Mutagenetix > Incidental Mutation

Incidental Mutation 'R9695:Mmp15'

729221

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 #

R9695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95352268-95375080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 95370786 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 461 (R461L)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

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

AlphaFold

O54732

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034243
AA Change: R461L

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: R461L

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

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,182,307	T1A		Het
Adgrl1	G	A	8: 83,938,431	R1249Q	probably damaging	Het
Apeh	G	A	9: 108,086,284	R580C	probably damaging	Het
Armc12	T	A	17: 28,531,019	C46S	probably benign	Het
Avpr1a	C	T	10: 122,448,940	R46C	probably damaging	Het
Cbln4	C	G	2: 172,037,549	G140R	probably damaging	Het
Ccdc89	A	G	7: 90,427,344	N254S	probably benign	Het
Cd96	T	A	16: 46,099,047	I204F	probably damaging	Het
Cel	G	T	2: 28,560,949	L101I	probably damaging	Het
Crtap	A	T	9: 114,386,310	Y170*	probably null	Het
Ctxn3	A	G	18: 57,477,113	M1V	probably null	Het
Cwf19l1	G	T	19: 44,112,986	H478N	probably damaging	Het
Dpysl3	A	T	18: 43,438,127	D27E	probably damaging	Het
Dsg1b	A	G	18: 20,399,332	T478A	probably damaging	Het
Dvl2	G	A	11: 70,009,150	R590Q	possibly damaging	Het
Elovl7	C	A	13: 108,279,708	Q211K	probably damaging	Het
Fech	A	G	18: 64,467,732	I233T	probably damaging	Het
Fsip2	A	T	2: 82,975,882	Q848H	probably benign	Het
Gna15	A	G	10: 81,523,918	C13R	probably damaging	Het
Gstt4	A	T	10: 75,821,238	S65T	probably benign	Het
Heatr1	T	C	13: 12,423,743	V1353A	probably damaging	Het
Hip1r	A	T	5: 124,001,853	K1006N	possibly damaging	Het
Hspg2	T	A	4: 137,538,390	V1804E	probably damaging	Het
Ifi206	T	C	1: 173,473,683	T810A	unknown	Het
Ighv1-69	T	C	12: 115,623,367	T49A	probably benign	Het
Il4i1	A	T	7: 44,839,609	D266V	probably damaging	Het
Itga3	A	T	11: 95,055,694		probably null	Het
Itpr1	A	G	6: 108,401,350	N1279S	probably damaging	Het
Madd	T	C	2: 91,162,584	T997A	probably benign	Het
Mal	C	T	2: 127,640,388	V32I	probably benign	Het
Map9	T	A	3: 82,376,985	S289T	probably benign	Het
Nelfcd	T	A	2: 174,425,130	I395N	probably benign	Het
Neurog2	T	A	3: 127,634,045	V106E	probably damaging	Het
Nup160	T	A	2: 90,708,142	N761K	probably damaging	Het
Oasl1	G	A	5: 114,935,995	R321Q	probably damaging	Het
Olfr1076	T	C	2: 86,508,756	V99A	probably benign	Het
Olfr1412	A	G	1: 92,588,873	D181G	probably benign	Het
Olfr437	A	T	6: 43,167,576	I173L	probably benign	Het
Olfr837	A	G	9: 19,137,875	N294S	probably damaging	Het
Oosp2	T	C	19: 11,651,630	T36A		Het
Otx2	T	G	14: 48,662,495	S16R	probably damaging	Het
Phactr2	A	G	10: 13,474,164	S39P	unknown	Het
Piwil2	A	G	14: 70,389,900	Y797H	possibly damaging	Het
Plxna4	T	G	6: 32,206,121	Y949S	probably benign	Het
Prss35	A	G	9: 86,755,708	Y177C	probably damaging	Het
Rbm19	T	C	5: 120,197,921	I934T	probably damaging	Het
Rictor	T	G	15: 6,786,529	V1094G	probably benign	Het
Riok1	A	G	13: 38,058,700	T467A	possibly damaging	Het
Slc15a4	G	A	5: 127,617,336	R12W	possibly damaging	Het
Slc44a5	T	A	3: 154,250,951	I280K	probably damaging	Het
Slc9c1	T	C	16: 45,547,663	L205S	probably benign	Het
Slco2a1	A	G	9: 103,084,940	R604G	possibly damaging	Het
Slmap	T	A	14: 26,462,341	T296S	probably damaging	Het
Snrk	T	C	9: 122,166,574	V473A	probably benign	Het
Spg20	A	G	3: 55,126,534	T394A	probably benign	Het
Stil	T	C	4: 115,024,181	S641P	probably damaging	Het
Syne1	A	G	10: 5,318,461	V2076A	probably benign	Het
Tcirg1	G	A	19: 3,902,360	A336V	probably null	Het
Tespa1	T	C	10: 130,362,416	S436P	probably benign	Het
Thumpd3	G	T	6: 113,047,661	R72L	possibly damaging	Het
Tmem70	A	C	1: 16,665,435	E43A	probably benign	Het
Vars	A	G	17: 35,012,588	D696G	possibly damaging	Het
Vwa5b2	A	T	16: 20,604,225	H991L	probably benign	Het
Zfp160	A	G	17: 21,025,484	K99E	possibly damaging	Het
Zfp759	G	A	13: 67,139,134	V250I	possibly damaging	Het
Zmym6	T	C	4: 127,122,547	V707A	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
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

Predicted Primers

PCR Primer
(F):5'- AATGAGCATCTCGCAGGTGG -3'
(R):5'- CTATGACCAGAAGCATCAGGC -3'

Sequencing Primer
(F):5'- ATCTCGCAGGTGGCCATG -3'
(R):5'- AGGCTGTGAACCTGGAGC -3'

Posted On

2022-10-06