Mutagenetix > Incidental Mutation

Incidental Mutation 'R4827:Mmp13'

372509

Institutional Source

Beutler Lab

Gene Symbol

Mmp13

Ensembl Gene

ENSMUSG00000050578

Gene Name

matrix metallopeptidase 13

Synonyms

interstitial collagenase, Collagenase-3, collagenase-1, MMP-13, Mmp1, Clg

MMRRC Submission

042443-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R4827 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7272514-7283331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7278880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 324 (T324A)

Ref Sequence

ENSEMBL: ENSMUSP00000015394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015394]

AlphaFold

P33435

PDB Structure

STRUCTURE OF RECOMBINANT MOUSE COLLAGENASE-3 (MMP-13) [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015394
AA Change: T324A

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000015394
Gene: ENSMUSG00000050578
AA Change: T324A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:PG_binding_1	33	92	5.3e-13	PFAM
ZnMc	110	269	3.76e-59	SMART
HX	291	333	9.62e-8	SMART
HX	335	378	9.91e-10	SMART
HX	383	430	2.52e-11	SMART
HX	432	472	1.81e-3	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (67/70)

MGI Phenotype

FUNCTION: This gene encodes a member of the matrix metalloproteinase family that plays a role in wound healing, skeletal development and bone remodeling. The encoded protein is activated by the removal of an N-terminal activation peptide to generate a zinc-dependent endopeptidase enzyme that can cleave various native collagens, including types I - IV, X and XIV. Mice lacking the encoded protein display profound defects in growth plate cartilage as well as a delay in the endochondral bone development. Lack of the encoded protein also impairs the wound healing process due to reduced keratinocyte migration and vascular density at the wound site. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Jun 2015]
PHENOTYPE: Homozygous null mice display increased width of hypertrophic chondrocyte zone and increased trabecular bone. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	G	12: 88,413,489 (GRCm39)	R274G	probably benign	Het
Agbl5	T	G	5: 31,053,158 (GRCm39)	S83R	probably damaging	Het
Ankib1	A	G	5: 3,751,907 (GRCm39)	I711T	probably damaging	Het
Arnt	T	A	3: 95,397,224 (GRCm39)		probably null	Het
Atad2	C	G	15: 57,971,744 (GRCm39)	V702L	probably benign	Het
B4galnt4	A	G	7: 140,648,392 (GRCm39)	E636G	probably benign	Het
Btbd2	A	G	10: 80,482,223 (GRCm39)	I244T	probably damaging	Het
Cenpc1	A	T	5: 86,182,290 (GRCm39)	N531K	possibly damaging	Het
Ces3b	T	A	8: 105,813,527 (GRCm39)	M266K	probably benign	Het
Cfap54	A	T	10: 92,737,937 (GRCm39)		probably benign	Het
Coq8a	A	G	1: 179,994,903 (GRCm39)	V590A	possibly damaging	Het
Drc7	A	G	8: 95,798,267 (GRCm39)	Y504C	probably damaging	Het
Elovl4	T	C	9: 83,688,091 (GRCm39)	M1V	probably null	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Fads2	A	G	19: 10,059,958 (GRCm39)	F239L	probably benign	Het
Gcc2	A	T	10: 58,121,953 (GRCm39)		probably null	Het
Ggact	C	T	14: 123,128,987 (GRCm39)	R76H	probably benign	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm3739	A	T	14: 18,506,218 (GRCm39)	F13I	probably damaging	Het
Gng2	T	C	14: 19,925,898 (GRCm39)	K65E	possibly damaging	Het
Gnmt	A	G	17: 47,038,245 (GRCm39)	Y94H	possibly damaging	Het
Gzme	C	A	14: 56,356,755 (GRCm39)	R69M	probably null	Het
Hdc	G	A	2: 126,436,233 (GRCm39)	P546L	probably benign	Het
Ibtk	C	A	9: 85,610,607 (GRCm39)	V326F	probably benign	Het
Inpp5b	G	T	4: 124,637,643 (GRCm39)		probably benign	Het
Kcnh7	A	T	2: 62,546,564 (GRCm39)	C1006S	probably benign	Het
Kcnk18	A	T	19: 59,208,362 (GRCm39)	N66I	probably damaging	Het
Lpar6	T	A	14: 73,476,190 (GRCm39)	N50K	probably damaging	Het
Lrba	G	T	3: 86,267,457 (GRCm39)	D1716Y	possibly damaging	Het
Ltf	T	A	9: 110,856,445 (GRCm39)		probably benign	Het
Map3k6	A	G	4: 132,976,160 (GRCm39)	T794A	possibly damaging	Het
Mcm8	A	G	2: 132,665,174 (GRCm39)	T217A	probably damaging	Het
Meaf6	A	G	4: 124,996,713 (GRCm39)	E141G	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Msl2	T	G	9: 100,979,350 (GRCm39)	F575V	probably benign	Het
Ncoa4-ps	C	T	12: 119,225,529 (GRCm39)		noncoding transcript	Het
Nlrp2	A	T	7: 5,331,950 (GRCm39)	W149R	possibly damaging	Het
Ntng1	C	A	3: 110,042,727 (GRCm39)	C33F	probably damaging	Het
Nxn	A	G	11: 76,152,418 (GRCm39)	Y359H	probably benign	Het
Olfml2a	A	C	2: 38,850,033 (GRCm39)	D583A	probably damaging	Het
Or12j5	A	C	7: 140,083,583 (GRCm39)	L263R	probably damaging	Het
Or1e32	A	T	11: 73,705,547 (GRCm39)	Y120*	probably null	Het
Or2t48	A	G	11: 58,420,422 (GRCm39)	I130T	probably damaging	Het
Or4b1b	A	T	2: 90,112,547 (GRCm39)	I124N	probably damaging	Het
Or51ac3	A	T	7: 103,213,752 (GRCm39)	S245T	probably damaging	Het
Pcdha4	T	C	18: 37,086,251 (GRCm39)	S145P	probably damaging	Het
Pcsk2	A	T	2: 143,643,099 (GRCm39)	K459*	probably null	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Plch2	A	G	4: 155,075,570 (GRCm39)	F653S	probably damaging	Het
Plpp3	T	C	4: 105,088,167 (GRCm39)	I296T	probably benign	Het
Polr2b	A	G	5: 77,490,398 (GRCm39)	E846G	probably benign	Het
Ptpro	A	T	6: 137,419,708 (GRCm39)	N157Y	probably damaging	Het
Ralgapa1	A	G	12: 55,723,222 (GRCm39)	L1815P	probably damaging	Het
Sap18	A	G	14: 58,036,020 (GRCm39)	N69D	probably damaging	Het
Sncg	C	A	14: 34,095,284 (GRCm39)	V74F	probably damaging	Het
Spata31e2	T	C	1: 26,724,923 (GRCm39)	K86E	possibly damaging	Het
Spmip4	A	C	6: 50,572,836 (GRCm39)	S26A	possibly damaging	Het
Tmem186	A	T	16: 8,453,681 (GRCm39)	Y193*	probably null	Het
Trrap	A	G	5: 144,737,758 (GRCm39)	S1045G	probably benign	Het
Tti2	T	G	8: 31,640,998 (GRCm39)	S41A	probably benign	Het
Unc13c	T	C	9: 73,838,568 (GRCm39)	E761G	probably damaging	Het
Vamp2	T	A	11: 68,980,637 (GRCm39)	D68E	probably benign	Het
Vmn1r200	A	T	13: 22,579,265 (GRCm39)	M14L	probably benign	Het
Vps35	T	A	8: 86,000,186 (GRCm39)	D480V	possibly damaging	Het
Zfp462	T	C	4: 55,012,213 (GRCm39)	L1393P	probably damaging	Het
Zfp512	G	A	5: 31,630,158 (GRCm39)	M274I	probably benign	Het
Znfx1	C	G	2: 166,886,151 (GRCm39)	G803A	possibly damaging	Het

Other mutations in Mmp13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01976:Mmp13	APN	9	7,278,974 (GRCm39)	splice site	probably benign
IGL02027:Mmp13	APN	9	7,272,955 (GRCm39)	missense	probably damaging	1.00
IGL02320:Mmp13	APN	9	7,278,941 (GRCm39)	missense	probably benign	0.00
R0143:Mmp13	UTSW	9	7,276,558 (GRCm39)	missense	probably damaging	1.00
R0417:Mmp13	UTSW	9	7,276,602 (GRCm39)	missense	probably benign
R0505:Mmp13	UTSW	9	7,272,929 (GRCm39)	missense	probably damaging	1.00
R0624:Mmp13	UTSW	9	7,280,221 (GRCm39)	missense	possibly damaging	0.69
R0632:Mmp13	UTSW	9	7,282,077 (GRCm39)	missense	possibly damaging	0.74
R0632:Mmp13	UTSW	9	7,274,032 (GRCm39)	missense	probably damaging	1.00
R1102:Mmp13	UTSW	9	7,272,952 (GRCm39)	missense	possibly damaging	0.55
R1387:Mmp13	UTSW	9	7,282,033 (GRCm39)	missense	possibly damaging	0.60
R1478:Mmp13	UTSW	9	7,272,892 (GRCm39)	missense	probably damaging	1.00
R1669:Mmp13	UTSW	9	7,277,926 (GRCm39)	missense	probably benign	0.01
R4647:Mmp13	UTSW	9	7,274,233 (GRCm39)	missense	probably damaging	1.00
R4648:Mmp13	UTSW	9	7,274,233 (GRCm39)	missense	probably damaging	1.00
R4668:Mmp13	UTSW	9	7,272,580 (GRCm39)	missense	possibly damaging	0.54
R4898:Mmp13	UTSW	9	7,272,953 (GRCm39)	missense	probably benign	0.10
R5780:Mmp13	UTSW	9	7,278,952 (GRCm39)	missense	possibly damaging	0.76
R5946:Mmp13	UTSW	9	7,276,580 (GRCm39)	missense	probably damaging	1.00
R5996:Mmp13	UTSW	9	7,274,269 (GRCm39)	missense	probably damaging	1.00
R6102:Mmp13	UTSW	9	7,276,688 (GRCm39)	missense	probably benign	0.07
R6693:Mmp13	UTSW	9	7,280,245 (GRCm39)	missense	probably benign	0.00
R6789:Mmp13	UTSW	9	7,272,781 (GRCm39)	missense	probably benign	0.00
R7310:Mmp13	UTSW	9	7,280,880 (GRCm39)	missense	possibly damaging	0.60
R7728:Mmp13	UTSW	9	7,274,004 (GRCm39)	missense	probably benign
R8041:Mmp13	UTSW	9	7,280,865 (GRCm39)	missense	probably benign	0.13
R8314:Mmp13	UTSW	9	7,272,931 (GRCm39)	missense	probably damaging	1.00
R8324:Mmp13	UTSW	9	7,276,636 (GRCm39)	missense	possibly damaging	0.75
R8684:Mmp13	UTSW	9	7,282,089 (GRCm39)	missense	possibly damaging	0.51
R8755:Mmp13	UTSW	9	7,277,996 (GRCm39)	missense	possibly damaging	0.51
R9365:Mmp13	UTSW	9	7,277,921 (GRCm39)	missense	probably benign	0.02
T0722:Mmp13	UTSW	9	7,280,857 (GRCm39)	missense	possibly damaging	0.67
Z1177:Mmp13	UTSW	9	7,280,200 (GRCm39)	missense	possibly damaging	0.89
Z1177:Mmp13	UTSW	9	7,277,953 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTACAAATGGCTTACTCTTG -3'
(R):5'- TTTGGTAGGACAGGCACAGG -3'

Sequencing Primer
(F):5'- ACTCTTGTCCCTTTTATGAGTTGTAG -3'
(R):5'- TGGTAATGGTCTTGTTACTAAGTCTC -3'

Posted On

2016-03-01