Mutagenetix > Incidental Mutation

Incidental Mutation 'R9695:Mmp15'

729221

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

MT2-MMP, Membrane type 2-MMP

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96078924-96100921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96097414 bp (GRCm39)

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: 57,170,739 (GRCm39)	T1A		Het
Adgrl1	G	A	8: 84,665,060 (GRCm39)	R1249Q	probably damaging	Het
Apeh	G	A	9: 107,963,483 (GRCm39)	R580C	probably damaging	Het
Armc12	T	A	17: 28,749,993 (GRCm39)	C46S	probably benign	Het
Avpr1a	C	T	10: 122,284,845 (GRCm39)	R46C	probably damaging	Het
Cbln4	C	G	2: 171,879,469 (GRCm39)	G140R	probably damaging	Het
Ccdc89	A	G	7: 90,076,552 (GRCm39)	N254S	probably benign	Het
Cd96	T	A	16: 45,919,410 (GRCm39)	I204F	probably damaging	Het
Cel	G	T	2: 28,450,961 (GRCm39)	L101I	probably damaging	Het
Crtap	A	T	9: 114,215,378 (GRCm39)	Y170*	probably null	Het
Ctxn3	A	G	18: 57,610,185 (GRCm39)	M1V	probably null	Het
Cwf19l1	G	T	19: 44,101,425 (GRCm39)	H478N	probably damaging	Het
Dpysl3	A	T	18: 43,571,192 (GRCm39)	D27E	probably damaging	Het
Dsg1b	A	G	18: 20,532,389 (GRCm39)	T478A	probably damaging	Het
Dvl2	G	A	11: 69,899,976 (GRCm39)	R590Q	possibly damaging	Het
Elovl7	C	A	13: 108,416,242 (GRCm39)	Q211K	probably damaging	Het
Fech	A	G	18: 64,600,803 (GRCm39)	I233T	probably damaging	Het
Fsip2	A	T	2: 82,806,226 (GRCm39)	Q848H	probably benign	Het
Gna15	A	G	10: 81,359,752 (GRCm39)	C13R	probably damaging	Het
Gstt4	A	T	10: 75,657,072 (GRCm39)	S65T	probably benign	Het
Heatr1	T	C	13: 12,438,624 (GRCm39)	V1353A	probably damaging	Het
Hip1r	A	T	5: 124,139,916 (GRCm39)	K1006N	possibly damaging	Het
Hspg2	T	A	4: 137,265,701 (GRCm39)	V1804E	probably damaging	Het
Ifi206	T	C	1: 173,301,249 (GRCm39)	T810A	unknown	Het
Ighv1-69	T	C	12: 115,586,987 (GRCm39)	T49A	probably benign	Het
Il4i1	A	T	7: 44,489,033 (GRCm39)	D266V	probably damaging	Het
Itga3	A	T	11: 94,946,520 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,378,311 (GRCm39)	N1279S	probably damaging	Het
Madd	T	C	2: 90,992,929 (GRCm39)	T997A	probably benign	Het
Mal	C	T	2: 127,482,308 (GRCm39)	V32I	probably benign	Het
Map9	T	A	3: 82,284,292 (GRCm39)	S289T	probably benign	Het
Nelfcd	T	A	2: 174,266,923 (GRCm39)	I395N	probably benign	Het
Neurog2	T	A	3: 127,427,694 (GRCm39)	V106E	probably damaging	Het
Nup160	T	A	2: 90,538,486 (GRCm39)	N761K	probably damaging	Het
Oasl1	G	A	5: 115,074,054 (GRCm39)	R321Q	probably damaging	Het
Oosp2	T	C	19: 11,628,994 (GRCm39)	T36A		Het
Or2a52	A	T	6: 43,144,510 (GRCm39)	I173L	probably benign	Het
Or7g22	A	G	9: 19,049,171 (GRCm39)	N294S	probably damaging	Het
Or8k30	T	C	2: 86,339,100 (GRCm39)	V99A	probably benign	Het
Or9s27	A	G	1: 92,516,595 (GRCm39)	D181G	probably benign	Het
Otx2	T	G	14: 48,899,952 (GRCm39)	S16R	probably damaging	Het
Phactr2	A	G	10: 13,349,908 (GRCm39)	S39P	unknown	Het
Piwil2	A	G	14: 70,627,349 (GRCm39)	Y797H	possibly damaging	Het
Plxna4	T	G	6: 32,183,056 (GRCm39)	Y949S	probably benign	Het
Prss35	A	G	9: 86,637,761 (GRCm39)	Y177C	probably damaging	Het
Rbm19	T	C	5: 120,335,986 (GRCm39)	I934T	probably damaging	Het
Rictor	T	G	15: 6,816,010 (GRCm39)	V1094G	probably benign	Het
Riok1	A	G	13: 38,242,676 (GRCm39)	T467A	possibly damaging	Het
Slc15a4	G	A	5: 127,694,400 (GRCm39)	R12W	possibly damaging	Het
Slc44a5	T	A	3: 153,956,588 (GRCm39)	I280K	probably damaging	Het
Slc9c1	T	C	16: 45,368,026 (GRCm39)	L205S	probably benign	Het
Slco2a1	A	G	9: 102,962,139 (GRCm39)	R604G	possibly damaging	Het
Slmap	T	A	14: 26,183,496 (GRCm39)	T296S	probably damaging	Het
Snrk	T	C	9: 121,995,640 (GRCm39)	V473A	probably benign	Het
Spart	A	G	3: 55,033,955 (GRCm39)	T394A	probably benign	Het
Stil	T	C	4: 114,881,378 (GRCm39)	S641P	probably damaging	Het
Syne1	A	G	10: 5,268,461 (GRCm39)	V2076A	probably benign	Het
Tcirg1	G	A	19: 3,952,360 (GRCm39)	A336V	probably null	Het
Tespa1	T	C	10: 130,198,285 (GRCm39)	S436P	probably benign	Het
Thumpd3	G	T	6: 113,024,622 (GRCm39)	R72L	possibly damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Vars1	A	G	17: 35,231,564 (GRCm39)	D696G	possibly damaging	Het
Vwa5b2	A	T	16: 20,422,975 (GRCm39)	H991L	probably benign	Het
Zfp160	A	G	17: 21,245,746 (GRCm39)	K99E	possibly damaging	Het
Zfp759	G	A	13: 67,287,198 (GRCm39)	V250I	possibly damaging	Het
Zmym6	T	C	4: 127,016,340 (GRCm39)	V707A	probably benign	Het

Other mutations in Mmp15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Mmp15	APN	8	96,092,959 (GRCm39)	missense	probably benign	0.31
IGL03001:Mmp15	APN	8	96,094,845 (GRCm39)	missense	probably damaging	0.97
R0147:Mmp15	UTSW	8	96,098,945 (GRCm39)	missense	probably benign	0.18
R0148:Mmp15	UTSW	8	96,098,945 (GRCm39)	missense	probably benign	0.18
R0437:Mmp15	UTSW	8	96,097,400 (GRCm39)	missense	probably benign	0.04
R0465:Mmp15	UTSW	8	96,094,626 (GRCm39)	missense	probably damaging	1.00
R0548:Mmp15	UTSW	8	96,098,979 (GRCm39)	missense	probably damaging	1.00
R0574:Mmp15	UTSW	8	96,092,029 (GRCm39)	missense	possibly damaging	0.73
R0685:Mmp15	UTSW	8	96,098,762 (GRCm39)	missense	possibly damaging	0.81
R0763:Mmp15	UTSW	8	96,094,856 (GRCm39)	missense	probably benign	0.01
R1341:Mmp15	UTSW	8	96,098,931 (GRCm39)	missense	probably benign	0.03
R1428:Mmp15	UTSW	8	96,096,190 (GRCm39)	missense	probably benign	0.34
R1840:Mmp15	UTSW	8	96,092,048 (GRCm39)	missense	probably damaging	1.00
R2061:Mmp15	UTSW	8	96,097,407 (GRCm39)	missense	possibly damaging	0.91
R2219:Mmp15	UTSW	8	96,096,801 (GRCm39)	missense	probably benign	0.38
R4760:Mmp15	UTSW	8	96,094,824 (GRCm39)	missense	possibly damaging	0.61
R4762:Mmp15	UTSW	8	96,098,958 (GRCm39)	missense	probably benign	0.00
R5233:Mmp15	UTSW	8	96,097,696 (GRCm39)	missense	probably benign	0.08
R5394:Mmp15	UTSW	8	96,093,032 (GRCm39)	missense	probably damaging	0.96
R5502:Mmp15	UTSW	8	96,094,812 (GRCm39)	missense	possibly damaging	0.96
R5543:Mmp15	UTSW	8	96,094,729 (GRCm39)	missense	possibly damaging	0.85
R6027:Mmp15	UTSW	8	96,098,804 (GRCm39)	missense	probably benign	0.00
R6341:Mmp15	UTSW	8	96,092,091 (GRCm39)	critical splice donor site	probably null
R6720:Mmp15	UTSW	8	96,091,942 (GRCm39)	missense	probably benign	0.22
R7788:Mmp15	UTSW	8	96,094,776 (GRCm39)	missense	probably damaging	1.00
R8033:Mmp15	UTSW	8	96,094,590 (GRCm39)	missense	probably benign	0.01
R8679:Mmp15	UTSW	8	96,092,982 (GRCm39)	missense	possibly damaging	0.83
R8791:Mmp15	UTSW	8	96,096,288 (GRCm39)	nonsense	probably null
R9028:Mmp15	UTSW	8	96,096,316 (GRCm39)	missense	probably benign	0.01
R9227:Mmp15	UTSW	8	96,092,959 (GRCm39)	missense	probably benign	0.06
R9230:Mmp15	UTSW	8	96,092,959 (GRCm39)	missense	probably benign	0.06
R9350:Mmp15	UTSW	8	96,093,002 (GRCm39)	missense	probably damaging	0.97
R9632:Mmp15	UTSW	8	96,098,731 (GRCm39)	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