Mutagenetix > Incidental Mutation

Incidental Mutation 'R5946:Mmp13'

472180

Institutional Source

Beutler Lab

Gene Symbol

Mmp13

Ensembl Gene

ENSMUSG00000050578

Gene Name

matrix metallopeptidase 13

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R5946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7272514-7283331 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7276580 bp (GRCm38)

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: 142,625,952	F1137S	probably damaging	Het
Actr6	G	T	10: 89,728,192	Q73K	probably benign	Het
Adamtsl3	G	A	7: 82,576,057	G358D	probably damaging	Het
Aggf1	A	G	13: 95,371,576	V94A	probably damaging	Het
Arpc3	A	G	5: 122,403,396	Y57C	probably damaging	Het
Asb2	A	G	12: 103,321,555	Y630H	probably benign	Het
Atp1a1	A	T	3: 101,589,774	N405K	probably benign	Het
C6	G	T	15: 4,808,514	D869Y	possibly damaging	Het
Cds2	A	G	2: 132,297,248	Y137C	probably damaging	Het
Ceacam12	A	T	7: 18,069,206	E179V	probably damaging	Het
Chgb	T	A	2: 132,792,596	Y153N	probably benign	Het
Cit	T	A	5: 115,997,534	L1831Q	probably damaging	Het
Cpne8	C	A	15: 90,488,988	*578L	probably null	Het
Cspg5	A	G	9: 110,251,083	T440A	probably damaging	Het
Dnah7a	A	C	1: 53,559,308	V1393G	probably damaging	Het
Dnajb8	A	G	6: 88,222,593	D37G	probably benign	Het
Dst	A	G	1: 34,174,192	I1063M	probably benign	Het
Efs	T	G	14: 54,919,494		probably null	Het
Gpatch1	A	G	7: 35,291,832	S596P	probably damaging	Het
Hbs1l	C	A	10: 21,341,756	H190Q	probably benign	Het
Ighm	A	G	12: 113,422,709	V7A	unknown	Het
Ivd	A	T	2: 118,876,889	I295F	possibly damaging	Het
Kcnq5	A	C	1: 21,505,707	S258A	probably damaging	Het
Mad1l1	G	T	5: 140,261,579	P331Q	probably damaging	Het
Mcf2l	G	T	8: 13,013,922	G1045C	probably damaging	Het
Mcoln1	T	A	8: 3,508,701	I233N	probably damaging	Het
Muc5ac	G	A	7: 141,817,907	C2615Y	possibly damaging	Het
Myh7b	T	C	2: 155,621,395	F516L	probably damaging	Het
Obsl1	A	T	1: 75,491,207	S1347R	probably damaging	Het
Ogn	A	G	13: 49,618,285	N207S	probably benign	Het
Olfr132	C	A	17: 38,130,707	A162S	probably benign	Het
Olfr874	T	A	9: 37,747,034	L300Q	probably damaging	Het
Pcdha2	G	T	18: 36,941,106	V597L	probably damaging	Het
Pcnt	T	A	10: 76,382,063	Y2126F	possibly damaging	Het
Pgbd5	A	T	8: 124,374,317	M400K	possibly damaging	Het
Pklr	A	T	3: 89,136,196	E5V	probably benign	Het
Pkp4	T	A	2: 59,305,067	D94E	probably benign	Het
Ppan	C	T	9: 20,889,673	Q111*	probably null	Het
Prkcb	A	G	7: 122,544,703	N330S	probably benign	Het
Prl4a1	T	A	13: 28,018,516	W25R	probably damaging	Het
Rars2	T	A	4: 34,656,855	H501Q	possibly damaging	Het
Ryr2	T	C	13: 11,726,953	D2114G	probably damaging	Het
Serinc2	G	T	4: 130,255,521	T351K	possibly damaging	Het
Slc22a12	A	G	19: 6,537,851	F358L	probably damaging	Het
Sorcs2	A	C	5: 36,029,083	V905G	probably damaging	Het
Tekt3	G	C	11: 63,094,747	A460P	probably damaging	Het
Tm4sf1	T	G	3: 57,292,868	I109L	possibly damaging	Het
Tmc5	A	T	7: 118,670,725	E899D	probably damaging	Het
Tmem268	C	T	4: 63,568,509	P90S	probably damaging	Het
Trim38	A	G	13: 23,782,734	M55V	probably benign	Het
Trip10	T	G	17: 57,250,963	V50G	probably damaging	Het
Usp25	T	A	16: 77,115,054	C990*	probably null	Het
Uts2	A	G	4: 150,999,049	D39G	probably benign	Het
Vezf1	T	A	11: 88,073,734	C49*	probably null	Het
Wee2	T	A	6: 40,463,212	N431K	probably null	Het
Yeats2	C	A	16: 20,207,763	Y796*	probably null	Het
Zfp592	G	A	7: 81,037,897	G890D	possibly damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het

Other mutations in Mmp13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01976:Mmp13	APN	9	7278974	splice site	probably benign
IGL02027:Mmp13	APN	9	7272955	missense	probably damaging	1.00
IGL02320:Mmp13	APN	9	7278941	missense	probably benign	0.00
R0143:Mmp13	UTSW	9	7276558	missense	probably damaging	1.00
R0417:Mmp13	UTSW	9	7276602	missense	probably benign
R0505:Mmp13	UTSW	9	7272929	missense	probably damaging	1.00
R0624:Mmp13	UTSW	9	7280221	missense	possibly damaging	0.69
R0632:Mmp13	UTSW	9	7274032	missense	probably damaging	1.00
R0632:Mmp13	UTSW	9	7282077	missense	possibly damaging	0.74
R1102:Mmp13	UTSW	9	7272952	missense	possibly damaging	0.55
R1387:Mmp13	UTSW	9	7282033	missense	possibly damaging	0.60
R1478:Mmp13	UTSW	9	7272892	missense	probably damaging	1.00
R1669:Mmp13	UTSW	9	7277926	missense	probably benign	0.01
R4647:Mmp13	UTSW	9	7274233	missense	probably damaging	1.00
R4648:Mmp13	UTSW	9	7274233	missense	probably damaging	1.00
R4668:Mmp13	UTSW	9	7272580	missense	possibly damaging	0.54
R4827:Mmp13	UTSW	9	7278880	missense	possibly damaging	0.68
R4898:Mmp13	UTSW	9	7272953	missense	probably benign	0.10
R5780:Mmp13	UTSW	9	7278952	missense	possibly damaging	0.76
R5996:Mmp13	UTSW	9	7274269	missense	probably damaging	1.00
R6102:Mmp13	UTSW	9	7276688	missense	probably benign	0.07
R6693:Mmp13	UTSW	9	7280245	missense	probably benign	0.00
R6789:Mmp13	UTSW	9	7272781	missense	probably benign	0.00
R7310:Mmp13	UTSW	9	7280880	missense	possibly damaging	0.60
R7728:Mmp13	UTSW	9	7274004	missense	probably benign
R8041:Mmp13	UTSW	9	7280865	missense	probably benign	0.13
R8314:Mmp13	UTSW	9	7272931	missense	probably damaging	1.00
R8324:Mmp13	UTSW	9	7276636	missense	possibly damaging	0.75
R8684:Mmp13	UTSW	9	7282089	missense	possibly damaging	0.51
R8755:Mmp13	UTSW	9	7277996	missense	possibly damaging	0.51
R9365:Mmp13	UTSW	9	7277921	missense	probably benign	0.02
T0722:Mmp13	UTSW	9	7280857	missense	possibly damaging	0.67
Z1177:Mmp13	UTSW	9	7277953	missense	probably damaging	1.00
Z1177:Mmp13	UTSW	9	7280200	missense	possibly damaging	0.89

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