Incidental Mutation 'R4741:Epm2aip1'
ID 358092
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 042026-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R4741 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 111100997-111108161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111101681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 218 (H218R)
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: H218R

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134316
Predicted Effect probably benign
Transcript: ENSMUST00000135218
Predicted Effect probably benign
Transcript: ENSMUST00000135807
AA Change: H218R

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200053
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
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
Angptl2 T C 2: 33,136,200 (GRCm39) Y462H probably benign Het
Arhgef12 A G 9: 42,883,449 (GRCm39) I1360T possibly damaging Het
Armc10 T G 5: 21,856,834 (GRCm39) L111R probably damaging Het
Atm T C 9: 53,364,907 (GRCm39) K2628E probably benign Het
Best3 A T 10: 116,859,901 (GRCm39) N387I probably benign Het
Bltp1 A G 3: 36,996,524 (GRCm39) T1079A probably damaging Het
Brpf3 T C 17: 29,036,758 (GRCm39) F721S possibly damaging Het
Cacna1c A G 6: 118,590,271 (GRCm39) S1411P probably damaging Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Clip2 T A 5: 134,545,123 (GRCm39) T344S probably benign Het
Csmd1 A C 8: 15,960,447 (GRCm39) W3323G probably damaging Het
Doc2a A T 7: 126,450,617 (GRCm39) T298S possibly damaging Het
Dpp9 T C 17: 56,512,286 (GRCm39) N234S probably benign Het
Dtx2 C T 5: 136,055,371 (GRCm39) R353C probably benign Het
F2rl1 G A 13: 95,650,651 (GRCm39) T77M probably damaging Het
Fsd2 A G 7: 81,201,643 (GRCm39) probably null Het
Grin2a T C 16: 9,481,376 (GRCm39) Y475C probably damaging Het
H2-Ob T A 17: 34,461,545 (GRCm39) S95T possibly damaging Het
Hddc3 A G 7: 79,995,464 (GRCm39) T160A probably benign Het
Hp A T 8: 110,302,104 (GRCm39) C281* probably null Het
Ighg1 T C 12: 113,290,178 (GRCm39) probably benign Het
Ints7 A G 1: 191,351,747 (GRCm39) I819V probably benign Het
Jam2 G A 16: 84,609,840 (GRCm39) V151M probably damaging Het
Jmjd1c A G 10: 67,060,718 (GRCm39) I737V possibly damaging Het
Krt74 C T 15: 101,669,876 (GRCm39) noncoding transcript Het
Lnpep T C 17: 17,791,920 (GRCm39) Y407C probably damaging Het
Lrp4 T G 2: 91,341,912 (GRCm39) C1842G probably damaging Het
Mug2 T A 6: 122,056,572 (GRCm39) N1172K probably benign Het
Npy6r A T 18: 44,408,791 (GRCm39) T71S probably damaging Het
Nsd3 A T 8: 26,163,382 (GRCm39) I591F probably damaging Het
Oog2 A C 4: 143,921,715 (GRCm39) E208D possibly damaging Het
Otogl A G 10: 107,615,121 (GRCm39) I1928T probably benign Het
Papss1 T C 3: 131,324,860 (GRCm39) L418P probably damaging Het
Pcdhb13 T A 18: 37,576,571 (GRCm39) D316E probably benign Het
Pcdhgb2 T A 18: 37,824,737 (GRCm39) probably null Het
Ptcd3 T A 6: 71,879,933 (GRCm39) L108F probably damaging Het
Ralgps1 T C 2: 33,226,599 (GRCm39) S31G probably benign Het
Rnf225 A T 7: 12,661,857 (GRCm39) H12L probably benign Het
Ryr3 T A 2: 112,633,613 (GRCm39) M2047L probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpinb3b G T 1: 107,082,200 (GRCm39) Q355K probably benign Het
Slc8a2 T A 7: 15,868,233 (GRCm39) F155Y probably damaging Het
Taf1c A G 8: 120,330,134 (GRCm39) probably benign Het
Tln2 A G 9: 67,293,837 (GRCm39) probably null Het
Tmpo A G 10: 90,998,506 (GRCm39) V427A probably benign Het
Vmn1r17 A T 6: 57,338,337 (GRCm39) Y9* probably null Het
Vmn2r63 C T 7: 42,577,544 (GRCm39) M331I probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfand5 C T 19: 21,253,845 (GRCm39) T16I probably damaging Het
Zfp352 A T 4: 90,113,177 (GRCm39) K439M possibly damaging Het
Zfp786 G A 6: 47,797,625 (GRCm39) H438Y probably damaging Het
Zfp808 T A 13: 62,319,763 (GRCm39) C331S probably damaging 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
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
R7262:Epm2aip1 UTSW 9 111,101,728 (GRCm39) missense probably benign 0.01
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'- TGAGCATTGACAGCAACCTCC -3'
(R):5'- CTCAACAGTTCCAAGTGAAGAAATC -3'

Sequencing Primer
(F):5'- CGCAGCCAGCTGTTTAAC -3'
(R):5'- ATCCCGAATAGTGGATTACGTTCC -3'
Posted On 2015-11-11