Mutagenetix > Incidental Mutation

Incidental Mutation 'R7489:Mmp8'

580417

Institutional Source

Beutler Lab

Gene Symbol

Mmp8

Ensembl Gene

ENSMUSG00000005800

Gene Name

matrix metallopeptidase 8

Synonyms

Collagenase-2

MMRRC Submission

045563-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7558457-7568486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7561388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 131 (T131S)

Ref Sequence

ENSEMBL: ENSMUSP00000018765 (fasta)

Gene Model

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

AlphaFold

O70138

Predicted Effect

probably benign
Transcript: ENSMUST00000018765
AA Change: T131S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000018765
Gene: ENSMUSG00000005800
AA Change: T131S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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 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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	T	16: 88,424,122 (GRCm39)	V123D	probably damaging	Het
4930503E14Rik	A	T	14: 44,407,756 (GRCm39)	N92K	probably damaging	Het
4930519G04Rik	T	C	5: 115,017,686 (GRCm39)	S166P	unknown	Het
Abtb3	T	A	10: 85,463,079 (GRCm39)	Y615N	probably damaging	Het
Adgrb3	G	A	1: 25,586,586 (GRCm39)	T369I	probably damaging	Het
Agbl4	T	C	4: 111,383,855 (GRCm39)	S237P	probably damaging	Het
Ahi1	T	C	10: 20,839,649 (GRCm39)	C187R	probably benign	Het
Akap9	C	T	5: 4,054,933 (GRCm39)	T1626M	probably damaging	Het
Alas1	A	T	9: 106,118,833 (GRCm39)		probably null	Het
Apbb1	G	T	7: 105,216,687 (GRCm39)	T301N	probably benign	Het
Arhgap42	A	G	9: 9,006,359 (GRCm39)	V679A	probably benign	Het
Atp2a2	T	C	5: 122,605,830 (GRCm39)	D375G	probably benign	Het
Best1	A	G	19: 9,974,410 (GRCm39)	S45P	possibly damaging	Het
Bpifb4	A	C	2: 153,785,924 (GRCm39)	T21P	probably damaging	Het
Cdx2	A	T	5: 147,243,482 (GRCm39)	M104K	probably benign	Het
Ces1d	A	T	8: 93,904,759 (GRCm39)	L327Q	probably damaging	Het
Ces2e	A	G	8: 105,656,412 (GRCm39)	H214R	probably benign	Het
Chd5	G	A	4: 152,457,925 (GRCm39)	G1014D	probably damaging	Het
Cmya5	T	A	13: 93,228,346 (GRCm39)	K2247N	possibly damaging	Het
Dip2c	T	C	13: 9,583,348 (GRCm39)	V110A	probably damaging	Het
Fancd2	T	C	6: 113,541,265 (GRCm39)	S724P	probably benign	Het
Galnt1	T	A	18: 24,415,214 (GRCm39)	V485D	probably damaging	Het
Garin3	G	C	11: 46,298,268 (GRCm39)	G524A		Het
Gli2	A	G	1: 118,765,905 (GRCm39)	S749P	probably benign	Het
H2-M5	A	C	17: 37,300,363 (GRCm39)	L12V	unknown	Het
Iqcf6	C	A	9: 106,504,656 (GRCm39)	Q107K	probably benign	Het
Itfg1	C	T	8: 86,493,630 (GRCm39)	C283Y	probably damaging	Het
Jak3	A	C	8: 72,136,936 (GRCm39)	K704T	probably damaging	Het
Kl	A	T	5: 150,876,461 (GRCm39)	T94S	probably damaging	Het
Krt73	A	C	15: 101,702,294 (GRCm39)	V523G	probably benign	Het
Lap3	T	C	5: 45,657,848 (GRCm39)	F215L	probably damaging	Het
Lce1c	G	A	3: 92,587,954 (GRCm39)	C127Y	unknown	Het
Map6	C	T	7: 98,917,268 (GRCm39)	R14C	probably damaging	Het
Mcm10	T	A	2: 5,006,112 (GRCm39)	K410M	probably damaging	Het
Med23	T	A	10: 24,780,254 (GRCm39)	N967K	probably damaging	Het
Ms4a14	T	C	19: 11,279,395 (GRCm39)	I1054M	probably benign	Het
Mup14	A	G	4: 61,259,887 (GRCm39)	M1T	probably null	Het
Myzap	T	A	9: 71,468,320 (GRCm39)	T110S	probably benign	Het
Nmrk1	A	T	19: 18,619,606 (GRCm39)	K153M	probably damaging	Het
Nmrk1	G	T	19: 18,619,607 (GRCm39)	K153N	possibly damaging	Het
Or4x12-ps1	T	A	2: 89,916,704 (GRCm39)	M34L	probably benign	Het
Or6c70	A	T	10: 129,710,551 (GRCm39)	I25N	probably damaging	Het
Pcdh12	T	C	18: 38,414,842 (GRCm39)	H761R	possibly damaging	Het
Pde4d	C	A	13: 109,253,301 (GRCm39)	L43I	unknown	Het
Prrc2a	A	T	17: 35,381,330 (GRCm39)	S46R	unknown	Het
Rab19	A	G	6: 39,365,039 (GRCm39)	T100A	probably benign	Het
Rad51b	C	T	12: 79,347,359 (GRCm39)	R8*	probably null	Het
Sclt1	A	T	3: 41,584,032 (GRCm39)	L642Q	probably damaging	Het
Scyl3	T	C	1: 163,776,745 (GRCm39)	I392T	possibly damaging	Het
Sipa1l3	A	G	7: 29,066,127 (GRCm39)	W1076R	probably damaging	Het
Slc12a9	C	A	5: 137,321,082 (GRCm39)	A478S	probably damaging	Het
Slc5a9	C	A	4: 111,741,113 (GRCm39)	C511F	probably damaging	Het
Sspo	T	C	6: 48,450,647 (GRCm39)	L2612P	probably damaging	Het
Synrg	C	T	11: 83,881,651 (GRCm39)	T329I	probably benign	Het
Tdrd9	A	G	12: 112,034,071 (GRCm39)	T1338A	probably benign	Het
Tenm4	A	T	7: 96,486,521 (GRCm39)	D996V	possibly damaging	Het
Ticam2	T	A	18: 46,693,584 (GRCm39)	I168L	probably damaging	Het
Tom1l1	T	C	11: 90,547,185 (GRCm39)	I374M	probably benign	Het
Trip10	A	T	17: 57,557,966 (GRCm39)	K51I	probably damaging	Het
Trpc6	T	A	9: 8,656,545 (GRCm39)	D735E	probably benign	Het
Trpm8	T	A	1: 88,307,481 (GRCm39)	N1050K	possibly damaging	Het
Tuba8	A	T	6: 121,202,980 (GRCm39)	D431V	probably damaging	Het
Ucn2	C	T	9: 108,815,322 (GRCm39)	T28I	possibly damaging	Het
Vmn1r21	C	T	6: 57,820,877 (GRCm39)	G189D	probably damaging	Het
Vmn2r8	T	C	5: 108,945,522 (GRCm39)	N695S	possibly damaging	Het
Xirp2	A	C	2: 67,355,904 (GRCm39)	N3555T	possibly damaging	Het
Zfp119a	A	T	17: 56,173,158 (GRCm39)	H228Q	probably damaging	Het
Zfr	T	A	15: 12,153,068 (GRCm39)	H566Q	probably benign	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
R5287:Mmp8	UTSW	9	7,567,507 (GRCm39)	missense	probably benign	0.05
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
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'- TCTGTCTTCAGCCCTGAGAC -3'
(R):5'- GGAGAATTGTCACCATGGTCTG -3'

Sequencing Primer
(F):5'- TGTCTTCAGCCCTGAGACATACAC -3'
(R):5'- TGTCACCATGGTCTGAAATGAG -3'

Posted On

2019-10-07