Mutagenetix > Incidental Mutation

Incidental Mutation 'R0143:Polg2'

22458

Institutional Source

Beutler Lab

Gene Symbol

Polg2

Ensembl Gene

ENSMUSG00000020718

Gene Name

polymerase (DNA directed), gamma 2, accessory subunit

Synonyms

MMRRC Submission

038428-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0143 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

106659079-106670363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106668352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 174 (V174L)

Ref Sequence

ENSEMBL: ENSMUSP00000021060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021060] [ENSMUST00000021062] [ENSMUST00000126201] [ENSMUST00000127061] [ENSMUST00000127481] [ENSMUST00000133426] [ENSMUST00000155107] [ENSMUST00000134029]

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 benign
Transcript: ENSMUST00000021060
AA Change: V174L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000021060
Gene: ENSMUSG00000020718
AA Change: V174L

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

unknown
Transcript: ENSMUST00000126201
AA Change: W162C

SMART Domains

Protein: ENSMUSP00000116583
Gene: ENSMUSG00000020718
AA Change: W162C

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 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: 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

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

noncoding transcript
Transcript: ENSMUST00000142590

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: 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

0.1109

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (76/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,988,288 (GRCm39)	I145N	probably benign	Het
Ankrd1	G	A	19: 36,096,713 (GRCm39)	A38V	probably benign	Het
Ankrd34b	A	G	13: 92,576,268 (GRCm39)	E500G	probably damaging	Het
Arhgef12	T	C	9: 42,916,890 (GRCm39)	T419A	probably damaging	Het
B3galt2	A	T	1: 143,523,072 (GRCm39)	N403Y	possibly damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
C4b	G	A	17: 34,953,193 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,324,693 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,237,857 (GRCm39)	V17A	probably benign	Het
Cog7	A	T	7: 121,550,387 (GRCm39)	L379Q	probably damaging	Het
Cul9	T	C	17: 46,837,336 (GRCm39)	N1044S	possibly damaging	Het
Cyp4b1	C	T	4: 115,493,071 (GRCm39)	D258N	probably damaging	Het
Ddx39a	T	C	8: 84,447,179 (GRCm39)	V113A	probably benign	Het
Dennd4b	A	T	3: 90,179,671 (GRCm39)	H643L	probably damaging	Het
Dpy19l3	T	C	7: 35,413,640 (GRCm39)	T334A	probably benign	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Dtx4	G	A	19: 12,463,846 (GRCm39)	T312I	probably damaging	Het
Dusp18	C	T	11: 3,847,243 (GRCm39)	R78C	probably benign	Het
Fes	A	C	7: 80,033,643 (GRCm39)	F203V	probably benign	Het
Fhad1	C	A	4: 141,656,957 (GRCm39)		probably benign	Het
Gjb2	T	C	14: 57,337,526 (GRCm39)		silent	Het
Gm5828	T	C	1: 16,838,579 (GRCm39)		noncoding transcript	Het
Gsdma	A	C	11: 98,557,080 (GRCm39)	E65A	probably damaging	Het
Hck	T	A	2: 152,976,140 (GRCm39)		probably null	Het
Henmt1	A	T	3: 108,861,118 (GRCm39)	H47L	probably damaging	Het
Hivep2	T	C	10: 14,005,099 (GRCm39)	F566L	probably damaging	Het
Hnrnpl	T	C	7: 28,513,617 (GRCm39)		probably benign	Het
Igsf3	T	C	3: 101,342,917 (GRCm39)	I518T	probably damaging	Het
Ireb2	T	C	9: 54,793,193 (GRCm39)	F223L	probably benign	Het
Isoc2a	T	C	7: 4,894,331 (GRCm39)		probably null	Het
Krt73	T	A	15: 101,709,208 (GRCm39)	R200W	probably damaging	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrp1	A	G	10: 127,429,811 (GRCm39)	F420L	probably damaging	Het
Mep1b	T	C	18: 21,228,164 (GRCm39)		probably benign	Het
Mex3a	G	T	3: 88,443,562 (GRCm39)	A213S	probably benign	Het
Mmp13	T	C	9: 7,276,558 (GRCm39)	F218L	probably damaging	Het
Ncf1	G	T	5: 134,255,991 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,053,433 (GRCm39)	D2032G	probably damaging	Het
Or10h28	T	C	17: 33,488,471 (GRCm39)	S258P	probably damaging	Het
Or5p1	A	G	7: 107,916,202 (GRCm39)	I34V	probably benign	Het
Or9i1b	A	C	19: 13,896,614 (GRCm39)	I77L	probably damaging	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Pex5	A	T	6: 124,375,448 (GRCm39)	W525R	probably damaging	Het
Plcb4	T	A	2: 135,818,131 (GRCm39)	I799N	probably damaging	Het
Poldip3	G	A	15: 83,012,144 (GRCm39)	L372F	probably damaging	Het
Prrt4	C	G	6: 29,170,670 (GRCm39)	G594A	probably damaging	Het
Prss1	A	G	6: 41,440,522 (GRCm39)	D199G	probably damaging	Het
Rbms2	T	A	10: 127,973,823 (GRCm39)	Q207L	probably benign	Het
Retreg2	A	G	1: 75,123,074 (GRCm39)	D334G	possibly damaging	Het
Slc6a15	T	G	10: 103,253,929 (GRCm39)	C622G	probably benign	Het
Spdya	T	A	17: 71,865,635 (GRCm39)	D84E	probably damaging	Het
Stat3	A	T	11: 100,785,982 (GRCm39)	S432T	possibly damaging	Het
Tiam1	A	T	16: 89,695,088 (GRCm39)	V123E	probably benign	Het
Tnpo3	A	G	6: 29,565,651 (GRCm39)		probably benign	Het
Tnrc6c	A	C	11: 117,643,811 (GRCm39)	N1481H	probably damaging	Het
Top3b	T	C	16: 16,701,389 (GRCm39)	S234P	probably damaging	Het
Tor1aip2	A	T	1: 155,935,294 (GRCm39)	T10S	probably benign	Het
Tpsab1	T	A	17: 25,562,418 (GRCm39)	H303L	probably benign	Het
Traf3	T	A	12: 111,228,010 (GRCm39)	V407D	probably damaging	Het
Trim33	T	A	3: 103,259,417 (GRCm39)	D1035E	probably benign	Het
Ttc38	T	C	15: 85,737,920 (GRCm39)	V402A	possibly damaging	Het
Ube4b	C	T	4: 149,439,914 (GRCm39)	R646H	possibly damaging	Het
Usp8	C	A	2: 126,597,009 (GRCm39)		probably benign	Het
Zdbf2	A	T	1: 63,347,233 (GRCm39)	I1871F	probably benign	Het
Zfp345	T	A	2: 150,314,475 (GRCm39)	Q354L	probably benign	Het
Zfp462	C	A	4: 55,023,402 (GRCm39)		probably benign	Het
Zfp81	G	A	17: 33,554,095 (GRCm39)	H240Y	possibly damaging	Het
Zfp830	A	G	11: 82,655,994 (GRCm39)	D266G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GAAGCCGATGACGCAACCAGA -3'
(R):5'- ATTGATTAAACAGTCTCACCATGTCCCC -3'

Sequencing Primer
(F):5'- caaacaaacaaacaaacaaacaaaAC -3'
(R):5'- ctttgtagccctgactgtcc -3'

Posted On

2013-04-16