Incidental Mutation 'F6893:Poldip2'
ID188
Institutional Source Beutler Lab
Gene Symbol Poldip2
Ensembl Gene ENSMUSG00000001100
Gene Namepolymerase (DNA-directed), delta interacting protein 2
Synonymsmitogenin 1, 1300003F06Rik
Accession Numbers

Genbank: NM_026389; MGI: 1915061

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #F6893 (G3) of strain busy
Quality Score
Status Validated
Chromosome11
Chromosomal Location78512193-78522736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78519194 bp
ZygosityHomozygous
Amino Acid Change Isoleucine to Methionine at position 267 (I267M)
Ref Sequence ENSEMBL: ENSMUSP00000001127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001127] [ENSMUST00000017759] [ENSMUST00000108277]
Predicted Effect probably damaging
Transcript: ENSMUST00000001127
AA Change: I267M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
AA Change: I267M

DomainStartEndE-ValueType
low complexity region 29 47 N/A INTRINSIC
YccV-like 74 210 1.03e-39 SMART
Pfam:DUF525 252 338 2.3e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000017759
SMART Domains Protein: ENSMUSP00000017759
Gene: ENSMUSG00000017615

DomainStartEndE-ValueType
BTB 28 128 4.8e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108277
SMART Domains Protein: ENSMUSP00000103912
Gene: ENSMUSG00000017615

DomainStartEndE-ValueType
BTB 28 128 4.8e-18 SMART
Predicted Effect unknown
Transcript: ENSMUST00000133601
AA Change: I232M
SMART Domains Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100
AA Change: I232M

DomainStartEndE-ValueType
YccV-like 40 176 1.03e-39 SMART
Pfam:DUF525 218 278 4.9e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156754
Meta Mutation Damage Score 0.026 question?
Coding Region Coverage
  • 1x: 88.7%
  • 3x: 74.0%
Validation Efficiency 88% (165/188)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit preweaning lethality and decreased body size. Mice heterozygous for this allele exhibit abnormal induced vasoconstriction and vasodilation with abnormal aorta elastic tissue morphology. [provided by MGI curators]
Allele List at MGI

All alleles(34) : Gene trapped(34)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 120,325,038 V1638M probably damaging Het
Agrn C T 4: 156,174,179 R972Q probably benign Het
Anxa3 T C 5: 96,824,994 probably benign Het
Bpifa6 G T 2: 153,987,158 D202Y probably damaging Het
Ccdc15 G A 9: 37,315,640 T346I probably damaging Homo
Celsr3 G A 9: 108,835,067 R1731H probably benign Het
Ces4a A G 8: 105,147,227 R443G possibly damaging Het
Chd2 T C 7: 73,507,872 Q175R possibly damaging Het
Dpyd T A 3: 118,804,134 probably null Het
Dscam G T 16: 97,056,460 H117N possibly damaging Het
F13a1 A G 13: 36,972,025 Y205H probably damaging Het
Fat3 A C 9: 16,006,789 L1446R probably damaging Homo
Golga4 T C 9: 118,553,457 L515S probably damaging Het
Hoxb1 A T 11: 96,365,902 T26S probably benign Het
Igsf10 T G 3: 59,331,060 T567P probably damaging Het
Lamb2 T C 9: 108,482,556 V365A probably benign Het
Mepe A G 5: 104,337,376 I127M possibly damaging Het
Mpi A T 9: 57,546,549 M230K probably benign Homo
Myh4 A G 11: 67,255,457 D1447G probably null Homo
Olfr161 A G 16: 3,593,163 I256V possibly damaging Het
Olfr350 A G 2: 36,850,807 T254A probably benign Het
Panx2 T C 15: 89,068,010 Y227H probably damaging Homo
Pdzd7 A G 19: 45,036,734 W441R probably damaging Het
Pros1 T A 16: 62,924,639 V539E probably damaging Het
Sacs T C 14: 61,212,976 M4157T probably benign Het
Slc45a3 A G 1: 131,981,337 E424G probably benign Homo
Slc9a1 A G 4: 133,422,146 E761G probably benign Homo
Stab2 G A 10: 86,855,171 P2178L probably damaging Het
Syt4 C T 18: 31,444,221 V27I possibly damaging Homo
Thumpd1 T A 7: 119,720,576 K56* probably null Het
Tpr A G 1: 150,393,562 K19E possibly damaging Homo
Ttll10 A G 4: 156,048,318 I74T probably benign Het
Txnrd1 C T 10: 82,866,989 Q95* probably null Homo
Zc3h7b A G 15: 81,778,671 E421G possibly damaging Homo
Zc3hc1 G T 6: 30,387,526 D51E probably benign Homo
Other mutations in Poldip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Poldip2 APN 11 78512307 unclassified probably benign
IGL02119:Poldip2 APN 11 78517908 missense probably damaging 1.00
IGL02565:Poldip2 APN 11 78517852 missense probably damaging 1.00
IGL02735:Poldip2 APN 11 78512336 missense probably benign 0.04
IGL03115:Poldip2 APN 11 78521144
IGL02980:Poldip2 UTSW 11 78521228 missense probably damaging 1.00
R0255:Poldip2 UTSW 11 78512363 missense probably benign 0.02
R0932:Poldip2 UTSW 11 78512468 missense possibly damaging 0.52
R1014:Poldip2 UTSW 11 78515162 missense probably damaging 1.00
R4797:Poldip2 UTSW 11 78513987 missense probably damaging 1.00
R5505:Poldip2 UTSW 11 78515175 missense probably benign
R6285:Poldip2 UTSW 11 78517632 splice site probably null
Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at position 817 of the Poldip2 transcript in exon 9 of 11 total exons.  Multiple transcripts of the Poldip2 gene are displayed on Ensembl. The mutated nucleotide causes an isoleucine to methionine substitution at amino acid 267 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction
The Poldip2gene encodes a 368 amino acid nuclear protein that interacts with PCNA and POLD2 (polymerase delta 2) and contains a protein-interacting ApaG domain at amino acids 235-360 (Uniprot Q91VA6). 
 
The I267M change is predicted to be possibly damaging by the PolyPhen program.
Posted On2010-05-03