Mutagenetix > Incidental Mutation

Incidental Mutation 'R5502:Mmp15'

430679

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

MMRRC Submission

043063-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5502 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

95352268-95375080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95368184 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 229 (T229S)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

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

AlphaFold

O54732

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034243
AA Change: T229S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: T229S

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

0.1028

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.0%
20x: 90.2%

Validation Efficiency

98% (84/86)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546 (GRCm38)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547 (GRCm38)	E685V	possibly damaging	Het
Abcc8	A	G	7: 46,108,838 (GRCm38)	I1268T	probably benign	Het
Accsl	C	T	2: 93,856,944 (GRCm38)		probably null	Het
Ank3	A	T	10: 69,920,461 (GRCm38)	I842F	probably benign	Het
Bbs9	T	A	9: 22,504,074 (GRCm38)	L98Q	probably damaging	Het
BC017158	C	T	7: 128,285,136 (GRCm38)	V225M	probably damaging	Het
BC024978	A	G	7: 27,197,117 (GRCm38)	D35G	possibly damaging	Het
Bin2	A	G	15: 100,645,405 (GRCm38)	V299A	probably benign	Het
Cabp4	G	A	19: 4,131,229 (GRCm38)		probably benign	Het
Ces2f	A	T	8: 104,952,523 (GRCm38)	H324L	possibly damaging	Het
Chd4	G	A	6: 125,105,276 (GRCm38)	R576Q	possibly damaging	Het
Cndp1	A	G	18: 84,632,013 (GRCm38)	V185A	possibly damaging	Het
Cntn3	A	C	6: 102,265,334 (GRCm38)	V450G	possibly damaging	Het
Col5a2	C	A	1: 45,380,126 (GRCm38)	G1265W	probably damaging	Het
Corin	G	A	5: 72,316,106 (GRCm38)	Q754*	probably null	Het
Cyp4a10	A	G	4: 115,525,505 (GRCm38)	N291S	probably benign	Het
Dap3	T	C	3: 88,925,326 (GRCm38)	Y353C	probably damaging	Het
Disp1	A	G	1: 183,087,886 (GRCm38)	V990A	probably damaging	Het
Dock9	A	T	14: 121,610,182 (GRCm38)		probably null	Het
Dopey2	T	A	16: 93,793,226 (GRCm38)	V179E	probably benign	Het
Eps15l1	A	T	8: 72,378,992 (GRCm38)		probably null	Het
Fyb2	A	T	4: 104,945,324 (GRCm38)	Q141L	probably damaging	Het
Gemin4	A	T	11: 76,213,401 (GRCm38)	L178*	probably null	Het
Gm15446	A	T	5: 109,940,498 (GRCm38)	K25*	probably null	Het
Gm17067	A	T	7: 42,708,419 (GRCm38)	C220S	probably damaging	Het
Gm4868	A	G	5: 125,847,978 (GRCm38)		noncoding transcript	Het
Golga4	GT	GTT	9: 118,559,057 (GRCm38)		probably null	Het
Gria2	T	C	3: 80,706,945 (GRCm38)	N596S	probably damaging	Het
Hoxb4	A	G	11: 96,320,231 (GRCm38)	D219G	probably damaging	Het
Htr1b	T	A	9: 81,631,801 (GRCm38)	Q251L	possibly damaging	Het
Ibtk	A	C	9: 85,720,863 (GRCm38)	S696R	probably benign	Het
Ide	C	A	19: 37,330,456 (GRCm38)	K52N	unknown	Het
Incenp	C	A	19: 9,893,364 (GRCm38)	L300F	unknown	Het
Ino80	T	C	2: 119,402,396 (GRCm38)	Y1147C	probably damaging	Het
Mme	T	A	3: 63,300,281 (GRCm38)	Y49*	probably null	Het
Mtmr4	A	T	11: 87,614,078 (GRCm38)	N1133I	probably damaging	Het
Mycbp2	C	T	14: 103,173,814 (GRCm38)	G284R	probably damaging	Het
Myo3a	T	C	2: 22,558,369 (GRCm38)	I52T	probably damaging	Het
Nat8f5	G	T	6: 85,817,653 (GRCm38)	F108L	probably damaging	Het
Nbeal1	T	A	1: 60,310,999 (GRCm38)	H2402Q	probably damaging	Het
Nexn	T	A	3: 152,238,304 (GRCm38)	E331D	probably damaging	Het
Nktr	C	T	9: 121,748,606 (GRCm38)		probably benign	Het
Oaz3	T	C	3: 94,435,085 (GRCm38)	D88G	probably damaging	Het
Olfr351	T	C	2: 36,860,270 (GRCm38)	Y26C	probably damaging	Het
Olfr723	A	G	14: 49,929,536 (GRCm38)	Y3H	probably benign	Het
Pcdhb9	A	T	18: 37,401,603 (GRCm38)	T217S	possibly damaging	Het
Pcdhga2	A	T	18: 37,670,552 (GRCm38)	D483V	possibly damaging	Het
Pde5a	G	T	3: 122,803,032 (GRCm38)	G456V	probably damaging	Het
Qser1	T	C	2: 104,786,574 (GRCm38)	T1298A	probably benign	Het
Rapgef5	T	C	12: 117,721,329 (GRCm38)	V303A	probably damaging	Het
Rbbp6	T	G	7: 122,988,724 (GRCm38)	M267R	probably damaging	Het
Rfx8	C	A	1: 39,682,953 (GRCm38)	V291F	probably damaging	Het
Rnf121	T	C	7: 102,023,348 (GRCm38)	K276R	probably null	Het
Rtca	G	T	3: 116,489,282 (GRCm38)	Y352*	probably null	Het
Sacs	T	C	14: 61,206,100 (GRCm38)	V1865A	probably damaging	Het
Sclt1	C	T	3: 41,657,275 (GRCm38)	E521K	probably benign	Het
Setd1a	T	C	7: 127,797,248 (GRCm38)		probably null	Het
Slc37a4	G	T	9: 44,402,097 (GRCm38)	V337L	probably benign	Het
Slc5a9	G	T	4: 111,893,169 (GRCm38)	S79*	probably null	Het
Snrpd2	T	C	7: 19,151,322 (GRCm38)	V36A	probably benign	Het
Spata31d1b	A	T	13: 59,716,672 (GRCm38)	N545Y	probably damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,395,551 (GRCm38)		probably benign	Het
St7	G	A	6: 17,834,674 (GRCm38)	V98I	possibly damaging	Het
Strip2	A	T	6: 29,927,624 (GRCm38)	I223F	probably benign	Het
Syn2	A	C	6: 115,278,352 (GRCm38)	N542H	possibly damaging	Het
Tbc1d2b	T	C	9: 90,227,443 (GRCm38)	T327A	probably benign	Het
Timm44	A	T	8: 4,269,992 (GRCm38)	F59I	possibly damaging	Het
Tmem41b	A	T	7: 109,982,763 (GRCm38)	C44*	probably null	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	11: 94,214,452 (GRCm38)		probably benign	Het
Tusc3	A	T	8: 39,130,793 (GRCm38)	K188*	probably null	Het
Usp39	T	A	6: 72,328,687 (GRCm38)	Q371L	probably benign	Het
Vmn2r13	G	T	5: 109,173,714 (GRCm38)	N372K	probably damaging	Het
Zfp961	T	A	8: 71,968,059 (GRCm38)	Y139N	probably damaging	Het

Other mutations in Mmp15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Mmp15	APN	8	95,366,331 (GRCm38)	missense	probably benign	0.31
IGL03001:Mmp15	APN	8	95,368,217 (GRCm38)	missense	probably damaging	0.97
R0147:Mmp15	UTSW	8	95,372,317 (GRCm38)	missense	probably benign	0.18
R0148:Mmp15	UTSW	8	95,372,317 (GRCm38)	missense	probably benign	0.18
R0437:Mmp15	UTSW	8	95,370,772 (GRCm38)	missense	probably benign	0.04
R0465:Mmp15	UTSW	8	95,367,998 (GRCm38)	missense	probably damaging	1.00
R0548:Mmp15	UTSW	8	95,372,351 (GRCm38)	missense	probably damaging	1.00
R0574:Mmp15	UTSW	8	95,365,401 (GRCm38)	missense	possibly damaging	0.73
R0685:Mmp15	UTSW	8	95,372,134 (GRCm38)	missense	possibly damaging	0.81
R0763:Mmp15	UTSW	8	95,368,228 (GRCm38)	missense	probably benign	0.01
R1341:Mmp15	UTSW	8	95,372,303 (GRCm38)	missense	probably benign	0.03
R1428:Mmp15	UTSW	8	95,369,562 (GRCm38)	missense	probably benign	0.34
R1840:Mmp15	UTSW	8	95,365,420 (GRCm38)	missense	probably damaging	1.00
R2061:Mmp15	UTSW	8	95,370,779 (GRCm38)	missense	possibly damaging	0.91
R2219:Mmp15	UTSW	8	95,370,173 (GRCm38)	missense	probably benign	0.38
R4760:Mmp15	UTSW	8	95,368,196 (GRCm38)	missense	possibly damaging	0.61
R4762:Mmp15	UTSW	8	95,372,330 (GRCm38)	missense	probably benign	0.00
R5233:Mmp15	UTSW	8	95,371,068 (GRCm38)	missense	probably benign	0.08
R5394:Mmp15	UTSW	8	95,366,404 (GRCm38)	missense	probably damaging	0.96
R5543:Mmp15	UTSW	8	95,368,101 (GRCm38)	missense	possibly damaging	0.85
R6027:Mmp15	UTSW	8	95,372,176 (GRCm38)	missense	probably benign	0.00
R6341:Mmp15	UTSW	8	95,365,463 (GRCm38)	critical splice donor site	probably null
R6720:Mmp15	UTSW	8	95,365,314 (GRCm38)	missense	probably benign	0.22
R7788:Mmp15	UTSW	8	95,368,148 (GRCm38)	missense	probably damaging	1.00
R8033:Mmp15	UTSW	8	95,367,962 (GRCm38)	missense	probably benign	0.01
R8679:Mmp15	UTSW	8	95,366,354 (GRCm38)	missense	possibly damaging	0.83
R8791:Mmp15	UTSW	8	95,369,660 (GRCm38)	nonsense	probably null
R9028:Mmp15	UTSW	8	95,369,688 (GRCm38)	missense	probably benign	0.01
R9227:Mmp15	UTSW	8	95,366,331 (GRCm38)	missense	probably benign	0.06
R9230:Mmp15	UTSW	8	95,366,331 (GRCm38)	missense	probably benign	0.06
R9350:Mmp15	UTSW	8	95,366,374 (GRCm38)	missense	probably damaging	0.97
R9632:Mmp15	UTSW	8	95,372,103 (GRCm38)	critical splice acceptor site	probably null
R9695:Mmp15	UTSW	8	95,370,786 (GRCm38)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- TGGGCTGGTACAACTCCATG -3'
(R):5'- CAGAGTCATGAATAGGGGACATTC -3'

Sequencing Primer
(F):5'- AGCAGGTCACACCATTGGTC -3'
(R):5'- GGGGACATTCTCTCCTCCTGAG -3'

Posted On

2016-10-05