Mutagenetix > Incidental Mutation

Incidental Mutation 'R6341:Mmp15'

514395

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

MMRRC Submission

044495-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6341 (G1)

Quality Score

182.009

Status

Not validated

Chromosome

Chromosomal Location

95352268-95375080 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 95365463 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

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

AlphaFold

O54732

Predicted Effect

probably null
Transcript: ENSMUST00000034243

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 31,105,546 (GRCm38)	D658G	possibly damaging	Het
Amz2	A	G	11: 109,428,827 (GRCm38)	H13R	probably benign	Het
Ankrd27	G	T	7: 35,627,403 (GRCm38)		probably null	Het
Atp8a1	T	C	5: 67,682,927 (GRCm38)	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,658,739 (GRCm38)	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,648,114 (GRCm38)	S105P	probably damaging	Het
Cdh26	T	A	2: 178,471,573 (GRCm38)		probably null	Het
Cxcl10	T	C	5: 92,348,213 (GRCm38)	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,712,489 (GRCm38)	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,204,251 (GRCm38)	D594E	probably benign	Het
Ddx5	T	C	11: 106,785,542 (GRCm38)		probably null	Het
Ddx58	T	A	4: 40,222,199 (GRCm38)		probably null	Het
Duox1	T	C	2: 122,337,721 (GRCm38)	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,946,284 (GRCm38)		probably null	Het
Ecel1	A	G	1: 87,150,471 (GRCm38)		probably null	Het
Efcab6	T	G	15: 83,935,938 (GRCm38)	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,777,998 (GRCm38)	L464P	possibly damaging	Het
Fam129c	C	T	8: 71,600,077 (GRCm38)	P65L	probably damaging	Het
Fam234a	T	A	17: 26,213,693 (GRCm38)	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,088,145 (GRCm38)	V694A	probably damaging	Het
Gli2	T	C	1: 118,836,224 (GRCm38)	D1399G	probably damaging	Het
Gm10110	T	C	14: 89,896,708 (GRCm38)		noncoding transcript	Het
Hdac3	A	G	18: 37,944,164 (GRCm38)	L219P	probably damaging	Het
Hlcs	A	G	16: 94,231,163 (GRCm38)	F52S	probably damaging	Het
Ints7	C	A	1: 191,613,127 (GRCm38)	T643K	probably damaging	Het
Ireb2	A	G	9: 54,908,780 (GRCm38)	I878M	probably damaging	Het
Itga3	A	T	11: 95,055,851 (GRCm38)		probably null	Het
Lrfn5	T	A	12: 61,843,582 (GRCm38)	Y552*	probably null	Het
Mafb	T	C	2: 160,366,451 (GRCm38)	T76A	probably damaging	Het
Man2b1	A	T	8: 85,095,399 (GRCm38)	S748C	probably damaging	Het
Mmp17	A	T	5: 129,601,955 (GRCm38)	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,801,492 (GRCm38)	D1005V	probably damaging	Het
Myh3	T	C	11: 67,082,996 (GRCm38)	F165S	probably benign	Het
Nacc1	T	C	8: 84,674,791 (GRCm38)	D419G	probably benign	Het
Neb	G	A	2: 52,209,474 (GRCm38)	S4545L	probably damaging	Het
Npas2	T	C	1: 39,300,687 (GRCm38)	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,369,863 (GRCm38)	K427N	probably benign	Het
Olfr1448	T	C	19: 12,919,479 (GRCm38)	T277A	probably benign	Het
Pde4dip	T	A	3: 97,694,911 (GRCm38)	Q2283L	probably benign	Het
Phax	C	T	18: 56,573,101 (GRCm38)	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,102,829 (GRCm38)	K79*	probably null	Het
Pkd1	T	A	17: 24,580,227 (GRCm38)	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,541,148 (GRCm38)	R427C	probably damaging	Het
Ptprj	A	T	2: 90,458,349 (GRCm38)	F757L	probably benign	Het
Rad1	A	G	15: 10,492,821 (GRCm38)	D208G	probably damaging	Het
Rangrf	T	A	11: 68,972,712 (GRCm38)	N156I	probably benign	Het
Rasl11b	T	C	5: 74,198,376 (GRCm38)	S181P	probably damaging	Het
Rlf	G	A	4: 121,149,360 (GRCm38)	Q808*	probably null	Het
Rogdi	G	T	16: 5,013,377 (GRCm38)		probably null	Het
Sec24a	A	T	11: 51,717,776 (GRCm38)	V573D	probably damaging	Het
Sorbs2	A	G	8: 45,770,578 (GRCm38)	T200A	probably damaging	Het
Srgap2	C	T	1: 131,291,629 (GRCm38)	R259H	probably benign	Het
Ssc5d	T	A	7: 4,936,665 (GRCm38)	V700E	probably benign	Het
Stt3a	A	T	9: 36,751,296 (GRCm38)	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,597,259 (GRCm38)	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,490,048 (GRCm38)	R421H	probably damaging	Het
Top3b	T	C	16: 16,879,071 (GRCm38)	M62T	probably damaging	Het
Trhr	T	G	15: 44,229,298 (GRCm38)	Y310*	probably null	Het
Urb2	G	T	8: 124,031,125 (GRCm38)	E1190D	probably damaging	Het
Usp34	A	G	11: 23,381,353 (GRCm38)	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,929,066 (GRCm38)	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,472,010 (GRCm38)	M290K	probably benign	Het
Wdr75	T	C	1: 45,802,131 (GRCm38)		probably null	Het
Wnk1	A	T	6: 119,948,585 (GRCm38)	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,670,778 (GRCm38)	T191A	probably benign	Het
Zc3h15	A	G	2: 83,661,223 (GRCm38)	E265G	probably benign	Het
Zcchc9	A	G	13: 91,800,697 (GRCm38)	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,854,137 (GRCm38)	H247R	probably damaging	Het
Zfp433	A	G	10: 81,720,123 (GRCm38)	E152G	probably damaging	Het
Zfp770	A	T	2: 114,196,759 (GRCm38)	S276R	probably benign	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
R5502:Mmp15	UTSW	8	95,368,184 (GRCm38)	missense	possibly 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
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'- AACTGAATGTCCTTTGAATTGGGAG -3'
(R):5'- AAGGCTTCAGGCAACCATAC -3'

Sequencing Primer
(F):5'- TTCTGAGCAGTGACTGAGCAAAC -3'
(R):5'- GGCTTCAGGCAACCATACTAAAC -3'

Posted On

2018-04-27