Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02612:Epm2a'

300518

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epm2a

Ensembl Gene

ENSMUSG00000055493

Gene Name

epilepsy, progressive myoclonic epilepsy, type 2 gene alpha

Synonyms

laforin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

IGL02612

Quality Score

Status

Chromosome

Chromosomal Location

11219148-11335388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 11332980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 271 (R271H)

Ref Sequence

ENSEMBL: ENSMUSP00000066050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069106]

AlphaFold

Q9WUA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000069106
AA Change: R271H

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

SMART Domains

Protein: ENSMUSP00000066050
Gene: ENSMUSG00000055493
AA Change: R271H

Domain	Start	End	E-Value	Type
CBM_2	4	115	4.89e-14	SMART
Pfam:DSPc	163	314	1.9e-15	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit behavioral deficits, ataxia, myoclonus epilepsy, and widespread degeneration of neurons in the presence of only a few small Lafora inclusions, providing a putative mouse model of human Lafora disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,654,971 (GRCm39)	M1432L	probably benign	Het
Alg11	A	G	8: 22,551,999 (GRCm39)	R48G	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Bmp4	T	A	14: 46,621,938 (GRCm39)	D202V	probably damaging	Het
Car12	T	G	9: 66,669,706 (GRCm39)	L300R	probably damaging	Het
Cdc37l1	T	A	19: 28,993,502 (GRCm39)	*336R	probably null	Het
Cep89	A	G	7: 35,124,080 (GRCm39)		probably null	Het
Ces3b	T	A	8: 105,811,901 (GRCm39)	D103E	possibly damaging	Het
Chd5	A	G	4: 152,445,033 (GRCm39)	D338G	probably damaging	Het
Crot	A	G	5: 9,019,945 (GRCm39)	C466R	probably damaging	Het
Dach2	T	C	X: 112,660,101 (GRCm39)	M194T	probably benign	Het
Dmrtc1b	A	G	X: 101,756,873 (GRCm39)	D100G	probably benign	Het
Fem1c	G	T	18: 46,638,781 (GRCm39)	T407K	probably benign	Het
Fer1l4	T	C	2: 155,889,848 (GRCm39)	Y273C	probably damaging	Het
Foxc2	C	A	8: 121,844,576 (GRCm39)	A408E	probably benign	Het
Gbp10	A	T	5: 105,366,368 (GRCm39)	M512K	possibly damaging	Het
Gm5134	T	C	10: 75,828,323 (GRCm39)	L301P	probably damaging	Het
Grk3	A	T	5: 113,117,100 (GRCm39)	D100E	probably benign	Het
Gsdma3	T	A	11: 98,526,707 (GRCm39)	D322E	probably damaging	Het
Gucy1a2	C	A	9: 3,894,556 (GRCm39)	L680I	possibly damaging	Het
Ighv7-2	T	C	12: 113,875,766 (GRCm39)	Y79C	probably damaging	Het
Igkv4-50	T	C	6: 69,678,024 (GRCm39)	T27A	probably benign	Het
Ints2	T	C	11: 86,106,404 (GRCm39)	D1002G	probably damaging	Het
Map4k5	T	A	12: 69,896,358 (GRCm39)	I169F	possibly damaging	Het
Mink1	T	C	11: 70,488,052 (GRCm39)	V39A	probably damaging	Het
Mms22l	T	A	4: 24,508,482 (GRCm39)	H301Q	probably benign	Het
Myh4	C	T	11: 67,147,305 (GRCm39)	T1650I	probably benign	Het
Or52n4	A	T	7: 104,293,870 (GRCm39)	D234E	probably benign	Het
Or8b37	T	A	9: 37,958,662 (GRCm39)	L48Q	probably damaging	Het
Or8b44	T	C	9: 38,410,769 (GRCm39)	M268T	probably benign	Het
Pate10	T	C	9: 35,653,460 (GRCm39)	I88T	possibly damaging	Het
Pbxip1	C	T	3: 89,350,988 (GRCm39)	T117M	probably damaging	Het
Pgghg	C	T	7: 140,526,251 (GRCm39)	T572M	probably damaging	Het
Phactr2	G	A	10: 13,121,167 (GRCm39)	T511I	probably damaging	Het
Pip5k1a	T	C	3: 94,974,724 (GRCm39)	I385V	probably benign	Het
Pwp2	A	G	10: 78,018,828 (GRCm39)	C60R	probably damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rttn	G	T	18: 88,991,750 (GRCm39)	D110Y	probably damaging	Het
Setbp1	G	T	18: 78,798,925 (GRCm39)	H1418Q	probably damaging	Het
Sf3b3	T	C	8: 111,569,608 (GRCm39)	I37V	probably benign	Het
Slc27a6	A	T	18: 58,689,977 (GRCm39)	I148F	probably benign	Het
Slmap	A	G	14: 26,180,621 (GRCm39)		probably benign	Het
Speer4a3	A	C	5: 26,156,614 (GRCm39)	Y122D	probably benign	Het
Stil	A	G	4: 114,880,893 (GRCm39)	Q479R	possibly damaging	Het
Svop	A	G	5: 114,166,321 (GRCm39)	*549Q	probably null	Het
Tnks	C	T	8: 35,316,453 (GRCm39)	V889I	possibly damaging	Het
Tnrc6c	T	A	11: 117,633,826 (GRCm39)	V1308E	possibly damaging	Het
Vmn1r208	C	A	13: 22,956,993 (GRCm39)	C168F	probably damaging	Het
Vmn2r117	A	T	17: 23,678,758 (GRCm39)	M822K	possibly damaging	Het
Vwa8	A	G	14: 79,420,552 (GRCm39)	N1751S	probably benign	Het
Vwde	A	T	6: 13,187,148 (GRCm39)	F780I	probably damaging	Het
Washc2	T	C	6: 116,197,577 (GRCm39)	I184T	possibly damaging	Het
Wdr26	A	T	1: 181,005,361 (GRCm39)		probably benign	Het
Zfp608	G	A	18: 55,031,273 (GRCm39)	T889M	probably damaging	Het
Zfp955a	G	T	17: 33,463,039 (GRCm39)	Q31K	probably damaging	Het
Zpbp2	T	C	11: 98,446,343 (GRCm39)	L145S	probably benign	Het

Other mutations in Epm2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Epm2a	APN	10	11,324,384 (GRCm39)	critical splice acceptor site	probably null
IGL01925:Epm2a	APN	10	11,324,502 (GRCm39)	missense	possibly damaging	0.93
IGL03052:Epm2a	UTSW	10	11,332,974 (GRCm39)	missense	possibly damaging	0.95
R1432:Epm2a	UTSW	10	11,266,587 (GRCm39)	missense	probably damaging	0.99
R1716:Epm2a	UTSW	10	11,324,580 (GRCm39)	missense	probably benign	0.31
R1785:Epm2a	UTSW	10	11,219,426 (GRCm39)	missense	probably benign
R2132:Epm2a	UTSW	10	11,219,426 (GRCm39)	missense	probably benign
R2133:Epm2a	UTSW	10	11,219,426 (GRCm39)	missense	probably benign
R3715:Epm2a	UTSW	10	11,219,420 (GRCm39)	missense	probably benign	0.01
R4794:Epm2a	UTSW	10	11,266,597 (GRCm39)	missense	probably benign	0.01
R5222:Epm2a	UTSW	10	11,324,493 (GRCm39)	missense	probably damaging	0.99
R5254:Epm2a	UTSW	10	11,333,089 (GRCm39)	missense	probably benign	0.00
R6608:Epm2a	UTSW	10	11,266,731 (GRCm39)	critical splice donor site	probably null
R6941:Epm2a	UTSW	10	11,266,829 (GRCm39)	splice site	probably null
R7211:Epm2a	UTSW	10	11,219,419 (GRCm39)	missense	probably benign	0.00
R7440:Epm2a	UTSW	10	11,266,619 (GRCm39)	nonsense	probably null
R7740:Epm2a	UTSW	10	11,266,684 (GRCm39)	missense	possibly damaging	0.73
R9447:Epm2a	UTSW	10	11,324,432 (GRCm39)	missense	possibly damaging	0.80

Posted On

2015-04-16