Mutagenetix > Incidental Mutation

Incidental Mutation 'R0548:Mmp15'

44979

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

MMRRC Submission

038740-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0548 (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 95372351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 602 (V602A)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

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

AlphaFold

O54732

Predicted Effect

probably damaging
Transcript: ENSMUST00000034243
AA Change: V602A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: V602A

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

0.1599

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (62/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	G	8: 40,826,467	C632G	probably damaging	Het
Adamtsl3	T	C	7: 82,528,983		probably null	Het
Agfg1	A	G	1: 82,886,431	T447A	probably damaging	Het
Ankrd37	C	T	8: 45,998,396		probably null	Het
Apob	A	T	12: 8,006,282	D1555V	probably damaging	Het
Asxl3	T	A	18: 22,521,792		probably benign	Het
Brca2	C	A	5: 150,544,935	D2242E	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Cdk5rap2	A	T	4: 70,349,142		probably null	Het
Cox10	A	T	11: 63,976,352	Y273N	probably damaging	Het
Dcbld2	A	T	16: 58,455,145	D408V	probably damaging	Het
Enam	A	T	5: 88,503,105	E824D	probably damaging	Het
Epm2aip1	T	C	9: 111,273,341	Y461H	probably damaging	Het
Fam72a	T	A	1: 131,533,861	S95T	probably damaging	Het
Fiz1	A	T	7: 5,009,168	V117D	possibly damaging	Het
Gm10355	C	T	3: 101,307,060		noncoding transcript	Het
Gm11595	A	T	11: 99,772,141	C238S	unknown	Het
Gm7589	T	G	9: 59,146,156		noncoding transcript	Het
H6pd	A	T	4: 149,981,616	V771E	probably damaging	Het
Htt	T	C	5: 34,870,746	L1782P	probably damaging	Het
Il33	T	C	19: 29,954,647	S147P	probably benign	Het
Lct	T	C	1: 128,285,195	Y1907C	probably damaging	Het
Lrp2	G	A	2: 69,537,638		probably benign	Het
Map1b	T	C	13: 99,431,683	K1510R	unknown	Het
Marco	T	C	1: 120,492,038	T187A	probably benign	Het
Mki67	T	A	7: 135,695,256	K2683M	probably damaging	Het
Mki67	A	T	7: 135,696,908	N2132K	possibly damaging	Het
Mphosph10	T	A	7: 64,378,800	M536L	probably benign	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
N4bp2	G	T	5: 65,808,153	V1182L	probably benign	Het
Nlrc5	C	A	8: 94,521,783	F1715L	probably null	Het
Nsd2	T	A	5: 33,893,538	V1253E	probably damaging	Het
Numa1	T	C	7: 101,995,524	S236P	possibly damaging	Het
Olfr1225	C	A	2: 89,170,648	C188F	probably damaging	Het
Olfr1537	A	T	9: 39,238,371	S18T	probably benign	Het
Olfr437	T	A	6: 43,167,187	I43K	probably benign	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,748,449		probably benign	Het
Pi4ka	A	T	16: 17,307,718	N4K	possibly damaging	Het
Plxna4	A	T	6: 32,158,015	I1751N	probably damaging	Het
Postn	C	A	3: 54,367,576	S122*	probably null	Het
Ppp4r4	A	T	12: 103,612,815	R762*	probably null	Het
Rrm1	G	T	7: 102,467,067		probably null	Het
Rrp15	A	G	1: 186,736,234	V195A	probably benign	Het
Rtl1	T	A	12: 109,591,655	D1250V	probably damaging	Het
Rxrg	T	C	1: 167,631,219		probably benign	Het
Scn10a	T	C	9: 119,665,928	K416E	probably benign	Het
Serping1	T	C	2: 84,770,081		probably benign	Het
Slc12a6	T	C	2: 112,335,924		probably null	Het
Smo	A	T	6: 29,759,586	Q639L	possibly damaging	Het
Synrg	T	C	11: 83,982,188		probably benign	Het
Tars2	T	C	3: 95,742,659	D470G	probably damaging	Het
Tln1	T	C	4: 43,542,709	N1399S	possibly damaging	Het
Tmem131	A	G	1: 36,838,038	V240A	probably damaging	Het
Tmem232	G	A	17: 65,382,620	T500I	probably benign	Het
Tmem57	T	C	4: 134,806,660	D550G	probably damaging	Het
Toporsl	G	A	4: 52,612,140	V678M	possibly damaging	Het
Vmn1r7	A	T	6: 57,025,081	F65I	probably damaging	Het
Wdfy4	C	T	14: 33,042,621	M2257I	probably benign	Het
Wdr20rt	T	A	12: 65,227,315	D344E	probably benign	Het
Xirp2	C	T	2: 67,514,414	A2333V	probably benign	Het
Zfyve16	T	C	13: 92,494,944	K1381R	probably benign	Het
Zscan18	G	T	7: 12,774,176	P466T	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
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'- AACGAACGCCTACGGATGGAAC -3'
(R):5'- AGATCTCAAAGCATCTCCTGGCCC -3'

Sequencing Primer
(F):5'- TACGGATGGAACCCGGC -3'
(R):5'- GGGTGCTACCTGATCACAC -3'

Posted On

2013-06-11