Mutagenetix > Incidental Mutation

Incidental Mutation 'R3159:Polg2'

258070

Institutional Source

Beutler Lab

Gene Symbol

Polg2

Ensembl Gene

ENSMUSG00000020718

Gene Name

polymerase (DNA directed), gamma 2, accessory subunit

Synonyms

MMRRC Submission

040610-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3159 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106659079-106670363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 106659163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 450 (V450G)

Ref Sequence

ENSEMBL: ENSMUSP00000021060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021060] [ENSMUST00000086353] [ENSMUST00000106794] [ENSMUST00000127061] [ENSMUST00000134029] [ENSMUST00000147326] [ENSMUST00000182023] [ENSMUST00000183111] [ENSMUST00000182479] [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 benign
Transcript: ENSMUST00000021060
AA Change: V450G

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021060
Gene: ENSMUSG00000020718
AA Change: V450G

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: 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: 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: 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

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: 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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bltp1	T	C	3: 37,013,564 (GRCm39)	V1931A	probably benign	Het
Ccdc146	T	C	5: 21,604,790 (GRCm39)	E16G	unknown	Het
Ccr4	G	T	9: 114,321,350 (GRCm39)	N238K	probably benign	Het
Cdk15	T	C	1: 59,340,440 (GRCm39)	I313T	probably damaging	Het
Celsr3	T	C	9: 108,704,909 (GRCm39)	V464A	possibly damaging	Het
Cfap54	T	C	10: 92,834,918 (GRCm39)	I1096V	probably benign	Het
Dmpk	A	G	7: 18,826,944 (GRCm39)	T579A	probably benign	Het
Dscam	T	C	16: 96,479,710 (GRCm39)	T1146A	probably benign	Het
Galnt12	A	G	4: 47,104,264 (GRCm39)	D174G	probably damaging	Het
Gm5145	A	G	17: 20,791,155 (GRCm39)	I178V	probably benign	Het
Gxylt1	A	G	15: 93,142,913 (GRCm39)	I384T	probably benign	Het
Hmgcr	C	T	13: 96,802,355 (GRCm39)	V110I	probably damaging	Het
Hsd17b2	A	C	8: 118,485,491 (GRCm39)	D318A	probably damaging	Het
Ighv8-6	A	G	12: 115,129,508 (GRCm39)	S83P	probably damaging	Het
Isg20	C	A	7: 78,564,201 (GRCm39)	A36E	possibly damaging	Het
Jade3	A	G	X: 20,345,783 (GRCm39)	K54E	probably damaging	Het
Mark1	A	T	1: 184,640,584 (GRCm39)	Y505N	probably damaging	Het
Mmp11	C	T	10: 75,762,948 (GRCm39)		probably benign	Het
Myo1g	G	T	11: 6,464,527 (GRCm39)	T511K	possibly damaging	Het
Ociad1	A	T	5: 73,467,688 (GRCm39)	R155*	probably null	Het
Or5t7	A	G	2: 86,506,855 (GRCm39)	I274T	probably benign	Het
Pcdha2	C	T	18: 37,074,250 (GRCm39)	T627I	probably damaging	Het
Rbm48	A	T	5: 3,646,105 (GRCm39)	V33D	possibly damaging	Het
Rfx6	A	T	10: 51,602,816 (GRCm39)	R778W	probably damaging	Het
Sav1	A	T	12: 70,031,326 (GRCm39)	D65E	probably benign	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Shank2	C	A	7: 143,635,611 (GRCm39)	N328K	probably damaging	Het
Slc8a3	C	A	12: 81,361,766 (GRCm39)	R351L	probably damaging	Het
Slc9b1	G	A	3: 135,077,606 (GRCm39)	G100E	probably damaging	Het
Slit1	A	G	19: 41,592,812 (GRCm39)	Y1214H	probably benign	Het
Smu1	T	A	4: 40,754,529 (GRCm39)	R123S	possibly damaging	Het
Tgfb3	A	T	12: 86,105,760 (GRCm39)	W332R	probably damaging	Het
Tmem132a	C	T	19: 10,836,901 (GRCm39)	W680*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trav4-4-dv10	A	T	14: 53,921,559 (GRCm39)	K86*	probably null	Het
Zfp667	T	C	7: 6,308,999 (GRCm39)	C556R	probably damaging	Het
Zranb3	A	G	1: 127,900,686 (GRCm39)	I713T	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
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
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'- TGACACACGTACTCCAAGGC -3'
(R):5'- CATGAGATGAGGAGCTGATGTCTG -3'

Sequencing Primer
(F):5'- TGAAACTCCGTGGGGCCATATTC -3'
(R):5'- AGGAGCTGATGTCTGCCCAG -3'

Posted On

2015-01-23