Incidental Mutation 'R2155:Polg'
ID 234717
Institutional Source Beutler Lab
Gene Symbol Polg
Ensembl Gene ENSMUSG00000039176
Gene Name polymerase (DNA directed), gamma
Synonyms Polga, Pol gamma, mitochondrial DNA polymerase gamma, mitochondrial DNA polymerase-gamma, polymerase gamma
MMRRC Submission 040158-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2155 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 79095979-79116110 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79111468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 261 (I261T)
Ref Sequence ENSEMBL: ENSMUSP00000073551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073889] [ENSMUST00000125562] [ENSMUST00000132048] [ENSMUST00000149444]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000073889
AA Change: I261T

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073551
Gene: ENSMUSG00000039176
AA Change: I261T

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
low complexity region 131 149 N/A INTRINSIC
low complexity region 478 493 N/A INTRINSIC
POLAc 849 1123 2.23e-107 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125562
SMART Domains Protein: ENSMUSP00000143813
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
PDB:3IKM|D 53 106 8e-25 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127082
Predicted Effect probably benign
Transcript: ENSMUST00000132048
SMART Domains Protein: ENSMUSP00000143933
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
PDB:3IKM|D 53 203 2e-71 PDB
SCOP:d1qm9a1 76 122 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139668
SMART Domains Protein: ENSMUSP00000114414
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
PDB:3IKM|D 13 236 1e-125 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142915
Predicted Effect possibly damaging
Transcript: ENSMUST00000149444
AA Change: I261T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119616
Gene: ENSMUSG00000039176
AA Change: I261T

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
PDB:3IKM|D 53 490 N/A PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205285
Predicted Effect probably benign
Transcript: ENSMUST00000143672
SMART Domains Protein: ENSMUSP00000122286
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
PDB:3IKM|D 2 243 1e-117 PDB
SCOP:d1t7pa2 141 243 1e-10 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous proof-reading deficient mutants display reduced life spans and premature aging with weight loss, decreased subcutaneous fat, alopecia, kyphosis, osteoporosis, anemia, reduced fertility, and enlarged hearts. Homozygous null mice display embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A G 16: 16,939,260 (GRCm39) L41P probably damaging Het
Aff4 C T 11: 53,290,446 (GRCm39) L469F probably damaging Het
AI182371 G A 2: 34,975,366 (GRCm39) H288Y probably benign Het
AK157302 A T 13: 21,679,827 (GRCm39) K118* probably null Het
Arhgef2 G A 3: 88,543,351 (GRCm39) R454Q probably damaging Het
Asb17 C T 3: 153,550,322 (GRCm39) T118M probably damaging Het
Atp7b A G 8: 22,503,600 (GRCm39) V718A possibly damaging Het
Cdca2 A G 14: 67,952,287 (GRCm39) L28S probably damaging Het
Cdh20 G T 1: 109,976,594 (GRCm39) L86F probably damaging Het
Cela2a A T 4: 141,545,350 (GRCm39) probably null Het
Cers3 T A 7: 66,433,162 (GRCm39) Y160N probably damaging Het
Chmp2b A G 16: 65,343,877 (GRCm39) V56A probably benign Het
Cryl1 A G 14: 57,635,880 (GRCm39) V9A unknown Het
Dmbt1 A T 7: 130,699,305 (GRCm39) H978L possibly damaging Het
Dnm1 C T 2: 32,204,949 (GRCm39) V673M probably damaging Het
Dtx4 T A 19: 12,462,646 (GRCm39) K378* probably null Het
Extl1 A T 4: 134,090,491 (GRCm39) M328K possibly damaging Het
Fcgbp T C 7: 27,806,628 (GRCm39) S2199P probably benign Het
Glis3 G T 19: 28,508,702 (GRCm39) N427K probably benign Het
Hdac7 T C 15: 97,691,944 (GRCm39) K810E probably benign Het
Hesx1 A G 14: 26,723,434 (GRCm39) E88G probably benign Het
Hmcn2 A T 2: 31,350,361 (GRCm39) Q5086L possibly damaging Het
Ier3 A G 17: 36,133,101 (GRCm39) T128A probably benign Het
Igsf10 G T 3: 59,239,101 (GRCm39) T360K probably damaging Het
Ilkap A C 1: 91,312,345 (GRCm39) C2G possibly damaging Het
Itih1 A G 14: 30,660,028 (GRCm39) F231S probably damaging Het
Jrkl A T 9: 13,244,913 (GRCm39) Y249* probably null Het
Kat6a AGAGGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAG 8: 23,425,663 (GRCm39) probably benign Het
Katnal2 A T 18: 77,098,637 (GRCm39) S184R probably benign Het
Kcnh5 T A 12: 74,945,230 (GRCm39) probably null Het
Kcnj11 G T 7: 45,748,781 (GRCm39) L181I probably damaging Het
Klhl2 T C 8: 65,202,804 (GRCm39) T465A probably benign Het
Krt90 T A 15: 101,471,046 (GRCm39) Y72F probably benign Het
Lig4 G A 8: 10,022,766 (GRCm39) T338I probably benign Het
Lrrc37 T C 11: 103,511,285 (GRCm39) T228A unknown Het
Magel2 T C 7: 62,030,540 (GRCm39) V1148A unknown Het
Mak C A 13: 41,186,020 (GRCm39) E549D probably benign Het
Marf1 G T 16: 13,950,293 (GRCm39) S1001Y probably damaging Het
Mcoln1 G A 8: 3,561,787 (GRCm39) V446I probably damaging Het
Meig1 T C 2: 3,410,290 (GRCm39) N70S probably benign Het
Mfsd14a G A 3: 116,441,479 (GRCm39) T108I probably damaging Het
Mocs1 G A 17: 49,761,386 (GRCm39) M493I probably damaging Het
Mrpl11 C A 19: 5,012,497 (GRCm39) A26E probably damaging Het
Myh6 A T 14: 55,191,251 (GRCm39) D863E probably benign Het
Myom2 T A 8: 15,134,555 (GRCm39) Y453N probably damaging Het
Nhlh1 A G 1: 171,881,524 (GRCm39) I114T probably damaging Het
Odr4 A G 1: 150,258,086 (GRCm39) V183A possibly damaging Het
Or12j4 A C 7: 140,046,504 (GRCm39) H130P probably benign Het
Or2y3 G T 17: 38,393,071 (GRCm39) P266Q probably damaging Het
Or4k5 A T 14: 50,386,154 (GRCm39) M59K probably damaging Het
Or5k17 G T 16: 58,746,486 (GRCm39) F149L probably benign Het
Or5p80 C G 7: 108,229,984 (GRCm39) P262A probably damaging Het
Pclo T C 5: 14,764,309 (GRCm39) S976P probably benign Het
Pde3a G A 6: 141,429,640 (GRCm39) E734K possibly damaging Het
Pdzd2 A T 15: 12,375,879 (GRCm39) S1419T probably benign Het
Pdzd8 T A 19: 59,288,853 (GRCm39) Y849F probably damaging Het
Phldb3 A G 7: 24,312,070 (GRCm39) E128G probably damaging Het
Ppp1r35 T C 5: 137,778,267 (GRCm39) M254T probably benign Het
Ppp3ca G T 3: 136,596,211 (GRCm39) R292M possibly damaging Het
Ptk7 T A 17: 46,890,543 (GRCm39) T430S probably benign Het
Ptrh1 T A 2: 32,667,040 (GRCm39) N144K possibly damaging Het
Rbfox1 A G 16: 7,111,946 (GRCm39) T211A possibly damaging Het
Rbpjl A G 2: 164,256,343 (GRCm39) D443G possibly damaging Het
Rcc1 A G 4: 132,065,360 (GRCm39) probably null Het
Rimbp2 G T 5: 128,865,229 (GRCm39) S706R probably damaging Het
Rsph10b G C 5: 143,898,074 (GRCm39) E96D probably benign Het
Scn10a A T 9: 119,438,514 (GRCm39) I1784K probably benign Het
Sfxn2 A G 19: 46,579,985 (GRCm39) probably null Het
Slamf6 T A 1: 171,765,575 (GRCm39) L233Q probably damaging Het
Slc17a5 A T 9: 78,484,455 (GRCm39) Y102N probably damaging Het
Slc25a53 T C X: 135,884,216 (GRCm39) T42A probably damaging Het
Slco1a8 T C 6: 141,926,670 (GRCm39) D552G probably damaging Het
Smg7 G A 1: 152,716,064 (GRCm39) T1057I possibly damaging Het
Speer2 T A 16: 69,657,485 (GRCm39) T53S possibly damaging Het
Srm A C 4: 148,676,948 (GRCm39) I100L probably benign Het
Stoml3 A C 3: 53,415,008 (GRCm39) N267H probably damaging Het
Thsd7a A C 6: 12,379,632 (GRCm39) C931G probably damaging Het
Tlr11 A G 14: 50,598,139 (GRCm39) I42V probably benign Het
Tmigd1 T C 11: 76,800,999 (GRCm39) V162A probably benign Het
Tmx3 A G 18: 90,528,505 (GRCm39) probably null Het
Topors T A 4: 40,262,790 (GRCm39) R165W possibly damaging Het
Ttc17 A T 2: 94,196,987 (GRCm39) S453R possibly damaging Het
Vmn1r49 G T 6: 90,049,441 (GRCm39) T187N probably damaging Het
Zbtb49 A T 5: 38,371,464 (GRCm39) V139E possibly damaging Het
Zfp11 T C 5: 129,734,216 (GRCm39) H415R probably damaging Het
Zfp677 A T 17: 21,617,970 (GRCm39) K342N probably benign Het
Zfp979 A C 4: 147,697,915 (GRCm39) C265G possibly damaging Het
Zfpl1 T C 19: 6,134,459 (GRCm39) R9G probably damaging Het
Zkscan8 A T 13: 21,704,759 (GRCm39) C321* probably null Het
Other mutations in Polg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Polg APN 7 79,101,673 (GRCm39) missense probably damaging 1.00
IGL00970:Polg APN 7 79,101,493 (GRCm39) missense probably benign 0.01
IGL01883:Polg APN 7 79,108,066 (GRCm39) missense probably damaging 1.00
IGL02124:Polg APN 7 79,109,485 (GRCm39) missense probably damaging 1.00
IGL02127:Polg APN 7 79,107,915 (GRCm39) unclassified probably benign
IGL02820:Polg APN 7 79,109,519 (GRCm39) missense possibly damaging 0.92
IGL03075:Polg APN 7 79,101,660 (GRCm39) missense probably damaging 1.00
IGL03180:Polg APN 7 79,101,601 (GRCm39) splice site probably benign
IGL03198:Polg APN 7 79,101,470 (GRCm39) missense probably damaging 1.00
IGL03222:Polg APN 7 79,104,404 (GRCm39) missense probably damaging 0.98
R0030:Polg UTSW 7 79,101,876 (GRCm39) missense probably damaging 1.00
R0064:Polg UTSW 7 79,111,632 (GRCm39) missense probably damaging 1.00
R0064:Polg UTSW 7 79,111,632 (GRCm39) missense probably damaging 1.00
R0416:Polg UTSW 7 79,101,988 (GRCm39) unclassified probably benign
R0522:Polg UTSW 7 79,109,899 (GRCm39) splice site probably benign
R0638:Polg UTSW 7 79,109,896 (GRCm39) splice site probably benign
R1263:Polg UTSW 7 79,109,534 (GRCm39) missense probably benign
R1831:Polg UTSW 7 79,109,518 (GRCm39) missense probably benign 0.41
R1873:Polg UTSW 7 79,106,241 (GRCm39) missense probably benign 0.04
R1906:Polg UTSW 7 79,110,070 (GRCm39) missense probably damaging 1.00
R1997:Polg UTSW 7 79,108,979 (GRCm39) missense probably damaging 1.00
R2127:Polg UTSW 7 79,114,676 (GRCm39) missense probably damaging 1.00
R2156:Polg UTSW 7 79,111,468 (GRCm39) missense possibly damaging 0.94
R2173:Polg UTSW 7 79,105,341 (GRCm39) missense probably damaging 0.99
R3720:Polg UTSW 7 79,106,539 (GRCm39) nonsense probably null
R4082:Polg UTSW 7 79,114,576 (GRCm39) missense probably damaging 1.00
R4127:Polg UTSW 7 79,105,285 (GRCm39) missense probably damaging 1.00
R4510:Polg UTSW 7 79,105,270 (GRCm39) missense probably benign 0.01
R4511:Polg UTSW 7 79,105,270 (GRCm39) missense probably benign 0.01
R4571:Polg UTSW 7 79,110,127 (GRCm39) missense probably damaging 1.00
R4888:Polg UTSW 7 79,114,353 (GRCm39) missense probably damaging 1.00
R5008:Polg UTSW 7 79,109,822 (GRCm39) missense probably damaging 1.00
R5095:Polg UTSW 7 79,110,048 (GRCm39) missense possibly damaging 0.92
R5121:Polg UTSW 7 79,114,353 (GRCm39) missense probably damaging 1.00
R5139:Polg UTSW 7 79,099,773 (GRCm39) missense probably damaging 1.00
R5213:Polg UTSW 7 79,103,846 (GRCm39) missense probably damaging 1.00
R5285:Polg UTSW 7 79,114,973 (GRCm39) utr 5 prime probably benign
R5498:Polg UTSW 7 79,104,418 (GRCm39) missense probably damaging 1.00
R5714:Polg UTSW 7 79,101,739 (GRCm39) missense possibly damaging 0.53
R5940:Polg UTSW 7 79,103,819 (GRCm39) missense possibly damaging 0.95
R6146:Polg UTSW 7 79,100,260 (GRCm39) missense probably benign 0.02
R6754:Polg UTSW 7 79,109,584 (GRCm39) missense probably damaging 1.00
R6791:Polg UTSW 7 79,109,857 (GRCm39) missense probably benign 0.25
R6829:Polg UTSW 7 79,109,857 (GRCm39) missense probably benign 0.25
R6913:Polg UTSW 7 79,110,405 (GRCm39) missense probably damaging 0.97
R7644:Polg UTSW 7 79,101,416 (GRCm39) missense probably damaging 1.00
R7879:Polg UTSW 7 79,100,392 (GRCm39) missense probably benign 0.22
R8174:Polg UTSW 7 79,106,466 (GRCm39) missense probably benign 0.10
R8443:Polg UTSW 7 79,114,743 (GRCm39) missense probably benign
R9176:Polg UTSW 7 79,109,857 (GRCm39) missense probably benign 0.25
R9181:Polg UTSW 7 79,104,421 (GRCm39) missense probably damaging 1.00
R9303:Polg UTSW 7 79,105,860 (GRCm39) missense probably benign 0.02
R9305:Polg UTSW 7 79,105,860 (GRCm39) missense probably benign 0.02
R9323:Polg UTSW 7 79,114,786 (GRCm39) frame shift probably null
R9323:Polg UTSW 7 79,114,779 (GRCm39) frame shift probably null
R9331:Polg UTSW 7 79,108,148 (GRCm39) missense probably damaging 1.00
Z1176:Polg UTSW 7 79,103,489 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTTCTGGAGATCAGCAGCTG -3'
(R):5'- GGTAACCCTGTCCACTCTTG -3'

Sequencing Primer
(F):5'- TCAGCAGCTGAGCAGAGATC -3'
(R):5'- GTCCACTCTTGCCTCTTTCAGG -3'
Posted On 2014-10-01