Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02452:Mmp24'

293676

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmp24

Ensembl Gene

ENSMUSG00000027612

Gene Name

matrix metallopeptidase 24

Synonyms

Membrane type 5-MMP, MT5-MMP

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

155775342-155818366 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 155815788 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 533 (R533C)

Ref Sequence

ENSEMBL: ENSMUSP00000029141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029141] [ENSMUST00000029142] [ENSMUST00000124586] [ENSMUST00000154841]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029141
AA Change: R533C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029141
Gene: ENSMUSG00000027612
AA Change: R533C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029142

SMART Domains

Protein: ENSMUSP00000029142
Gene: ENSMUSG00000027613

Domain	Start	End	E-Value	Type
eIF6	3	204	2.72e-136	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124586

SMART Domains

Protein: ENSMUSP00000145349
Gene: ENSMUSG00000074649

Domain	Start	End	E-Value	Type
low complexity region	7	37	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134811

Predicted Effect

probably benign
Transcript: ENSMUST00000154841

SMART Domains

Protein: ENSMUSP00000115715
Gene: ENSMUSG00000027613

Domain	Start	End	E-Value	Type
Pfam:eIF-6	3	45	7.8e-10	PFAM

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,941,970	V11F	probably damaging	Het
Alk	A	T	17: 71,902,625	Y941*	probably null	Het
Armc4	C	T	18: 7,129,461	E906K	probably damaging	Het
Blm	A	T	7: 80,503,377		probably null	Het
Blvrb	T	C	7: 27,459,340	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,317,942	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 66,007,785	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,792,626	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,811,446	S131T	probably benign	Het
Dupd1	G	A	14: 21,702,922	T52I	probably damaging	Het
Dzip3	T	A	16: 48,938,537		probably benign	Het
Espl1	T	C	15: 102,299,839	S427P	probably damaging	Het
Fasn	A	T	11: 120,808,180	D2424E	probably benign	Het
Flrt2	G	A	12: 95,779,483	M198I	probably benign	Het
Gen1	A	T	12: 11,242,575	S404R	probably benign	Het
Gm11596	A	T	11: 99,792,980	C105S	unknown	Het
Gm8765	A	T	13: 50,703,077	H917L	probably damaging	Het
Hdlbp	A	T	1: 93,417,511	V714D	probably damaging	Het
Igkv4-80	A	G	6: 69,016,832	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,171,941	W76*	probably null	Het
Ikzf1	T	C	11: 11,748,545	L132P	probably damaging	Het
Kcna6	C	A	6: 126,738,480	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,841,842	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,474,002	D175E	probably damaging	Het
Lrrtm3	T	C	10: 64,088,036	K451E	probably damaging	Het
Mcm9	C	T	10: 53,541,557	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492	S475R	probably benign	Het
Moxd1	C	T	10: 24,282,752	P435S	probably damaging	Het
Mta2	T	A	19: 8,950,306	I497N	probably benign	Het
Mtus2	T	C	5: 148,077,663	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,656,426	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,620,924		probably null	Het
Nid1	A	T	13: 13,508,720	T1128S	probably benign	Het
Olfr583	A	G	7: 103,051,931	D211G	probably benign	Het
Pcdh12	G	A	18: 38,281,693	P793L	probably benign	Het
Pclo	A	T	5: 14,676,966		probably benign	Het
Prpf31	T	A	7: 3,634,186	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,649,085	N656K	probably benign	Het
Ptprn	T	A	1: 75,258,169	H258L	probably benign	Het
Rab19	A	G	6: 39,389,798	T216A	probably benign	Het
Ryr3	A	C	2: 112,833,990	L1652W	probably damaging	Het
Six2	A	C	17: 85,685,378	S232R	possibly damaging	Het
Spag17	T	C	3: 100,027,391	V663A	probably benign	Het
Spag5	A	G	11: 78,304,623	N252S	probably benign	Het
Sptb	C	T	12: 76,609,036		probably null	Het
Synj1	A	G	16: 90,961,365		probably benign	Het
Tekt2	T	C	4: 126,324,852	H36R	possibly damaging	Het
Tjp1	A	T	7: 65,312,655	M1258K	probably damaging	Het
Txnrd3	T	C	6: 89,674,795	*502Q	probably null	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
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
R6657:Mmp24	UTSW	2	155798179	missense	probably damaging	1.00
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
Z1176:Mmp24	UTSW	2	155810392	missense	probably damaging	0.98

Posted On

2015-04-16