Incidental Mutation 'R5306:Polg2'
| ID |
404582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polg2
|
| Ensembl Gene |
ENSMUSG00000020718 |
| Gene Name |
polymerase (DNA directed), gamma 2, accessory subunit |
| Synonyms |
|
| MMRRC Submission |
042889-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5306 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106659079-106670363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106669796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 158
(T158I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021060]
[ENSMUST00000021062]
[ENSMUST00000126201]
[ENSMUST00000127061]
[ENSMUST00000127481]
[ENSMUST00000155107]
[ENSMUST00000133426]
[ENSMUST00000134029]
|
| AlphaFold |
Q9QZM2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021060
AA Change: T158I
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021060
Gene: ENSMUSG00000020718
AA Change: T158I
| 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: ENSMUST00000021062
|
| SMART Domains |
Protein: ENSMUSP00000021062
Gene: ENSMUSG00000020719
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| SMART Domains |
Protein: ENSMUSP00000116583
Gene: ENSMUSG00000020718
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000127061
AA Change: T158I
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117441
Gene: ENSMUSG00000020718
AA Change: T158I
| 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: ENSMUST00000127481
|
| SMART Domains |
Protein: ENSMUSP00000138184
Gene: ENSMUSG00000020719
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000175392
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175532
|
| 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: ENSMUST00000133426
|
| SMART Domains |
Protein: ENSMUSP00000138237
Gene: ENSMUSG00000020719
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (64/66) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
A |
8: 56,324,792 (GRCm39) |
D554V |
probably damaging |
Het |
| Ankrd44 |
G |
A |
1: 54,965,362 (GRCm39) |
|
probably benign |
Het |
| Api5 |
A |
T |
2: 94,253,811 (GRCm39) |
C297* |
probably null |
Het |
| Asb14 |
G |
A |
14: 26,633,866 (GRCm39) |
C357Y |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,707,230 (GRCm39) |
|
probably benign |
Het |
| Brdt |
T |
A |
5: 107,493,010 (GRCm39) |
D112E |
probably damaging |
Het |
| Capsl |
C |
A |
15: 9,457,876 (GRCm39) |
Q32K |
probably benign |
Het |
| Ccdc106 |
A |
G |
7: 5,061,096 (GRCm39) |
D81G |
probably damaging |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,502,910 (GRCm39) |
R265G |
probably benign |
Het |
| Cep104 |
C |
A |
4: 154,090,699 (GRCm39) |
T884K |
probably benign |
Het |
| Cmbl |
T |
C |
15: 31,582,215 (GRCm39) |
Y71H |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,380,356 (GRCm39) |
|
probably benign |
Het |
| Dynlt1c |
T |
C |
17: 6,869,210 (GRCm39) |
M1T |
probably null |
Het |
| Erbb2 |
T |
C |
11: 98,319,032 (GRCm39) |
S574P |
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,646,849 (GRCm39) |
V153A |
probably benign |
Het |
| Faxc |
G |
T |
4: 21,931,557 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,791,243 (GRCm39) |
T835A |
probably damaging |
Het |
| Fmo5 |
G |
T |
3: 97,549,076 (GRCm39) |
M241I |
probably benign |
Het |
| Gabra1 |
A |
C |
11: 42,024,379 (GRCm39) |
I432S |
probably benign |
Het |
| Gfap |
A |
G |
11: 102,786,574 (GRCm39) |
|
probably null |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm12185 |
T |
A |
11: 48,806,382 (GRCm39) |
M270L |
probably benign |
Het |
| Gm14443 |
T |
C |
2: 175,011,372 (GRCm39) |
N358S |
possibly damaging |
Het |
| Gpr3 |
C |
T |
4: 132,938,490 (GRCm39) |
V61M |
probably damaging |
Het |
| Herc2 |
C |
T |
7: 55,834,709 (GRCm39) |
T3229M |
probably damaging |
Het |
| Ifit3 |
A |
G |
19: 34,565,207 (GRCm39) |
Y251C |
probably damaging |
Het |
| Inf2 |
G |
A |
12: 112,567,987 (GRCm39) |
V180I |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,959,665 (GRCm39) |
Y91H |
probably damaging |
Het |
| Ints4 |
A |
C |
7: 97,158,885 (GRCm39) |
D419A |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,704,331 (GRCm39) |
S1175P |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,315,730 (GRCm39) |
V44E |
probably damaging |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,940 (GRCm39) |
|
noncoding transcript |
Het |
| Myh2 |
T |
C |
11: 67,077,382 (GRCm39) |
L839P |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Or4l1 |
A |
G |
14: 50,167,007 (GRCm39) |
|
probably benign |
Het |
| Or6c70 |
A |
C |
10: 129,709,810 (GRCm39) |
I272R |
probably damaging |
Het |
| Pced1a |
T |
A |
2: 130,261,091 (GRCm39) |
H422L |
probably benign |
Het |
| Plpp1 |
G |
T |
13: 112,988,089 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
T |
C |
6: 32,183,056 (GRCm39) |
Y949C |
probably damaging |
Het |
| Prss38 |
A |
T |
11: 59,263,821 (GRCm39) |
I297K |
probably benign |
Het |
| Psph |
A |
G |
5: 129,846,431 (GRCm39) |
L98P |
probably damaging |
Het |
| Rab11b |
G |
A |
17: 33,979,243 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
CGGCGGC |
CGGCGGCGGGGGCGGC |
7: 97,229,136 (GRCm39) |
|
probably benign |
Het |
| Serpine3 |
G |
A |
14: 62,908,382 (GRCm39) |
A137T |
probably damaging |
Het |
| Sh3bp4 |
T |
C |
1: 89,071,997 (GRCm39) |
F282L |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
| Slco2b1 |
T |
A |
7: 99,338,198 (GRCm39) |
Y109F |
possibly damaging |
Het |
| Slfn10-ps |
T |
A |
11: 82,926,355 (GRCm39) |
|
noncoding transcript |
Het |
| Smc5 |
A |
G |
19: 23,237,009 (GRCm39) |
|
probably null |
Het |
| Smyd4 |
A |
G |
11: 75,292,984 (GRCm39) |
N638S |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,675,735 (GRCm39) |
E628G |
probably damaging |
Het |
| Tmem236 |
A |
T |
2: 14,223,975 (GRCm39) |
K255* |
probably null |
Het |
| Ttc29 |
T |
A |
8: 78,978,539 (GRCm39) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,087,222 (GRCm39) |
I430T |
probably damaging |
Het |
| Uckl1 |
A |
G |
2: 181,216,160 (GRCm39) |
|
probably null |
Het |
| Vmn2r52 |
A |
C |
7: 9,904,672 (GRCm39) |
I389R |
possibly damaging |
Het |
| Wdr62 |
A |
T |
7: 29,964,688 (GRCm39) |
F352Y |
possibly damaging |
Het |
| Wdr70 |
T |
C |
15: 7,953,754 (GRCm39) |
D379G |
probably benign |
Het |
| Zfp408 |
T |
A |
2: 91,476,690 (GRCm39) |
M155L |
probably benign |
Het |
| Zfp459 |
T |
A |
13: 67,561,249 (GRCm39) |
Q66H |
probably damaging |
Het |
| Zfp870 |
C |
A |
17: 33,102,627 (GRCm39) |
G234V |
probably damaging |
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 |
|
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 |
|
|
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'- TTTGCCTCAAGGTGGATCACTC -3'
(R):5'- TCACAGTGGTGGTCCTCTATGG -3'
Sequencing Primer
(F):5'- CCTCAAGGTGGATCACTCTGATG -3'
(R):5'- TTCAGGGAGCAGGTCTTCGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation