Incidental Mutation 'IGL00596:Epm2a'
ID 4770
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 # IGL00596
Quality Score
Status
Chromosome 10
Chromosomal Location 11219148-11335388 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 11324384 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161438
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G T 6: 128,547,030 (GRCm39) N366K probably damaging Het
Adgrl3 G A 5: 81,794,314 (GRCm39) R445Q probably benign Het
Cc2d1b T C 4: 108,484,503 (GRCm39) I446T probably damaging Het
Cdhr2 A T 13: 54,868,810 (GRCm39) N591Y probably damaging Het
Cntnap5b A G 1: 100,306,886 (GRCm39) R868G possibly damaging Het
Dkk2 A T 3: 131,879,564 (GRCm39) D81V probably damaging Het
Dsg1c T A 18: 20,414,899 (GRCm39) probably benign Het
Dym T A 18: 75,252,320 (GRCm39) V362D probably benign Het
Grid2 G T 6: 64,510,688 (GRCm39) A773S possibly damaging Het
Iars2 A G 1: 185,048,151 (GRCm39) V527A probably benign Het
Kcnj16 T C 11: 110,915,349 (GRCm39) Y4H probably damaging Het
Krt6a T A 15: 101,602,665 (GRCm39) I7F possibly damaging Het
Myo6 T G 9: 80,189,025 (GRCm39) F757V possibly damaging Het
Nbeal1 T C 1: 60,220,900 (GRCm39) L13P probably damaging Het
Nr2c2 A T 6: 92,126,700 (GRCm39) K63M probably damaging Het
Pcdh15 G A 10: 74,466,576 (GRCm39) G1511D probably benign Het
Pomgnt2 A T 9: 121,812,191 (GRCm39) W197R probably benign Het
Rint1 G A 5: 24,016,863 (GRCm39) V543M probably damaging Het
Rnd2 G A 11: 101,362,017 (GRCm39) R190H possibly damaging Het
Sh3rf3 A G 10: 58,885,178 (GRCm39) S354G probably benign Het
Slc10a2 T C 8: 5,141,680 (GRCm39) I235V probably benign Het
Steap4 G A 5: 8,026,979 (GRCm39) R314H probably damaging Het
Ticrr A C 7: 79,327,041 (GRCm39) N583T probably damaging Het
Tmem25 T A 9: 44,706,816 (GRCm39) probably benign Het
Vps8 C T 16: 21,267,162 (GRCm39) probably benign Het
Xirp2 A G 2: 67,345,226 (GRCm39) K2489R probably benign Het
Xlr4b T A X: 72,263,577 (GRCm39) probably benign Het
Other mutations in Epm2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20