Mutagenetix > Incidental Mutation

Incidental Mutation 'R5927:Mmp8'

459953

Institutional Source

Beutler Lab

Gene Symbol

Mmp8

Ensembl Gene

ENSMUSG00000005800

Gene Name

matrix metallopeptidase 8

Synonyms

Collagenase-2

MMRRC Submission

044122-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7558457-7568486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7563203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 255 (N255K)

Ref Sequence

ENSEMBL: ENSMUSP00000018765 (fasta)

Gene Model

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

AlphaFold

O70138

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018765
AA Change: N255K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018765
Gene: ENSMUSG00000005800
AA Change: N255K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (73/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	A	3: 153,644,745 (GRCm39)	I60F	probably damaging	Het
Ankrd26	A	G	6: 118,484,597 (GRCm39)		probably null	Het
Arhgdib	A	T	6: 136,901,136 (GRCm39)	W198R	probably damaging	Het
Atad5	T	A	11: 80,018,111 (GRCm39)	I1354N	probably damaging	Het
Ccdc146	T	A	5: 21,513,619 (GRCm39)	K500*	probably null	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Cmip	A	T	8: 117,984,048 (GRCm39)	T70S	possibly damaging	Het
Col22a1	G	T	15: 71,878,815 (GRCm39)	A114E	probably damaging	Het
Cpeb1	T	C	7: 81,011,428 (GRCm39)	D171G	possibly damaging	Het
Crebzf	C	T	7: 90,093,531 (GRCm39)		probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
D630036H23Rik	C	A	12: 36,431,671 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,335,864 (GRCm39)	T2277S	probably benign	Het
Dysf	T	A	6: 84,184,194 (GRCm39)	F2083Y	probably damaging	Het
Elavl4	T	A	4: 110,147,440 (GRCm39)		probably benign	Het
Elp3	A	G	14: 65,819,626 (GRCm39)	Y111H	probably damaging	Het
Eps8l2	A	T	7: 140,936,259 (GRCm39)	Q243L	probably benign	Het
Eri2	C	A	7: 119,385,291 (GRCm39)	L403F	probably damaging	Het
Fgfr4	T	A	13: 55,314,700 (GRCm39)	N614K	probably damaging	Het
Gm5108	T	G	5: 68,134,214 (GRCm39)	I74S	unknown	Het
Gpn1	T	C	5: 31,658,235 (GRCm39)	F130L	probably damaging	Het
Gpr176	T	A	2: 118,203,521 (GRCm39)	I50F	probably benign	Het
Gramd1a	A	G	7: 30,839,246 (GRCm39)	S221P	probably benign	Het
Hivep3	A	G	4: 119,954,305 (GRCm39)	T874A	possibly damaging	Het
Igkv12-40	A	G	6: 69,856,383 (GRCm39)		noncoding transcript	Het
Itgb2	C	A	10: 77,381,868 (GRCm39)	P57T	probably damaging	Het
Kcmf1	T	A	6: 72,819,988 (GRCm39)	D286V	possibly damaging	Het
Kcnt1	T	A	2: 25,799,388 (GRCm39)		probably benign	Het
Kif15	A	G	9: 122,846,326 (GRCm39)	S76G	probably benign	Het
Kpna3	C	T	14: 61,622,096 (GRCm39)	V223I	probably damaging	Het
Krt80	A	G	15: 101,262,089 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,948,808 (GRCm39)	Y857C	probably damaging	Het
Lcorl	G	T	5: 45,882,766 (GRCm39)		probably benign	Het
Map4k3	A	G	17: 80,921,348 (GRCm39)	V528A	probably benign	Het
Npat	A	T	9: 53,473,521 (GRCm39)	K438*	probably null	Het
Or4a73	T	A	2: 89,421,444 (GRCm39)	N5I	possibly damaging	Het
P4htm	T	C	9: 108,474,582 (GRCm39)	Y61C	probably damaging	Het
Pgap6	T	C	17: 26,340,972 (GRCm39)	Y692H	probably benign	Het
Polr3h	G	T	15: 81,801,480 (GRCm39)		probably null	Het
Prlr	C	T	15: 10,322,532 (GRCm39)	T176I	probably benign	Het
Psme4	T	G	11: 30,754,294 (GRCm39)	F184V	possibly damaging	Het
Ptgfrn	A	T	3: 100,967,968 (GRCm39)	F542I	possibly damaging	Het
Rock1	T	C	18: 10,116,792 (GRCm39)	E448G	probably damaging	Het
Rpf1	A	T	3: 146,225,218 (GRCm39)		probably null	Het
Sectm1b	T	C	11: 120,946,500 (GRCm39)	I132V	probably benign	Het
Sestd1	T	A	2: 77,017,503 (GRCm39)	H688L	probably benign	Het
Sidt2	T	C	9: 45,855,752 (GRCm39)	Y530C	probably damaging	Het
Sin3a	A	T	9: 57,018,395 (GRCm39)	K938M	probably damaging	Het
Sin3b	C	A	8: 73,476,506 (GRCm39)	R647S	probably benign	Het
Slc16a14	T	C	1: 84,889,988 (GRCm39)	H439R	possibly damaging	Het
Stc1	T	C	14: 69,269,822 (GRCm39)	V134A	probably benign	Het
Stk11ip	G	A	1: 75,501,335 (GRCm39)	V24I	possibly damaging	Het
Tbx6	G	A	7: 126,384,025 (GRCm39)	A359T	possibly damaging	Het
Thra	G	A	11: 98,654,514 (GRCm39)	V295I	possibly damaging	Het
Tnr	T	C	1: 159,740,336 (GRCm39)	M1170T	probably damaging	Het
Tpcn2	T	A	7: 144,832,521 (GRCm39)	I112F	probably damaging	Het
Trdv2-2	T	C	14: 54,198,998 (GRCm39)	L96P	probably damaging	Het
Trim24	T	A	6: 37,935,504 (GRCm39)	W832R	probably damaging	Het
Usp4	T	G	9: 108,268,959 (GRCm39)	S891A	probably benign	Het
Vmn1r88	A	T	7: 12,912,440 (GRCm39)	R265S	probably benign	Het
Vmn2r118	A	G	17: 55,931,494 (GRCm39)	L60S	probably benign	Het
Wdr74	T	C	19: 8,717,197 (GRCm39)	C220R	possibly damaging	Het
Xpo1	A	T	11: 23,218,653 (GRCm39)		probably benign	Het
Xpo1	A	T	11: 23,218,656 (GRCm39)		probably benign	Het
Zfp850	C	A	7: 27,689,620 (GRCm39)	G196V	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
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'- GGTGGAGCCAATTAGGTCATTCAC -3'
(R):5'- AGCAAAATCATATTAGAGGCTCAGC -3'

Sequencing Primer
(F):5'- ATTCACCATCTTTTCTTGCATTTCAG -3'
(R):5'- CAGCCTATCTTTTGCTAACACTATAG -3'

Posted On

2017-02-28