|Institutional Source||Beutler Lab|
|Gene Name||epilepsy, progressive myoclonic epilepsy, type 2 gene alpha|
|Synonyms||TG-B, laforin, Tg(TcraK,TcrbK)TG-BFlv|
|Is this an essential gene?||Probably non essential (E-score: 0.242)|
|Stock #||R5222 (G1)|
|Chromosomal Location||11343404-11459644 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 11448749 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Glycine at position 194 (E194G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066050 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000069106]|
AA Change: E194G
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: E194G
|Meta Mutation Damage Score||0.6390|
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
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||
|Other mutations in Epm2a||
(F):5'- AATCCAGCCTTATCAGATTGGAAG -3'
(R):5'- AGCAAATTCAGCAAGGAATCCG -3'
(F):5'- GCCTTATCAGATTGGAAGATGAATTG -3'
(R):5'- CAAGGAATCCGAGTGCTACTTCTG -3'