Mutagenetix > Incidental Mutations

Incidental Mutation 'R1629:Mmp3'

172681

Institutional Source

Beutler Lab

Gene Symbol

Mmp3

Ensembl Gene

ENSMUSG00000043613

Gene Name

matrix metallopeptidase 3

Synonyms

Stmy1, Str1, stromelysin 1, SLN-1, stromelysin-1, STR-1, progelatinase, SLN1

MMRRC Submission

039666-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R1629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7445822-7455975 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 7447641 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 209 (V209F)

Ref Sequence

ENSEMBL: ENSMUSP00000034497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034497]

Predicted Effect

probably benign
Transcript: ENSMUST00000034497
AA Change: V209F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034497
Gene: ENSMUSG00000043613
AA Change: V209F

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:PG_binding_1	29	89	1.7e-12	PFAM
ZnMc	107	267	6.24e-65	SMART
HX	298	340	4.56e-9	SMART
HX	342	385	2.87e-6	SMART
HX	390	437	4.73e-16	SMART
HX	439	479	3.3e-6	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

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 protein is activated by the removal of an N-temrinal activation peptide to generate a zinc-dependent endopeptidase with a broad range of substrates such as proteoglycans, laminin, fibronectin, elastin, and collagens. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disrutptions in this gene display abnormalities of the immune system as well as minor structural abnormalities in the neuromuscular junction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	C	18: 58,954,619	I574L	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
BC005624	T	C	2: 30,974,008	E191G	probably damaging	Het
Cbx2	A	G	11: 119,028,980	D457G	probably damaging	Het
Ccdc110	A	G	8: 45,942,127	K352E	probably benign	Het
Cdk14	A	T	5: 5,103,807	H183Q	probably benign	Het
Cfap58	A	G	19: 47,941,339	T80A	probably benign	Het
Cftr	C	T	6: 18,226,106	T351I	probably damaging	Het
Col27a1	A	G	4: 63,329,863		probably benign	Het
Cp	T	A	3: 19,966,450		probably null	Het
Cpne8	A	T	15: 90,571,972	V196E	probably benign	Het
Dmxl1	T	G	18: 49,859,286		probably null	Het
Dnm2	T	A	9: 21,504,458	L642Q	probably damaging	Het
Dock2	G	T	11: 34,262,480		probably null	Het
Dock9	A	G	14: 121,543,574	F2091L	possibly damaging	Het
Eaf2	A	G	16: 36,824,701	V53A	probably damaging	Het
Fam208b	T	C	13: 3,574,121	H1943R	possibly damaging	Het
Fbl	G	T	7: 28,174,787		probably benign	Het
Fbn2	T	C	18: 58,026,538	D2373G	probably damaging	Het
Gbp2b	A	G	3: 142,610,974	Y462C	possibly damaging	Het
Il1rl2	T	A	1: 40,356,860	F348I	probably benign	Het
Khdc1a	T	A	1: 21,350,897	I102N	possibly damaging	Het
Klhl11	T	C	11: 100,464,186	T270A	probably benign	Het
Lama1	T	C	17: 67,805,428	S2288P	probably benign	Het
Lrfn4	T	C	19: 4,613,495	E337G	possibly damaging	Het
Macf1	C	A	4: 123,508,415	E549*	probably null	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myh9	G	A	15: 77,764,401	R1725W	probably damaging	Het
Nbea	A	T	3: 56,002,891	D1294E	possibly damaging	Het
Nrcam	G	A	12: 44,563,986	A496T	probably benign	Het
Nufip2	A	G	11: 77,693,008	T583A	probably benign	Het
Olfr1033	A	G	2: 86,041,422	T36A	probably damaging	Het
Ppig	C	A	2: 69,735,873	T128K	probably damaging	Het
Ppp2r2a	A	T	14: 67,019,759	C341S	possibly damaging	Het
Ptpre	A	T	7: 135,669,799	D374V	probably damaging	Het
Ranbp3l	A	C	15: 9,064,988	Q485P	probably damaging	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Slc1a7	A	G	4: 108,008,143	Y276C	probably damaging	Het
Smarcad1	A	G	6: 65,067,107	D221G	probably benign	Het
Smn1	C	A	13: 100,127,896	T45N	probably damaging	Het
Son	T	C	16: 91,657,622	S1086P	probably damaging	Het
Ssmem1	T	A	6: 30,512,492	Y45N	possibly damaging	Het
Tmem184c	A	C	8: 77,602,922	F170V	possibly damaging	Het
Tmem184c	A	T	8: 77,606,162		probably null	Het
Vmn1r59	C	T	7: 5,454,467	C98Y	probably damaging	Het
Vmn2r23	T	A	6: 123,713,427	S421T	probably benign	Het
Vmn2r98	T	C	17: 19,067,383	S493P	possibly damaging	Het

Other mutations in Mmp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Mmp3	APN	9	7445894	utr 5 prime	probably benign
IGL01738:Mmp3	APN	9	7446946	missense	possibly damaging	0.94
IGL02154:Mmp3	APN	9	7453662	missense	probably benign	0.19
IGL02212:Mmp3	APN	9	7450165	missense	probably damaging	1.00
IGL02568:Mmp3	APN	9	7446001	missense	probably benign	0.02
IGL03366:Mmp3	APN	9	7450149	missense	probably benign	0.00
R0047:Mmp3	UTSW	9	7451910	splice site	probably benign
R0047:Mmp3	UTSW	9	7451910	splice site	probably benign
R0356:Mmp3	UTSW	9	7451768	missense	probably benign	0.03
R0390:Mmp3	UTSW	9	7451320	missense	probably benign	0.29
R0401:Mmp3	UTSW	9	7449790	missense	probably damaging	1.00
R0466:Mmp3	UTSW	9	7450165	missense	probably damaging	1.00
R0549:Mmp3	UTSW	9	7455638	missense	probably benign	0.08
R0903:Mmp3	UTSW	9	7445994	missense	probably benign	0.00
R1438:Mmp3	UTSW	9	7453705	missense	probably benign	0.22
R1498:Mmp3	UTSW	9	7446967	missense	possibly damaging	0.95
R1515:Mmp3	UTSW	9	7451232	missense	probably benign	0.01
R1844:Mmp3	UTSW	9	7453662	missense	probably benign	0.19
R1858:Mmp3	UTSW	9	7451799	missense	probably benign	0.08
R2099:Mmp3	UTSW	9	7453672	missense	probably benign	0.01
R2497:Mmp3	UTSW	9	7450131	missense	probably benign	0.00
R2571:Mmp3	UTSW	9	7451844	missense	possibly damaging	0.95
R4659:Mmp3	UTSW	9	7453673	missense	probably benign	0.00
R4687:Mmp3	UTSW	9	7451223	missense	probably benign	0.03
R4717:Mmp3	UTSW	9	7449881	missense	possibly damaging	0.94
R4930:Mmp3	UTSW	9	7447640	missense	probably benign	0.02
R4932:Mmp3	UTSW	9	7446994	missense	probably benign	0.00
R5020:Mmp3	UTSW	9	7445984	missense	probably benign
R5384:Mmp3	UTSW	9	7451759	nonsense	probably null
R5385:Mmp3	UTSW	9	7451759	nonsense	probably null
R5408:Mmp3	UTSW	9	7449904	missense	probably damaging	0.98
R6268:Mmp3	UTSW	9	7447622	missense	possibly damaging	0.78
R7317:Mmp3	UTSW	9	7446937	missense	probably damaging	1.00
R7467:Mmp3	UTSW	9	7447621	missense	possibly damaging	0.93
R7467:Mmp3	UTSW	9	7450125	missense	probably benign	0.07
X0022:Mmp3	UTSW	9	7449857	missense	possibly damaging	0.55

Predicted Primers

Posted On

2014-04-24