Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Epm2a'

368862

Institutional Source

Beutler Lab

Gene Symbol

Epm2a

Ensembl Gene

ENSMUSG00000055493

Gene Name

epilepsy, progressive myoclonic epilepsy, type 2 gene alpha

Synonyms

laforin

MMRRC Submission

042420-MU

Accession Numbers

Essential gene?

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

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11219148-11335388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11266597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 114 (D114G)

Ref Sequence

ENSEMBL: ENSMUSP00000066050 (fasta)

Gene Model

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

AlphaFold

Q9WUA5

Predicted Effect

probably benign
Transcript: ENSMUST00000069106
AA Change: D114G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000066050
Gene: ENSMUSG00000055493
AA Change: D114G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161438

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161946

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,198 (GRCm39)	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,459,978 (GRCm39)	E537G	probably damaging	Het
Asic3	C	T	5: 24,620,895 (GRCm39)	A259V	probably damaging	Het
Bcar1	G	A	8: 112,447,552 (GRCm39)	Q142*	probably null	Het
Bcas3	T	C	11: 85,400,294 (GRCm39)	V200A	probably damaging	Het
Cd302	A	T	2: 60,102,493 (GRCm39)	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984 (GRCm39)	N387K	probably damaging	Het
Copa	T	A	1: 171,946,888 (GRCm39)	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,038,059 (GRCm39)	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,171,420 (GRCm39)	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,153,199 (GRCm39)	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,862,300 (GRCm39)	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,761,003 (GRCm39)	Y114F	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Exoc5	T	C	14: 49,286,357 (GRCm39)		probably null	Het
Fam135a	G	A	1: 24,068,241 (GRCm39)	T706I	probably benign	Het
Fasn	A	G	11: 120,702,121 (GRCm39)	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,595 (GRCm39)	E255G	probably damaging	Het
Galnt7	A	T	8: 57,998,397 (GRCm39)	Y311N	probably damaging	Het
Grid1	T	C	14: 34,544,579 (GRCm39)	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933 (GRCm39)	F331L	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif1a	T	C	1: 92,953,449 (GRCm39)	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,806,707 (GRCm39)	F1022L	probably damaging	Het
Med16	G	T	10: 79,735,951 (GRCm39)	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,439,155 (GRCm39)		probably benign	Het
Myh7b	G	A	2: 155,465,186 (GRCm39)	V681I	probably benign	Het
Ndc1	A	G	4: 107,247,419 (GRCm39)	E409G	probably benign	Het
Necap2	A	G	4: 140,798,912 (GRCm39)		probably benign	Het
Or2a57	T	A	6: 43,212,629 (GRCm39)	L29H	probably damaging	Het
Or4p21	A	T	2: 88,276,691 (GRCm39)	M197K	probably benign	Het
Or7g29	C	T	9: 19,286,841 (GRCm39)	S112N	probably benign	Het
Parp12	G	A	6: 39,094,744 (GRCm39)	T117I	probably benign	Het
Pars2	C	A	4: 106,511,407 (GRCm39)	C396*	probably null	Het
Prg4	A	T	1: 150,330,297 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,114,492 (GRCm39)	T523I	probably damaging	Het
Prph	T	A	15: 98,955,308 (GRCm39)	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,567,552 (GRCm39)	Y549H	probably damaging	Het
Rbm12	A	T	2: 155,937,489 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,549,183 (GRCm39)	Y75C	probably damaging	Het
Rock2	G	A	12: 16,990,408 (GRCm39)	R110H	probably damaging	Het
Samd1	G	A	8: 84,726,346 (GRCm39)	E468K	probably damaging	Het
Samd11	T	A	4: 156,333,922 (GRCm39)	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,065,151 (GRCm39)	G37V	probably damaging	Het
Sf1	C	A	19: 6,425,694 (GRCm39)		probably benign	Het
Slc17a5	T	A	9: 78,481,997 (GRCm39)	H183L	probably damaging	Het
Slco1a7	A	G	6: 141,713,288 (GRCm39)	V31A	probably benign	Het
Smgc	T	A	15: 91,725,657 (GRCm39)	S13T	probably benign	Het
Snapin	A	G	3: 90,398,092 (GRCm39)		probably benign	Het
Spata31e4	C	G	13: 50,857,275 (GRCm39)	P971R	probably benign	Het
Ssc5d	C	T	7: 4,946,744 (GRCm39)	P1033S	probably benign	Het
Strn3	T	C	12: 51,696,954 (GRCm39)	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,072,932 (GRCm39)	F238L	possibly damaging	Het
Tbck	G	A	3: 132,392,729 (GRCm39)	V57M	possibly damaging	Het
Tgm3	A	G	2: 129,883,875 (GRCm39)	D511G	probably benign	Het
Tlr5	T	C	1: 182,801,461 (GRCm39)	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,887,754 (GRCm39)		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,335,047 (GRCm39)	C168Y	probably damaging	Het
Tph2	G	T	10: 115,018,675 (GRCm39)	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,551,702 (GRCm39)		probably null	Het
Ttc14	A	T	3: 33,857,298 (GRCm39)	M215L	probably benign	Het
Ube3c	A	G	5: 29,802,083 (GRCm39)	N120S	probably benign	Het
Ubr2	A	T	17: 47,241,371 (GRCm39)	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,776,602 (GRCm39)	T318A	probably benign	Het
Washc2	T	C	6: 116,235,610 (GRCm39)	V941A	probably benign	Het
Wdfy3	A	G	5: 102,091,809 (GRCm39)	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,693,188 (GRCm39)	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,236,862 (GRCm39)	D537A	probably benign	Het
Zfp57	A	G	17: 37,321,022 (GRCm39)	N292S	possibly damaging	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
IGL02612:Epm2a	APN	10	11,332,980 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCCAATTTTCTCTGACTGTAGCCAG -3'
(R):5'- ACTCAGTGAAATCTCCATTGTCC -3'

Sequencing Primer
(F):5'- CAGTTTCATTTTGTGATTAAGCAGGC -3'
(R):5'- AGTGAAATCTCCATTGTCCTAGCAC -3'

Posted On

2016-02-04