Incidental Mutation 'R6466:Pold3'
ID 516580
Institutional Source Beutler Lab
Gene Symbol Pold3
Ensembl Gene ENSMUSG00000030726
Gene Name polymerase (DNA-directed), delta 3, accessory subunit
Synonyms GC12, 2410142G14Rik, P68, P66, C85233
MMRRC Submission 044599-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6466 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 99731317-99770709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99749839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 42 (S42P)
Ref Sequence ENSEMBL: ENSMUSP00000146986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032969] [ENSMUST00000127128] [ENSMUST00000156202] [ENSMUST00000208184] [ENSMUST00000208670]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032969
AA Change: S148P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000032969
Gene: ENSMUSG00000030726
AA Change: S148P

DomainStartEndE-ValueType
Pfam:CDC27 19 461 1.6e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123675
Predicted Effect probably benign
Transcript: ENSMUST00000127128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129556
Predicted Effect silent
Transcript: ENSMUST00000156202
Predicted Effect probably benign
Transcript: ENSMUST00000208184
AA Change: S42P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000208670
AA Change: S109P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208704
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.1%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190005I06Rik A T 8: 121,335,735 (GRCm39) D69E probably damaging Het
AAdacl4fm3 T A 4: 144,430,437 (GRCm39) D184V probably damaging Het
Adgrv1 G T 13: 81,723,220 (GRCm39) probably null Het
Ahr A T 12: 35,554,031 (GRCm39) V696E probably benign Het
Akap13 A G 7: 75,376,792 (GRCm39) T2007A probably benign Het
Arid1b T C 17: 5,377,953 (GRCm39) F753S probably damaging Het
Bpifb3 G T 2: 153,764,108 (GRCm39) K105N probably damaging Het
C2cd2 A G 16: 97,680,822 (GRCm39) C331R probably benign Het
Chrm1 T A 19: 8,655,542 (GRCm39) Y82* probably null Het
Clcn3 A C 8: 61,382,595 (GRCm39) V331G probably damaging Het
Dchs1 A T 7: 105,413,748 (GRCm39) D1022E probably benign Het
Dnah2 T A 11: 69,430,241 (GRCm39) T106S probably benign Het
Fam171a2 T A 11: 102,330,711 (GRCm39) D256V probably damaging Het
Firrm G T 1: 163,781,734 (GRCm39) R898S probably benign Het
Fmn2 T A 1: 174,437,149 (GRCm39) probably benign Het
Fut11 C T 14: 20,745,377 (GRCm39) R103W probably damaging Het
Gas2l2 A C 11: 83,320,179 (GRCm39) S26A probably damaging Het
Gramd1a A T 7: 30,843,221 (GRCm39) I29N probably benign Het
Grem2 A G 1: 174,664,450 (GRCm39) V133A probably damaging Het
Hydin T A 8: 111,233,600 (GRCm39) S1813T possibly damaging Het
Igkv3-2 T C 6: 70,676,023 (GRCm39) F111L probably benign Het
Ints8 T C 4: 11,252,878 (GRCm39) Q68R probably damaging Het
Irx5 A G 8: 93,086,354 (GRCm39) I146V probably damaging Het
Kcnh3 T C 15: 99,136,124 (GRCm39) L707P probably damaging Het
Kcnk4 T A 19: 6,905,665 (GRCm39) I101F probably damaging Het
Klhl9 A G 4: 88,639,399 (GRCm39) Y281H probably benign Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Lmbr1 C T 5: 29,583,166 (GRCm39) A9T probably benign Het
Map10 G T 8: 126,399,123 (GRCm39) E839* probably null Het
Nectin4 C A 1: 171,214,321 (GRCm39) A492D probably damaging Het
Nfat5 T A 8: 108,082,140 (GRCm39) probably null Het
Or5p5 A G 7: 107,413,901 (GRCm39) T37A probably benign Het
Plec A G 15: 76,062,084 (GRCm39) Y2608H probably benign Het
Ppp2r1a G T 17: 21,180,893 (GRCm39) G432* probably null Het
Qki T C 17: 10,434,394 (GRCm39) E315G probably benign Het
Rfx2 C T 17: 57,091,397 (GRCm39) V354I probably benign Het
Rp1 T C 1: 4,418,109 (GRCm39) Y1001C probably benign Het
Sez6l A G 5: 112,609,007 (GRCm39) probably null Het
Slc39a14 A G 14: 70,547,335 (GRCm39) I337T probably damaging Het
Slc3a2 G T 19: 8,686,683 (GRCm39) L76M probably damaging Het
Slco1a5 T C 6: 142,183,260 (GRCm39) T555A probably benign Het
Sprr2e A T 3: 92,260,341 (GRCm39) K57N unknown Het
Syne2 A G 12: 75,990,675 (GRCm39) T1886A probably damaging Het
Tenm3 A T 8: 48,689,098 (GRCm39) I2147N probably damaging Het
Thbs1 G T 2: 117,950,328 (GRCm39) G654W probably damaging Het
Tigd5 A G 15: 75,782,352 (GRCm39) Y238C possibly damaging Het
Tmem221 A G 8: 72,010,493 (GRCm39) F126S probably damaging Het
Trp63 C A 16: 25,582,108 (GRCm39) P52Q probably damaging Het
Ugp2 A T 11: 21,278,883 (GRCm39) S434R probably benign Het
Vmn2r69 A C 7: 85,056,378 (GRCm39) F587V probably benign Het
Vps13d T A 4: 144,784,065 (GRCm39) N3872I possibly damaging Het
Wdfy2 A G 14: 63,186,115 (GRCm39) Y250C probably damaging Het
Zbtb16 T C 9: 48,576,619 (GRCm39) D487G possibly damaging Het
Other mutations in Pold3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01891:Pold3 APN 7 99,737,352 (GRCm39) splice site probably benign
IGL02101:Pold3 APN 7 99,749,703 (GRCm39) missense probably damaging 0.99
IGL02402:Pold3 APN 7 99,749,618 (GRCm39) splice site probably benign
IGL02541:Pold3 APN 7 99,732,879 (GRCm39) missense probably damaging 1.00
IGL03145:Pold3 APN 7 99,745,719 (GRCm39) missense probably damaging 1.00
R0522:Pold3 UTSW 7 99,770,590 (GRCm39) missense probably damaging 1.00
R1263:Pold3 UTSW 7 99,768,890 (GRCm39) missense possibly damaging 0.65
R1956:Pold3 UTSW 7 99,737,318 (GRCm39) missense probably benign 0.03
R2508:Pold3 UTSW 7 99,770,590 (GRCm39) missense probably damaging 1.00
R3933:Pold3 UTSW 7 99,770,608 (GRCm39) missense probably damaging 1.00
R4135:Pold3 UTSW 7 99,749,854 (GRCm39) nonsense probably null
R4354:Pold3 UTSW 7 99,749,824 (GRCm39) missense possibly damaging 0.81
R5038:Pold3 UTSW 7 99,770,590 (GRCm39) missense probably damaging 1.00
R6060:Pold3 UTSW 7 99,749,819 (GRCm39) nonsense probably null
R6118:Pold3 UTSW 7 99,745,614 (GRCm39) missense possibly damaging 0.88
R6338:Pold3 UTSW 7 99,737,312 (GRCm39) missense possibly damaging 0.94
R7000:Pold3 UTSW 7 99,755,865 (GRCm39) missense probably damaging 1.00
R8088:Pold3 UTSW 7 99,761,508 (GRCm39) missense probably damaging 1.00
R8488:Pold3 UTSW 7 99,738,938 (GRCm39) missense probably benign 0.00
R9377:Pold3 UTSW 7 99,732,993 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TCCTGGGTTTTAGTAGCAGC -3'
(R):5'- AGGCCAAAGTTTCTTCTCCAC -3'

Sequencing Primer
(F):5'- GCAGCTTTAGAGATTAACATTCCC -3'
(R):5'- GCCTAGTTCTTTACCCAAATGGAG -3'
Posted On 2018-05-21