Mutagenetix > Incidental Mutations

Incidental Mutation 'R0763:Mmp15'

72516

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

MMRRC Submission

038943-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95352268-95375080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95368228 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 243 (D243E)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034243
AA Change: D243E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: D243E

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

0.0970

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 93.8%

Validation Efficiency

96% (52/54)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	C	6: 88,838,279	F290V	probably damaging	Het
Adam26b	G	A	8: 43,520,564	S467L	probably damaging	Het
Adgrv1	T	A	13: 81,499,125	I3099F	probably damaging	Het
Akap6	A	G	12: 53,142,214	D2137G	possibly damaging	Het
Arhgdig	T	C	17: 26,200,301	Y48C	probably damaging	Het
Astn1	A	G	1: 158,509,890	I389V	possibly damaging	Het
Atp8a1	T	C	5: 67,659,883	D920G	probably benign	Het
BC016579	T	A	16: 45,629,455	N200I	probably damaging	Het
Casc3	T	C	11: 98,831,318	Y661H	probably damaging	Het
Cep120	A	C	18: 53,721,737	V442G	probably benign	Het
Cfap65	A	G	1: 74,904,682	Y1557H	probably damaging	Het
Chd2	G	T	7: 73,447,274	Q1485K	possibly damaging	Het
Cntrl	T	C	2: 35,171,066	F1967L	probably benign	Het
Csmd1	G	A	8: 17,027,284	T119M	possibly damaging	Het
Dnah9	T	C	11: 66,155,530	H64R	probably benign	Het
Ep400	T	C	5: 110,665,837	R2899G	probably damaging	Het
Fam205a1	A	G	4: 42,851,238	V306A	probably damaging	Het
Foxl2	A	C	9: 98,956,033	T125P	probably damaging	Het
Foxred1	A	T	9: 35,207,473		probably null	Het
H2-Eb1	T	A	17: 34,314,159		probably benign	Het
Heatr3	T	C	8: 88,158,241	S378P	probably damaging	Het
Hectd4	T	C	5: 121,307,033		probably benign	Het
Hps3	T	G	3: 20,003,279	R780S	probably damaging	Het
Ifi44	G	A	3: 151,749,498	A30V	probably damaging	Het
Il12rb1	G	A	8: 70,813,290		probably benign	Het
Invs	G	A	4: 48,392,628	G281R	possibly damaging	Het
Itgax	C	A	7: 128,147,940		probably benign	Het
Jade1	G	T	3: 41,613,783	C762F	possibly damaging	Het
Lama1	C	T	17: 67,772,818	P1229S	probably damaging	Het
Mug2	A	G	6: 122,075,294	T1004A	probably benign	Het
Myh14	A	T	7: 44,665,367	V44E	probably damaging	Het
N4bp2l1	C	A	5: 150,594,404	R11S	possibly damaging	Het
Notch4	T	A	17: 34,565,332	C36*	probably null	Het
Nwd1	A	G	8: 72,671,044	D637G	probably damaging	Het
Ogfod1	T	C	8: 94,055,636	I238T	probably benign	Het
Palm2	G	A	4: 57,688,441	E95K	probably damaging	Het
Papln	A	G	12: 83,791,865	D1256G	possibly damaging	Het
Ppp1r26	T	C	2: 28,450,367	L3P	probably damaging	Het
Rbm10	C	T	X: 20,637,664		probably benign	Het
Slc17a5	A	T	9: 78,553,090		probably benign	Het
Slc25a17	A	G	15: 81,323,706		probably benign	Het
Socs4	T	C	14: 47,290,655	F349S	probably damaging	Het
Tchhl1	A	C	3: 93,471,571	E527D	probably benign	Het
Tm7sf3	A	G	6: 146,606,289	L425S	possibly damaging	Het
Tmem266	G	T	9: 55,414,955	V112L	probably damaging	Het
Tmem30c	T	A	16: 57,270,176	I223F	possibly damaging	Het
Tomm70a	G	A	16: 57,122,172	G104D	probably benign	Het
Ttc17	G	T	2: 94,332,803	A834E	probably benign	Het
Ttn	C	T	2: 76,731,190	V20664M	probably damaging	Het
Zbed5	T	C	5: 129,902,179	V323A	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGACATTCGGCTACGAAGGCG -3'
(R):5'- CGGGAAGGCATATTCAGTCACTCC -3'

Sequencing Primer
(F):5'- GAGCGGAGGCTGACATC -3'
(R):5'- tccccttctcttcccacc -3'

Posted On

2013-09-30