Incidental Mutation 'IGL02850:Polg2'
ID 361843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polg2
Ensembl Gene ENSMUSG00000020718
Gene Name polymerase (DNA directed), gamma 2, accessory subunit
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02850
Quality Score
Status
Chromosome 11
Chromosomal Location 106659079-106670363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106659293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 407 (D407N)
Ref Sequence ENSEMBL: ENSMUSP00000021060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021060] [ENSMUST00000086353] [ENSMUST00000106794] [ENSMUST00000127061] [ENSMUST00000134029] [ENSMUST00000182023] [ENSMUST00000147326] [ENSMUST00000182479] [ENSMUST00000183111] [ENSMUST00000182896] [ENSMUST00000182908] [ENSMUST00000155107]
AlphaFold Q9QZM2
PDB Structure CRYSTAL STRUCTURE OF THE ACCESSORY SUBUNIT OF MURINE MITOCHONDRIAL POLYMERASE GAMMA [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ACCESSORY SUBUNIT OF MURINE MITOCHONDRIAL POLYMERASE GAMMA [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000021060
AA Change: D407N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021060
Gene: ENSMUSG00000020718
AA Change: D407N

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: ENSMUST00000086353
SMART Domains Protein: ENSMUSP00000083538
Gene: ENSMUSG00000040528

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
IG 58 139 3.74e-3 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106794
SMART Domains Protein: ENSMUSP00000102406
Gene: ENSMUSG00000040528

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
IG 58 139 1.5e-5 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127061
SMART Domains Protein: ENSMUSP00000117441
Gene: ENSMUSG00000020718

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: ENSMUST00000134029
SMART Domains Protein: ENSMUSP00000122755
Gene: ENSMUSG00000020718

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: ENSMUST00000142590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157775
Predicted Effect probably benign
Transcript: ENSMUST00000182023
SMART Domains Protein: ENSMUSP00000138286
Gene: ENSMUSG00000040528

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
IG 58 139 3.74e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147326
SMART Domains Protein: ENSMUSP00000138742
Gene: ENSMUSG00000040528

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
IG 58 139 3.74e-3 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182479
SMART Domains Protein: ENSMUSP00000138386
Gene: ENSMUSG00000040528

DomainStartEndE-ValueType
Blast:IG 1 36 3e-19 BLAST
transmembrane domain 48 70 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183111
SMART Domains Protein: ENSMUSP00000138513
Gene: ENSMUSG00000040528

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
IG 58 139 3.74e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182896
SMART Domains Protein: ENSMUSP00000138617
Gene: ENSMUSG00000040528

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
IG 58 139 3.74e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182908
SMART Domains Protein: ENSMUSP00000138678
Gene: ENSMUSG00000040528

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
IG 58 139 3.74e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155107
SMART Domains Protein: ENSMUSP00000118975
Gene: ENSMUSG00000020718

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
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,843,993 (GRCm39) Y229C probably damaging Het
Adgrd1 A G 5: 129,192,119 (GRCm39) D63G probably damaging Het
Ahnak A G 19: 8,979,960 (GRCm39) T415A probably benign Het
Antxr2 A G 5: 98,151,937 (GRCm39) V178A probably damaging Het
Ap1s1 A G 5: 137,070,634 (GRCm39) Y127H possibly damaging Het
Bbs2 A T 8: 94,803,710 (GRCm39) M510K probably benign Het
Cbfa2t2 A G 2: 154,377,090 (GRCm39) N591S probably damaging Het
Chd6 T A 2: 160,861,536 (GRCm39) R504* probably null Het
Cnpy3 A G 17: 47,054,217 (GRCm39) probably benign Het
Cntn2 T G 1: 132,446,114 (GRCm39) K824T probably benign Het
Cntnap3 T C 13: 64,905,223 (GRCm39) T853A probably damaging Het
Cog4 G A 8: 111,593,221 (GRCm39) G444D possibly damaging Het
Col18a1 A T 10: 76,932,300 (GRCm39) I510N probably damaging Het
Cxcr5 G A 9: 44,425,403 (GRCm39) R85W probably damaging Het
Cyth3 C A 5: 143,672,259 (GRCm39) T58K probably damaging Het
Dio3 T C 12: 110,245,970 (GRCm39) V102A probably damaging Het
Dmbx1 G A 4: 115,775,204 (GRCm39) R359C probably damaging Het
Fam3d C T 14: 8,361,475 (GRCm38) probably null Het
Fras1 C A 5: 96,926,034 (GRCm39) P3746Q probably damaging Het
Glt1d1 T A 5: 127,721,409 (GRCm39) M32K probably benign Het
Hunk A G 16: 90,229,460 (GRCm39) N31S probably damaging Het
Ints11 T C 4: 155,959,761 (GRCm39) S123P probably benign Het
Izumo2 T C 7: 44,358,339 (GRCm39) L58S probably damaging Het
Izumo4 A G 10: 80,540,032 (GRCm39) probably benign Het
Kcnh7 T A 2: 62,618,029 (GRCm39) K487* probably null Het
Lrp12 T C 15: 39,741,971 (GRCm39) Y248C probably damaging Het
Maco1 T C 4: 134,555,697 (GRCm39) K259E probably benign Het
Map3k4 T C 17: 12,490,801 (GRCm39) D210G probably damaging Het
Mast4 T C 13: 102,890,740 (GRCm39) D1038G probably damaging Het
Noa1 T C 5: 77,442,338 (GRCm39) T651A probably benign Het
Nop2 A C 6: 125,121,048 (GRCm39) K610T possibly damaging Het
Nop2 G T 6: 125,121,033 (GRCm39) G605V probably benign Het
Npvf G A 6: 50,629,670 (GRCm39) R107W probably benign Het
Or10ad1b A G 15: 98,125,232 (GRCm39) V98A probably benign Het
Or2h2c T C 17: 37,422,865 (GRCm39) N3S probably benign Het
Oxr1 A G 15: 41,718,329 (GRCm39) T775A probably damaging Het
P2ry13 C T 3: 59,117,029 (GRCm39) A250T probably damaging Het
Pcsk9 A T 4: 106,316,062 (GRCm39) V127E probably damaging Het
Piezo2 G A 18: 63,153,704 (GRCm39) S2547F probably benign Het
Pinx1 A G 14: 64,156,609 (GRCm39) T179A probably damaging Het
Pjvk T C 2: 76,488,795 (GRCm39) V322A possibly damaging Het
Pla2r1 T A 2: 60,332,413 (GRCm39) R476S probably benign Het
Polb A G 8: 23,138,277 (GRCm39) probably benign Het
Pou5f2 G A 13: 78,173,178 (GRCm39) R40Q probably benign Het
Sctr T C 1: 119,972,393 (GRCm39) M193T possibly damaging Het
Sctr T A 1: 119,949,909 (GRCm39) C33S probably damaging Het
Sema5b T C 16: 35,480,885 (GRCm39) S819P probably benign Het
Setd1b C T 5: 123,286,652 (GRCm39) T566I unknown Het
Sptbn4 G A 7: 27,126,258 (GRCm39) R222C possibly damaging Het
Taf5l A G 8: 124,730,197 (GRCm39) V129A possibly damaging Het
Tmem163 C T 1: 127,427,984 (GRCm39) V201I probably benign Het
Ube3b T C 5: 114,544,310 (GRCm39) L569P probably damaging Het
Vwa3a A G 7: 120,372,515 (GRCm39) E301G probably benign Het
Wnk1 T C 6: 119,914,823 (GRCm39) I1660V probably benign Het
Zbtb22 T A 17: 34,135,987 (GRCm39) L44Q probably damaging Het
Zfp691 T C 4: 119,027,389 (GRCm39) D281G probably damaging Het
Zfy2 C T Y: 2,106,894 (GRCm39) G580D probably benign Het
Zfy2 T A Y: 2,117,188 (GRCm39) H213L probably benign Het
Other mutations in Polg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Polg2 APN 11 106,668,258 (GRCm39) splice site probably null
IGL02205:Polg2 APN 11 106,669,946 (GRCm39) missense probably benign 0.09
IGL02952:Polg2 APN 11 106,663,539 (GRCm39) missense possibly damaging 0.78
IGL03328:Polg2 APN 11 106,659,163 (GRCm39) missense probably benign 0.40
IGL02835:Polg2 UTSW 11 106,666,266 (GRCm39) missense probably benign
R0109:Polg2 UTSW 11 106,667,958 (GRCm39) splice site probably benign
R0143:Polg2 UTSW 11 106,668,352 (GRCm39) missense probably benign 0.01
R0709:Polg2 UTSW 11 106,659,239 (GRCm39) missense probably damaging 1.00
R1385:Polg2 UTSW 11 106,659,149 (GRCm39) missense probably damaging 0.97
R1938:Polg2 UTSW 11 106,669,787 (GRCm39) missense probably damaging 0.98
R2872:Polg2 UTSW 11 106,666,251 (GRCm39) critical splice donor site probably null
R2872:Polg2 UTSW 11 106,666,251 (GRCm39) critical splice donor site probably null
R3159:Polg2 UTSW 11 106,659,163 (GRCm39) missense probably benign 0.40
R3776:Polg2 UTSW 11 106,670,110 (GRCm39) missense probably benign 0.01
R3982:Polg2 UTSW 11 106,670,028 (GRCm39) nonsense probably null
R5306:Polg2 UTSW 11 106,669,796 (GRCm39) missense probably damaging 0.98
R5338:Polg2 UTSW 11 106,670,064 (GRCm39) missense possibly damaging 0.95
R7055:Polg2 UTSW 11 106,668,040 (GRCm39) missense probably damaging 1.00
R7146:Polg2 UTSW 11 106,663,572 (GRCm39) missense probably benign 0.01
R7464:Polg2 UTSW 11 106,664,540 (GRCm39) missense probably benign 0.08
R7645:Polg2 UTSW 11 106,666,419 (GRCm39) missense probably benign
R8811:Polg2 UTSW 11 106,670,208 (GRCm39) missense probably benign 0.30
R8947:Polg2 UTSW 11 106,659,170 (GRCm39) missense probably damaging 0.97
Z1176:Polg2 UTSW 11 106,664,255 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18