Mutagenetix > Incidental Mutation

Incidental Mutation 'R5946:Mmp13'

472180

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R5946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7272514-7283331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7276580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 225 (L225P)

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

probably damaging
Transcript: ENSMUST00000015394
AA Change: L225P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015394
Gene: ENSMUSG00000050578
AA Change: L225P

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,571,678 (GRCm39)	F1137S	probably damaging	Het
Actr6	G	T	10: 89,564,054 (GRCm39)	Q73K	probably benign	Het
Adamtsl3	G	A	7: 82,225,265 (GRCm39)	G358D	probably damaging	Het
Aggf1	A	G	13: 95,508,084 (GRCm39)	V94A	probably damaging	Het
Arpc3	A	G	5: 122,541,459 (GRCm39)	Y57C	probably damaging	Het
Asb2	A	G	12: 103,287,814 (GRCm39)	Y630H	probably benign	Het
Atp1a1	A	T	3: 101,497,090 (GRCm39)	N405K	probably benign	Het
C6	G	T	15: 4,837,996 (GRCm39)	D869Y	possibly damaging	Het
Cds2	A	G	2: 132,139,168 (GRCm39)	Y137C	probably damaging	Het
Ceacam12	A	T	7: 17,803,131 (GRCm39)	E179V	probably damaging	Het
Chgb	T	A	2: 132,634,516 (GRCm39)	Y153N	probably benign	Het
Cit	T	A	5: 116,135,593 (GRCm39)	L1831Q	probably damaging	Het
Cpne8	C	A	15: 90,373,191 (GRCm39)	*578L	probably null	Het
Cspg5	A	G	9: 110,080,151 (GRCm39)	T440A	probably damaging	Het
Dnah7a	A	C	1: 53,598,467 (GRCm39)	V1393G	probably damaging	Het
Dnajb8	A	G	6: 88,199,575 (GRCm39)	D37G	probably benign	Het
Dst	A	G	1: 34,213,273 (GRCm39)	I1063M	probably benign	Het
Efs	T	G	14: 55,156,951 (GRCm39)		probably null	Het
Gpatch1	A	G	7: 34,991,257 (GRCm39)	S596P	probably damaging	Het
Hbs1l	C	A	10: 21,217,655 (GRCm39)	H190Q	probably benign	Het
Ighm	A	G	12: 113,386,329 (GRCm39)	V7A	unknown	Het
Ivd	A	T	2: 118,707,370 (GRCm39)	I295F	possibly damaging	Het
Kcnq5	A	C	1: 21,575,931 (GRCm39)	S258A	probably damaging	Het
Mad1l1	G	T	5: 140,247,334 (GRCm39)	P331Q	probably damaging	Het
Mcf2l	G	T	8: 13,063,922 (GRCm39)	G1045C	probably damaging	Het
Mcoln1	T	A	8: 3,558,701 (GRCm39)	I233N	probably damaging	Het
Muc5ac	G	A	7: 141,371,644 (GRCm39)	C2615Y	possibly damaging	Het
Myh7b	T	C	2: 155,463,315 (GRCm39)	F516L	probably damaging	Het
Obsl1	A	T	1: 75,467,851 (GRCm39)	S1347R	probably damaging	Het
Ogn	A	G	13: 49,771,761 (GRCm39)	N207S	probably benign	Het
Or2h15	C	A	17: 38,441,598 (GRCm39)	A162S	probably benign	Het
Or8b12	T	A	9: 37,658,330 (GRCm39)	L300Q	probably damaging	Het
Pcdha2	G	T	18: 37,074,159 (GRCm39)	V597L	probably damaging	Het
Pcnt	T	A	10: 76,217,897 (GRCm39)	Y2126F	possibly damaging	Het
Pgbd5	A	T	8: 125,101,056 (GRCm39)	M400K	possibly damaging	Het
Pklr	A	T	3: 89,043,503 (GRCm39)	E5V	probably benign	Het
Pkp4	T	A	2: 59,135,411 (GRCm39)	D94E	probably benign	Het
Ppan	C	T	9: 20,800,969 (GRCm39)	Q111*	probably null	Het
Prkcb	A	G	7: 122,143,926 (GRCm39)	N330S	probably benign	Het
Prl4a1	T	A	13: 28,202,499 (GRCm39)	W25R	probably damaging	Het
Rars2	T	A	4: 34,656,855 (GRCm39)	H501Q	possibly damaging	Het
Ryr2	T	C	13: 11,741,839 (GRCm39)	D2114G	probably damaging	Het
Serinc2	G	T	4: 130,149,314 (GRCm39)	T351K	possibly damaging	Het
Slc22a12	A	G	19: 6,587,881 (GRCm39)	F358L	probably damaging	Het
Sorcs2	A	C	5: 36,186,427 (GRCm39)	V905G	probably damaging	Het
Tekt3	G	C	11: 62,985,573 (GRCm39)	A460P	probably damaging	Het
Tm4sf1	T	G	3: 57,200,289 (GRCm39)	I109L	possibly damaging	Het
Tmc5	A	T	7: 118,269,948 (GRCm39)	E899D	probably damaging	Het
Tmem268	C	T	4: 63,486,746 (GRCm39)	P90S	probably damaging	Het
Trim38	A	G	13: 23,966,717 (GRCm39)	M55V	probably benign	Het
Trip10	T	G	17: 57,557,963 (GRCm39)	V50G	probably damaging	Het
Usp25	T	A	16: 76,911,942 (GRCm39)	C990*	probably null	Het
Uts2	A	G	4: 151,083,506 (GRCm39)	D39G	probably benign	Het
Vezf1	T	A	11: 87,964,560 (GRCm39)	C49*	probably null	Het
Wee2	T	A	6: 40,440,146 (GRCm39)	N431K	probably null	Het
Yeats2	C	A	16: 20,026,513 (GRCm39)	Y796*	probably null	Het
Zfp592	G	A	7: 80,687,645 (GRCm39)	G890D	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably 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
R4827:Mmp13	UTSW	9	7,278,880 (GRCm39)	missense	possibly damaging	0.68
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
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'- GGTAACTGATTCTTTATGGAGAACG -3'
(R):5'- TGCCAATGTAACTGTGTTCATC -3'

Sequencing Primer
(F):5'- CGAATCAACACTTTGACTCTTCC -3'
(R):5'- ACTGTGTTCATCAGTTTTGCAAC -3'

Posted On

2017-03-31