Incidental Mutation 'R4797:Poldip2'
ID 369154
Institutional Source Beutler Lab
Gene Symbol Poldip2
Ensembl Gene ENSMUSG00000001100
Gene Name polymerase (DNA-directed), delta interacting protein 2
Synonyms 1300003F06Rik, mitogenin 1
MMRRC Submission 042421-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4797 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 78403105-78413562 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78404813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 77 (Y77N)
Ref Sequence ENSEMBL: ENSMUSP00000001127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001127] [ENSMUST00000052566]
AlphaFold Q91VA6
Predicted Effect probably damaging
Transcript: ENSMUST00000001127
AA Change: Y77N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
AA Change: Y77N

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: ENSMUST00000052566
SMART Domains Protein: ENSMUSP00000058599
Gene: ENSMUSG00000051232

DomainStartEndE-ValueType
Pfam:Vma12 78 204 1e-29 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000133601
AA Change: Y42N
SMART Domains Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100
AA Change: Y42N

DomainStartEndE-ValueType
YccV-like 40 176 1.03e-39 SMART
Pfam:DUF525 218 278 4.9e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151499
Meta Mutation Damage Score 0.2275 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 96% (69/72)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,008,945 (GRCm39) T1195A probably benign Het
Apobr G A 7: 126,186,756 (GRCm39) E756K probably benign Het
Arpc3 A G 5: 122,542,215 (GRCm39) E77G possibly damaging Het
Atp2b2 A T 6: 113,766,847 (GRCm39) M464K possibly damaging Het
Atxn7l2 A G 3: 108,111,866 (GRCm39) S379P probably damaging Het
Ccdc91 A T 6: 147,493,641 (GRCm39) E344D unknown Het
Cdc42bpg G A 19: 6,370,477 (GRCm39) R1190Q probably damaging Het
Cdh17 C A 4: 11,810,390 (GRCm39) Q694K probably benign Het
Chordc1 G T 9: 18,203,672 (GRCm39) probably benign Het
Copg1 A G 6: 87,880,450 (GRCm39) probably benign Het
Dcbld1 T C 10: 52,160,223 (GRCm39) V37A probably damaging Het
Ddb2 A G 2: 91,067,163 (GRCm39) probably benign Het
Dok5 A T 2: 170,672,042 (GRCm39) R115* probably null Het
Drc7 T C 8: 95,800,925 (GRCm39) I649T probably damaging Het
Efr3a A G 15: 65,729,437 (GRCm39) T713A probably damaging Het
Epg5 G A 18: 78,073,614 (GRCm39) D2494N probably benign Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Glb1l3 T C 9: 26,739,742 (GRCm39) D356G probably damaging Het
Gm1818 A T 12: 48,602,393 (GRCm39) noncoding transcript Het
Gsta5 A T 9: 78,211,679 (GRCm39) Y147F probably benign Het
Hcrtr2 C A 9: 76,161,816 (GRCm39) M191I probably damaging Het
Heatr1 G A 13: 12,426,929 (GRCm39) E685K probably benign Het
Hsd3b2 A T 3: 98,618,979 (GRCm39) L322Q probably damaging Het
Hsd3b9 T A 3: 98,363,747 (GRCm39) R62* probably null Het
Htra4 T C 8: 25,523,675 (GRCm39) T297A probably damaging Het
Il22 C A 10: 118,041,058 (GRCm39) R55S probably damaging Het
Ints1 G A 5: 139,757,631 (GRCm39) T324M possibly damaging Het
Ints15 A G 5: 143,297,504 (GRCm39) F181S probably benign Het
Ints7 T C 1: 191,329,045 (GRCm39) V268A probably damaging Het
Kctd20 G A 17: 29,185,766 (GRCm39) V370I probably damaging Het
Lama1 T A 17: 68,023,770 (GRCm39) M55K probably benign Het
Larp1 C A 11: 57,938,806 (GRCm39) S494* probably null Het
Ldb3 A T 14: 34,277,470 (GRCm39) H262Q possibly damaging Het
Lepr C A 4: 101,637,244 (GRCm39) T711K possibly damaging Het
Mon2 T C 10: 122,852,422 (GRCm39) I984V probably benign Het
Naip2 T A 13: 100,298,243 (GRCm39) S598C probably damaging Het
Oasl1 A G 5: 115,066,217 (GRCm39) M112V probably benign Het
Or2d2b A T 7: 106,705,234 (GRCm39) M278K probably benign Het
Or6c214 A T 10: 129,590,390 (GRCm39) S310T probably benign Het
Or7c19 G T 8: 85,957,567 (GRCm39) A148S probably benign Het
P2ry1 T A 3: 60,910,881 (GRCm39) S7T probably benign Het
Pidd1 G T 7: 141,022,899 (GRCm39) R98S possibly damaging Het
Pkd1l1 A C 11: 8,911,340 (GRCm39) F312L unknown Het
Pla2r1 A T 2: 60,334,524 (GRCm39) M416K possibly damaging Het
Pold1 T C 7: 44,191,325 (GRCm39) E194G possibly damaging Het
Ppp2r3d G T 9: 101,089,179 (GRCm39) N381K probably benign Het
Prrc2a G A 17: 35,369,018 (GRCm39) P2006L probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rsu1 A G 2: 13,221,537 (GRCm39) probably benign Het
Selenoi T A 5: 30,457,740 (GRCm39) W90R probably damaging Het
Spag17 T A 3: 99,891,795 (GRCm39) D216E possibly damaging Het
Spata31 C A 13: 65,070,556 (GRCm39) Y901* probably null Het
Ssrp1 T A 2: 84,876,066 (GRCm39) Y607* probably null Het
Stk10 T A 11: 32,548,471 (GRCm39) N346K probably benign Het
Surf1 G T 2: 26,806,358 (GRCm39) probably benign Het
Synj2 A T 17: 6,084,163 (GRCm39) E283V probably damaging Het
Tg G A 15: 66,629,855 (GRCm39) probably null Het
Traf1 A T 2: 34,846,289 (GRCm39) D42E probably benign Het
Ttn T C 2: 76,571,209 (GRCm39) I26561M probably damaging Het
Ubp1 T C 9: 113,785,070 (GRCm39) Y128H probably damaging Het
Vmn1r216 T A 13: 23,283,506 (GRCm39) I63K probably benign Het
Vmn1r49 T A 6: 90,049,612 (GRCm39) H130L probably benign Het
Vmn2r90 C T 17: 17,932,567 (GRCm39) T158I probably damaging Het
Vps13d T C 4: 144,780,725 (GRCm39) S885G probably damaging Het
Other mutations in Poldip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Poldip2 APN 11 78,403,133 (GRCm39) unclassified probably benign
IGL02119:Poldip2 APN 11 78,408,734 (GRCm39) missense probably damaging 1.00
IGL02565:Poldip2 APN 11 78,408,678 (GRCm39) missense probably damaging 1.00
IGL02735:Poldip2 APN 11 78,403,162 (GRCm39) missense probably benign 0.04
IGL03115:Poldip2 APN 11 78,411,970 (GRCm39) splice site probably benign
F6893:Poldip2 UTSW 11 78,410,020 (GRCm39) missense probably damaging 1.00
IGL02980:Poldip2 UTSW 11 78,412,054 (GRCm39) missense probably damaging 1.00
R0255:Poldip2 UTSW 11 78,403,189 (GRCm39) missense probably benign 0.02
R0932:Poldip2 UTSW 11 78,403,294 (GRCm39) missense possibly damaging 0.52
R1014:Poldip2 UTSW 11 78,405,988 (GRCm39) missense probably damaging 1.00
R5505:Poldip2 UTSW 11 78,406,001 (GRCm39) missense probably benign
R6285:Poldip2 UTSW 11 78,408,458 (GRCm39) splice site probably null
R8917:Poldip2 UTSW 11 78,412,667 (GRCm39) missense probably damaging 1.00
R9480:Poldip2 UTSW 11 78,411,988 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGGAAAAGCAGCATCCTG -3'
(R):5'- AACTTGGGGTGTAGCTCAGC -3'

Sequencing Primer
(F):5'- CCTGACCCTGCAGAGTACTAG -3'
(R):5'- GTGTAGCTCAGCAGATGGC -3'
Posted On 2016-02-04