Mutagenetix > Incidental Mutation

Incidental Mutation 'R8411:Mmp24'

652658

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

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R8411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155775342-155818366 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 155814015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 458 (V458L)

Ref Sequence

ENSEMBL: ENSMUSP00000029141 (fasta)

Gene Model

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

AlphaFold

Q9R0S2

Predicted Effect

probably benign
Transcript: ENSMUST00000029141
AA Change: V458L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000029141
Gene: ENSMUSG00000027612
AA Change: V458L

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: ENSMUST00000124586

SMART Domains

Protein: ENSMUSP00000145349
Gene: ENSMUSG00000074649

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,137,722	S89P	probably benign	Het
Aatf	A	T	11: 84,470,676	M367K	probably benign	Het
Adam18	A	T	8: 24,652,127	I211N	probably damaging	Het
Angpt1	T	C	15: 42,427,034	Y478C	probably damaging	Het
Apba2	A	T	7: 64,736,926	I434F	probably damaging	Het
Arfgef1	T	A	1: 10,216,534	K50N	probably benign	Het
Arfgef2	A	T	2: 166,873,983	Q1397H	probably benign	Het
Ascc2	G	A	11: 4,647,208	R129Q	probably damaging	Het
Atxn1	A	G	13: 45,566,556	V621A	probably benign	Het
Catsperz	A	T	19: 6,922,562	L192M	probably benign	Het
Cd5	G	A	19: 10,720,221	P465S	probably damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cfap61	A	G	2: 145,947,183	E94G	probably benign	Het
Chd1	A	G	17: 15,762,449	H1392R	probably damaging	Het
Csnk1a1	A	G	18: 61,555,817	I23V	probably benign	Het
Ctnnd2	C	T	15: 30,647,033	R292C	probably benign	Het
Dcaf6	T	A	1: 165,388,675	H453L	probably benign	Het
Dnah3	C	A	7: 120,011,030	D1728Y	probably damaging	Het
Dtx3	T	C	10: 127,192,824	K179E	possibly damaging	Het
Fam3b	T	A	16: 97,481,853	Y74F	probably benign	Het
Gm5464	T	C	14: 66,869,106	L64P	unknown	Het
Gm5624	T	G	14: 44,561,890	N70T		Het
Kcnh7	T	A	2: 62,764,608	H706L	probably damaging	Het
Kdm2b	C	T	5: 122,880,176	R1067H	probably damaging	Het
Klhl28	A	T	12: 64,950,090	H492Q	probably damaging	Het
Loxl3	T	A	6: 83,050,624	C716S	probably damaging	Het
Ltbp2	A	G	12: 84,786,413	Y1474H	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Mpl	C	A	4: 118,446,109	S502I		Het
Nfatc1	A	T	18: 80,667,042	V503D	probably damaging	Het
Nim1k	A	G	13: 119,714,271	I133T	possibly damaging	Het
Nr1d2	T	C	14: 18,215,031	Y327C	probably damaging	Het
Olfr1214	T	C	2: 88,988,065	T46A	probably benign	Het
Oma1	C	T	4: 103,328,916	R360*	probably null	Het
Oog2	T	A	4: 144,194,173	W59R	probably damaging	Het
Pcdh10	A	G	3: 45,379,539	E96G	probably damaging	Het
Pcna	T	A	2: 132,251,930	T98S	probably benign	Het
Pcnx3	C	T	19: 5,679,590	C899Y	possibly damaging	Het
Phf11d	T	C	14: 59,356,434	N97S	probably benign	Het
Plekhg4	G	A	8: 105,377,329	W431*	probably null	Het
Plk4	A	G	3: 40,813,466	T815A	probably benign	Het
Pnma2	C	T	14: 66,916,313	T62I	possibly damaging	Het
Ppp1r9a	C	T	6: 5,057,568	R548W	probably damaging	Het
Ptx3	A	G	3: 66,224,780	S241G	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rplp0	A	T	5: 115,560,764	K26N	probably damaging	Het
Sec62	A	C	3: 30,818,782	E338A	unknown	Het
Sema6a	T	C	18: 47,248,955	M842V	probably benign	Het
Serpina3j	T	C	12: 104,314,784	V72A	probably benign	Het
Siglecf	T	C	7: 43,351,944	F112S	probably damaging	Het
Slc29a4	A	G	5: 142,720,125	N455D	probably damaging	Het
Slc6a11	T	A	6: 114,131,437	F54Y	probably benign	Het
Spag6	G	A	2: 18,710,583	V80M	probably damaging	Het
Spic	T	C	10: 88,678,636	E34G	possibly damaging	Het
Tecpr2	A	G	12: 110,931,720	K469E	possibly damaging	Het
Them7	T	A	2: 105,297,845	L57Q	probably benign	Het
Tlr3	G	A	8: 45,396,941	A897V	probably damaging	Het
Tnp2	A	G	16: 10,788,508	C32R	possibly damaging	Het
Trpm6	A	T	19: 18,853,968	Q1399L	probably benign	Het
Ttn	C	A	2: 76,846,671	E11074*	probably null	Het
Ubash3b	G	A	9: 41,043,485	A243V	probably benign	Het
Vash1	G	A	12: 86,680,178	R64Q	possibly damaging	Het
Vmn1r167	T	A	7: 23,505,556	M12L	possibly damaging	Het
Vmn2r111	T	A	17: 22,548,581	H645L	probably benign	Het
Vmn2r75	A	T	7: 86,148,514	I697K	probably damaging	Het
Vmn2r87	A	G	10: 130,472,257	I704T	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
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
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
R9500:Mmp24	UTSW	2	155812275	missense	probably damaging	1.00
Z1176:Mmp24	UTSW	2	155810392	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTGGCTTTTGCTCCACAGG -3'
(R):5'- TCAGCTTGGCCCTTACATAC -3'

Sequencing Primer
(F):5'- GGGGCTAAAACTCACATTCCGG -3'
(R):5'- ATACATCCTTCCTTGCTGATGAAGG -3'

Posted On

2020-10-20