Mutagenetix > Incidental Mutations

Incidental Mutation 'R0685:Mmp15'

61126

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

MMRRC Submission

038870-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0685 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

95352268-95375080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95372134 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 530 (Y530H)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034243
AA Change: Y530H

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: Y530H

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

0.5940

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (89/91)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,593,438	D17G	probably damaging	Het
Abi3bp	A	G	16: 56,532,953	T82A	possibly damaging	Het
Adgre4	A	C	17: 55,792,035	E180D	probably benign	Het
Ankrd28	G	A	14: 31,743,450		probably benign	Het
Aoc3	A	G	11: 101,336,447	D382G	possibly damaging	Het
Apob	C	A	12: 8,010,742	R3075S	probably benign	Het
Aqr	A	G	2: 114,140,977	F459S	probably damaging	Het
Bcr	T	C	10: 75,131,643	W570R	probably damaging	Het
Bloc1s5	C	T	13: 38,603,919	R163K	probably benign	Het
Bod1	A	T	11: 31,669,267	N101K	possibly damaging	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Chl1	G	A	6: 103,708,542		probably null	Het
Clstn1	G	A	4: 149,646,855	A885T	probably benign	Het
Cyp3a25	G	T	5: 145,998,546	P87T	probably damaging	Het
Dync1h1	T	C	12: 110,657,192	V3633A	probably damaging	Het
Elp4	C	A	2: 105,792,277	C241F	possibly damaging	Het
Fat4	T	A	3: 39,001,178	F4182Y	probably benign	Het
Gabbr2	G	A	4: 46,787,521	H381Y	possibly damaging	Het
Gm10577	G	T	4: 101,020,318		probably benign	Het
Gm884	T	C	11: 103,616,888		probably benign	Het
Gm9955	G	T	18: 24,709,257		probably benign	Het
Gstm5	T	A	3: 107,897,319	I73N	probably damaging	Het
Gypa	T	A	8: 80,496,702		probably benign	Het
Hectd2	T	A	19: 36,569,431	V64D	probably damaging	Het
Igkv10-95	T	A	6: 68,680,559	Y20N	probably benign	Het
Il15	T	C	8: 82,337,559		probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kiz	C	A	2: 146,856,058		probably benign	Het
Lcmt2	C	A	2: 121,139,240	S234I	probably benign	Het
Lilra5	A	G	7: 4,241,957		probably benign	Het
Lin37	T	C	7: 30,555,874	E187G	probably damaging	Het
Mcmdc2	T	A	1: 9,911,814		probably null	Het
Mctp1	T	C	13: 76,825,799		probably null	Het
Mdp1	C	A	14: 55,659,269	G112*	probably null	Het
Mtss1l	T	C	8: 110,727,397		probably null	Het
Muc5ac	T	C	7: 141,807,709	S1586P	probably benign	Het
Nap1l5	A	T	6: 58,906,772	C66S	possibly damaging	Het
Ninl	G	T	2: 150,939,855	Q1237K	possibly damaging	Het
Olfr1160	T	C	2: 88,006,418	E111G	probably damaging	Het
Olfr495	A	T	7: 108,395,263	T48S	possibly damaging	Het
Orc6	T	G	8: 85,301,154	S37R	possibly damaging	Het
Papss1	A	C	3: 131,583,093	N119H	possibly damaging	Het
Phf13	A	T	4: 151,991,612	F278I	probably damaging	Het
Pole2	C	A	12: 69,211,413	A239S	probably damaging	Het
Ppt2	T	C	17: 34,626,572	D75G	probably damaging	Het
Psd2	A	G	18: 36,002,991	D443G	possibly damaging	Het
Psen1	C	A	12: 83,714,820	S132*	probably null	Het
Psme4	A	G	11: 30,878,415	T1812A	probably damaging	Het
Rasgrf1	T	C	9: 89,915,482		probably benign	Het
Reep3	A	G	10: 67,021,739		probably benign	Het
Rexo4	A	T	2: 26,958,574		probably benign	Het
Rnf6	A	C	5: 146,211,658	S183R	probably damaging	Het
Scai	A	T	2: 39,103,737	M297K	probably damaging	Het
Scn9a	A	T	2: 66,483,499	S1947R	probably benign	Het
Sema6c	T	C	3: 95,172,710	C772R	possibly damaging	Het
Skint7	T	C	4: 111,980,345	S107P	possibly damaging	Het
Slc24a3	A	G	2: 145,606,795	N420D	probably benign	Het
Smc1b	T	C	15: 85,070,820	D1077G	possibly damaging	Het
Smg7	G	A	1: 152,866,648	P82L	probably damaging	Het
Sp3	A	C	2: 72,970,998	F268V	probably damaging	Het
Srms	T	C	2: 181,212,633	D47G	probably benign	Het
Ss18	A	C	18: 14,651,181	M150R	probably damaging	Het
Taf5	G	A	19: 47,074,854	R281Q	probably benign	Het
Tars	T	C	15: 11,385,173	K644R	probably benign	Het
Tctex1d1	T	C	4: 103,002,538	Y96H	probably damaging	Het
Tinag	C	A	9: 76,952,003	W441L	probably damaging	Het
Tmtc1	T	C	6: 148,411,240	S244G	probably benign	Het
Tpr	T	C	1: 150,433,725	V1670A	possibly damaging	Het
Trpv3	A	G	11: 73,296,814		probably benign	Het
Uhrf1	G	T	17: 56,310,742	V155L	probably damaging	Het
Ush2a	G	A	1: 188,400,278	C899Y	probably damaging	Het
Vmn2r115	G	A	17: 23,359,275	R574H	probably benign	Het
Vmn2r63	T	C	7: 42,928,010	D368G	probably benign	Het
Vps13a	A	G	19: 16,780,741	V10A	probably damaging	Het
Wbp11	A	G	6: 136,814,638		probably benign	Het
Zcwpw1	A	G	5: 137,799,592	D145G	probably benign	Het
Zfp607a	G	A	7: 27,878,476	V324I	probably damaging	Het
Zfp618	A	G	4: 63,133,774	I931V	probably benign	Het
Zfp821	T	C	8: 109,724,542	V389A	possibly damaging	Het
Zfp976	T	A	7: 42,613,717	H232L	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
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

Predicted Primers

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

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

Posted On

2013-07-30