306,473	K170N	possibly damaging	Het
Cfap65	G	A	1: 74,916,884	R1093C	possibly damaging	Het
Cnot8	T	A	11: 58,114,060	V195E	probably damaging	Het
Copa	T	C	1: 172,118,305	F936S	probably damaging	Het
Dnaic1	T	A	4: 41,629,988		probably null	Het
Dsel	T	C	1: 111,862,262	N181S	probably benign	Het
Enpp7	A	G	11: 118,988,781	N87S	probably damaging	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm12695	T	C	4: 96,785,075	Y29C	probably damaging	Het
Gm5592	T	A	7: 41,156,057		probably benign	Het
Gmnc	T	G	16: 26,962,952	N109T	probably damaging	Het
Gstcd	A	G	3: 132,983,144	I615T	probably benign	Het
Hal	A	C	10: 93,516,284	K646Q	probably benign	Het
Hbs1l	A	G	10: 21,352,041	I472V	probably null	Het
Ift27	A	T	15: 78,173,758		probably benign	Het
Iqub	A	T	6: 24,503,784	I163N	probably damaging	Het
Isg20l2	T	A	3: 87,931,680	V66E	probably benign	Het
Itgb4	T	C	11: 115,979,756	M137T	probably damaging	Het
Lca5	T	A	9: 83,395,867	K475*	probably null	Het
Lyve1	A	G	7: 110,852,827		probably null	Het
Map3k19	T	C	1: 127,838,527	D220G	probably damaging	Het
Mdn1	T	A	4: 32,699,204		probably benign	Het
Ms4a13	A	G	19: 11,172,593	C135R	probably benign	Het
Myh1	A	G	11: 67,210,417	H673R	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Oas2	A	G	5: 120,735,055	I645T	probably damaging	Het
Olfr605	A	T	7: 103,442,835	F96Y	possibly damaging	Het
Pard3b	T	G	1: 62,211,718		probably benign	Het
Patj	T	A	4: 98,535,507		probably null	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 109,623,663	S380N	probably benign	Het
Rab34	C	A	11: 78,190,511	C67*	probably null	Het
Rimbp3	T	C	16: 17,211,780	S1023P	possibly damaging	Het
Rnf148	T	C	6: 23,654,685	N104S	probably benign	Het
Rpa1	T	C	11: 75,313,095	T288A	probably damaging	Het
Scn9a	A	G	2: 66,526,996	L976P	probably damaging	Het
Serpina12	T	A	12: 104,037,845	D176V	probably benign	Het
Sik1	C	T	17: 31,855,022	V10I	possibly damaging	Het
Sntb1	C	A	15: 55,749,276	R302L	probably benign	Het
Stambp	A	G	6: 83,570,339	I56T	probably benign	Het
Tac2	A	G	10: 127,729,170		probably benign	Het
Tecta	A	T	9: 42,359,418	I1198K	possibly damaging	Het
Tfip11	C	T	5: 112,333,264	R369C	probably benign	Het
Tnpo1	A	G	13: 98,884,634	I79T	probably damaging	Het
Ttll5	A	T	12: 85,933,326	N895Y	probably benign	Het
Ube2u	T	A	4: 100,532,096		probably benign	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Vmn2r1	T	C	3: 64,081,759	S40P	possibly damaging	Het
Vmn2r100	G	A	17: 19,531,530	V612I	probably damaging	Het
Vmn2r59	G	T	7: 42,046,908	H137N	probably benign	Het
Vsig10l	T	C	7: 43,467,442	V467A	probably damaging	Het
Vwde	A	G	6: 13,215,806		probably benign	Het
Xrra1	T	A	7: 99,879,371	D139E	probably benign	Het
Zc3h15	T	C	2: 83,663,815		probably benign	Het
Zfhx4	C	T	3: 5,245,656		probably benign	Het
Zscan18	A	G	7: 12,775,486		probably benign	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
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
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
R9632:Mmp15	UTSW	8	95372103	critical splice acceptor site	probably null
R9695:Mmp15	UTSW	8	95370786	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- GCAATGGACGGTGGTATCCCATAG -3'
(R):5'- ACATTCTCTCCTCCTGAGCCTGAAG -3'

Sequencing Primer
(F):5'- GTGGTATCCCATAGGCCCTTATC -3'
(R):5'- TCCTGAGCCTGAAGCTACTG -3'

Posted On

2013-05-23