Incidental Mutation 'IGL00832:Primpol'
ID 9428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Primpol
Ensembl Gene ENSMUSG00000038225
Gene Name primase and polymerase (DNA-directed)
Synonyms Ccdc111
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00832
Quality Score
Status
Chromosome 8
Chromosomal Location 47028629-47070247 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47034632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 432 (V432A)
Ref Sequence ENSEMBL: ENSMUSP00000147574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034045] [ENSMUST00000040468] [ENSMUST00000093518] [ENSMUST00000135432] [ENSMUST00000136335] [ENSMUST00000209787] [ENSMUST00000211400]
AlphaFold Q6P1E7
Predicted Effect probably benign
Transcript: ENSMUST00000034045
SMART Domains Protein: ENSMUSP00000034045
Gene: ENSMUSG00000031629

DomainStartEndE-ValueType
low complexity region 58 66 N/A INTRINSIC
Pfam:CENP-U 138 312 6.5e-74 PFAM
low complexity region 340 354 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000040468
AA Change: V432A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036119
Gene: ENSMUSG00000038225
AA Change: V432A

DomainStartEndE-ValueType
Pfam:Herpes_UL52 384 448 1.3e-19 PFAM
low complexity region 465 478 N/A INTRINSIC
low complexity region 491 516 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093518
SMART Domains Protein: ENSMUSP00000091239
Gene: ENSMUSG00000031629

DomainStartEndE-ValueType
Pfam:CENP-U 39 162 4.6e-61 PFAM
low complexity region 190 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135432
Predicted Effect probably benign
Transcript: ENSMUST00000136335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136724
Predicted Effect probably damaging
Transcript: ENSMUST00000209787
AA Change: V432A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000211400
AA Change: V432A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mutants are viable and fertile. Mice homozygous for another knock-out allele exhibit selective increase in C to G transversions in B cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,209,193 (GRCm39) Y407C probably damaging Het
Amtn T G 5: 88,532,908 (GRCm39) H174Q possibly damaging Het
Cdon T A 9: 35,389,412 (GRCm39) I839N probably damaging Het
Ces2g A G 8: 105,694,471 (GRCm39) probably benign Het
Cgas A T 9: 78,341,599 (GRCm39) C393S probably damaging Het
Colq G T 14: 31,250,303 (GRCm39) C367* probably null Het
Dop1b T C 16: 93,560,289 (GRCm39) V745A probably benign Het
E2f8 C T 7: 48,517,951 (GRCm39) G657D probably damaging Het
Gpcpd1 G A 2: 132,388,770 (GRCm39) T334M probably damaging Het
Gria2 T C 3: 80,614,558 (GRCm39) D494G probably damaging Het
Gtf3c1 T C 7: 125,253,632 (GRCm39) probably benign Het
Gtf3c2 G A 5: 31,330,349 (GRCm39) probably benign Het
Hnf4g G A 3: 3,706,336 (GRCm39) C77Y probably damaging Het
Ido1 G A 8: 25,074,575 (GRCm39) T265I possibly damaging Het
Ifih1 A G 2: 62,475,814 (GRCm39) probably benign Het
Itga6 A G 2: 71,668,606 (GRCm39) probably null Het
Kctd10 C A 5: 114,506,997 (GRCm39) probably null Het
Ltk A T 2: 119,586,086 (GRCm39) probably benign Het
Luc7l3 T C 11: 94,194,768 (GRCm39) D84G probably benign Het
Mc3r A T 2: 172,090,948 (GRCm39) I57F possibly damaging Het
Mmp1b T A 9: 7,387,023 (GRCm39) Q63L possibly damaging Het
Ncr1 C A 7: 4,344,287 (GRCm39) T225N possibly damaging Het
Nf2 T C 11: 4,741,123 (GRCm39) K364E probably benign Het
Ppl A T 16: 4,906,839 (GRCm39) L1152H probably damaging Het
Rbl2 A G 8: 91,812,073 (GRCm39) D214G probably damaging Het
Rxfp2 A T 5: 149,989,893 (GRCm39) M425L probably benign Het
Slc5a3 T C 16: 91,874,519 (GRCm39) M192T probably damaging Het
Tbx18 T A 9: 87,587,714 (GRCm39) S468C probably damaging Het
Tex10 T C 4: 48,468,864 (GRCm39) T104A probably benign Het
Unc13b T G 4: 43,258,921 (GRCm39) V4153G probably damaging Het
Vmn1r188 A G 13: 22,272,351 (GRCm39) T102A probably damaging Het
Other mutations in Primpol
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02421:Primpol APN 8 47,060,830 (GRCm39) splice site probably benign
IGL02886:Primpol APN 8 47,046,619 (GRCm39) nonsense probably null
IGL03244:Primpol APN 8 47,039,475 (GRCm39) missense probably damaging 1.00
R0243:Primpol UTSW 8 47,052,849 (GRCm39) missense probably damaging 1.00
R0329:Primpol UTSW 8 47,063,496 (GRCm39) missense probably damaging 0.97
R0330:Primpol UTSW 8 47,063,496 (GRCm39) missense probably damaging 0.97
R0571:Primpol UTSW 8 47,034,674 (GRCm39) missense probably damaging 1.00
R1266:Primpol UTSW 8 47,046,734 (GRCm39) missense probably damaging 1.00
R1334:Primpol UTSW 8 47,039,426 (GRCm39) missense probably damaging 1.00
R1469:Primpol UTSW 8 47,046,672 (GRCm39) missense probably benign
R1469:Primpol UTSW 8 47,046,672 (GRCm39) missense probably benign
R1524:Primpol UTSW 8 47,039,502 (GRCm39) intron probably benign
R1738:Primpol UTSW 8 47,060,873 (GRCm39) missense probably damaging 0.98
R2144:Primpol UTSW 8 47,039,378 (GRCm39) missense probably damaging 0.99
R3747:Primpol UTSW 8 47,052,848 (GRCm39) missense probably benign 0.34
R3748:Primpol UTSW 8 47,052,848 (GRCm39) missense probably benign 0.34
R3750:Primpol UTSW 8 47,052,848 (GRCm39) missense probably benign 0.34
R4378:Primpol UTSW 8 47,029,218 (GRCm39) utr 3 prime probably benign
R4855:Primpol UTSW 8 47,039,726 (GRCm39) missense probably benign 0.00
R5209:Primpol UTSW 8 47,043,295 (GRCm39) missense probably benign 0.00
R5497:Primpol UTSW 8 47,045,657 (GRCm39) nonsense probably null
R5720:Primpol UTSW 8 47,034,677 (GRCm39) missense probably damaging 1.00
R5963:Primpol UTSW 8 47,046,615 (GRCm39) missense possibly damaging 0.93
R6164:Primpol UTSW 8 47,039,477 (GRCm39) missense probably benign 0.10
R6497:Primpol UTSW 8 47,039,376 (GRCm39) critical splice donor site probably null
R6549:Primpol UTSW 8 47,058,185 (GRCm39) missense probably damaging 1.00
R7595:Primpol UTSW 8 47,063,650 (GRCm39) missense probably benign 0.00
R7775:Primpol UTSW 8 47,039,459 (GRCm39) missense probably damaging 1.00
R7778:Primpol UTSW 8 47,039,459 (GRCm39) missense probably damaging 1.00
R7824:Primpol UTSW 8 47,039,459 (GRCm39) missense probably damaging 1.00
R8055:Primpol UTSW 8 47,032,197 (GRCm39) missense probably benign 0.34
R8840:Primpol UTSW 8 47,046,731 (GRCm39) missense probably damaging 1.00
R8992:Primpol UTSW 8 47,034,597 (GRCm39) splice site probably benign
R9356:Primpol UTSW 8 47,043,318 (GRCm39) missense probably benign 0.00
R9388:Primpol UTSW 8 47,034,605 (GRCm39) missense possibly damaging 0.80
Posted On 2012-12-06