Mutagenetix > Incidental Mutation

Incidental Mutation 'R5287:Mmp8'

424412

Institutional Source

Beutler Lab

Gene Symbol

Mmp8

Ensembl Gene

ENSMUSG00000005800

Gene Name

matrix metallopeptidase 8

Synonyms

Collagenase-2

MMRRC Submission

042871-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7558457-7568486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 7567507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 456 (A456S)

Ref Sequence

ENSEMBL: ENSMUSP00000018765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018765] [ENSMUST00000120900] [ENSMUST00000151853]

AlphaFold

O70138

Predicted Effect

probably benign
Transcript: ENSMUST00000018765
AA Change: A456S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000018765
Gene: ENSMUSG00000005800
AA Change: A456S

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:PG_binding_1	28	86	2e-13	PFAM
ZnMc	104	263	4.38e-60	SMART
HX	285	327	7.51e-10	SMART
HX	329	372	2.16e-10	SMART
HX	377	422	5.91e-17	SMART
HX	424	464	2.99e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120900

SMART Domains

Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	40	100	1e-13	PFAM
ZnMc	116	277	1.76e-50	SMART
HX	300	342	5.97e-4	SMART
HX	344	386	1.1e-7	SMART
HX	391	438	1.09e-6	SMART
HX	440	480	3.2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151853

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	40	100	1.1e-13	PFAM
ZnMc	116	303	1.81e-43	SMART
HX	326	368	5.97e-4	SMART
HX	370	412	1.1e-7	SMART
HX	417	464	1.09e-6	SMART
HX	466	506	3.2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152878

SMART Domains

Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	39	99	1.1e-13	PFAM
ZnMc	115	295	1.41e-13	SMART
HX	245	287	5.97e-4	SMART
HX	289	331	1.1e-7	SMART
HX	336	383	1.09e-6	SMART
HX	385	425	3.2e-4	SMART

Meta Mutation Damage Score

0.3007

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (56/57)

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 that degrades types I, II and III collagens. Mice lacking the encoded protein exhibit abnormalities in the inflammatory responses to various agents. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous null males, and to a lesser extent ovariectomized or tamoxifen-treated null females, show increased susceptibility to chemically-induced skin tumors, a sustained inflammatory response to carcinogens, and increased PMN burden in the alveolar space during LPS-mediated acute lung injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	C	2: 93,666,298 (GRCm39)	D463G	probably damaging	Het
Acsbg3	G	T	17: 57,183,221 (GRCm39)		probably benign	Het
Adcy8	C	T	15: 64,588,001 (GRCm39)	V929I	probably benign	Het
Anp32a	A	T	9: 62,249,275 (GRCm39)	I16F	possibly damaging	Het
Arpin	T	C	7: 79,577,997 (GRCm39)	E144G	probably damaging	Het
Asb18	T	C	1: 89,942,110 (GRCm39)	T64A	probably benign	Het
Asxl2	A	G	12: 3,546,893 (GRCm39)	N559S	probably benign	Het
Brd7	G	T	8: 89,084,169 (GRCm39)	Q148K	probably damaging	Het
Brinp1	A	G	4: 68,711,201 (GRCm39)	W336R	probably benign	Het
Btnl9	A	G	11: 49,060,434 (GRCm39)	V438A	probably benign	Het
Cat	T	C	2: 103,304,705 (GRCm39)	T107A	probably damaging	Het
Catsperg2	T	C	7: 29,397,263 (GRCm39)	Y1080C	possibly damaging	Het
Ccdc138	T	A	10: 58,411,527 (GRCm39)	F632I	possibly damaging	Het
Cd46	C	T	1: 194,744,719 (GRCm39)	V340I	possibly damaging	Het
Celf1	T	C	2: 90,839,552 (GRCm39)	S326P	possibly damaging	Het
Ces1e	T	G	8: 93,935,240 (GRCm39)	D404A	probably benign	Het
Chd3	A	T	11: 69,239,895 (GRCm39)		probably null	Het
Clhc1	A	G	11: 29,528,244 (GRCm39)		probably benign	Het
Cops8	C	T	1: 90,534,342 (GRCm39)		probably benign	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Csmd2	C	T	4: 128,380,677 (GRCm39)	R2078C	probably benign	Het
Dnm1l	A	C	16: 16,151,732 (GRCm39)	V240G	probably damaging	Het
Fezf1	C	T	6: 23,248,010 (GRCm39)	V22M	probably benign	Het
Gm6818	T	G	7: 38,099,911 (GRCm39)		noncoding transcript	Het
Hand2	C	T	8: 57,775,080 (GRCm39)	L47F	probably damaging	Het
Insyn2b	A	T	11: 34,353,058 (GRCm39)	T367S	probably benign	Het
Itga7	C	A	10: 128,779,027 (GRCm39)	R351S	probably benign	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Opn4	T	C	14: 34,314,894 (GRCm39)	T460A	probably benign	Het
Or6b2	A	T	1: 92,408,019 (GRCm39)	V108E	possibly damaging	Het
Otog	T	C	7: 45,918,753 (GRCm39)	F943S	probably damaging	Het
Pcnx1	A	T	12: 82,028,825 (GRCm39)	Y1668F	probably damaging	Het
Pheta1	A	G	5: 121,990,794 (GRCm39)	E52G	possibly damaging	Het
Phf24	A	T	4: 42,933,831 (GRCm39)		probably null	Het
Phkg2	GCTGCCGGACGAGTGGCCT	GCT	7: 127,181,929 (GRCm39)		probably null	Het
Ppargc1a	G	A	5: 51,620,167 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 75,872,405 (GRCm39)	R1355*	probably null	Het
Ptprn2	A	T	12: 117,175,482 (GRCm39)	M721L	probably damaging	Het
Sec23ip	A	G	7: 128,367,860 (GRCm39)	E624G	probably benign	Het
Sfmbt1	G	A	14: 30,538,777 (GRCm39)	V799M	probably damaging	Het
Snrnp200	T	C	2: 127,073,607 (GRCm39)	V1335A	probably benign	Het
Sp140	G	A	1: 85,538,545 (GRCm39)		probably null	Het
Spdye4c	T	C	2: 128,434,560 (GRCm39)	S46P	possibly damaging	Het
Syde1	T	C	10: 78,425,871 (GRCm39)	R99G	probably benign	Het
T2	A	T	17: 8,636,835 (GRCm39)	M57L	probably benign	Het
Tasor2	G	A	13: 3,625,744 (GRCm39)	S1402L	probably benign	Het
Tfap2e	T	C	4: 126,628,439 (GRCm39)	I172M	probably benign	Het
Tk1	A	T	11: 117,707,367 (GRCm39)	V140E	probably damaging	Het
Tln2	G	A	9: 67,149,641 (GRCm39)	T1192M	probably damaging	Het
Tmed8	C	A	12: 87,220,957 (GRCm39)	A210S	probably damaging	Het
Tnip2	A	G	5: 34,671,108 (GRCm39)	L45P	probably damaging	Het
Ttc3	T	C	16: 94,260,703 (GRCm39)	V1396A	probably benign	Het
Ttn	G	T	2: 76,562,436 (GRCm39)	S28803Y	probably damaging	Het
Wdr90	A	T	17: 26,080,441 (GRCm39)		probably benign	Het
Zfp7	G	A	15: 76,775,422 (GRCm39)	R488Q	probably damaging	Het

Other mutations in Mmp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Mmp8	APN	9	7,567,441 (GRCm39)	missense	probably benign	0.32
IGL02524:Mmp8	APN	9	7,560,506 (GRCm39)	missense	probably damaging	0.97
IGL03013:Mmp8	APN	9	7,561,690 (GRCm39)	missense	probably benign	0.00
IGL03032:Mmp8	APN	9	7,558,530 (GRCm39)	utr 5 prime	probably benign
R0310:Mmp8	UTSW	9	7,561,455 (GRCm39)	missense	probably benign	0.02
R1444:Mmp8	UTSW	9	7,567,264 (GRCm39)	missense	probably benign	0.02
R1511:Mmp8	UTSW	9	7,566,279 (GRCm39)	missense	probably damaging	0.98
R2010:Mmp8	UTSW	9	7,567,535 (GRCm39)	nonsense	probably null
R4705:Mmp8	UTSW	9	7,565,550 (GRCm39)	missense	probably benign	0.06
R5521:Mmp8	UTSW	9	7,560,644 (GRCm39)	missense	probably benign	0.16
R5589:Mmp8	UTSW	9	7,566,275 (GRCm39)	missense	probably damaging	1.00
R5927:Mmp8	UTSW	9	7,563,203 (GRCm39)	missense	possibly damaging	0.94
R7123:Mmp8	UTSW	9	7,563,196 (GRCm39)	missense	probably damaging	1.00
R7298:Mmp8	UTSW	9	7,560,449 (GRCm39)	missense	probably damaging	1.00
R7489:Mmp8	UTSW	9	7,561,388 (GRCm39)	missense	probably benign	0.04
R7554:Mmp8	UTSW	9	7,563,112 (GRCm39)	missense	probably damaging	1.00
R7625:Mmp8	UTSW	9	7,566,218 (GRCm39)	missense	probably benign	0.00
R7896:Mmp8	UTSW	9	7,564,978 (GRCm39)	missense	probably damaging	0.98
R8918:Mmp8	UTSW	9	7,561,485 (GRCm39)	missense	probably benign	0.00
R9182:Mmp8	UTSW	9	7,567,467 (GRCm39)	nonsense	probably null
R9280:Mmp8	UTSW	9	7,567,292 (GRCm39)	missense	possibly damaging	0.65
R9612:Mmp8	UTSW	9	7,560,608 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTGCAGGACTGTAAGTGG -3'
(R):5'- AAACGCTGGTTCTTCGAAGAG -3'

Sequencing Primer
(F):5'- TGGGGGAAGTTAACAGCACTG -3'
(R):5'- GGGCTGCAGAGTTAGTTACCAC -3'

Posted On

2016-08-04