Mutagenetix > Incidental Mutation

Incidental Mutation 'R7015:Mmp24'

545235

Institutional Source

Beutler Lab

Gene Symbol

Mmp24

Ensembl Gene

ENSMUSG00000027612

Gene Name

matrix metallopeptidase 24

Synonyms

Membrane type 5-MMP, MT5-MMP

MMRRC Submission

045116-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R7015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155617262-155660286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155634544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 88 (Q88R)

Ref Sequence

ENSEMBL: ENSMUSP00000029141 (fasta)

Gene Model

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

AlphaFold

Q9R0S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000029141
AA Change: Q88R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029141
Gene: ENSMUSG00000027612
AA Change: Q88R

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

93% (55/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	G	1: 159,902,738 (GRCm39)	R3G	possibly damaging	Het
Abcc2	A	G	19: 43,786,617 (GRCm39)	I150V	probably benign	Het
Adgrb1	T	C	15: 74,445,959 (GRCm39)	L1085P	probably damaging	Het
Agbl4	A	G	4: 110,335,697 (GRCm39)	N24D	probably damaging	Het
Aox1	A	G	1: 58,321,917 (GRCm39)	T70A	probably benign	Het
Aplf	G	A	6: 87,618,884 (GRCm39)	A399V	probably damaging	Het
Asxl3	A	G	18: 22,656,978 (GRCm39)	S1663G	probably benign	Het
Bcat1	G	C	6: 144,985,309 (GRCm39)	P43R	probably damaging	Het
Camk1	T	C	6: 113,318,887 (GRCm39)	R9G	probably benign	Het
Casp8ap2	T	C	4: 32,644,278 (GRCm39)	V1117A	probably damaging	Het
Cd300ld4	A	T	11: 114,913,533 (GRCm39)	V174E	probably benign	Het
Cep85l	T	C	10: 53,225,151 (GRCm39)	D146G	possibly damaging	Het
Clip1	T	C	5: 123,751,675 (GRCm39)		probably benign	Het
Cog3	C	T	14: 75,950,716 (GRCm39)	V719I	possibly damaging	Het
Col4a4	G	A	1: 82,484,671 (GRCm39)	P532L	unknown	Het
Col6a4	C	T	9: 105,910,954 (GRCm39)		probably null	Het
Dync1h1	C	T	12: 110,632,521 (GRCm39)	Q4547*	probably null	Het
Ergic1	G	A	17: 26,873,853 (GRCm39)		probably benign	Het
Foxn4	G	A	5: 114,394,916 (GRCm39)	T337M	possibly damaging	Het
Gemin5	A	T	11: 58,047,566 (GRCm39)	I336N	probably damaging	Het
Gm21905	A	T	5: 68,103,705 (GRCm39)		probably null	Het
Grik2	C	A	10: 49,411,532 (GRCm39)	R202L	probably damaging	Het
Iglon5	T	C	7: 43,126,351 (GRCm39)	D184G	probably benign	Het
Il11ra1	A	T	4: 41,765,421 (GRCm39)	Q172L	probably benign	Het
Me2	G	T	18: 73,914,218 (GRCm39)		probably null	Het
Med24	A	G	11: 98,609,678 (GRCm39)	V73A	possibly damaging	Het
Mroh3	A	T	1: 136,111,069 (GRCm39)	V819E	probably damaging	Het
Mrps9	A	G	1: 42,937,706 (GRCm39)	K247R	probably benign	Het
Myo15b	G	A	11: 115,762,670 (GRCm39)	R1254H		Het
Ncoa5	A	G	2: 164,844,001 (GRCm39)	L134P	probably benign	Het
Or4d5	A	T	9: 40,012,751 (GRCm39)	F12I	probably benign	Het
Or51e2	C	A	7: 102,391,651 (GRCm39)	L186F	probably damaging	Het
Or52a24	T	C	7: 103,382,024 (GRCm39)	V297A	probably null	Het
Pdcd11	A	G	19: 47,086,665 (GRCm39)	I224V	probably benign	Het
Ptprh	C	A	7: 4,555,626 (GRCm39)		probably null	Het
Rab34	G	T	11: 78,080,978 (GRCm39)	V63F	probably damaging	Het
Rack1	T	C	11: 48,692,592 (GRCm39)	I71T	probably benign	Het
Rai14	G	A	15: 10,589,401 (GRCm39)	R266*	probably null	Het
Rsph9	A	G	17: 46,440,382 (GRCm39)	V238A	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sel1l3	A	T	5: 53,329,916 (GRCm39)	C480S	probably benign	Het
Sh3pxd2a	C	T	19: 47,256,562 (GRCm39)	A747T	probably benign	Het
Slc1a3	T	C	15: 8,679,052 (GRCm39)	N181S	probably damaging	Het
Slit1	T	A	19: 41,618,325 (GRCm39)	K784*	probably null	Het
Sos2	T	A	12: 69,632,009 (GRCm39)	Q1297L	probably benign	Het
Srd5a2	T	A	17: 74,334,114 (GRCm39)	T102S	probably benign	Het
Ss18l2	A	T	9: 121,541,674 (GRCm39)	I64F	probably damaging	Het
Tas2r120	T	C	6: 132,634,128 (GRCm39)	F70S	possibly damaging	Het
Tjap1	G	A	17: 46,574,700 (GRCm39)	A5V	possibly damaging	Het
Tln2	A	T	9: 67,269,929 (GRCm39)	M488K	possibly damaging	Het
Tnks	T	G	8: 35,305,701 (GRCm39)	I42L	probably benign	Het
Togaram2	A	T	17: 72,016,563 (GRCm39)	Q640L	possibly damaging	Het
Triobp	C	A	15: 78,878,260 (GRCm39)	Q1682K	probably damaging	Het
Trip11	C	T	12: 101,859,942 (GRCm39)	E311K	probably damaging	Het
Ugt2b5	A	G	5: 87,287,655 (GRCm39)	Y171H	probably damaging	Het
Vmn2r66	T	C	7: 84,644,766 (GRCm39)	D548G	possibly damaging	Het
Zfp990	G	T	4: 145,263,205 (GRCm39)	D68Y	probably damaging	Het
Zranb2	A	T	3: 157,242,370 (GRCm39)		probably null	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
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
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'- CACAAGGCCACTGGGTAAAG -3'
(R):5'- GAACTGTGAAAGGGCAGTCTTTG -3'

Sequencing Primer
(F):5'- GTTTCTAGTTTTAAGGGCAAGTCTC -3'
(R):5'- TGGTATTCTCTCCCAAGAAGGCAG -3'

Posted On

2019-05-13