Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Polg2'

266689

Institutional Source

Beutler Lab

Gene Symbol

Polg2

Ensembl Gene

ENSMUSG00000020718

Gene Name

polymerase (DNA directed), gamma 2, accessory subunit

Synonyms

MMRRC Submission

040460-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106659079-106670363 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 106666251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021060] [ENSMUST00000021062] [ENSMUST00000126201] [ENSMUST00000127061] [ENSMUST00000134029] [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 null
Transcript: ENSMUST00000021060

SMART Domains

Protein: ENSMUSP00000021060
Gene: ENSMUSG00000020718

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

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 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: 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

Meta Mutation Damage Score

0.9590

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (72/73)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,201,530 (GRCm39)		probably benign	Het
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Akr1e1	G	A	13: 4,652,683 (GRCm39)		silent	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Knop1	T	C	7: 118,455,186 (GRCm39)		probably null	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Ndufs1	A	G	1: 63,203,882 (GRCm39)		probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Plxna3	T	A	X: 73,383,002 (GRCm39)		probably benign	Homo
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Prps1	C	T	X: 139,372,743 (GRCm39)		probably benign	Homo
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably damaging	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
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'- TATTCAATTCCATCTCCTGGGG -3'
(R):5'- TGCAGTTTGCTATGAGTCCCTC -3'

Sequencing Primer
(F):5'- GATGATCACGGTGGGTCAC -3'
(R):5'- GAGTCCCTCTAACTTCAGCAGCG -3'

Posted On

2015-02-18