Mutagenetix > Incidental Mutations

Incidental Mutation 'R0417:Mmp13'

40406

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

MMRRC Submission

038619-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R0417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7272514-7283331 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7276602 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 232 (D232E)

Ref Sequence

ENSEMBL: ENSMUSP00000015394 (fasta)

Gene Model

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

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000015394
AA Change: D232E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015394
Gene: ENSMUSG00000050578
AA Change: D232E

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700027J19Rik	A	G	7: 4,151,483	L102P	probably damaging	Het
1700030K09Rik	A	G	8: 72,445,400	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,186,944	Y112H	probably damaging	Het
A430078G23Rik	T	C	8: 3,388,957		probably benign	Het
Acot2	T	C	12: 83,990,613	Y234H	probably benign	Het
Alox12e	C	T	11: 70,321,865	V53I	probably benign	Het
Ankrd50	T	C	3: 38,456,361	H619R	probably damaging	Het
Arfgef3	A	T	10: 18,603,511	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,033	S82G	possibly damaging	Het
Bicra	C	A	7: 15,972,322	R1398L	probably damaging	Het
Boc	T	C	16: 44,520,234	T118A	probably benign	Het
Btnl9	A	G	11: 49,175,595	Y381H	probably damaging	Het
Cbln3	T	G	14: 55,884,129	E20A	probably benign	Het
Csrnp3	A	G	2: 66,019,543	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,455,951	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,096,691	T295S	probably damaging	Het
Dbn1	C	T	13: 55,474,916	E585K	probably damaging	Het
Dok1	A	T	6: 83,031,569	D377E	probably damaging	Het
Eed	A	T	7: 89,971,552	Y87*	probably null	Het
Entpd3	T	C	9: 120,557,421	V156A	probably damaging	Het
Exo5	T	A	4: 120,922,072	T199S	probably damaging	Het
Extl2	T	C	3: 116,024,357	I106T	probably benign	Het
Ezh2	A	G	6: 47,551,726	C291R	probably benign	Het
Flvcr1	A	T	1: 191,011,219	M466K	probably benign	Het
Fras1	G	T	5: 96,691,372	M1583I	probably benign	Het
Fzd9	G	T	5: 135,249,619	R471S	probably damaging	Het
Galr1	A	T	18: 82,405,540	F204Y	probably damaging	Het
Gm38394	A	T	1: 133,658,538	S354T	probably benign	Het
Gna11	A	T	10: 81,530,904	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484	E430G	possibly damaging	Het
Hhatl	C	T	9: 121,788,762	A254T	probably benign	Het
Ikzf1	A	C	11: 11,769,352	N353T	probably benign	Het
Il7	T	A	3: 7,576,027	T110S	probably damaging	Het
Keg1	A	G	19: 12,711,060	N53D	probably damaging	Het
Klhl21	T	C	4: 152,015,507	I558T	probably damaging	Het
Lca5l	G	A	16: 96,162,653	T357M	probably damaging	Het
Lrba	T	C	3: 86,715,654	S2448P	probably damaging	Het
Map3k6	T	A	4: 133,248,082	Y709*	probably null	Het
Megf6	A	G	4: 154,267,967	E1261G	probably benign	Het
Mettl3	C	T	14: 52,296,698	G473D	probably damaging	Het
Mga	A	G	2: 119,902,790	I40V	probably damaging	Het
Nampt	T	C	12: 32,833,101	V95A	probably benign	Het
Nbeal1	T	C	1: 60,247,734	V905A	probably benign	Het
Nomo1	A	T	7: 46,068,698	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,543,298	I101F	probably damaging	Het
Nup160	A	T	2: 90,735,427	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,326,979	S69P	probably damaging	Het
Olfr1105	A	T	2: 87,033,445	Y259N	probably damaging	Het
Olfr1240	C	A	2: 89,440,175	V35L	possibly damaging	Het
Olfr1283	A	G	2: 111,369,105	S158G	possibly damaging	Het
Olfr1390	T	A	11: 49,340,673	I47N	possibly damaging	Het
Olfr143	T	C	9: 38,253,864	F149S	probably benign	Het
Olfr870	G	A	9: 20,171,214	A119V	probably damaging	Het
Olfr894	A	G	9: 38,219,455	I211V	probably benign	Het
Osbpl3	C	T	6: 50,348,018	V167I	probably benign	Het
Pclo	T	A	5: 14,713,022	H3836Q	unknown	Het
Prkcg	A	T	7: 3,304,304		probably null	Het
Ror1	A	T	4: 100,412,000	H345L	possibly damaging	Het
Slc36a2	C	T	11: 55,181,544		probably null	Het
Slc40a1	G	A	1: 45,911,374	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,457,344	T239K	probably benign	Het
Snapc3	A	G	4: 83,450,162	I299V	probably benign	Het
Sp3	G	A	2: 72,971,501	A56V	possibly damaging	Het
Spag17	T	A	3: 100,065,554	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,737,926	T978A	probably benign	Het
Stom	C	A	2: 35,321,632	V126F	probably damaging	Het
Stpg2	A	G	3: 139,218,321	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,902,957	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,921,350	I69S	probably benign	Het
Tbata	A	T	10: 61,180,339	D198V	probably damaging	Het
Tbc1d5	T	C	17: 50,756,705	I638V	probably benign	Het
Tomm70a	A	G	16: 57,149,903	D548G	probably benign	Het
Ust	A	G	10: 8,245,936	F303L	probably damaging	Het
Vps13d	A	G	4: 144,976,560	S4306P	probably benign	Het
Zfp691	A	G	4: 119,170,496	S180P	possibly 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
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
R5946:Mmp13	UTSW	9	7276580	missense	probably damaging	1.00
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
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'- GCTAAGCCTAAAGCTATGTGGGACC -3'
(R):5'- TTCTACCCAGACAAGCAGTTTGCTC -3'

Sequencing Primer
(F):5'- TAGagaagacagagaaaaatcagaac -3'
(R):5'- ACAAGCAGTTTGCTCTCTCATTTTG -3'

Posted On

2013-05-23