Mutagenetix > Incidental Mutation

Incidental Mutation 'R9230:Mmp15'

700175

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9230 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95352268-95375080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95366331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 113 (F113L)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

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

AlphaFold

O54732

Predicted Effect

probably benign
Transcript: ENSMUST00000034243
AA Change: F113L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: F113L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,321,792	F274I	probably damaging	Het
Aen	T	A	7: 78,902,359	D22E	probably damaging	Het
Appl1	T	C	14: 26,923,735	E706G	unknown	Het
Arhgap21	T	C	2: 20,855,658	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,947,939	Y511C	probably damaging	Het
BC027072	A	G	17: 71,750,222	L820P	probably damaging	Het
Bsn	T	C	9: 108,112,260	T2098A	probably damaging	Het
Cacna1h	T	C	17: 25,380,882	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,549,794	I563T	probably benign	Het
Cd180	TA	TAA	13: 102,705,006		probably null	Het
Cd55b	A	T	1: 130,422,882	L26*	probably null	Het
Cdc42bpa	A	G	1: 180,106,073	N759S	probably benign	Het
Chrm3	C	A	13: 9,878,443	V186L	probably benign	Het
Clrn2	A	G	5: 45,463,941	T226A	probably damaging	Het
Col3a1	C	T	1: 45,343,978	P1071S	unknown	Het
Csgalnact2	A	G	6: 118,126,251	L250P	probably damaging	Het
Cyp4a31	G	T	4: 115,571,084	E326*	probably null	Het
Def8	A	G	8: 123,459,578	E352G	probably benign	Het
Dmbt1	A	G	7: 131,037,912	D60G	probably benign	Het
Dock3	A	G	9: 106,930,024	L1368P	probably damaging	Het
Dytn	A	T	1: 63,647,452	V353D	probably benign	Het
Egfem1	G	A	3: 29,357,168	E155K	probably benign	Het
Eif3m	A	T	2: 105,001,360	M285K	probably damaging	Het
Fam135b	T	C	15: 71,464,007	K446R	probably benign	Het
Fam196a	A	T	7: 134,918,710	Y30*	probably null	Het
Fbxo22	T	C	9: 55,209,158	L36P	probably damaging	Het
Frmd4a	T	C	2: 4,608,033	S1025P	possibly damaging	Het
Gif	G	A	19: 11,760,384	W386*	probably null	Het
Gja8	C	T	3: 96,919,348	V333M	possibly damaging	Het
Glis1	T	C	4: 107,568,130	S313P	probably benign	Het
Gm11487	C	T	4: 73,401,448	A264T	probably benign	Het
Gm3376	T	G	Y: 3,774,819	D5E	probably damaging	Het
Grid2ip	G	A	5: 143,373,439	R270Q	probably damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Hspa4	T	C	11: 53,280,639	E246G	probably benign	Het
Ibtk	A	G	9: 85,703,649		probably null	Het
Ifit1	A	G	19: 34,647,836	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,571,515	D95G	probably benign	Het
Igsf10	G	A	3: 59,336,422	R164W	probably damaging	Het
Ilkap	A	C	1: 91,387,215	I142S	probably benign	Het
Kctd14	C	G	7: 97,454,897	P53R	unknown	Het
Kndc1	A	T	7: 139,920,684	D655V	probably damaging	Het
Krt2	A	C	15: 101,817,513	S197A	probably benign	Het
Lpin1	A	T	12: 16,538,482	S902R	unknown	Het
Mapk13	T	C	17: 28,775,558	I141T	probably damaging	Het
Micall2	A	G	5: 139,716,072	V472A	unknown	Het
Msh2	T	G	17: 87,719,289	S738A	probably benign	Het
Muc20	T	G	16: 32,793,214	T598P	probably damaging	Het
Myo1f	T	C	17: 33,576,450	V53A	probably damaging	Het
Ncf1	A	T	5: 134,221,864	N367K	probably benign	Het
Nme8	T	G	13: 19,690,214	I139L	probably benign	Het
Odam	T	C	5: 87,886,598	F46L	probably benign	Het
Olfr559	C	A	7: 102,723,588	V301F	possibly damaging	Het
Olfr8	G	A	10: 78,956,095	D297N	possibly damaging	Het
Pi4ka	A	G	16: 17,281,924	I1945T		Het
Rell1	T	C	5: 63,939,762		probably benign	Het
Ripk3	A	G	14: 55,785,846	F134S	probably benign	Het
Sclt1	A	T	3: 41,711,196	W146R	probably benign	Het
Slc18a2	T	C	19: 59,273,215	M178T	probably benign	Het
Slc24a5	G	T	2: 125,080,648	G110V	probably damaging	Het
Slc38a10	T	A	11: 120,105,955	D772V	probably benign	Het
Slc9c1	T	C	16: 45,577,912	L680P	possibly damaging	Het
Tll2	T	A	19: 41,104,997	Y477F	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tnrc18	G	T	5: 142,787,637	A479D		Het
Topaz1	T	A	9: 122,767,032	M956K	probably benign	Het
Vmn2r56	T	A	7: 12,710,310	D465V	possibly damaging	Het
Xndc1	T	A	7: 102,073,269	V47E	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
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
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'- GAGTCACTCCTTAGCGTTCAATC -3'
(R):5'- AGTGACCCATCTTTCCCTGG -3'

Sequencing Primer
(F):5'- GCGTTCAATCTTCTTAAAATGGAATC -3'
(R):5'- CCCTAGATTGTGAGCTGGGAC -3'

Posted On

2022-02-07