Mutagenetix > Incidental Mutation

Incidental Mutation 'R5254:Epm2a'

399372

Institutional Source

Beutler Lab

Gene Symbol

Epm2a

Ensembl Gene

ENSMUSG00000055493

Gene Name

epilepsy, progressive myoclonic epilepsy, type 2 gene alpha

Synonyms

laforin

MMRRC Submission

042825-MU

Accession Numbers

Essential gene?

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

Stock #

R5254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11219148-11335388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 11333089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 307 (D307E)

Ref Sequence

ENSEMBL: ENSMUSP00000066050 (fasta)

Gene Model

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

AlphaFold

Q9WUA5

Predicted Effect

probably benign
Transcript: ENSMUST00000069106
AA Change: D307E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000066050
Gene: ENSMUSG00000055493
AA Change: D307E

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,911,042 (GRCm39)	C296*	probably null	Het
Adam11	T	A	11: 102,665,098 (GRCm39)	Y413*	probably null	Het
Ankhd1	A	G	18: 36,789,768 (GRCm39)	I907V	probably benign	Het
Arrdc5	A	G	17: 56,604,897 (GRCm39)	I130T	probably benign	Het
Asic5	T	A	3: 81,928,294 (GRCm39)	I419K	probably damaging	Het
Atp4a	A	T	7: 30,414,955 (GRCm39)	E248V	probably damaging	Het
Avil	C	A	10: 126,847,630 (GRCm39)	V154L	probably benign	Het
Bclaf1	T	A	10: 20,199,282 (GRCm39)	H226Q	possibly damaging	Het
Cald1	A	G	6: 34,723,351 (GRCm39)		probably benign	Het
Cd200r4	A	C	16: 44,652,453 (GRCm39)	D27A	possibly damaging	Het
Cdsn	T	A	17: 35,863,099 (GRCm39)	M1K	probably null	Het
Cfap46	T	A	7: 139,258,430 (GRCm39)	H281L	possibly damaging	Het
Chaf1a	T	C	17: 56,369,606 (GRCm39)	F533L	probably benign	Het
Chil4	T	A	3: 106,126,768 (GRCm39)	I5F	probably benign	Het
Ctu2	A	T	8: 123,203,327 (GRCm39)	R48W	probably damaging	Het
Daam1	A	T	12: 71,993,350 (GRCm39)	H373L	unknown	Het
Dcaf10	T	A	4: 45,370,415 (GRCm39)	Y328N	possibly damaging	Het
Dst	A	T	1: 34,217,012 (GRCm39)	K1151*	probably null	Het
Ect2	T	C	3: 27,184,219 (GRCm39)	D503G	probably damaging	Het
Exph5	A	T	9: 53,249,230 (GRCm39)	D73V	probably damaging	Het
Fam20b	C	T	1: 156,533,310 (GRCm39)	G102D	probably damaging	Het
Fat2	T	C	11: 55,172,001 (GRCm39)	N2904S	probably damaging	Het
Flt3	T	A	5: 147,312,500 (GRCm39)	Q147L	possibly damaging	Het
Fndc11	A	G	2: 180,863,956 (GRCm39)	T254A	possibly damaging	Het
Galnt15	C	T	14: 31,780,244 (GRCm39)	R514*	probably null	Het
Gbgt1	A	G	2: 28,395,220 (GRCm39)	D286G	probably damaging	Het
Ggt1	T	A	10: 75,415,032 (GRCm39)		probably null	Het
Gm26526	A	T	7: 39,238,658 (GRCm39)		noncoding transcript	Het
H2-K2	T	C	17: 34,216,436 (GRCm39)	T237A	probably damaging	Het
Igf1r	T	A	7: 67,857,067 (GRCm39)	S1010T	probably damaging	Het
Il21	T	C	3: 37,281,884 (GRCm39)	T87A	possibly damaging	Het
Kmt2b	G	A	7: 30,268,600 (GRCm39)	R2010C	probably damaging	Het
Kmt2c	G	A	5: 25,519,592 (GRCm39)	P2173S	probably benign	Het
Krt1	A	T	15: 101,754,803 (GRCm39)	S512T	unknown	Het
Krtap16-1	G	A	11: 99,876,424 (GRCm39)	R327*	probably null	Het
Lama1	T	A	17: 68,063,711 (GRCm39)	I745N	probably benign	Het
Lrrk1	T	A	7: 65,956,855 (GRCm39)	N372I	probably benign	Het
Lyst	A	T	13: 13,857,655 (GRCm39)	E2481D	probably benign	Het
Map2k1	A	T	9: 64,095,027 (GRCm39)		probably benign	Het
Mbip	A	G	12: 56,384,228 (GRCm39)	V215A	probably damaging	Het
Mdc1	T	A	17: 36,158,814 (GRCm39)	V398D	probably benign	Het
Mog	T	G	17: 37,323,264 (GRCm39)	I225L	probably benign	Het
Mrgprx3-ps	T	A	7: 46,959,184 (GRCm39)		noncoding transcript	Het
Muc5b	C	T	7: 141,418,277 (GRCm39)	S3741L	probably benign	Het
Myo5a	A	T	9: 75,037,402 (GRCm39)	I202F	probably damaging	Het
Myo5b	A	T	18: 74,833,677 (GRCm39)	I818F	possibly damaging	Het
Nfia	T	A	4: 97,902,534 (GRCm39)	M262K	probably damaging	Het
Nisch	C	T	14: 30,928,524 (GRCm39)		probably null	Het
Nkd1	A	G	8: 89,315,822 (GRCm39)	D64G	probably damaging	Het
Nt5c2	T	A	19: 46,881,999 (GRCm39)	K284*	probably null	Het
Or14a259	A	T	7: 86,013,398 (GRCm39)	V49E	possibly damaging	Het
Or4k15b	C	A	14: 50,272,135 (GRCm39)	A242S	possibly damaging	Het
Or4l1	A	T	14: 50,166,236 (GRCm39)	I255N	probably damaging	Het
Or52z14	T	G	7: 103,252,996 (GRCm39)	I45R	probably benign	Het
Or5an1c	A	G	19: 12,218,612 (GRCm39)	S138P	probably damaging	Het
Or5j3	A	T	2: 86,128,265 (GRCm39)	Y35F	probably damaging	Het
Or8g55	A	T	9: 39,784,741 (GRCm39)	T57S	possibly damaging	Het
Or8k24	A	T	2: 86,216,484 (GRCm39)	S93T	possibly damaging	Het
Pcdhb17	A	T	18: 37,619,878 (GRCm39)	D556V	probably damaging	Het
Pcdhga8	A	T	18: 37,859,673 (GRCm39)	D243V	probably benign	Het
Polq	A	T	16: 36,909,681 (GRCm39)	Q2355L	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc5a4a	C	A	10: 76,018,572 (GRCm39)	Y506*	probably null	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Tarbp1	G	A	8: 127,193,895 (GRCm39)	H336Y	probably damaging	Het
Tas2r134	T	G	2: 51,517,559 (GRCm39)	F13V	probably benign	Het
Tgfb2	A	G	1: 186,436,680 (GRCm39)	Y98H	probably damaging	Het
Tmprss11a	C	A	5: 86,559,665 (GRCm39)	V376L	probably damaging	Het
Tmprss11f	T	A	5: 86,685,892 (GRCm39)	K158N	probably benign	Het
Tnip2	G	T	5: 34,660,922 (GRCm39)	Q177K	probably damaging	Het
Trp53inp1	T	A	4: 11,165,075 (GRCm39)		probably null	Het
Ttc28	C	T	5: 111,419,104 (GRCm39)	P1398S	probably benign	Het
Umodl1	T	G	17: 31,199,333 (GRCm39)	I308S	possibly damaging	Het
Vcan	A	T	13: 89,839,719 (GRCm39)	S1942T	probably damaging	Het
Vmn2r124	T	A	17: 18,283,339 (GRCm39)	N344K	probably benign	Het
Vmn2r25	C	G	6: 123,802,277 (GRCm39)	C542S	probably damaging	Het
Wiz	T	A	17: 32,597,470 (GRCm39)		probably benign	Het
Wrap73	A	G	4: 154,239,803 (GRCm39)	Y343C	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
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
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
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'- TTCTCTAGGCCGAGTGCAGATG -3'
(R):5'- ATAGAGGGCATCTCCAGGTG -3'

Sequencing Primer
(F):5'- AGGCTGTGTGTCTCCTGCAC -3'
(R):5'- GCATCTCCAGGTGACACCAG -3'

Posted On

2016-07-06