Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Polg2'

62671

Institutional Source

Beutler Lab

Gene Symbol

Polg2

Ensembl Gene

ENSMUSG00000020718

Gene Name

polymerase (DNA directed), gamma 2, accessory subunit

Synonyms

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0709 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

106659079-106670363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106659239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 425 (G425R)

Ref Sequence

ENSEMBL: ENSMUSP00000021060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021060] [ENSMUST00000086353] [ENSMUST00000106794] [ENSMUST00000127061] [ENSMUST00000134029] [ENSMUST00000147326] [ENSMUST00000182023] [ENSMUST00000155107] [ENSMUST00000182896] [ENSMUST00000182908] [ENSMUST00000183111] [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: G425R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021060
Gene: ENSMUSG00000020718
AA Change: G425R

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: 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: 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: 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

Meta Mutation Damage Score

0.9103

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,436,358 (GRCm39)	D137V	probably damaging	Het
Aar2	C	T	2: 156,408,930 (GRCm39)	P378L	probably damaging	Het
Abcc5	A	T	16: 20,195,342 (GRCm39)	H718Q	possibly damaging	Het
Ace	G	T	11: 105,872,364 (GRCm39)	L319F	probably damaging	Het
Angpt4	C	A	2: 151,776,434 (GRCm39)	P321T	possibly damaging	Het
Atrip	T	C	9: 108,896,171 (GRCm39)	N282S	probably benign	Het
AW554918	A	C	18: 25,596,711 (GRCm39)	S525R	probably damaging	Het
Ccdc136	T	A	6: 29,414,969 (GRCm39)	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,200,719 (GRCm39)	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,863,127 (GRCm39)	H223R	probably benign	Het
Cd109	T	C	9: 78,579,260 (GRCm39)	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,790,616 (GRCm39)		probably benign	Het
Copb2	A	T	9: 98,445,220 (GRCm39)		probably benign	Het
Csrnp3	C	T	2: 65,852,907 (GRCm39)	S445L	probably damaging	Het
Cxcl13	G	T	5: 96,106,530 (GRCm39)	C34F	probably damaging	Het
Dars2	T	C	1: 160,874,498 (GRCm39)	E397G	probably benign	Het
Dlg5	C	T	14: 24,196,323 (GRCm39)	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,606,222 (GRCm39)		probably benign	Het
Eif4a1	C	A	11: 69,561,078 (GRCm39)	A76S	probably damaging	Het
Fam162b	T	A	10: 51,463,347 (GRCm39)	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,167,057 (GRCm39)	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359 (GRCm39)	F152L	probably damaging	Het
Galnt2	G	A	8: 125,070,085 (GRCm39)	G534D	probably benign	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Golm2	T	A	2: 121,697,906 (GRCm39)	V74E	probably damaging	Het
Gprc5a	T	A	6: 135,055,948 (GRCm39)	S132T	probably damaging	Het
Hk3	G	A	13: 55,162,543 (GRCm39)	R47C	probably damaging	Het
Hrnr	A	T	3: 93,239,815 (GRCm39)	Q3351L	unknown	Het
Icam1	T	A	9: 20,930,423 (GRCm39)	F92L	probably damaging	Het
Ifi213	C	T	1: 173,417,366 (GRCm39)	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,275,888 (GRCm39)		probably benign	Het
Irx3	A	G	8: 92,526,048 (GRCm39)	V487A	possibly damaging	Het
Kalrn	A	G	16: 33,855,924 (GRCm39)	V204A	probably damaging	Het
Krt16	T	C	11: 100,137,280 (GRCm39)		probably benign	Het
Loxhd1	G	A	18: 77,492,665 (GRCm39)	V1369I	probably benign	Het
Med13	T	A	11: 86,210,422 (GRCm39)	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,234,962 (GRCm39)	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,877,732 (GRCm39)	D461V	unknown	Het
Nek6	T	A	2: 38,447,858 (GRCm39)	S41T	probably damaging	Het
Nudt22	T	C	19: 6,970,874 (GRCm39)	E232G	probably damaging	Het
Numbl	C	A	7: 26,973,415 (GRCm39)	F192L	probably damaging	Het
Or4c105	C	T	2: 88,648,226 (GRCm39)	T237I	probably benign	Het
Or7g12	T	A	9: 18,899,422 (GRCm39)	I46K	probably damaging	Het
P2rx4	T	C	5: 122,852,467 (GRCm39)	V47A	probably damaging	Het
Phka1	T	A	X: 101,629,710 (GRCm39)	I478F	probably damaging	Het
Pkn2	G	A	3: 142,536,281 (GRCm39)	T200I	probably damaging	Het
Plcg1	T	A	2: 160,593,698 (GRCm39)		probably null	Het
Ptprm	G	T	17: 67,251,327 (GRCm39)		probably null	Het
Reg1	G	A	6: 78,405,101 (GRCm39)	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,084,367 (GRCm39)	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,265,603 (GRCm39)	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,836,985 (GRCm39)	V28M	possibly damaging	Het
Snap29	A	G	16: 17,224,012 (GRCm39)	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,469 (GRCm39)		probably benign	Het
Sorcs3	G	A	19: 48,475,845 (GRCm39)	A235T	probably benign	Het
Sp100	T	A	1: 85,622,002 (GRCm39)	N362K	probably damaging	Het
Sqor	A	T	2: 122,641,775 (GRCm39)	I32F	probably benign	Het
Stx6	C	T	1: 155,069,040 (GRCm39)	R189C	probably damaging	Het
Tchp	T	C	5: 114,855,514 (GRCm39)	I298T	probably damaging	Het
Themis	A	G	10: 28,637,570 (GRCm39)	I225V	probably benign	Het
Timm50	A	T	7: 28,006,366 (GRCm39)	V245E	probably damaging	Het
Tnxb	A	G	17: 34,908,328 (GRCm39)	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,398,814 (GRCm39)	R205H	probably benign	Het
Tradd	T	C	8: 105,987,276 (GRCm39)	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,464,199 (GRCm39)	E37K	probably benign	Het
Ttn	T	C	2: 76,729,747 (GRCm39)		probably benign	Het
Ttr	A	T	18: 20,803,034 (GRCm39)		probably null	Het
Ubp1	A	G	9: 113,773,999 (GRCm39)	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,897,881 (GRCm39)	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,263,166 (GRCm39)	N98K	probably damaging	Het
Yipf5	A	G	18: 40,340,825 (GRCm39)	S176P	probably benign	Het
Zpbp2	C	T	11: 98,444,763 (GRCm39)	T97I	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
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'- caaaccactacaGACCATATCAAAAGGACAA -3'
(R):5'- acactcatgtgcgtaaagtgaaaatCAGTAA -3'

Sequencing Primer
(F):5'- ATTGCTAGCTGACGCTAGGT -3'
(R):5'- ATTCGGCCCTTCGTAAAGGAC -3'

Posted On

2013-07-30