Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02089:Mmp24'

279350

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

Essential gene?

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

Stock #

IGL02089

Quality Score

Status

Chromosome

Chromosomal Location

155617262-155660286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155654213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 397 (G397D)

Ref Sequence

ENSEMBL: ENSMUSP00000029141 (fasta)

Gene Model

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

AlphaFold

Q9R0S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000029141
AA Change: G397D

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

SMART Domains

Protein: ENSMUSP00000029141
Gene: ENSMUSG00000027612
AA Change: G397D

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

noncoding transcript
Transcript: ENSMUST00000135945

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330160F10Rik	C	T	11: 68,951,013 (GRCm39)		silent	Het
Adck1	G	T	12: 88,413,480 (GRCm39)	V271F	probably damaging	Het
Aggf1	T	C	13: 95,507,437 (GRCm39)	D116G	probably benign	Het
Anapc1	A	T	2: 128,505,853 (GRCm39)	V661E	probably damaging	Het
Apoa5	T	C	9: 46,180,437 (GRCm39)		probably null	Het
Atp8a2	C	T	14: 60,264,369 (GRCm39)		probably null	Het
Bnipl	A	T	3: 95,157,577 (GRCm39)		probably benign	Het
Cbs	T	G	17: 31,834,519 (GRCm39)	D490A	probably benign	Het
Chrdl1	G	T	X: 142,086,510 (GRCm39)	H199N	possibly damaging	Het
Dcaf1	C	T	9: 106,740,310 (GRCm39)	T1232I	probably benign	Het
Ddx19b	T	C	8: 111,735,477 (GRCm39)		probably benign	Het
Ephb4	A	G	5: 137,369,024 (GRCm39)	K805E	probably damaging	Het
Ergic3	A	G	2: 155,852,395 (GRCm39)	N135D	probably benign	Het
Fbxw18	C	T	9: 109,530,390 (GRCm39)	V74I	probably benign	Het
Fmo4	G	T	1: 162,626,649 (GRCm39)	T299N	probably benign	Het
Gmeb1	T	C	4: 131,953,147 (GRCm39)	K540E	probably damaging	Het
H60c	T	A	10: 3,209,826 (GRCm39)	S154C	possibly damaging	Het
Herc1	T	C	9: 66,388,151 (GRCm39)	L3812S	probably damaging	Het
Hipk3	T	C	2: 104,261,724 (GRCm39)	D937G	probably damaging	Het
Ift122	A	G	6: 115,902,398 (GRCm39)	D1079G	probably benign	Het
Il6st	T	C	13: 112,631,774 (GRCm39)	W438R	probably benign	Het
Lypla2	C	T	4: 135,696,932 (GRCm39)	V117I	probably benign	Het
Mapk8ip1	T	C	2: 92,216,220 (GRCm39)	Y516C	probably damaging	Het
Muc4	G	A	16: 32,570,131 (GRCm39)	S397N	possibly damaging	Het
Muc5b	T	G	7: 141,416,987 (GRCm39)	V3311G	probably benign	Het
Naca	A	G	10: 127,872,358 (GRCm39)		probably benign	Het
Nrxn1	A	G	17: 91,395,829 (GRCm39)	V109A	probably benign	Het
Nup210	T	G	6: 91,053,680 (GRCm39)	D279A	probably benign	Het
Or10g6	A	T	9: 39,934,066 (GRCm39)	I126F	probably damaging	Het
Or8h7	A	G	2: 86,721,460 (GRCm39)	S20P	possibly damaging	Het
Pappa	T	A	4: 65,074,361 (GRCm39)	V305E	possibly damaging	Het
Pcdh19	A	T	X: 132,489,245 (GRCm39)	M977K	probably benign	Het
Pdzph1	T	A	17: 59,274,334 (GRCm39)	I837F	possibly damaging	Het
Phip	A	T	9: 82,753,372 (GRCm39)	L1791M	probably damaging	Het
Pkdrej	C	T	15: 85,700,489 (GRCm39)	V1816I	possibly damaging	Het
Ptprz1	G	A	6: 23,033,447 (GRCm39)	V1063M	probably damaging	Het
Qprt	A	T	7: 126,707,528 (GRCm39)	M220K	probably damaging	Het
R3hcc1	T	C	14: 69,937,475 (GRCm39)	K391E	possibly damaging	Het
Rbbp7	C	A	X: 161,554,052 (GRCm39)	P162Q	probably benign	Het
Rev3l	A	T	10: 39,701,095 (GRCm39)	N1864I	probably damaging	Het
Rims1	A	G	1: 22,669,556 (GRCm39)	I84T	possibly damaging	Het
Rnase2b	A	T	14: 51,400,240 (GRCm39)	K107I	probably benign	Het
Sbf1	C	A	15: 89,186,708 (GRCm39)	E864*	probably null	Het
Strip2	G	A	6: 29,917,179 (GRCm39)		probably benign	Het
Stx4a	T	C	7: 127,447,570 (GRCm39)	I238T	probably damaging	Het
Tbc1d2b	C	T	9: 90,104,412 (GRCm39)	V577I	possibly damaging	Het
Tex38	T	C	4: 115,637,591 (GRCm39)	T71A	possibly damaging	Het
Usp38	T	C	8: 81,712,343 (GRCm39)	E564G	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,374 (GRCm39)	V730E	probably benign	Het
Wwp2	T	A	8: 108,280,689 (GRCm39)	L644Q	probably damaging	Het
Zfp267	T	C	3: 36,218,877 (GRCm39)	F300S	possibly damaging	Het
Zpld1	A	G	16: 55,071,974 (GRCm39)	I95T	probably benign	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
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
R5773:Mmp24	UTSW	2	155,641,829 (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

Posted On

2015-04-16