Incidental Mutation 'IGL02205:Polg2'
ID284444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polg2
Ensembl Gene ENSMUSG00000020718
Gene Namepolymerase (DNA directed), gamma 2, accessory subunit
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02205
Quality Score
Status
Chromosome11
Chromosomal Location106768253-106779537 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106779120 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 108 (E108G)
Ref Sequence ENSEMBL: ENSMUSP00000118975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021060] [ENSMUST00000021062] [ENSMUST00000126201] [ENSMUST00000127061] [ENSMUST00000127481] [ENSMUST00000133426] [ENSMUST00000134029] [ENSMUST00000155107]
Predicted Effect probably benign
Transcript: ENSMUST00000021060
AA Change: E108G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000021060
Gene: ENSMUSG00000020718
AA Change: E108G

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
SCOP:d1g5ha2 41 330 4e-36 SMART
Pfam:HGTP_anticodon 354 452 3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000021062
SMART Domains Protein: ENSMUSP00000021062
Gene: ENSMUSG00000020719

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Blast:DEXDc 24 86 9e-31 BLAST
DEXDc 113 316 7.67e-64 SMART
HELICc 355 436 3.57e-32 SMART
low complexity region 477 496 N/A INTRINSIC
Pfam:P68HR 498 532 8e-20 PFAM
Pfam:P68HR 551 583 5.2e-20 PFAM
low complexity region 592 603 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106779
SMART Domains Protein: ENSMUSP00000102391
Gene: ENSMUSG00000020719

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Blast:DEXDc 24 86 3e-38 BLAST
PDB:4A4D|A 52 86 4e-17 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000126201
AA Change: E108G

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000116583
Gene: ENSMUSG00000020718
AA Change: E108G

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDB:1G5I|D 17 134 2e-70 PDB
SCOP:d1g5ha2 41 130 8e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127061
AA Change: E108G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000117441
Gene: ENSMUSG00000020718
AA Change: E108G

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDB:1G5I|D 17 170 1e-100 PDB
SCOP:d1g5ha2 41 163 1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127481
SMART Domains Protein: ENSMUSP00000138184
Gene: ENSMUSG00000020719

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Blast:DEXDc 24 70 2e-26 BLAST
PDB:4A4D|A 52 70 3e-7 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130172
Predicted Effect probably benign
Transcript: ENSMUST00000133426
SMART Domains Protein: ENSMUSP00000138237
Gene: ENSMUSG00000020719

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Blast:DEXDc 24 86 2e-31 BLAST
DEXDc 113 316 7.67e-64 SMART
Pfam:Helicase_C 359 406 1.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134029
AA Change: E108G

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122755
Gene: ENSMUSG00000020718
AA Change: E108G

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDB:1G5I|D 17 122 3e-69 PDB
SCOP:d1g5ha2 41 120 3e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155107
AA Change: E108G

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000118975
Gene: ENSMUSG00000020718
AA Change: E108G

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDB:1G5I|D 17 122 3e-69 PDB
SCOP:d1g5ha2 41 120 3e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175532
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 the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between somite formation and turning, fail to initiate turning, lack mt-Co1 activity, and contain abnormal mitochondria with reduced mtDNA. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid T G 11: 117,835,156 L150R probably damaging Het
Ankrd27 T G 7: 35,616,939 D543E probably damaging Het
Anks1b T G 10: 90,071,094 L258V probably benign Het
Cacna1i T C 15: 80,372,951 F1087S probably benign Het
Chd2 A T 7: 73,441,717 I1592K probably benign Het
Cmip G A 8: 117,454,975 V674I probably damaging Het
Col4a2 C T 8: 11,431,305 Q826* probably null Het
Ctdsp1 C T 1: 74,393,834 A92V possibly damaging Het
Dnajc10 T A 2: 80,349,358 S745R possibly damaging Het
Dpp4 T C 2: 62,352,257 Y560C probably damaging Het
Fbxl6 A G 15: 76,537,341 M232T probably benign Het
Gm5414 A G 15: 101,625,869 F267L probably benign Het
Heatr5a A G 12: 51,877,337 I2031T probably damaging Het
Hmcn2 T G 2: 31,400,127 V2324G probably damaging Het
Hnmt A T 2: 24,019,145 N85K probably damaging Het
Kcng4 G T 8: 119,626,083 R363S probably damaging Het
Kif18a T C 2: 109,307,018 probably benign Het
Lrrc8b A T 5: 105,481,837 Y683F probably benign Het
Mepce G T 5: 137,784,495 T523K probably benign Het
Mroh1 T C 15: 76,437,239 V1040A possibly damaging Het
Myof A G 19: 37,924,635 Y1470H probably damaging Het
Olfr469 A G 7: 107,822,591 Y293H probably damaging Het
Otol1 T C 3: 70,018,596 S35P probably benign Het
P4htm T C 9: 108,581,962 D257G probably benign Het
Pcdhb15 A G 18: 37,473,957 T81A probably damaging Het
Rfx7 T A 9: 72,607,650 H143Q probably damaging Het
Sf3b2 A G 19: 5,283,737 V611A probably benign Het
Slc10a7 G T 8: 78,697,303 K203N probably benign Het
Slc12a5 T A 2: 164,996,479 V1046D probably benign Het
Tacc2 A T 7: 130,626,682 D1718V probably damaging Het
Unc79 T A 12: 103,079,001 I812N probably damaging Het
Vps13c A G 9: 67,883,454 Y338C probably damaging Het
Wdr17 T C 8: 54,696,300 Y31C probably damaging Het
Zfp654 A T 16: 64,785,966 N624K probably damaging Het
Other mutations in Polg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Polg2 APN 11 106777432 splice site probably null
IGL02850:Polg2 APN 11 106768467 missense probably damaging 1.00
IGL02952:Polg2 APN 11 106772713 missense possibly damaging 0.78
IGL03328:Polg2 APN 11 106768337 missense probably benign 0.40
IGL02835:Polg2 UTSW 11 106775440 missense probably benign
R0109:Polg2 UTSW 11 106777132 splice site probably benign
R0143:Polg2 UTSW 11 106777526 missense probably benign 0.01
R0709:Polg2 UTSW 11 106768413 missense probably damaging 1.00
R1385:Polg2 UTSW 11 106768323 missense probably damaging 0.97
R1938:Polg2 UTSW 11 106778961 missense probably damaging 0.98
R2872:Polg2 UTSW 11 106775425 critical splice donor site probably null
R2872:Polg2 UTSW 11 106775425 critical splice donor site probably null
R3159:Polg2 UTSW 11 106768337 missense probably benign 0.40
R3776:Polg2 UTSW 11 106779284 missense probably benign 0.01
R3982:Polg2 UTSW 11 106779202 nonsense probably null
R5306:Polg2 UTSW 11 106778970 missense probably damaging 0.98
R5338:Polg2 UTSW 11 106779238 missense possibly damaging 0.95
R7055:Polg2 UTSW 11 106777214 missense probably damaging 1.00
R7146:Polg2 UTSW 11 106772746 missense probably benign 0.01
R7464:Polg2 UTSW 11 106773714 missense probably benign 0.08
R7645:Polg2 UTSW 11 106775593 missense probably benign
Z1176:Polg2 UTSW 11 106773429 missense probably damaging 1.00
Posted On2015-04-16