Mutagenetix > Incidental Mutation

Incidental Mutation 'R1478:Mmp13'

165631

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

039531-MU

Accession Numbers

Essential gene?

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

Stock #

R1478 (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 7272892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 84 (L84P)

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: L84P

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

SMART Domains

Protein: ENSMUSP00000015394
Gene: ENSMUSG00000050578
AA Change: L84P

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: 98.2%
10x: 95.7%
20x: 90.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,580,287 (GRCm39)	I204N	possibly damaging	Het
Acaca	A	G	11: 84,263,453 (GRCm39)	T2025A	probably damaging	Het
B4galt3	C	T	1: 171,103,938 (GRCm39)	R170C	probably benign	Het
BC028528	T	C	3: 95,799,271 (GRCm39)		probably null	Het
Ccdc73	A	T	2: 104,737,955 (GRCm39)	Q17L	possibly damaging	Het
Ccdc73	A	G	2: 104,745,012 (GRCm39)	T50A	possibly damaging	Het
Ccdc83	T	C	7: 89,908,677 (GRCm39)	D19G	probably damaging	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cct8l1	T	C	5: 25,722,767 (GRCm39)	V494A	probably benign	Het
Chd1	T	C	17: 15,959,769 (GRCm39)	F663L	probably damaging	Het
Chn2	A	T	6: 54,270,065 (GRCm39)	E319V	probably damaging	Het
Cnnm1	T	C	19: 43,460,295 (GRCm39)	V679A	probably damaging	Het
Cntn6	C	T	6: 104,753,389 (GRCm39)	T447I	probably benign	Het
Cyp3a11	G	T	5: 145,795,581 (GRCm39)	L457I	probably benign	Het
Dera	T	A	6: 137,807,193 (GRCm39)	S214T	possibly damaging	Het
Dmtf1	A	G	5: 9,171,404 (GRCm39)	V501A	possibly damaging	Het
Dnpep	A	G	1: 75,292,671 (GRCm39)	V114A	probably damaging	Het
Dscam	C	T	16: 96,592,110 (GRCm39)	V722M	probably benign	Het
Dsp	A	G	13: 38,365,114 (GRCm39)	N499S	probably damaging	Het
Ecd	A	T	14: 20,396,725 (GRCm39)	Y53*	probably null	Het
Esyt3	T	C	9: 99,200,119 (GRCm39)	T692A	probably benign	Het
Fat1	T	A	8: 45,478,659 (GRCm39)	N2545K	probably damaging	Het
Fndc3a	A	G	14: 72,795,072 (GRCm39)		probably null	Het
Fscn3	A	G	6: 28,430,567 (GRCm39)	M246V	probably benign	Het
Gde1	G	T	7: 118,291,007 (GRCm39)	T106K	probably benign	Het
Gjc2	A	G	11: 59,068,434 (GRCm39)	I16T	possibly damaging	Het
Hacd4	A	T	4: 88,341,260 (GRCm39)	M168K	probably damaging	Het
Hmx3	A	G	7: 131,145,826 (GRCm39)	E178G	probably damaging	Het
Htt	A	G	5: 34,961,171 (GRCm39)	Y266C	probably damaging	Het
Jkampl	A	T	6: 73,446,039 (GRCm39)	L170Q	probably damaging	Het
Kif27	G	T	13: 58,451,359 (GRCm39)	R990S	probably damaging	Het
Krtap22-2	A	T	16: 88,807,534 (GRCm39)	Y21*	probably null	Het
Lrrc41	T	A	4: 115,952,405 (GRCm39)	L661*	probably null	Het
Lrrc63	T	C	14: 75,363,424 (GRCm39)	T236A	probably benign	Het
Myh8	T	C	11: 67,183,551 (GRCm39)	I754T	probably benign	Het
Neb	A	C	2: 52,065,619 (GRCm39)	D5961E	probably benign	Het
Nlrx1	T	C	9: 44,175,374 (GRCm39)	H134R	probably benign	Het
Npepps	A	T	11: 97,117,673 (GRCm39)	M542K	probably benign	Het
Nup160	C	T	2: 90,509,743 (GRCm39)		probably benign	Het
Or3a1c	T	A	11: 74,045,963 (GRCm39)		probably null	Het
Or8g33	T	A	9: 39,337,888 (GRCm39)	T160S	possibly damaging	Het
Pikfyve	T	C	1: 65,302,136 (GRCm39)		probably null	Het
Ppp6r1	A	T	7: 4,643,377 (GRCm39)		probably null	Het
Prss33	A	G	17: 24,054,072 (GRCm39)	W45R	probably damaging	Het
Ptprf	A	T	4: 118,069,302 (GRCm39)	Y980*	probably null	Het
Qrich1	T	C	9: 108,436,531 (GRCm39)	V743A	probably benign	Het
Rev3l	G	A	10: 39,659,329 (GRCm39)		probably null	Het
Samd9l	A	T	6: 3,376,369 (GRCm39)	N297K	probably benign	Het
Sap130	A	G	18: 31,813,527 (GRCm39)	H528R	possibly damaging	Het
Slc9b2	T	C	3: 135,031,863 (GRCm39)	V241A	probably benign	Het
Snx14	A	T	9: 88,276,581 (GRCm39)	V577E	probably benign	Het
Srrm2	T	C	17: 24,034,876 (GRCm39)	S507P	probably benign	Het
Stat2	A	G	10: 128,117,969 (GRCm39)		probably null	Het
Susd5	T	C	9: 113,925,752 (GRCm39)	F545S	probably benign	Het
Tafa2	T	A	10: 123,429,401 (GRCm39)	M5K	possibly damaging	Het
Tnnt2	A	G	1: 135,775,764 (GRCm39)	T107A	probably benign	Het
Trappc6b	T	A	12: 59,094,953 (GRCm39)	I41F	possibly damaging	Het
Ttn	T	A	2: 76,682,417 (GRCm39)		probably benign	Het
Vmn1r88	A	C	7: 12,911,878 (GRCm39)	D78A	probably damaging	Het
Xpc	C	T	6: 91,485,510 (GRCm39)	D122N	possibly damaging	Het
Xpo1	C	T	11: 23,241,623 (GRCm39)	A890V	probably damaging	Het
Zfp493	A	G	13: 67,934,680 (GRCm39)	H211R	probably damaging	Het
Zfp958	A	T	8: 4,679,190 (GRCm39)	H405L	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
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
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'- GCAGAGGTACTGTATTCTGCCAAGG -3'
(R):5'- AGTGGAACCCTCCATCTTCAGGAAC -3'

Sequencing Primer
(F):5'- TATTCTGCCAAGGATGGCAC -3'
(R):5'- CTCACCAAAAATAATGTTGGGGC -3'

Posted On

2014-03-28