Mutagenetix > Incidental Mutation

Incidental Mutation 'R9486:Mmp3'

716587

Institutional Source

Beutler Lab

Gene Symbol

Mmp3

Ensembl Gene

ENSMUSG00000043613

Gene Name

matrix metallopeptidase 3

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R9486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7445822-7455975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7451256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 331 (I331V)

Ref Sequence

ENSEMBL: ENSMUSP00000034497 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034497
AA Change: I331V

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034497
Gene: ENSMUSG00000043613
AA Change: I331V

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,546,942 (GRCm39)	F396L	probably damaging	Het
Abca13	T	C	11: 9,240,621 (GRCm39)	I828T	possibly damaging	Het
Ace3	A	T	11: 105,896,219 (GRCm39)	T722S	probably benign	Het
Acot2	A	G	12: 84,039,426 (GRCm39)	T312A	probably benign	Het
Adra2a	A	G	19: 54,035,963 (GRCm39)	I440V	probably damaging	Het
Arhgap22	T	A	14: 33,073,303 (GRCm39)	M4K	probably benign	Het
Atp8b3	C	T	10: 80,366,821 (GRCm39)	C259Y	probably damaging	Het
Bcl2	T	A	1: 106,471,109 (GRCm39)	Y199F	probably benign	Het
Brca1	A	T	11: 101,414,520 (GRCm39)	C1205S	probably benign	Het
Col7a1	T	C	9: 108,811,396 (GRCm39)	V2743A	unknown	Het
Crybg1	A	G	10: 43,880,145 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,808 (GRCm39)	H502L	probably benign	Het
Cyp2c40	A	T	19: 39,796,050 (GRCm39)	Y109*	probably null	Het
Cyp4a29	T	C	4: 115,106,916 (GRCm39)	M191T	probably damaging	Het
Dcaf1	A	G	9: 106,735,916 (GRCm39)	R955G	possibly damaging	Het
Dcaf4	G	T	12: 83,582,726 (GRCm39)	A274S	probably damaging	Het
Dlx1	A	G	2: 71,362,828 (GRCm39)	H245R	probably damaging	Het
Dnah14	A	G	1: 181,508,494 (GRCm39)	N1891D	possibly damaging	Het
Dock10	A	T	1: 80,479,452 (GRCm39)	V2167D	unknown	Het
Epyc	A	G	10: 97,511,697 (GRCm39)	Q230R	probably benign	Het
Etnk1	G	A	6: 143,130,310 (GRCm39)	R143H	probably damaging	Het
Fhip2b	T	C	14: 70,826,479 (GRCm39)	D203G	probably benign	Het
Fmo2	T	C	1: 162,708,292 (GRCm39)	E281G	probably damaging	Het
Gm2042	T	A	12: 87,925,963 (GRCm39)	Y304N	possibly damaging	Het
Hecw2	T	C	1: 53,852,466 (GRCm39)	D1551G	probably damaging	Het
Hgd	A	T	16: 37,413,811 (GRCm39)	D91V	probably benign	Het
Hspa12a	A	G	19: 58,797,891 (GRCm39)	F276L	probably benign	Het
Ifitm10	C	T	7: 141,909,812 (GRCm39)	V95M	probably damaging	Het
Ints3	G	A	3: 90,313,579 (GRCm39)	R350*	probably null	Het
Kdm4c	T	A	4: 74,252,966 (GRCm39)	I511K	probably benign	Het
Kif27	A	G	13: 58,492,348 (GRCm39)	S264P	probably damaging	Het
L1td1	A	G	4: 98,624,899 (GRCm39)	T365A	probably benign	Het
Ltbp2	T	A	12: 84,878,648 (GRCm39)	T304S	possibly damaging	Het
Mamdc4	T	A	2: 25,455,164 (GRCm39)	Y962F	probably benign	Het
Map3k4	C	T	17: 12,489,860 (GRCm39)	A524T	probably damaging	Het
Mfsd8	C	T	3: 40,789,627 (GRCm39)	R140H	probably damaging	Het
Mpdz	T	A	4: 81,254,043 (GRCm39)	I1030F	probably damaging	Het
Mtx1	A	T	3: 89,120,163 (GRCm39)	C62S		Het
Muc20	A	T	16: 32,615,248 (GRCm39)	V43E	possibly damaging	Het
Naa25	A	G	5: 121,577,958 (GRCm39)	E955G	probably damaging	Het
Nelfcd	A	G	2: 174,268,635 (GRCm39)	Y562C	probably damaging	Het
Nsd2	T	A	5: 34,018,493 (GRCm39)	M509K	probably benign	Het
Obscn	T	C	11: 58,918,272 (GRCm39)	T207A		Het
Or1ad1	T	A	11: 50,875,691 (GRCm39)	H54Q	possibly damaging	Het
Or4a39	C	T	2: 89,236,959 (GRCm39)	V155M	possibly damaging	Het
Or4k5	T	A	14: 50,385,672 (GRCm39)	I220L	probably benign	Het
Osbpl11	A	T	16: 33,006,283 (GRCm39)	N37I	possibly damaging	Het
Pcdh9	A	G	14: 93,797,956 (GRCm39)	S1032P	possibly damaging	Het
Pde6b	T	A	5: 108,551,241 (GRCm39)	I175N	probably damaging	Het
Pfkl	T	A	10: 77,824,184 (GRCm39)	M735L	probably benign	Het
Pkp4	T	C	2: 59,138,722 (GRCm39)	V324A	probably benign	Het
Ptprb	T	A	10: 116,155,494 (GRCm39)	C462*	probably null	Het
Rasal3	T	C	17: 32,617,910 (GRCm39)	N221S	probably benign	Het
Reep1	A	T	6: 71,684,969 (GRCm39)	I6F	probably benign	Het
Rhobtb1	T	A	10: 69,106,621 (GRCm39)	F457L	probably damaging	Het
Ryr1	T	C	7: 28,777,965 (GRCm39)	N2184S	probably benign	Het
Scn11a	T	G	9: 119,624,774 (GRCm39)	H516P	possibly damaging	Het
Sipa1l1	T	C	12: 82,404,139 (GRCm39)		probably null	Het
Slc17a7	A	G	7: 44,821,606 (GRCm39)	N381S	possibly damaging	Het
Slc38a3	C	T	9: 107,536,322 (GRCm39)	V25M	probably benign	Het
Spag1	T	G	15: 36,181,954 (GRCm39)	D37E	probably damaging	Het
Spib	G	T	7: 44,178,815 (GRCm39)	D114E	possibly damaging	Het
Tpx2	A	T	2: 152,726,933 (GRCm39)	Y400F	probably damaging	Het
Trhde	A	G	10: 114,532,014 (GRCm39)	I362T	possibly damaging	Het
Usp17ld	C	T	7: 102,899,381 (GRCm39)	G517E	probably benign	Het
Vmn1r22	A	T	6: 57,877,404 (GRCm39)	M191K	probably damaging	Het
Wdr6	G	A	9: 108,453,182 (GRCm39)	R234C	probably damaging	Het
Zdhhc22	C	T	12: 87,030,398 (GRCm39)	M183I	probably benign	Het
Zfp1007	C	A	5: 109,824,062 (GRCm39)	G463*	probably null	Het
Zfp949	C	A	9: 88,452,182 (GRCm39)	T584N	probably benign	Het

Other mutations in Mmp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Mmp3	APN	9	7,445,894 (GRCm39)	utr 5 prime	probably benign
IGL01738:Mmp3	APN	9	7,446,946 (GRCm39)	missense	possibly damaging	0.94
IGL02154:Mmp3	APN	9	7,453,662 (GRCm39)	missense	probably benign	0.19
IGL02212:Mmp3	APN	9	7,450,165 (GRCm39)	missense	probably damaging	1.00
IGL02568:Mmp3	APN	9	7,446,001 (GRCm39)	missense	probably benign	0.02
IGL03366:Mmp3	APN	9	7,450,149 (GRCm39)	missense	probably benign	0.00
R0047:Mmp3	UTSW	9	7,451,910 (GRCm39)	splice site	probably benign
R0047:Mmp3	UTSW	9	7,451,910 (GRCm39)	splice site	probably benign
R0356:Mmp3	UTSW	9	7,451,768 (GRCm39)	missense	probably benign	0.03
R0390:Mmp3	UTSW	9	7,451,320 (GRCm39)	missense	probably benign	0.29
R0401:Mmp3	UTSW	9	7,449,790 (GRCm39)	missense	probably damaging	1.00
R0466:Mmp3	UTSW	9	7,450,165 (GRCm39)	missense	probably damaging	1.00
R0549:Mmp3	UTSW	9	7,455,638 (GRCm39)	missense	probably benign	0.08
R0903:Mmp3	UTSW	9	7,445,994 (GRCm39)	missense	probably benign	0.00
R1438:Mmp3	UTSW	9	7,453,705 (GRCm39)	missense	probably benign	0.22
R1498:Mmp3	UTSW	9	7,446,967 (GRCm39)	missense	possibly damaging	0.95
R1515:Mmp3	UTSW	9	7,451,232 (GRCm39)	missense	probably benign	0.01
R1629:Mmp3	UTSW	9	7,447,641 (GRCm39)	missense	probably benign	0.00
R1844:Mmp3	UTSW	9	7,453,662 (GRCm39)	missense	probably benign	0.19
R1858:Mmp3	UTSW	9	7,451,799 (GRCm39)	missense	probably benign	0.08
R2099:Mmp3	UTSW	9	7,453,672 (GRCm39)	missense	probably benign	0.01
R2497:Mmp3	UTSW	9	7,450,131 (GRCm39)	missense	probably benign	0.00
R2571:Mmp3	UTSW	9	7,451,844 (GRCm39)	missense	possibly damaging	0.95
R4659:Mmp3	UTSW	9	7,453,673 (GRCm39)	missense	probably benign	0.00
R4687:Mmp3	UTSW	9	7,451,223 (GRCm39)	missense	probably benign	0.03
R4717:Mmp3	UTSW	9	7,449,881 (GRCm39)	missense	possibly damaging	0.94
R4930:Mmp3	UTSW	9	7,447,640 (GRCm39)	missense	probably benign	0.02
R4932:Mmp3	UTSW	9	7,446,994 (GRCm39)	missense	probably benign	0.00
R5020:Mmp3	UTSW	9	7,445,984 (GRCm39)	missense	probably benign
R5384:Mmp3	UTSW	9	7,451,759 (GRCm39)	nonsense	probably null
R5385:Mmp3	UTSW	9	7,451,759 (GRCm39)	nonsense	probably null
R5408:Mmp3	UTSW	9	7,449,904 (GRCm39)	missense	probably damaging	0.98
R6268:Mmp3	UTSW	9	7,447,622 (GRCm39)	missense	possibly damaging	0.78
R7317:Mmp3	UTSW	9	7,446,937 (GRCm39)	missense	probably damaging	1.00
R7467:Mmp3	UTSW	9	7,450,125 (GRCm39)	missense	probably benign	0.07
R7467:Mmp3	UTSW	9	7,447,621 (GRCm39)	missense	possibly damaging	0.93
R8101:Mmp3	UTSW	9	7,446,985 (GRCm39)	missense	probably benign	0.19
R9098:Mmp3	UTSW	9	7,446,936 (GRCm39)	missense	probably damaging	1.00
X0022:Mmp3	UTSW	9	7,449,857 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- ATTTTGCACATCCAACCCCGAG -3'
(R):5'- GGACCATGTCTCTCCTCAAG -3'

Sequencing Primer
(F):5'- TCCAACCCCGAGGATAAGAAAATG -3'
(R):5'- CAGAGGCTTGTCTCACTAA -3'

Posted On

2022-07-18