Incidental Mutation 'IGL01717:Pole2'
ID 104967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pole2
Ensembl Gene ENSMUSG00000020974
Gene Name polymerase (DNA directed), epsilon 2 (p59 subunit)
Synonyms DNA polymerase epsilon small subunit
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01717
Quality Score
Status
Chromosome 12
Chromosomal Location 69248547-69274969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69260623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 186 (M186V)
Ref Sequence ENSEMBL: ENSMUSP00000152262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021359] [ENSMUST00000221411]
AlphaFold O54956
Predicted Effect probably damaging
Transcript: ENSMUST00000021359
AA Change: M186V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974
AA Change: M186V

DomainStartEndE-ValueType
Pfam:Dpoe2NT 2 74 1.9e-32 PFAM
Pfam:DNA_pol_E_B 287 489 1.4e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221411
AA Change: M186V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221806
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 A T 17: 35,390,531 (GRCm39) M73K probably damaging Het
Alk T C 17: 72,910,377 (GRCm39) I110V probably benign Het
Aoah T C 13: 21,184,147 (GRCm39) S404P probably damaging Het
Bhlhe41 A G 6: 145,808,763 (GRCm39) S350P possibly damaging Het
Bltp1 A G 3: 37,088,885 (GRCm39) S4112G probably benign Het
Capn12 A G 7: 28,588,530 (GRCm39) D540G probably benign Het
Chd6 A G 2: 160,807,179 (GRCm39) Y2012H possibly damaging Het
Col1a1 A G 11: 94,841,603 (GRCm39) T1284A unknown Het
Col24a1 T C 3: 145,230,018 (GRCm39) probably benign Het
Col4a5 T A X: 140,422,234 (GRCm39) V1070D unknown Het
Col6a5 T C 9: 105,817,472 (GRCm39) T280A unknown Het
Dicer1 A T 12: 104,669,046 (GRCm39) L1212* probably null Het
Gigyf1 T A 5: 137,523,953 (GRCm39) V1041E probably damaging Het
Gm4978 C T 9: 69,358,155 (GRCm39) probably benign Het
Gnai1 A G 5: 18,496,459 (GRCm39) probably null Het
Golgb1 C T 16: 36,735,864 (GRCm39) R1704* probably null Het
Incenp A G 19: 9,870,629 (GRCm39) probably benign Het
Lrrc39 A T 3: 116,373,146 (GRCm39) probably benign Het
Man2a2 T C 7: 80,017,113 (GRCm39) K319E probably damaging Het
Neb T C 2: 52,079,879 (GRCm39) D83G probably damaging Het
Osbpl6 T C 2: 76,418,938 (GRCm39) I732T probably damaging Het
Pacs1 T A 19: 5,218,000 (GRCm39) K130N probably damaging Het
Pappa2 A G 1: 158,684,702 (GRCm39) probably null Het
Rwdd4a T C 8: 47,997,140 (GRCm39) probably benign Het
Sel1l3 A G 5: 53,357,510 (GRCm39) Y161H probably damaging Het
Sf3a2 C T 10: 80,640,526 (GRCm39) Q446* probably null Het
Slc26a3 T C 12: 31,513,476 (GRCm39) I466T probably benign Het
Slc29a4 A T 5: 142,704,501 (GRCm39) I348F probably damaging Het
Tbl1xr1 A G 3: 22,247,335 (GRCm39) probably benign Het
Tlr5 A T 1: 182,802,963 (GRCm39) I756F probably damaging Het
Ttn A T 2: 76,560,748 (GRCm39) L29218I probably damaging Het
Ttn T A 2: 76,560,746 (GRCm39) L29218F probably damaging Het
Other mutations in Pole2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00930:Pole2 APN 12 69,273,219 (GRCm39) splice site probably benign
IGL00940:Pole2 APN 12 69,262,134 (GRCm39) missense probably damaging 1.00
IGL01593:Pole2 APN 12 69,269,873 (GRCm39) splice site probably null
IGL01609:Pole2 APN 12 69,254,631 (GRCm39) critical splice donor site probably null
IGL02168:Pole2 APN 12 69,248,660 (GRCm39) unclassified probably benign
IGL02208:Pole2 APN 12 69,269,936 (GRCm39) missense possibly damaging 0.91
IGL02966:Pole2 APN 12 69,256,649 (GRCm39) missense probably damaging 1.00
PIT4504001:Pole2 UTSW 12 69,256,759 (GRCm39) nonsense probably null
R0069:Pole2 UTSW 12 69,256,661 (GRCm39) missense probably damaging 1.00
R0069:Pole2 UTSW 12 69,256,661 (GRCm39) missense probably damaging 1.00
R0396:Pole2 UTSW 12 69,269,160 (GRCm39) splice site probably benign
R0574:Pole2 UTSW 12 69,258,231 (GRCm39) splice site probably benign
R0620:Pole2 UTSW 12 69,256,653 (GRCm39) missense probably damaging 1.00
R0685:Pole2 UTSW 12 69,258,187 (GRCm39) missense probably damaging 0.98
R0791:Pole2 UTSW 12 69,254,703 (GRCm39) missense probably benign 0.06
R1452:Pole2 UTSW 12 69,254,703 (GRCm39) missense probably benign 0.06
R1453:Pole2 UTSW 12 69,254,703 (GRCm39) missense probably benign 0.06
R1455:Pole2 UTSW 12 69,254,703 (GRCm39) missense probably benign 0.06
R1912:Pole2 UTSW 12 69,256,764 (GRCm39) missense probably damaging 0.99
R2067:Pole2 UTSW 12 69,274,926 (GRCm39) missense probably benign 0.01
R2929:Pole2 UTSW 12 69,256,712 (GRCm39) missense probably benign 0.13
R3016:Pole2 UTSW 12 69,268,836 (GRCm39) missense probably benign 0.14
R4504:Pole2 UTSW 12 69,269,242 (GRCm39) missense probably benign 0.00
R4765:Pole2 UTSW 12 69,268,826 (GRCm39) missense possibly damaging 0.49
R4790:Pole2 UTSW 12 69,273,139 (GRCm39) missense probably benign 0.00
R4896:Pole2 UTSW 12 69,269,924 (GRCm39) missense probably damaging 0.97
R6998:Pole2 UTSW 12 69,260,680 (GRCm39) missense possibly damaging 0.82
R7257:Pole2 UTSW 12 69,249,684 (GRCm39) missense probably damaging 1.00
R7535:Pole2 UTSW 12 69,269,203 (GRCm39) missense probably benign 0.10
R7841:Pole2 UTSW 12 69,251,032 (GRCm39) missense probably damaging 1.00
R8437:Pole2 UTSW 12 69,250,961 (GRCm39) nonsense probably null
R8506:Pole2 UTSW 12 69,255,734 (GRCm39) missense probably benign
R9467:Pole2 UTSW 12 69,255,719 (GRCm39) missense probably benign 0.40
R9494:Pole2 UTSW 12 69,249,731 (GRCm39) missense possibly damaging 0.73
Posted On 2014-01-21