Mutagenetix > Incidental Mutation

Incidental Mutation 'R1515:Mmp3'

168228

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

039562-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7445822-7455975 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7451232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 323 (T323A)

Ref Sequence

ENSEMBL: ENSMUSP00000034497 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034497
AA Change: T323A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000034497
Gene: ENSMUSG00000043613
AA Change: T323A

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: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,637,158	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,116,202	V23L	probably benign	Het
Atmin	T	A	8: 116,954,840	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,333,974	V225I	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC024139	A	G	15: 76,124,326	V350A	possibly damaging	Het
Birc6	G	T	17: 74,528,636	E29*	probably null	Het
Bnc2	T	C	4: 84,414,326	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,257,503		probably null	Het
Cd320	G	T	17: 33,847,639	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,326,150	S542P	probably damaging	Het
Crocc	T	C	4: 141,019,737	T1587A	probably benign	Het
Defb41	T	C	1: 18,260,593		probably null	Het
Dmtf1	A	G	5: 9,140,384		probably null	Het
Dnhd1	A	G	7: 105,704,148	N2836S	probably benign	Het
Dpp8	G	A	9: 65,078,748	S840N	probably benign	Het
Dsc2	A	G	18: 20,034,701	F111L	probably damaging	Het
Dsc2	T	A	18: 20,045,565	I261F	probably benign	Het
Ece1	T	C	4: 137,951,508	V509A	probably benign	Het
Ecm2	T	C	13: 49,518,332	M103T	possibly damaging	Het
Emsy	T	C	7: 98,590,856	H1064R	probably damaging	Het
Engase	T	C	11: 118,487,140	V252A	possibly damaging	Het
F13b	A	G	1: 139,510,965	Y369C	probably damaging	Het
Flii	T	C	11: 60,721,606		probably null	Het
Fzd10	T	A	5: 128,602,559	F448I	probably damaging	Het
Gpr35	T	G	1: 92,983,048	F161V	probably damaging	Het
Gprin2	T	C	14: 34,195,273	D180G	possibly damaging	Het
Grik3	A	G	4: 125,670,728	N501S	probably benign	Het
Hells	A	G	19: 38,967,765	K802E	probably damaging	Het
Il1r1	T	A	1: 40,293,349	C96*	probably null	Het
Kcnk16	T	A	14: 20,265,277	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,402,681	S652P	probably benign	Het
Lamc3	A	G	2: 31,940,751	D1500G	probably damaging	Het
Macf1	A	G	4: 123,378,480	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,915,780	F198I	probably benign	Het
N4bp2	A	G	5: 65,790,498	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,425,356	H190Q	probably benign	Het
Olfr1474	T	C	19: 13,471,680	S237P	probably damaging	Het
Olfr512	T	C	7: 108,713,941	V184A	possibly damaging	Het
Olfr790	T	C	10: 129,501,591	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380	G414D	probably benign	Het
Pkd1	G	A	17: 24,594,853	R4097H	probably benign	Het
Pnkd	T	A	1: 74,349,809	L213Q	probably null	Het
Ppfibp1	A	G	6: 147,027,432	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,643,258	D148G	probably damaging	Het
Ptprt	A	T	2: 162,238,034	S282T	probably damaging	Het
Sgsm3	T	C	15: 81,010,256	V536A	probably benign	Het
Slc22a23	T	A	13: 34,203,964	Q383L	probably benign	Het
Snx29	T	C	16: 11,399,837		probably null	Het
Tmem229b-ps	T	A	10: 53,475,446		noncoding transcript	Het
Tmod4	A	T	3: 95,128,679	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,605,659	M375T	probably benign	Het
Txndc11	A	G	16: 11,075,062	S935P	probably damaging	Het
Umod	T	C	7: 119,465,497	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,610,643	Y290H	probably benign	Het
Vps26b	A	G	9: 27,012,745	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,020,201		probably null	Het
Zfc3h1	T	A	10: 115,416,742	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,036,040		probably benign	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
R1629:Mmp3	UTSW	9	7447641	missense	probably benign	0.00
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
R8101:Mmp3	UTSW	9	7446985	missense	probably benign	0.19
R9098:Mmp3	UTSW	9	7446936	missense	probably damaging	1.00
R9486:Mmp3	UTSW	9	7451256	missense	possibly damaging	0.50
X0022:Mmp3	UTSW	9	7449857	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AGCCCAGAATGGCCTGGAAATTG -3'
(R):5'- AGAGGCTTGTCTCACTAAGTTAAAGCG -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- TGTTGGATGGAAGAGATGGC -3'

Posted On

2014-04-13