Incidental Mutation 'R7262:Epm2aip1'
ID 564691
Institutional Source Beutler Lab
Gene Symbol Epm2aip1
Ensembl Gene ENSMUSG00000046785
Gene Name EPM2A interacting protein 1
Synonyms A930003G21Rik, EPM2A (laforin) interacting protein 1
MMRRC Submission 045353-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R7262 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 111100997-111108161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111101728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 234 (T234A)
Ref Sequence ENSEMBL: ENSMUSP00000120245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035079] [ENSMUST00000060711] [ENSMUST00000135218] [ENSMUST00000135807]
AlphaFold Q8VEH5
Predicted Effect probably benign
Transcript: ENSMUST00000035079
SMART Domains Protein: ENSMUSP00000035079
Gene: ENSMUSG00000032498

DomainStartEndE-ValueType
HATPase_c 23 158 4.57e-1 SMART
DNA_mis_repair 216 335 1.08e-44 SMART
low complexity region 363 375 N/A INTRINSIC
low complexity region 429 454 N/A INTRINSIC
Pfam:Mlh1_C 504 760 8.3e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060711
AA Change: T234A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000135218
Predicted Effect probably benign
Transcript: ENSMUST00000135807
AA Change: T234A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Meta Mutation Damage Score 0.1108 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit increased anxiety-related response, decreased liver glycogen storage and synthesis, hepatic steatosis, improved glucose tolerance and decreased hepatic insulin resistance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,946,137 (GRCm39) probably null Het
Adh5 C A 3: 138,151,133 (GRCm39) A32D possibly damaging Het
Ap1m2 A G 9: 21,213,762 (GRCm39) I295T possibly damaging Het
B230104I21Rik T C 4: 154,434,091 (GRCm39) S92P unknown Het
Carnmt1 A T 19: 18,655,228 (GRCm39) N127I probably benign Het
Ccdc42 A G 11: 68,485,399 (GRCm39) T106A probably damaging Het
Cdcp1 T C 9: 123,002,680 (GRCm39) E797G probably damaging Het
Cep112 T A 11: 108,555,467 (GRCm39) V821D probably damaging Het
Cpvl A T 6: 53,909,500 (GRCm39) V212D probably damaging Het
Cttnbp2nl A T 3: 104,940,062 (GRCm39) N2K probably damaging Het
Cyp2c69 T C 19: 39,875,176 (GRCm39) probably benign Het
Cyp2u1 T C 3: 131,091,605 (GRCm39) D305G probably damaging Het
Dab2ip A G 2: 35,512,298 (GRCm39) probably null Het
Ddx55 T C 5: 124,704,919 (GRCm39) L396P probably benign Het
Dhx34 G A 7: 15,937,623 (GRCm39) A786V probably benign Het
Efcab3 G A 11: 104,745,432 (GRCm39) probably null Het
Ehbp1l1 A T 19: 5,768,474 (GRCm39) L943* probably null Het
Flot2 T C 11: 77,948,175 (GRCm39) M145T probably damaging Het
Fn3k T C 11: 121,339,741 (GRCm39) F168L probably damaging Het
Gmfb A T 14: 47,052,386 (GRCm39) C87S probably damaging Het
H2-M3 T C 17: 37,582,084 (GRCm39) F180S probably damaging Het
Havcr2 C T 11: 46,360,388 (GRCm39) T205I probably benign Het
Hdac3 C T 18: 38,078,616 (GRCm39) C123Y probably damaging Het
Itpk1 T C 12: 102,641,712 (GRCm39) E37G possibly damaging Het
Jmjd7 A G 2: 119,862,467 (GRCm39) H283R probably benign Het
Kif26b T C 1: 178,745,219 (GRCm39) S1772P possibly damaging Het
Klhl6 T C 16: 19,801,546 (GRCm39) T70A probably damaging Het
Kntc1 C A 5: 123,925,036 (GRCm39) D1116E probably benign Het
Lama4 T A 10: 38,970,930 (GRCm39) H1498Q probably damaging Het
Lamp1 A T 8: 13,217,296 (GRCm39) T102S probably benign Het
Lrp8 A G 4: 107,704,661 (GRCm39) N168D probably benign Het
Ltbp1 G T 17: 75,671,363 (GRCm39) D1515Y probably damaging Het
Obscn A G 11: 59,006,715 (GRCm39) V1149A probably damaging Het
Or10q1 A T 19: 13,726,535 (GRCm39) T22S probably benign Het
Or4f6 A G 2: 111,838,902 (GRCm39) S210P probably damaging Het
Or52ad1 T C 7: 102,995,764 (GRCm39) R124G probably damaging Het
Pak4 C A 7: 28,264,625 (GRCm39) M92I possibly damaging Het
Pam T C 1: 97,782,448 (GRCm39) K157R Het
Pcdh9 A T 14: 93,253,141 (GRCm39) V1174E probably benign Het
Phf8-ps G A 17: 33,285,971 (GRCm39) T277I probably damaging Het
Ppp1r3a T C 6: 14,719,069 (GRCm39) D615G probably benign Het
Senp1 A T 15: 97,964,379 (GRCm39) D278E probably benign Het
Serpinc1 A G 1: 160,817,229 (GRCm39) N108D probably damaging Het
Srl C A 16: 4,315,415 (GRCm39) A76S probably damaging Het
Tbc1d16 C A 11: 119,045,921 (GRCm39) V509L probably benign Het
Tbc1d24 A G 17: 24,426,820 (GRCm39) F357S probably damaging Het
Tcaf3 A G 6: 42,570,735 (GRCm39) L339P probably damaging Het
Tmem232 A T 17: 65,807,112 (GRCm39) I27N probably benign Het
Ubr2 T C 17: 47,311,665 (GRCm39) D62G probably damaging Het
Vcan T G 13: 89,853,280 (GRCm39) D560A possibly damaging Het
Vmn2r80 T A 10: 79,005,579 (GRCm39) N405K probably damaging Het
Wdhd1 A T 14: 47,489,430 (GRCm39) I701K probably benign Het
Other mutations in Epm2aip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Epm2aip1 APN 9 111,101,855 (GRCm39) missense possibly damaging 0.89
IGL01309:Epm2aip1 APN 9 111,102,596 (GRCm39) missense probably benign 0.01
IGL02815:Epm2aip1 APN 9 111,102,628 (GRCm39) missense probably benign
Lafora UTSW 9 111,101,624 (GRCm39) missense probably damaging 1.00
G1citation:Epm2aip1 UTSW 9 111,101,624 (GRCm39) missense probably damaging 1.00
R0066:Epm2aip1 UTSW 9 111,101,531 (GRCm39) missense probably benign
R0066:Epm2aip1 UTSW 9 111,101,531 (GRCm39) missense probably benign
R0548:Epm2aip1 UTSW 9 111,102,409 (GRCm39) missense probably damaging 1.00
R0854:Epm2aip1 UTSW 9 111,101,567 (GRCm39) nonsense probably null
R1497:Epm2aip1 UTSW 9 111,101,315 (GRCm39) missense possibly damaging 0.92
R4012:Epm2aip1 UTSW 9 111,101,458 (GRCm39) missense probably benign 0.41
R4722:Epm2aip1 UTSW 9 111,101,152 (GRCm39) small deletion probably benign
R4741:Epm2aip1 UTSW 9 111,101,681 (GRCm39) missense probably benign 0.06
R4834:Epm2aip1 UTSW 9 111,102,262 (GRCm39) missense probably benign 0.13
R5037:Epm2aip1 UTSW 9 111,101,218 (GRCm39) missense probably benign 0.00
R5045:Epm2aip1 UTSW 9 111,102,427 (GRCm39) missense possibly damaging 0.95
R5174:Epm2aip1 UTSW 9 111,102,455 (GRCm39) missense probably damaging 1.00
R6822:Epm2aip1 UTSW 9 111,101,624 (GRCm39) missense probably damaging 1.00
R7472:Epm2aip1 UTSW 9 111,101,467 (GRCm39) missense probably damaging 1.00
R7693:Epm2aip1 UTSW 9 111,101,443 (GRCm39) missense probably benign
R7860:Epm2aip1 UTSW 9 111,101,105 (GRCm39) missense probably damaging 1.00
R8987:Epm2aip1 UTSW 9 111,101,036 (GRCm39) missense probably benign 0.16
R9566:Epm2aip1 UTSW 9 111,101,807 (GRCm39) missense probably damaging 1.00
R9644:Epm2aip1 UTSW 9 111,102,137 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AAGGCCTATTCCCTTGCTTTGG -3'
(R):5'- TTAGTAGAGGCTGAAACTCCGG -3'

Sequencing Primer
(F):5'- GATGACCAGGCTTTTGTGGC -3'
(R):5'- TGAAACTCCGGTCGCCTAAC -3'
Posted On 2019-06-26