Incidental Mutation 'R3840:Epc2'
ID 277094
Institutional Source Beutler Lab
Gene Symbol Epc2
Ensembl Gene ENSMUSG00000069495
Gene Name enhancer of polycomb homolog 2
Synonyms D2Ertd694e
MMRRC Submission 040780-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3840 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 49341498-49441954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49378750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 68 (K68R)
Ref Sequence ENSEMBL: ENSMUSP00000089758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092123]
AlphaFold Q8C0I4
Predicted Effect probably damaging
Transcript: ENSMUST00000092123
AA Change: K68R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089758
Gene: ENSMUSG00000069495
AA Change: K68R

DomainStartEndE-ValueType
Pfam:EPL1 7 149 6.5e-18 PFAM
low complexity region 334 342 N/A INTRINSIC
low complexity region 445 466 N/A INTRINSIC
low complexity region 485 499 N/A INTRINSIC
low complexity region 553 564 N/A INTRINSIC
Pfam:E_Pc_C 578 808 2.1e-70 PFAM
Meta Mutation Damage Score 0.1827 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI

All alleles(45) : Targeted(3) Gene trapped(42)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,620,104 (GRCm39) K11N probably benign Het
Abcc8 A G 7: 45,757,524 (GRCm39) I1375T possibly damaging Het
Ate1 A T 7: 130,117,867 (GRCm39) D39E probably damaging Het
BC035947 G T 1: 78,474,482 (GRCm39) N683K probably benign Het
Cdca2 A T 14: 67,917,720 (GRCm39) Y559* probably null Het
Cmya5 A G 13: 93,231,140 (GRCm39) V1316A probably damaging Het
Cntnap5b C T 1: 100,311,202 (GRCm39) T936I possibly damaging Het
Col6a5 T C 9: 105,805,810 (GRCm39) N1032S unknown Het
Cracd A T 5: 77,006,858 (GRCm39) Q1073L unknown Het
Erbb3 A T 10: 128,406,193 (GRCm39) F1075I probably benign Het
F11r G T 1: 171,288,457 (GRCm39) R100L probably damaging Het
Fam171b C A 2: 83,710,406 (GRCm39) Q693K possibly damaging Het
Fam83c C T 2: 155,676,668 (GRCm39) R34H probably benign Het
Fmn2 GAAGA GAAGAAAGA 1: 174,409,599 (GRCm39) probably null Het
Gask1b T A 3: 79,815,897 (GRCm39) D302E probably benign Het
Ggt1 T A 10: 75,417,219 (GRCm39) Y5* probably null Het
Hsph1 T A 5: 149,544,180 (GRCm39) probably null Het
Jhy T A 9: 40,856,142 (GRCm39) E115V probably benign Het
Kcnu1 G T 8: 26,375,380 (GRCm39) V365L possibly damaging Het
Lrrc4c A G 2: 97,460,537 (GRCm39) T388A probably damaging Het
Mastl T C 2: 23,030,563 (GRCm39) D202G probably damaging Het
Medag T A 5: 149,350,888 (GRCm39) I121N probably damaging Het
Mideas T C 12: 84,218,383 (GRCm39) R526G probably damaging Het
Mocos C T 18: 24,809,681 (GRCm39) A428V probably damaging Het
Mok C T 12: 110,781,591 (GRCm39) V59M probably benign Het
Neb C A 2: 52,097,672 (GRCm39) probably null Het
Nr2c2 C T 6: 92,140,119 (GRCm39) R464W probably damaging Het
Or10al7 A G 17: 38,366,239 (GRCm39) S73P probably damaging Het
Or52s1 G A 7: 102,861,900 (GRCm39) G267R probably damaging Het
Otud1 G T 2: 19,663,554 (GRCm39) E228* probably null Het
Pcdhga11 A T 18: 37,890,602 (GRCm39) N537Y probably damaging Het
Pkd1l1 T C 11: 8,839,050 (GRCm39) Y878C probably damaging Het
Podxl C T 6: 31,500,016 (GRCm39) V485I probably damaging Het
Psmd12 T C 11: 107,376,398 (GRCm39) I44T probably benign Het
Rap1gap T C 4: 137,444,758 (GRCm39) F182S probably damaging Het
Slc22a13 T C 9: 119,037,855 (GRCm39) D91G probably benign Het
Slc4a11 A G 2: 130,529,974 (GRCm39) F268S probably damaging Het
Snap91 C T 9: 86,721,618 (GRCm39) V74M probably damaging Het
Tmem87b T A 2: 128,668,304 (GRCm39) L150* probably null Het
Tmprss7 T A 16: 45,481,195 (GRCm39) R664* probably null Het
Tnfrsf11b T A 15: 54,115,478 (GRCm39) H373L probably damaging Het
Tnfrsf23 A G 7: 143,235,266 (GRCm39) S33P probably benign Het
Tro A G X: 149,429,198 (GRCm39) probably benign Het
Tulp1 A G 17: 28,572,689 (GRCm39) V489A probably damaging Het
Wac C A 18: 7,918,535 (GRCm39) P416H probably damaging Het
Zap70 T A 1: 36,817,498 (GRCm39) I247N probably damaging Het
Zfp617 G A 8: 72,685,961 (GRCm39) G97E probably damaging Het
Other mutations in Epc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01921:Epc2 APN 2 49,422,209 (GRCm39) missense probably damaging 1.00
IGL02479:Epc2 APN 2 49,422,147 (GRCm39) missense probably benign 0.00
IGL03342:Epc2 APN 2 49,426,658 (GRCm39) missense probably benign 0.02
IGL02984:Epc2 UTSW 2 49,418,866 (GRCm39) missense probably damaging 1.00
R0014:Epc2 UTSW 2 49,412,537 (GRCm39) nonsense probably null
R0014:Epc2 UTSW 2 49,412,537 (GRCm39) nonsense probably null
R0360:Epc2 UTSW 2 49,427,145 (GRCm39) missense possibly damaging 0.81
R0364:Epc2 UTSW 2 49,427,145 (GRCm39) missense possibly damaging 0.81
R0401:Epc2 UTSW 2 49,418,986 (GRCm39) missense probably damaging 0.99
R1269:Epc2 UTSW 2 49,412,588 (GRCm39) missense probably benign 0.38
R1495:Epc2 UTSW 2 49,426,675 (GRCm39) missense probably damaging 1.00
R1573:Epc2 UTSW 2 49,439,984 (GRCm39) missense possibly damaging 0.81
R1619:Epc2 UTSW 2 49,439,990 (GRCm39) missense probably damaging 0.99
R1721:Epc2 UTSW 2 49,422,117 (GRCm39) missense probably damaging 1.00
R1847:Epc2 UTSW 2 49,422,101 (GRCm39) missense probably damaging 1.00
R1867:Epc2 UTSW 2 49,422,117 (GRCm39) missense probably damaging 1.00
R2113:Epc2 UTSW 2 49,422,235 (GRCm39) missense probably benign
R2120:Epc2 UTSW 2 49,437,621 (GRCm39) splice site probably benign
R3841:Epc2 UTSW 2 49,378,750 (GRCm39) missense probably damaging 1.00
R4366:Epc2 UTSW 2 49,437,566 (GRCm39) missense possibly damaging 0.84
R4864:Epc2 UTSW 2 49,427,177 (GRCm39) missense probably benign
R5335:Epc2 UTSW 2 49,403,242 (GRCm39) missense probably benign 0.39
R5639:Epc2 UTSW 2 49,341,903 (GRCm39) missense possibly damaging 0.78
R5695:Epc2 UTSW 2 49,437,619 (GRCm39) critical splice donor site probably null
R6259:Epc2 UTSW 2 49,378,866 (GRCm39) splice site probably null
R6420:Epc2 UTSW 2 49,341,912 (GRCm39) missense probably damaging 0.98
R6667:Epc2 UTSW 2 49,412,681 (GRCm39) missense probably damaging 0.99
R6788:Epc2 UTSW 2 49,422,099 (GRCm39) missense probably benign 0.32
R7061:Epc2 UTSW 2 49,425,334 (GRCm39) missense probably damaging 1.00
R7672:Epc2 UTSW 2 49,435,831 (GRCm39) missense possibly damaging 0.56
R8377:Epc2 UTSW 2 49,412,527 (GRCm39) missense probably damaging 0.99
R9397:Epc2 UTSW 2 49,378,822 (GRCm39) missense probably damaging 1.00
RF009:Epc2 UTSW 2 49,422,249 (GRCm39) critical splice donor site probably null
Z1176:Epc2 UTSW 2 49,425,312 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGAAGGAGAACTATTCCAAATCG -3'
(R):5'- ACTCAAAGTGATCTCCAAGCTC -3'

Sequencing Primer
(F):5'- GAGAACTATTCCAAATCGATTTTTGC -3'
(R):5'- TCAAAGTGATCTCCAAGCTCAAATG -3'
Posted On 2015-04-06