Mutagenetix > Incidental Mutations

Incidental Mutation 'R6657:Mmp24'

526651

Institutional Source

Beutler Lab

Gene Symbol

Mmp24

Ensembl Gene

ENSMUSG00000027612

Gene Name

matrix metallopeptidase 24

Synonyms

Membrane type 5-MMP, MT5-MMP

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

R6657 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155775342-155818366 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155798179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 143 (Y143F)

Ref Sequence

ENSEMBL: ENSMUSP00000029141 (fasta)

Gene Model

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

AlphaFold

Q9R0S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000029141
AA Change: Y143F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029141
Gene: ENSMUSG00000027612
AA Change: Y143F

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: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (48/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	G	8: 105,708,818	L36R	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Akr1b7	A	C	6: 34,416,200	D106A	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Chst5	C	T	8: 111,890,274	R238Q	probably benign	Het
Cpxm2	T	C	7: 132,049,077	Y618C	probably damaging	Het
Csnk1d	T	C	11: 120,964,994	E405G	possibly damaging	Het
Ctsh	A	T	9: 90,060,502	M37L	probably benign	Het
Eml5	T	G	12: 98,791,405	I1843L	probably damaging	Het
Ep400	C	A	5: 110,693,545		probably benign	Het
Fbln2	A	G	6: 91,259,750	N749S	possibly damaging	Het
Gpc5	A	G	14: 115,370,198	H404R	probably benign	Het
Hyal6	A	G	6: 24,734,758	D230G	possibly damaging	Het
Itga5	T	C	15: 103,350,795	D735G	probably damaging	Het
Kansl2	T	A	15: 98,524,670	Q339L	possibly damaging	Het
Lrp4	T	A	2: 91,492,053	M1078K	probably benign	Het
Mroh7	A	T	4: 106,702,500	C743*	probably null	Het
Myh14	T	C	7: 44,637,846	N618D	probably damaging	Het
Myo19	A	T	11: 84,897,196	M324L	probably benign	Het
Nectin2	T	C	7: 19,738,140	N108S	probably benign	Het
Nrg2	A	G	18: 36,196,589	I191T	probably damaging	Het
Odf4	T	C	11: 68,926,812	N18D	probably benign	Het
Olfr1109	T	A	2: 87,093,059	I113F	probably benign	Het
Pcsk2	T	G	2: 143,690,366	L145V	probably damaging	Het
Pdzrn3	C	A	6: 101,151,022	Q894H	probably benign	Het
Pfpl	G	A	19: 12,429,926	V514I	probably benign	Het
Plbd1	A	T	6: 136,617,252	M333K	probably damaging	Het
Plec	A	T	15: 76,178,156	M2554K	possibly damaging	Het
Psmb5	A	G	14: 54,614,383	Y115H	possibly damaging	Het
Rictor	A	G	15: 6,759,496	N198D	possibly damaging	Het
Rsrc2	A	G	5: 123,739,567		probably benign	Het
Sec16a	C	T	2: 26,425,864	W262*	probably null	Het
Sfmbt1	A	G	14: 30,766,096	D8G	possibly damaging	Het
Sptbn5	T	G	2: 120,076,400		probably benign	Het
Sqor	A	G	2: 122,807,594	D139G	possibly damaging	Het
Sugt1	A	T	14: 79,607,261	T139S	probably benign	Het
Tcp11	G	A	17: 28,071,672	P159S	probably damaging	Het
Tmem262	A	G	19: 6,080,512	T89A	possibly damaging	Het
Tnfaip6	C	A	2: 52,043,783	T50N	probably damaging	Het
Ttll9	T	C	2: 152,984,262	Y131H	probably damaging	Het
Vmn1r173	T	A	7: 23,702,895	M185K	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r52	G	A	7: 10,159,163	T683I	probably damaging	Het
Vps53	A	T	11: 76,134,427	I197N	probably damaging	Het
Washc4	T	A	10: 83,558,618	F269L	possibly damaging	Het
Wdfy4	C	T	14: 33,047,251	V2086M	possibly damaging	Het
Zfp592	A	T	7: 81,025,486	T733S	possibly damaging	Het
Zfp599	A	G	9: 22,250,242	F209S	probably damaging	Het

Other mutations in Mmp24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Mmp24	APN	2	155799887	missense	probably damaging	1.00
IGL02089:Mmp24	APN	2	155812293	missense	probably damaging	1.00
IGL02452:Mmp24	APN	2	155815788	missense	probably damaging	1.00
R0600:Mmp24	UTSW	2	155792597	missense	probably benign	0.01
R1381:Mmp24	UTSW	2	155814127	missense	possibly damaging	0.46
R4497:Mmp24	UTSW	2	155813988	missense	possibly damaging	0.85
R4498:Mmp24	UTSW	2	155813988	missense	possibly damaging	0.85
R4727:Mmp24	UTSW	2	155815899	missense	possibly damaging	0.55
R4985:Mmp24	UTSW	2	155814096	missense	probably damaging	0.99
R5020:Mmp24	UTSW	2	155810284	missense	probably benign	0.09
R5501:Mmp24	UTSW	2	155798136	missense	probably damaging	1.00
R5686:Mmp24	UTSW	2	155799777	missense	probably damaging	0.99
R5709:Mmp24	UTSW	2	155792542	missense	probably damaging	1.00
R5773:Mmp24	UTSW	2	155799909	missense	probably damaging	1.00
R6452:Mmp24	UTSW	2	155815753	missense	possibly damaging	0.67
R7015:Mmp24	UTSW	2	155792624	missense	probably damaging	0.99
R7699:Mmp24	UTSW	2	155798176	missense	probably damaging	0.99
R8076:Mmp24	UTSW	2	155807561	nonsense	probably null
R8111:Mmp24	UTSW	2	155807425	missense	possibly damaging	0.81
R8139:Mmp24	UTSW	2	155814045	nonsense	probably null
R8304:Mmp24	UTSW	2	155799839	missense	possibly damaging	0.85
R8344:Mmp24	UTSW	2	155810303	missense	possibly damaging	0.68
R8411:Mmp24	UTSW	2	155814015	missense	probably benign	0.03
R8527:Mmp24	UTSW	2	155799714	missense	probably benign	0.02
R8542:Mmp24	UTSW	2	155799714	missense	probably benign	0.02
R9198:Mmp24	UTSW	2	155798121	missense	probably benign	0.19
Z1176:Mmp24	UTSW	2	155810392	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCTGTCTTAGAGTGCTCAGTAAC -3'
(R):5'- AAACCTGAGGGTGGAGTCAC -3'

Sequencing Primer
(F):5'- TGCTCAGTAACCACAGTGTG -3'
(R):5'- CAAGGAAGACAAGTTCACAGGCTC -3'

Posted On

2018-07-23