Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4504001:Pole2'

556019

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4504001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69248547-69274969 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 69256759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 255 (Y255*)

Ref Sequence

ENSEMBL: ENSMUSP00000021359 (fasta)

Gene Model

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

AlphaFold

O54956

Predicted Effect

probably null
Transcript: ENSMUST00000021359
AA Change: Y255*

SMART Domains

Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974
AA Change: Y255*

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

probably null
Transcript: ENSMUST00000221411
AA Change: Y255*

Coding Region Coverage

1x: 92.8%
3x: 90.6%
10x: 84.7%
20x: 71.6%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,547,537 (GRCm39)	C970*	probably null	Het
Adgrv1	G	A	13: 81,707,471 (GRCm39)	P1312S	probably damaging	Het
Arid5a	T	C	1: 36,356,706 (GRCm39)	I116T	probably damaging	Het
Bank1	C	A	3: 135,806,180 (GRCm39)	D485Y	probably damaging	Het
Cbln3	C	T	14: 56,120,956 (GRCm39)	V122M	probably damaging	Het
Cox10	C	T	11: 63,855,042 (GRCm39)	C413Y	possibly damaging	Het
Ctsll3	T	A	13: 60,948,823 (GRCm39)	D44V	probably benign	Het
Cuzd1	A	T	7: 130,911,529 (GRCm39)	N483K	possibly damaging	Het
Dcaf4	G	A	12: 83,580,785 (GRCm39)		probably null	Het
Ddx60	A	G	8: 62,411,147 (GRCm39)	T470A	probably benign	Het
Dennd1b	T	C	1: 138,967,742 (GRCm39)	V44A	probably benign	Het
Dusp16	C	A	6: 134,716,846 (GRCm39)	V154F	possibly damaging	Het
Ect2	G	A	3: 27,181,097 (GRCm39)	R586*	probably null	Het
Ermard	T	A	17: 15,279,084 (GRCm39)	C460*	probably null	Het
Fat2	C	T	11: 55,146,936 (GRCm39)	G4020D	possibly damaging	Het
Flacc1	T	A	1: 58,698,258 (GRCm39)	I348F	probably benign	Het
Galnt16	G	T	12: 80,639,191 (GRCm39)	E402*	probably null	Het
Gm5414	T	G	15: 101,534,258 (GRCm39)	D282A	probably damaging	Het
Gm6741	C	T	17: 91,544,344 (GRCm39)	Q36*	probably null	Het
Gm7356	A	T	17: 14,221,720 (GRCm39)	L103Q	probably damaging	Het
Hcn1	A	G	13: 118,112,411 (GRCm39)	T792A	possibly damaging	Het
Hemgn	T	C	4: 46,395,863 (GRCm39)	N458D	probably benign	Het
Hesx1	C	A	14: 26,723,838 (GRCm39)	D140E	probably benign	Het
Hjv	A	T	3: 96,435,813 (GRCm39)	D357V	probably damaging	Het
Hmgcr	A	G	13: 96,799,605 (GRCm39)	I163T	possibly damaging	Het
Igfbpl1	T	C	4: 45,813,469 (GRCm39)	T249A	possibly damaging	Het
Il33	A	T	19: 29,930,139 (GRCm39)	H78L	probably benign	Het
Inpp4b	A	T	8: 82,768,564 (GRCm39)	D691V	probably damaging	Het
Itpr2	T	A	6: 146,131,369 (GRCm39)	N1945I	probably damaging	Het
Lnpep	A	G	17: 17,799,289 (GRCm39)	V122A	probably benign	Het
Lrp2	T	C	2: 69,305,747 (GRCm39)	D2938G	probably damaging	Het
Lrrc8c	A	T	5: 105,756,403 (GRCm39)	Y726F	probably benign	Het
Magi3	G	T	3: 103,922,842 (GRCm39)	Q1292K	probably benign	Het
Mllt3	A	C	4: 87,692,324 (GRCm39)	F546L	probably damaging	Het
Mrpl14	A	G	17: 46,009,147 (GRCm39)	K82R	probably benign	Het
Noxred1	A	G	12: 87,271,653 (GRCm39)	V172A	possibly damaging	Het
Obscn	A	T	11: 59,023,948 (GRCm39)	I574N	probably damaging	Het
Or2n1b	A	G	17: 38,460,060 (GRCm39)	T194A	probably benign	Het
Or5k8	T	A	16: 58,644,671 (GRCm39)	T134S	probably benign	Het
Osbpl11	T	A	16: 33,054,864 (GRCm39)	V649D	probably benign	Het
Pdlim2	G	T	14: 70,403,579 (GRCm39)	P278T	probably benign	Het
Pm20d2	A	C	4: 33,183,152 (GRCm39)	L223V	probably damaging	Het
Pmpcb	G	T	5: 21,948,388 (GRCm39)	R223L	probably damaging	Het
Rims1	T	A	1: 22,467,684 (GRCm39)	I317L		Het
Scnn1g	C	A	7: 121,341,554 (GRCm39)	H239N	probably benign	Het
Spag17	A	G	3: 100,010,426 (GRCm39)		probably null	Het
Tenm3	A	T	8: 48,746,692 (GRCm39)	F1038I	probably damaging	Het
Tshz2	T	C	2: 169,727,971 (GRCm39)	F856L	probably damaging	Het
Ubtf	A	G	11: 102,197,508 (GRCm39)	S715P	unknown	Het
Usp13	A	C	3: 32,959,579 (GRCm39)	S557R	probably damaging	Het
Usp19	T	A	9: 108,370,169 (GRCm39)	S43T	probably benign	Het
Vmn2r7	A	T	3: 64,623,397 (GRCm39)	Y308N	probably benign	Het
Zfp455	A	G	13: 67,346,685 (GRCm39)	D32G	probably damaging	Het
Zfp512	T	A	5: 31,634,225 (GRCm39)		probably null	Het
Zfr	A	G	15: 12,166,244 (GRCm39)	E838G	possibly 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
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
R2067:Pole2	UTSW	12	69,274,926 (GRCm39)	missense	probably benign	0.01
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'- GCTTTAACTGTGAAAGCTTTGGC -3'
(R):5'- GTCCTCCATAGACGGTGTCATG -3'

Sequencing Primer
(F):5'- GTCTCAGGTTCCCATGTAACAGG -3'
(R):5'- CCATAGACGGTGTCATGTGTGTG -3'

Posted On

2019-06-07