Mutagenetix > Incidental Mutation

Incidental Mutation 'R2067:Pole2'

226785

Institutional Source

Beutler Lab

Gene Symbol

Pole2

Ensembl Gene

ENSMUSG00000020974

Gene Name

polymerase (DNA directed), epsilon 2 (p59 subunit)

Synonyms

DNA polymerase epsilon small subunit

MMRRC Submission

040072-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2067 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

69248547-69274969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69274926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 5 (R5W)

Ref Sequence

ENSEMBL: ENSMUSP00000152262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021359] [ENSMUST00000221411]

AlphaFold

O54956

Predicted Effect

probably benign
Transcript: ENSMUST00000021359
AA Change: R5W

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974
AA Change: R5W

Domain	Start	End	E-Value	Type
Pfam:Dpoe2NT	2	74	1.9e-32	PFAM
Pfam:DNA_pol_E_B	287	489	1.4e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220745

Predicted Effect

probably benign
Transcript: ENSMUST00000221411
AA Change: R5W

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.1027

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Abca2	A	T	2: 25,327,517 (GRCm39)	I669F	possibly damaging	Het
Acin1	T	A	14: 54,902,711 (GRCm39)	Q360H	probably damaging	Het
Aldh3b1	T	A	19: 3,971,755 (GRCm39)	D72V	probably benign	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Alpl	T	C	4: 137,476,856 (GRCm39)		probably benign	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Bod1l	G	A	5: 41,974,429 (GRCm39)	T2295M	probably benign	Het
Ccdc9	A	T	7: 16,012,475 (GRCm39)		probably null	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Csmd1	A	G	8: 15,950,782 (GRCm39)	S3476P	probably benign	Het
Ddias	A	T	7: 92,508,907 (GRCm39)	M336K	possibly damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Espl1	T	C	15: 102,207,525 (GRCm39)	S330P	probably damaging	Het
Fbln7	G	T	2: 128,719,386 (GRCm39)	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Gc	T	A	5: 89,594,376 (GRCm39)	K37N	probably damaging	Het
Gfpt1	T	C	6: 87,034,736 (GRCm39)	I178T	probably benign	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm3944	C	A	12: 18,903,895 (GRCm39)	S8*	probably null	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gpr156	A	G	16: 37,799,113 (GRCm39)	D109G	probably benign	Het
Hoxd1	A	T	2: 74,593,710 (GRCm39)	T89S	probably benign	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Krt4	C	A	15: 101,833,099 (GRCm39)	A3S	possibly damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Mup4	T	A	4: 59,960,622 (GRCm39)		probably benign	Het
Myh1	G	A	11: 67,105,446 (GRCm39)	D1079N	possibly damaging	Het
Myo1a	A	G	10: 127,541,347 (GRCm39)	N43D	probably benign	Het
Napa	A	T	7: 15,849,203 (GRCm39)		probably benign	Het
Ndufa12	A	G	10: 94,056,569 (GRCm39)	D99G	probably damaging	Het
Neb	A	G	2: 52,174,275 (GRCm39)	I1528T	probably benign	Het
Nek1	T	C	8: 61,460,196 (GRCm39)	S41P	probably damaging	Het
Nolc1	C	T	19: 46,072,046 (GRCm39)	T612M	probably damaging	Het
Nsun5	T	G	5: 135,403,926 (GRCm39)	Y301D	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or1e1f	A	G	11: 73,855,740 (GRCm39)	Y102C	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or6ae1	T	A	7: 139,742,822 (GRCm39)	I14F	possibly damaging	Het
Or8b46	T	A	9: 38,450,576 (GRCm39)	N128K	probably benign	Het
Or8k38	G	T	2: 86,488,781 (GRCm39)	T7K	probably damaging	Het
Osmr	T	C	15: 6,844,896 (GRCm39)	N957D	probably benign	Het
Parn	G	A	16: 13,420,933 (GRCm39)	S473L	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pik3c2b	T	C	1: 133,027,349 (GRCm39)	S1283P	probably damaging	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Ptprz1	A	G	6: 23,050,388 (GRCm39)		probably benign	Het
Rapgef3	C	A	15: 97,664,842 (GRCm39)	G7V	probably damaging	Het
Ripor1	T	A	8: 106,344,340 (GRCm39)	S491R	probably benign	Het
Rnf141	A	G	7: 110,420,572 (GRCm39)		probably benign	Het
Ryr3	C	T	2: 112,777,302 (GRCm39)	R285Q	probably damaging	Het
Sall4	T	C	2: 168,598,465 (GRCm39)	N125S	probably benign	Het
Schip1	A	G	3: 68,525,119 (GRCm39)	K360R	probably damaging	Het
Senp6	T	A	9: 79,997,151 (GRCm39)	V55E	probably benign	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc25a16	T	A	10: 62,768,530 (GRCm39)	H130Q	probably benign	Het
Styx	T	C	14: 45,611,020 (GRCm39)	V217A	probably benign	Het
Syne2	G	A	12: 75,935,116 (GRCm39)		probably null	Het
Tagap1	A	G	17: 7,224,259 (GRCm39)	S146P	probably benign	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Tle2	T	C	10: 81,416,385 (GRCm39)	L135P	probably damaging	Het
Tmc1	A	G	19: 20,801,673 (GRCm39)	F451S	possibly damaging	Het
Trpm7	G	A	2: 126,639,647 (GRCm39)	P1650S	probably damaging	Het
Ttll4	G	A	1: 74,719,541 (GRCm39)	R16H	possibly damaging	Het
Ttn	T	C	2: 76,544,717 (GRCm39)	N32795S	probably damaging	Het
Tubgcp6	T	C	15: 88,988,692 (GRCm39)	E803G	probably benign	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Ugt2b35	A	G	5: 87,149,412 (GRCm39)	D221G	probably damaging	Het
Unc45b	G	A	11: 82,802,515 (GRCm39)	A4T	probably benign	Het
Vmn1r70	A	T	7: 10,368,264 (GRCm39)	I251F	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Zfp59	A	G	7: 27,552,935 (GRCm39)	N129S	probably benign	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably damaging	Het

Other mutations in Pole2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Pole2	APN	12	69,273,219 (GRCm39)	splice site	probably benign
IGL00940:Pole2	APN	12	69,262,134 (GRCm39)	missense	probably damaging	1.00
IGL01593:Pole2	APN	12	69,269,873 (GRCm39)	splice site	probably null
IGL01609:Pole2	APN	12	69,254,631 (GRCm39)	critical splice donor site	probably null
IGL01717:Pole2	APN	12	69,260,623 (GRCm39)	missense	probably damaging	1.00
IGL02168:Pole2	APN	12	69,248,660 (GRCm39)	unclassified	probably benign
IGL02208:Pole2	APN	12	69,269,936 (GRCm39)	missense	possibly damaging	0.91
IGL02966:Pole2	APN	12	69,256,649 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Pole2	UTSW	12	69,256,759 (GRCm39)	nonsense	probably null
R0069:Pole2	UTSW	12	69,256,661 (GRCm39)	missense	probably damaging	1.00
R0069:Pole2	UTSW	12	69,256,661 (GRCm39)	missense	probably damaging	1.00
R0396:Pole2	UTSW	12	69,269,160 (GRCm39)	splice site	probably benign
R0574:Pole2	UTSW	12	69,258,231 (GRCm39)	splice site	probably benign
R0620:Pole2	UTSW	12	69,256,653 (GRCm39)	missense	probably damaging	1.00
R0685:Pole2	UTSW	12	69,258,187 (GRCm39)	missense	probably damaging	0.98
R0791:Pole2	UTSW	12	69,254,703 (GRCm39)	missense	probably benign	0.06
R1452:Pole2	UTSW	12	69,254,703 (GRCm39)	missense	probably benign	0.06
R1453:Pole2	UTSW	12	69,254,703 (GRCm39)	missense	probably benign	0.06
R1455:Pole2	UTSW	12	69,254,703 (GRCm39)	missense	probably benign	0.06
R1912:Pole2	UTSW	12	69,256,764 (GRCm39)	missense	probably damaging	0.99
R2929:Pole2	UTSW	12	69,256,712 (GRCm39)	missense	probably benign	0.13
R3016:Pole2	UTSW	12	69,268,836 (GRCm39)	missense	probably benign	0.14
R4504:Pole2	UTSW	12	69,269,242 (GRCm39)	missense	probably benign	0.00
R4765:Pole2	UTSW	12	69,268,826 (GRCm39)	missense	possibly damaging	0.49
R4790:Pole2	UTSW	12	69,273,139 (GRCm39)	missense	probably benign	0.00
R4896:Pole2	UTSW	12	69,269,924 (GRCm39)	missense	probably damaging	0.97
R6998:Pole2	UTSW	12	69,260,680 (GRCm39)	missense	possibly damaging	0.82
R7257:Pole2	UTSW	12	69,249,684 (GRCm39)	missense	probably damaging	1.00
R7535:Pole2	UTSW	12	69,269,203 (GRCm39)	missense	probably benign	0.10
R7841:Pole2	UTSW	12	69,251,032 (GRCm39)	missense	probably damaging	1.00
R8437:Pole2	UTSW	12	69,250,961 (GRCm39)	nonsense	probably null
R8506:Pole2	UTSW	12	69,255,734 (GRCm39)	missense	probably benign
R9467:Pole2	UTSW	12	69,255,719 (GRCm39)	missense	probably benign	0.40
R9494:Pole2	UTSW	12	69,249,731 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- AGCCTGGAAGTAACATTCGCAC -3'
(R):5'- AAGCTTGTTCCCACTCTGAC -3'

Sequencing Primer
(F):5'- GTAACATTCGCACCCGGC -3'
(R):5'- GACCACTCCTACTTCACTCCCTAG -3'

Posted On

2014-09-17