Incidental Mutation 'R5008:Polg'
ID 390285
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 042599-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5008 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 79095979-79116110 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 79109822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 394 (P394T)
Ref Sequence ENSEMBL: ENSMUSP00000119616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073889] [ENSMUST00000125562] [ENSMUST00000132048] [ENSMUST00000149444]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000073889
AA Change: P394T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073551
Gene: ENSMUSG00000039176
AA Change: P394T

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 noncoding transcript
Transcript: ENSMUST00000127734
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 noncoding transcript
Transcript: ENSMUST00000139597
Predicted Effect probably damaging
Transcript: ENSMUST00000149444
AA Change: P394T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119616
Gene: ENSMUSG00000039176
AA Change: P394T

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
PDB:3IKM|D 53 490 N/A PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201557
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 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
Meta Mutation Damage Score 0.8539 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 97% (73/75)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C G 7: 27,278,192 (GRCm39) T242R probably damaging Het
2310057N15Rik A G 16: 88,570,663 (GRCm39) Y126H probably damaging Het
Catsperg1 A T 7: 28,894,859 (GRCm39) Y579* probably null Het
Chchd5 A T 2: 128,972,319 (GRCm39) probably null Het
Chd1l T C 3: 97,491,224 (GRCm39) N423D probably damaging Het
Cntnap1 G A 11: 101,079,567 (GRCm39) W1268* probably null Het
Col2a1 G A 15: 97,877,550 (GRCm39) A1011V probably benign Het
Cst11 A G 2: 148,612,325 (GRCm39) I104T probably benign Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dnaaf4 T C 9: 72,879,600 (GRCm39) probably benign Het
Dnah17 A G 11: 118,001,403 (GRCm39) F847L probably benign Het
Dspp A T 5: 104,323,439 (GRCm39) H194L possibly damaging Het
Dync2i2 C A 2: 29,922,781 (GRCm39) R322L probably benign Het
Frmd5 C A 2: 121,379,341 (GRCm39) R414L probably damaging Het
Galnt3 C A 2: 65,915,585 (GRCm39) R592L probably benign Het
Gm38706 T A 6: 130,461,580 (GRCm39) noncoding transcript Het
Gm38706 T A 6: 130,461,983 (GRCm39) noncoding transcript Het
Hivep3 A G 4: 119,956,114 (GRCm39) K1477E probably benign Het
Igsf3 C T 3: 101,358,233 (GRCm39) T708M probably damaging Het
Ikzf4 T G 10: 128,477,119 (GRCm39) E64A probably benign Het
Klhl28 C T 12: 65,004,001 (GRCm39) E171K probably damaging Het
Krt87 T A 15: 101,389,105 (GRCm39) I76F probably damaging Het
Lat2 A G 5: 134,631,991 (GRCm39) V152A probably benign Het
Lrp12 C T 15: 39,741,852 (GRCm39) D288N probably damaging Het
Mdp1 C T 14: 55,896,683 (GRCm39) R126Q probably damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Myh4 T A 11: 67,144,358 (GRCm39) S1243T probably benign Het
Myo3b T A 2: 70,088,412 (GRCm39) F892I probably damaging Het
Nckap5l T C 15: 99,323,731 (GRCm39) N924S possibly damaging Het
Npnt C T 3: 132,612,218 (GRCm39) C218Y probably damaging Het
Or2a20 T A 6: 43,193,991 (GRCm39) I48N probably damaging Het
Or2d2b A T 7: 106,705,288 (GRCm39) M260K probably damaging Het
Or7a42 T A 10: 78,791,905 (GRCm39) F289I probably damaging Het
Pfkm G A 15: 98,020,570 (GRCm39) C233Y probably benign Het
Pigq A G 17: 26,153,177 (GRCm39) V338A probably benign Het
Pld4 A T 12: 112,734,484 (GRCm39) N415I possibly damaging Het
Pmm1 A T 15: 81,842,095 (GRCm39) probably null Het
Polq A T 16: 36,882,749 (GRCm39) I1359L probably benign Het
Pramel30 A G 4: 144,057,836 (GRCm39) S148G probably benign Het
Pros1 A G 16: 62,748,548 (GRCm39) N674D possibly damaging Het
Psme4 T A 11: 30,806,896 (GRCm39) probably benign Het
Rasa3 A T 8: 13,634,959 (GRCm39) C453* probably null Het
Repin1 T C 6: 48,573,542 (GRCm39) V101A probably damaging Het
Rnf186 A T 4: 138,694,540 (GRCm39) M27L probably benign Het
Rpa1 A G 11: 75,204,125 (GRCm39) probably null Het
Rph3a G T 5: 121,083,454 (GRCm39) N605K probably damaging Het
Rps18 A T 17: 34,171,258 (GRCm39) probably null Het
Scgn A G 13: 24,174,958 (GRCm39) I20T probably damaging Het
Skint6 A T 4: 112,848,452 (GRCm39) V652E possibly damaging Het
Slc23a2 T C 2: 131,943,414 (GRCm39) H29R probably damaging Het
Slc34a3 C T 2: 25,120,854 (GRCm39) V383I possibly damaging Het
Slc5a1 A G 5: 33,309,917 (GRCm39) M382V possibly damaging Het
Slc5a3 T A 16: 91,874,169 (GRCm39) S75R probably damaging Het
Stat5b G C 11: 100,693,309 (GRCm39) H111D probably benign Het
Tanc2 G A 11: 105,515,886 (GRCm39) M1I probably null Het
Tbcel C T 9: 42,327,419 (GRCm39) G328E probably damaging Het
Tecta C A 9: 42,284,358 (GRCm39) R909L possibly damaging Het
Tnip1 A T 11: 54,828,810 (GRCm39) M119K probably benign Het
Zbbx A C 3: 75,058,755 (GRCm39) S51A possibly damaging Het
Zc3h12c T C 9: 52,028,000 (GRCm39) N454S probably benign Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign 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
R2155:Polg UTSW 7 79,111,468 (GRCm39) missense possibly damaging 0.94
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
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'- GCTGCCATAAATGACCACAGG -3'
(R):5'- CAGCATGAGGGATATCCGAG -3'

Sequencing Primer
(F):5'- TGACCACAGGAGACAATCATTG -3'
(R):5'- TATCCGAGAGAACTTCCAGGTATG -3'
Posted On 2016-06-06