Incidental Mutation 'R6941:Epm2a'
ID 540553
Institutional Source Beutler Lab
Gene Symbol Epm2a
Ensembl Gene ENSMUSG00000055493
Gene Name epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
Synonyms laforin
MMRRC Submission 045055-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R6941 (G1)
Quality Score 149.008
Status Not validated
Chromosome 10
Chromosomal Location 11219148-11335388 bp(+) (GRCm39)
Type of Mutation splice site (100 bp from exon)
DNA Base Change (assembly) A to G at 11266829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069106]
AlphaFold Q9WUA5
Predicted Effect probably null
Transcript: ENSMUST00000069106
SMART Domains Protein: ENSMUSP00000066050
Gene: ENSMUSG00000055493

DomainStartEndE-ValueType
CBM_2 4 115 4.89e-14 SMART
Pfam:DSPc 163 314 1.9e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.0%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,140,370 (GRCm39) I1557F probably damaging Het
Acad10 A T 5: 121,787,420 (GRCm39) D176E probably damaging Het
Acta2 A T 19: 34,229,922 (GRCm39) V11E probably damaging Het
Ampd2 T C 3: 107,986,609 (GRCm39) H225R probably damaging Het
Arfgef3 A G 10: 18,501,203 (GRCm39) Y1016H possibly damaging Het
Atg7 C T 6: 114,650,639 (GRCm39) T83M possibly damaging Het
AU018091 A G 7: 3,209,267 (GRCm39) probably null Het
Birc2 A G 9: 7,819,469 (GRCm39) V481A probably benign Het
Cabp1 A T 5: 115,310,960 (GRCm39) D295E probably damaging Het
Cd180 A T 13: 102,842,699 (GRCm39) T582S probably benign Het
Cnksr3 A G 10: 7,076,758 (GRCm39) S145P probably damaging Het
Ddx27 A G 2: 166,857,297 (GRCm39) D15G possibly damaging Het
Dsc1 T C 18: 20,230,246 (GRCm39) Y353C probably benign Het
Dsg1c C T 18: 20,400,980 (GRCm39) T161I probably damaging Het
Fat2 T C 11: 55,152,914 (GRCm39) H3766R probably benign Het
Fjx1 A G 2: 102,280,903 (GRCm39) V344A probably benign Het
Frmd3 A G 4: 74,016,363 (GRCm39) I93V probably benign Het
Gbe1 TAGTAAGAGT TAGT 16: 70,230,444 (GRCm39) probably benign Het
Gdf15 A G 8: 71,082,794 (GRCm39) L104P possibly damaging Het
Glra3 G A 8: 56,393,961 (GRCm39) R24Q probably benign Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Ighv1-9 A T 12: 114,547,448 (GRCm39) M31K probably benign Het
Ipmk G A 10: 71,183,920 (GRCm39) G47S probably null Het
Itsn2 T C 12: 4,679,641 (GRCm39) I150T probably benign Het
Kcnq5 T C 1: 21,476,068 (GRCm39) Y545C probably damaging Het
Klk1b8 C A 7: 43,602,213 (GRCm39) H48Q possibly damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc34 T C 3: 30,678,969 (GRCm39) Y376C probably benign Het
Mast4 A T 13: 102,941,222 (GRCm39) D278E probably damaging Het
Mtmr3 T C 11: 4,437,505 (GRCm39) Y982C possibly damaging Het
Ndst4 T G 3: 125,403,160 (GRCm39) H422Q possibly damaging Het
Nek7 T C 1: 138,430,376 (GRCm39) E206G probably damaging Het
Nufip2 CCAGCAGCAGCAGCAGCAGCAG CCAGCAGCAGCAGCAGCAG 11: 77,577,122 (GRCm39) probably benign Het
Or5b99 T A 19: 12,976,861 (GRCm39) N170K possibly damaging Het
Pglyrp2 T C 17: 32,635,048 (GRCm39) Y438C probably damaging Het
Pigr G T 1: 130,775,064 (GRCm39) W497L probably damaging Het
Pkd2l2 G T 18: 34,549,936 (GRCm39) V194L probably benign Het
Ppp1r16b A T 2: 158,538,068 (GRCm39) K5M probably damaging Het
Psat1 A T 19: 15,898,307 (GRCm39) S35R probably damaging Het
Qrfprl G A 6: 65,424,385 (GRCm39) M126I probably damaging Het
Rab11fip1 G A 8: 27,646,303 (GRCm39) Q258* probably null Het
Rad51d A G 11: 82,780,623 (GRCm39) L53P probably damaging Het
Rell2 G A 18: 38,091,341 (GRCm39) A169T probably benign Het
Rnf19b T C 4: 128,976,572 (GRCm39) I545T probably benign Het
Slc12a1 G T 2: 125,055,999 (GRCm39) E843D possibly damaging Het
Slc1a4 A G 11: 20,254,346 (GRCm39) S507P probably damaging Het
Slc6a1 G A 6: 114,290,473 (GRCm39) W316* probably null Het
Spesp1 A G 9: 62,180,152 (GRCm39) L252P probably damaging Het
Sphkap G A 1: 83,385,811 (GRCm39) probably benign Het
Srcap A G 7: 127,141,769 (GRCm39) T1850A probably damaging Het
Supv3l1 T C 10: 62,266,365 (GRCm39) T604A possibly damaging Het
Tacr1 A G 6: 82,380,846 (GRCm39) T86A possibly damaging Het
Tenm3 T C 8: 49,127,451 (GRCm39) R76G probably damaging Het
Tmprss6 C A 15: 78,330,977 (GRCm39) A419S probably damaging Het
Usp54 T G 14: 20,612,177 (GRCm39) I880L probably benign Het
Wwp2 T A 8: 108,275,134 (GRCm39) V377D probably damaging Het
Zfp735 A T 11: 73,581,159 (GRCm39) E65D probably benign Het
Zfy2 T C Y: 2,121,491 (GRCm39) E134G probably benign Het
Other mutations in Epm2a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGAGGACAACTTGGTGGATG -3'
(R):5'- AATGTGACCTGGGGCATATTAGAG -3'

Sequencing Primer
(F):5'- ACACTGGATTGAGGCCACTG -3'
(R):5'- CCTGGGGCATATTAGAGCAATC -3'
Posted On 2018-11-06