Incidental Mutation 'R1385:Polg2'
| ID |
163229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polg2
|
| Ensembl Gene |
ENSMUSG00000020718 |
| Gene Name |
polymerase (DNA directed), gamma 2, accessory subunit |
| Synonyms |
|
| MMRRC Submission |
039447-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1385 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106659079-106670363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106659149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 455
(S455P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021060]
[ENSMUST00000086353]
[ENSMUST00000106794]
[ENSMUST00000127061]
[ENSMUST00000134029]
[ENSMUST00000147326]
[ENSMUST00000182908]
[ENSMUST00000183111]
[ENSMUST00000155107]
[ENSMUST00000182896]
[ENSMUST00000182023]
[ENSMUST00000182479]
|
| 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: S455P
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021060
Gene: ENSMUSG00000020718
AA Change: S455P
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000147326
|
| SMART Domains |
Protein: ENSMUSP00000138742
Gene: ENSMUSG00000040528
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157775
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182908
|
| SMART Domains |
Protein: ENSMUSP00000138678
Gene: ENSMUSG00000040528
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183111
|
| SMART Domains |
Protein: ENSMUSP00000138513
Gene: ENSMUSG00000040528
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000182896
|
| SMART Domains |
Protein: ENSMUSP00000138617
Gene: ENSMUSG00000040528
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182023
|
| SMART Domains |
Protein: ENSMUSP00000138286
Gene: ENSMUSG00000040528
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182479
|
| SMART Domains |
Protein: ENSMUSP00000138386
Gene: ENSMUSG00000040528
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
1 |
36 |
3e-19 |
BLAST |
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
G |
18: 56,675,357 (GRCm39) |
S269P |
probably damaging |
Het |
| Arf3 |
A |
G |
15: 98,640,494 (GRCm39) |
V43A |
probably damaging |
Het |
| Arhgap1 |
C |
A |
2: 91,501,176 (GRCm39) |
N457K |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,626,503 (GRCm39) |
N399S |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,875,561 (GRCm39) |
E544K |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,291,138 (GRCm39) |
E1546G |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,838,861 (GRCm39) |
I900V |
probably benign |
Het |
| Edem1 |
A |
G |
6: 108,823,645 (GRCm39) |
N347S |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,544,251 (GRCm39) |
I112T |
probably benign |
Het |
| Gemin2 |
A |
G |
12: 59,064,932 (GRCm39) |
|
probably null |
Het |
| Hunk |
T |
A |
16: 90,269,374 (GRCm39) |
V306E |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,249,836 (GRCm39) |
I2260V |
probably benign |
Het |
| Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
| Itgbl1 |
A |
G |
14: 123,898,923 (GRCm39) |
|
probably null |
Het |
| Iws1 |
T |
A |
18: 32,223,483 (GRCm39) |
N630K |
probably benign |
Het |
| Lama2 |
C |
A |
10: 27,100,039 (GRCm39) |
R822L |
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,785,438 (GRCm39) |
D130G |
probably damaging |
Het |
| Mageb11 |
T |
A |
X: 89,935,874 (GRCm39) |
C43S |
probably benign |
Het |
| Malrd1 |
A |
T |
2: 16,047,039 (GRCm39) |
I1722F |
unknown |
Het |
| Mark4 |
G |
T |
7: 19,159,952 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,415,874 (GRCm39) |
V2940A |
probably benign |
Het |
| Mxd1 |
T |
A |
6: 86,628,549 (GRCm39) |
Q62L |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
| Nr2c2 |
T |
G |
6: 92,131,451 (GRCm39) |
F171C |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,102,356 (GRCm39) |
Q675L |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ocstamp |
T |
C |
2: 165,237,959 (GRCm39) |
D435G |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,411,108 (GRCm39) |
T553A |
probably benign |
Het |
| Pllp |
A |
G |
8: 95,405,996 (GRCm39) |
Y96H |
probably benign |
Het |
| Ppp1r9b |
A |
G |
11: 94,883,037 (GRCm39) |
T222A |
probably benign |
Het |
| Prkcd |
G |
A |
14: 30,329,362 (GRCm39) |
T26I |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,261,097 (GRCm39) |
H383R |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,102,312 (GRCm39) |
I2490M |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Scn9a |
G |
A |
2: 66,393,886 (GRCm39) |
P229L |
probably damaging |
Het |
| Serpinb5 |
A |
G |
1: 106,803,853 (GRCm39) |
T180A |
probably damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sphk2 |
A |
G |
7: 45,361,715 (GRCm39) |
I82T |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Treml1 |
T |
G |
17: 48,667,226 (GRCm39) |
V37G |
probably damaging |
Het |
| Trim33 |
A |
G |
3: 103,218,266 (GRCm39) |
K272E |
possibly damaging |
Het |
| Trpv6 |
T |
C |
6: 41,598,063 (GRCm39) |
D748G |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,129,923 (GRCm39) |
H681R |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,325 (GRCm39) |
R775* |
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,211,863 (GRCm39) |
L8S |
probably damaging |
Het |
| Zfand4 |
G |
A |
6: 116,250,599 (GRCm39) |
G10R |
probably damaging |
Het |
| Zfp119a |
T |
A |
17: 56,172,826 (GRCm39) |
H339L |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
|
| Other mutations in Polg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL02850:Polg2
|
APN |
11 |
106,659,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- tcaaaccactacaGACCATATCAAAAGGACAA -3'
(R):5'- acactcatgtgcgtaaagtgaaaatCAGTAA -3'
Sequencing Primer
(F):5'- GTAAGCGAATGAACTCAACAGAG -3'
(R):5'- ATTCGGCCCTTCGTAAAGGAC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation