Incidental Mutation 'R7860:Epm2aip1'
ID 607440
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 045913-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R7860 (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 111101105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 26 (Y26C)
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 damaging
Transcript: ENSMUST00000060711
AA Change: Y26C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000135218
Predicted Effect probably damaging
Transcript: ENSMUST00000135807
AA Change: Y26C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (78/79)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,905,707 (GRCm39) T493A probably damaging Het
Aars1 A G 8: 111,776,493 (GRCm39) K650E probably benign Het
Abcb1b C T 5: 8,882,258 (GRCm39) S793F probably benign Het
Adamts18 T A 8: 114,501,908 (GRCm39) I318F probably damaging Het
Adcy8 A G 15: 64,571,322 (GRCm39) I1137T probably damaging Het
Ambra1 T A 2: 91,603,838 (GRCm39) F607L probably benign Het
Ankrd46 A T 15: 36,479,566 (GRCm39) V175D possibly damaging Het
Arhgap28 C A 17: 68,208,277 (GRCm39) E114* probably null Het
Arrdc1 C T 2: 24,816,158 (GRCm39) G282S probably damaging Het
Atp1a3 A T 7: 24,681,216 (GRCm39) L790Q probably damaging Het
Bend5 T A 4: 111,272,406 (GRCm39) V12D probably damaging Het
Bod1l C T 5: 41,976,608 (GRCm39) E1569K probably damaging Het
Cdc123 T A 2: 5,808,775 (GRCm39) I234L probably benign Het
Cep126 T G 9: 8,120,749 (GRCm39) E91D probably damaging Het
Cep89 T A 7: 35,113,570 (GRCm39) D199E possibly damaging Het
Ces1d T C 8: 93,897,765 (GRCm39) T442A probably benign Het
Chsy3 C T 18: 59,542,299 (GRCm39) A479V probably benign Het
Clcn4 C A 7: 7,296,060 (GRCm39) G261C probably damaging Het
Clhc1 A T 11: 29,507,651 (GRCm39) probably null Het
Cnot3 T A 7: 3,658,565 (GRCm39) probably null Het
Col9a1 C A 1: 24,276,261 (GRCm39) P723H probably damaging Het
Crybg3 A T 16: 59,375,605 (GRCm39) M169K probably benign Het
Cxxc4 A G 3: 133,963,814 (GRCm39) R353G probably benign Het
Dennd3 A T 15: 73,412,657 (GRCm39) I440F probably damaging Het
Dnai3 A G 3: 145,772,675 (GRCm39) L457P probably damaging Het
Elmo3 G T 8: 106,035,649 (GRCm39) S553I probably damaging Het
Elovl2 A G 13: 41,340,943 (GRCm39) Y198H probably benign Het
Ext1 A C 15: 52,953,335 (GRCm39) C510G possibly damaging Het
Extl3 A T 14: 65,314,938 (GRCm39) D81E probably benign Het
Fbxl5 T A 5: 43,916,018 (GRCm39) T465S probably benign Het
Fbxo31 G A 8: 122,291,384 (GRCm39) probably null Het
Gabrr2 A T 4: 33,081,470 (GRCm39) K169* probably null Het
Haus4 A G 14: 54,779,602 (GRCm39) Y341H probably damaging Het
Itgae A T 11: 73,011,099 (GRCm39) probably null Het
Jmjd7 C T 2: 119,860,996 (GRCm39) H149Y possibly damaging Het
Kcnh2 C T 5: 24,529,561 (GRCm39) C725Y probably damaging Het
Mroh1 C T 15: 76,331,532 (GRCm39) P1252L probably benign Het
Ms4a14 A G 19: 11,280,308 (GRCm39) F750S probably benign Het
Naf1 T A 8: 67,313,165 (GRCm39) D49E unknown Het
Notch3 T C 17: 32,341,747 (GRCm39) T2002A possibly damaging Het
Or10q12 T A 19: 13,745,716 (GRCm39) D3E probably benign Het
Or14c44 A G 7: 86,057,119 (GRCm39) probably benign Het
Or1e33 A T 11: 73,738,333 (GRCm39) I206N probably benign Het
Or2d3c A T 7: 106,525,777 (GRCm39) D296E probably benign Het
Or2l13b A T 16: 19,349,167 (GRCm39) C168S probably damaging Het
Or7e175 A T 9: 20,048,871 (GRCm39) N153I probably benign Het
Or9s23 G A 1: 92,501,810 (GRCm39) D306N probably benign Het
Pck1 A G 2: 172,997,743 (GRCm39) T271A possibly damaging Het
Penk A G 4: 4,133,976 (GRCm39) W224R possibly damaging Het
Per2 C A 1: 91,372,481 (GRCm39) V198F probably damaging Het
Phf11d A G 14: 59,599,280 (GRCm39) M23T probably damaging Het
Pla2g4d A G 2: 120,097,211 (GRCm39) V796A probably benign Het
Pramel51 A T 12: 88,143,122 (GRCm39) N360K possibly damaging Het
Prdx6 A T 1: 161,069,428 (GRCm39) probably null Het
Prep A T 10: 44,967,108 (GRCm39) N47I probably damaging Het
Prodh2 A T 7: 30,212,064 (GRCm39) probably null Het
Prss38 G T 11: 59,265,996 (GRCm39) H96N probably damaging Het
Rab11a C A 9: 64,635,613 (GRCm39) E47* probably null Het
Rad18 C T 6: 112,626,798 (GRCm39) G369D probably benign Het
Rragc T C 4: 123,823,717 (GRCm39) V330A probably damaging Het
Serpina9 A T 12: 103,967,680 (GRCm39) H238Q probably benign Het
Serpinb3b T A 1: 107,085,467 (GRCm39) K91N probably damaging Het
Slc16a12 T G 19: 34,652,730 (GRCm39) S139R probably benign Het
Slc22a27 T A 19: 7,887,472 (GRCm39) probably null Het
Slc25a11 A G 11: 70,536,005 (GRCm39) V243A probably benign Het
Slc38a9 A T 13: 112,868,148 (GRCm39) I545F probably benign Het
Slc39a8 A T 3: 135,590,157 (GRCm39) H349L probably damaging Het
Slk C T 19: 47,630,510 (GRCm39) T1227I possibly damaging Het
Spdye4b A G 5: 143,180,609 (GRCm39) E25G possibly damaging Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
St3gal1 A G 15: 66,983,114 (GRCm39) V214A probably benign Het
St7l T A 3: 104,833,893 (GRCm39) M550K probably benign Het
Tbk1 A C 10: 121,388,151 (GRCm39) F638C possibly damaging Het
Tex101 A T 7: 24,369,190 (GRCm39) C114S probably damaging Het
Ttll13 A G 7: 79,905,135 (GRCm39) M384V probably benign Het
Ugt2b37 A T 5: 87,402,189 (GRCm39) D147E probably damaging Het
Vmn1r10 A T 6: 57,090,686 (GRCm39) T93S probably benign Het
Wasl G A 6: 24,619,396 (GRCm39) P375S unknown Het
Zfp236 C A 18: 82,692,481 (GRCm39) E165* probably null Het
Zfp839 A T 12: 110,822,060 (GRCm39) R291S 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
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
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
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'- TCTCCAGCCAATAGGAACGGAG -3'
(R):5'- AAAGACATGTCACCCTGCCG -3'

Sequencing Primer
(F):5'- CTGCTCGGGTGATCTGGC -3'
(R):5'- ATGTCACCCTGCCGCAGAC -3'
Posted On 2019-12-20