Incidental Mutation 'R3933:Pold3'
ID 308557
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 040920-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3933 (G1)
Quality Score 175
Status Validated
Chromosome 7
Chromosomal Location 99731317-99770709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99770608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 8 (E8G)
Ref Sequence ENSEMBL: ENSMUSP00000032969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032969] [ENSMUST00000127128] [ENSMUST00000156202] [ENSMUST00000208184] [ENSMUST00000208670]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032969
AA Change: E8G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032969
Gene: ENSMUSG00000030726
AA Change: E8G

DomainStartEndE-ValueType
Pfam:CDC27 19 461 1.6e-142 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127128
AA Change: E8G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000156202
Predicted Effect probably benign
Transcript: ENSMUST00000208184
Predicted Effect probably benign
Transcript: ENSMUST00000208670
Meta Mutation Damage Score 0.5830 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 96% (43/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,304,856 (GRCm39) F3350L probably damaging Het
Acp6 T C 3: 97,073,499 (GRCm39) V146A probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Arhgef33 A G 17: 80,680,749 (GRCm39) I630V probably benign Het
Astn2 G A 4: 66,322,192 (GRCm39) R136C unknown Het
Bcl2l14 A G 6: 134,400,771 (GRCm39) D64G probably damaging Het
C1rl T A 6: 124,485,781 (GRCm39) L384* probably null Het
Ccdc6 TCCGCCGCCGCC TCCGCCGCC 10: 70,025,000 (GRCm39) probably benign Het
Coch T C 12: 51,650,121 (GRCm39) I370T probably damaging Het
Ercc5 T A 1: 44,207,016 (GRCm39) M643K probably benign Het
Fut8 A C 12: 77,522,033 (GRCm39) K557N probably damaging Het
Hsdl2 T C 4: 59,597,274 (GRCm39) Y88H probably damaging Het
Hspg2 T C 4: 137,242,879 (GRCm39) V670A probably damaging Het
Itga8 A G 2: 12,194,330 (GRCm39) I690T probably benign Het
Lepr T C 4: 101,622,498 (GRCm39) probably benign Het
Matn2 T C 15: 34,345,566 (GRCm39) probably null Het
Mei1 A G 15: 81,967,353 (GRCm39) K310E possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msl3 C T X: 167,454,813 (GRCm39) A87T probably damaging Het
Nalf2 G A X: 98,865,470 (GRCm39) V266M possibly damaging Het
Ogdh T C 11: 6,292,601 (GRCm39) V438A possibly damaging Het
Opa1 A T 16: 29,429,698 (GRCm39) E401D probably damaging Het
Or4f17-ps1 T C 2: 111,358,300 (GRCm39) Y232H probably damaging Het
Or5aq6 T A 2: 86,923,106 (GRCm39) I212F probably benign Het
Parp2 G A 14: 51,056,844 (GRCm39) V323M probably benign Het
Pip5k1a A G 3: 94,979,314 (GRCm39) S161P probably benign Het
Pomt1 G A 2: 32,135,631 (GRCm39) V332I probably benign Het
Ppp2ca T A 11: 52,010,089 (GRCm39) N232K probably damaging Het
Prune2 A T 19: 17,101,318 (GRCm39) D2274V probably damaging Het
Pwwp2b G A 7: 138,835,950 (GRCm39) V464I possibly damaging Het
Rgs7bp T C 13: 105,189,506 (GRCm39) M98V probably benign Het
Rubcn A G 16: 32,649,629 (GRCm39) probably null Het
Scai A T 2: 38,965,064 (GRCm39) D593E probably benign Het
Slc24a2 T C 4: 87,094,422 (GRCm39) T366A probably benign Het
Sp100 A G 1: 85,608,830 (GRCm39) I320V probably benign Het
Syngr2 C A 11: 117,704,243 (GRCm39) P206Q probably damaging Het
Tatdn3 A T 1: 190,778,521 (GRCm39) probably null Het
Thsd7a C T 6: 12,555,225 (GRCm39) G220S probably benign Het
Vmn2r10 C A 5: 109,150,088 (GRCm39) A319S possibly damaging Het
Vmn2r11 C T 5: 109,201,260 (GRCm39) A415T probably damaging Het
Vmn2r88 A G 14: 51,651,435 (GRCm39) M258V probably benign Het
Wiz G A 17: 32,576,872 (GRCm39) R561C probably damaging Het
Yju2b G A 8: 84,986,981 (GRCm39) A172V probably benign Het
Zfp422 T C 6: 116,603,420 (GRCm39) K193R probably benign 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
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
R6466:Pold3 UTSW 7 99,749,839 (GRCm39) missense probably benign 0.01
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'- GAAAGTCGGCCAGTCTCAAC -3'
(R):5'- GCTGGCCTCTCACTAGTTTG -3'

Sequencing Primer
(F):5'- TCAACTGTCTTGAGGGGCCAC -3'
(R):5'- AGTTTGGCCCTCACCCG -3'
Posted On 2015-04-17