Mutagenetix > Incidental Mutation

Incidental Mutation 'R5773:Mmp24'

445486

Institutional Source

Beutler Lab

Gene Symbol

Mmp24

Ensembl Gene

ENSMUSG00000027612

Gene Name

matrix metallopeptidase 24

Synonyms

Membrane type 5-MMP, MT5-MMP

MMRRC Submission

043372-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R5773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155617262-155660286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155641829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 219 (Y219C)

Ref Sequence

ENSEMBL: ENSMUSP00000029141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029141]

AlphaFold

Q9R0S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000029141
AA Change: Y219C

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

SMART Domains

Protein: ENSMUSP00000029141
Gene: ENSMUSG00000027612
AA Change: Y219C

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
Pfam:PG_binding_1	52	107	6.9e-14	PFAM
ZnMc	132	301	1.78e-60	SMART
low complexity region	323	346	N/A	INTRINSIC
HX	357	400	7.4e-9	SMART
HX	402	446	7.01e-10	SMART
HX	449	495	6.49e-14	SMART
HX	497	542	6.64e-11	SMART
Pfam:DUF3377	548	618	1.9e-30	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Mice lacking the encoded protein do not develop neuropathic pain with mechanical allodynia after sciatic nerve injury, display enhanced sensitivity to noxious thermal stimuli under basal conditions, and develop hyperalgesia during inflammation. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene fail to develop neuropathic pain after peripheral nerve injury. They also experience reduced stress and enhanced mechanical coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,416,614 (GRCm39)		probably null	Het
Akna	C	T	4: 63,313,307 (GRCm39)	S272N	probably benign	Het
Ap2m1	T	C	16: 20,362,140 (GRCm39)	V416A	probably damaging	Het
Atp7b	A	G	8: 22,517,879 (GRCm39)	F320L	probably benign	Het
Brd1	T	C	15: 88,573,752 (GRCm39)	K1116E	probably benign	Het
Ccdc186	T	C	19: 56,801,919 (GRCm39)	D66G	probably benign	Het
Cdh4	A	G	2: 179,527,789 (GRCm39)	Y503C	probably damaging	Het
Cfb	C	A	17: 35,076,248 (GRCm39)	E166*	probably null	Het
Cmtm1	A	T	8: 105,031,808 (GRCm39)	F90I	probably damaging	Het
Col1a1	A	T	11: 94,830,255 (GRCm39)	K160N	probably benign	Het
Cradd	T	C	10: 95,011,823 (GRCm39)	I106V	probably benign	Het
Defa17	A	G	8: 22,146,574 (GRCm39)	R67G	probably damaging	Het
Dgkh	T	C	14: 78,832,895 (GRCm39)	N765S	probably damaging	Het
Dock5	A	G	14: 68,033,507 (GRCm39)	V954A	possibly damaging	Het
Eif2d	A	G	1: 131,086,040 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,004,040 (GRCm39)	F683I	probably damaging	Het
Fhad1	T	G	4: 141,656,881 (GRCm39)	K91T	probably damaging	Het
Fut11	A	T	14: 20,748,383 (GRCm39)	D476V	probably damaging	Het
Gldn	T	C	9: 54,241,775 (GRCm39)		probably null	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gm8674	T	A	13: 50,055,912 (GRCm39)		noncoding transcript	Het
Gtpbp6	C	A	5: 110,254,757 (GRCm39)	E168D	possibly damaging	Het
Hinfp	T	A	9: 44,210,533 (GRCm39)	H163L	probably benign	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Ing3	T	A	6: 21,971,834 (GRCm39)	C368S	probably damaging	Het
Itih1	A	G	14: 30,657,356 (GRCm39)	V489A	possibly damaging	Het
Itsn2	T	C	12: 4,757,089 (GRCm39)	L1393P	probably damaging	Het
Kcnj13	T	C	1: 87,314,389 (GRCm39)	T278A	probably damaging	Het
Kntc1	G	A	5: 123,932,220 (GRCm39)	R1338Q	probably damaging	Het
Lipi	T	A	16: 75,370,813 (GRCm39)	T135S	probably damaging	Het
Map7	A	G	10: 20,122,390 (GRCm39)	K152R	probably benign	Het
Nup188	T	C	2: 30,212,208 (GRCm39)	V565A	possibly damaging	Het
Nup210	T	C	6: 91,062,865 (GRCm39)	K265E	probably damaging	Het
Or10ak9	A	G	4: 118,726,718 (GRCm39)	T247A	probably damaging	Het
Pcdha6	A	T	18: 37,102,643 (GRCm39)	H612L	probably benign	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pld2	G	T	11: 70,446,758 (GRCm39)	S778I	probably damaging	Het
Ppef2	A	C	5: 92,398,420 (GRCm39)	Y33D	probably damaging	Het
Ppfibp2	A	T	7: 107,285,079 (GRCm39)	T129S	possibly damaging	Het
Prickle1	G	T	15: 93,406,478 (GRCm39)	H182N	probably damaging	Het
R3hdm2	T	A	10: 127,280,172 (GRCm39)		probably benign	Het
Rbm12b1	A	T	4: 12,145,765 (GRCm39)	E579V	probably damaging	Het
Rsf1	GGC	GGCGGCGGCTGC	7: 97,229,140 (GRCm39)		probably benign	Het
Slc1a6	T	G	10: 78,629,111 (GRCm39)		probably null	Het
Slc27a6	G	T	18: 58,715,245 (GRCm39)	A283S	probably damaging	Het
Spats2l	T	A	1: 57,918,708 (GRCm39)	N27K	possibly damaging	Het
Srgap1	T	C	10: 121,732,614 (GRCm39)	M155V	probably benign	Het
Stxbp5l	C	A	16: 37,028,459 (GRCm39)	A535S	probably damaging	Het
Svep1	C	A	4: 58,099,985 (GRCm39)	C1353F	possibly damaging	Het
Taar4	T	A	10: 23,837,056 (GRCm39)	I222N	probably damaging	Het
Tlr6	A	G	5: 65,111,846 (GRCm39)	F354L	probably benign	Het
Trp53bp1	A	G	2: 121,074,395 (GRCm39)	S452P	probably damaging	Het
Ttll5	GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC	G	12: 85,980,329 (GRCm39)		probably null	Het
Usp42	A	T	5: 143,699,467 (GRCm39)	M1264K	probably benign	Het
Zfp865	A	T	7: 5,037,693 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,334,511 (GRCm39)	L169Q	probably damaging	Het
Zmym4	A	T	4: 126,799,163 (GRCm39)	N383K	possibly damaging	Het

Other mutations in Mmp24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Mmp24	APN	2	155,641,807 (GRCm39)	missense	probably damaging	1.00
IGL02089:Mmp24	APN	2	155,654,213 (GRCm39)	missense	probably damaging	1.00
IGL02452:Mmp24	APN	2	155,657,708 (GRCm39)	missense	probably damaging	1.00
R0600:Mmp24	UTSW	2	155,634,517 (GRCm39)	missense	probably benign	0.01
R1381:Mmp24	UTSW	2	155,656,047 (GRCm39)	missense	possibly damaging	0.46
R4497:Mmp24	UTSW	2	155,655,908 (GRCm39)	missense	possibly damaging	0.85
R4498:Mmp24	UTSW	2	155,655,908 (GRCm39)	missense	possibly damaging	0.85
R4727:Mmp24	UTSW	2	155,657,819 (GRCm39)	missense	possibly damaging	0.55
R4985:Mmp24	UTSW	2	155,656,016 (GRCm39)	missense	probably damaging	0.99
R5020:Mmp24	UTSW	2	155,652,204 (GRCm39)	missense	probably benign	0.09
R5501:Mmp24	UTSW	2	155,640,056 (GRCm39)	missense	probably damaging	1.00
R5686:Mmp24	UTSW	2	155,641,697 (GRCm39)	missense	probably damaging	0.99
R5709:Mmp24	UTSW	2	155,634,462 (GRCm39)	missense	probably damaging	1.00
R6452:Mmp24	UTSW	2	155,657,673 (GRCm39)	missense	possibly damaging	0.67
R6657:Mmp24	UTSW	2	155,640,099 (GRCm39)	missense	probably damaging	1.00
R7015:Mmp24	UTSW	2	155,634,544 (GRCm39)	missense	probably damaging	0.99
R7699:Mmp24	UTSW	2	155,640,096 (GRCm39)	missense	probably damaging	0.99
R8076:Mmp24	UTSW	2	155,649,481 (GRCm39)	nonsense	probably null
R8111:Mmp24	UTSW	2	155,649,345 (GRCm39)	missense	possibly damaging	0.81
R8139:Mmp24	UTSW	2	155,655,965 (GRCm39)	nonsense	probably null
R8304:Mmp24	UTSW	2	155,641,759 (GRCm39)	missense	possibly damaging	0.85
R8344:Mmp24	UTSW	2	155,652,223 (GRCm39)	missense	possibly damaging	0.68
R8411:Mmp24	UTSW	2	155,655,935 (GRCm39)	missense	probably benign	0.03
R8527:Mmp24	UTSW	2	155,641,634 (GRCm39)	missense	probably benign	0.02
R8542:Mmp24	UTSW	2	155,641,634 (GRCm39)	missense	probably benign	0.02
R9198:Mmp24	UTSW	2	155,640,041 (GRCm39)	missense	probably benign	0.19
R9500:Mmp24	UTSW	2	155,654,195 (GRCm39)	missense	probably damaging	1.00
Z1176:Mmp24	UTSW	2	155,652,312 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGGCTATTCGTCAGGCTTTCG -3'
(R):5'- ACAGTTCTTGCTCTCTTGGG -3'

Sequencing Primer
(F):5'- GATGTGTGGCAGAAGGTGACTC -3'
(R):5'- AAGCAGGTCTCTCATCAATGGTG -3'

Posted On

2016-11-21