Mutagenetix > Incidental Mutations

Incidental Mutation 'R0069:Pole2'

33116

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

038360-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0069 (G1)

Quality Score

159

Status

Validated (trace)

Chromosome

Chromosomal Location

69201773-69228195 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69209887 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 288 (V288E)

Ref Sequence

ENSEMBL: ENSMUSP00000152262 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021359
AA Change: V288E

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

SMART Domains

Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974
AA Change: V288E

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 damaging
Transcript: ENSMUST00000221411
AA Change: V288E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221806

Meta Mutation Damage Score

0.9487

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.4%

Validation Efficiency

96% (52/54)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,561,562	C632S	probably damaging	Het
Antxr2	T	A	5: 97,948,250	M392L	possibly damaging	Het
Cd101	A	G	3: 101,008,217	V678A	probably benign	Het
Clec2g	T	A	6: 128,948,753	S42T	probably benign	Het
Clec2g	T	C	6: 128,980,311		probably null	Het
Creb1	A	G	1: 64,576,208	I240V	possibly damaging	Het
D2hgdh	G	T	1: 93,835,287	V265L	possibly damaging	Het
Dctn2	A	T	10: 127,277,485		probably null	Het
Diablo	A	T	5: 123,518,024	S117R	probably damaging	Het
Ebf2	A	T	14: 67,410,050	R349S	probably damaging	Het
Fam168a	C	T	7: 100,835,411	A252V	probably benign	Het
Fbn2	T	C	18: 58,069,184	Y1299C	probably damaging	Het
Gne	A	C	4: 44,060,099	V98G	probably damaging	Het
Hk2	A	G	6: 82,736,528		probably null	Het
Ifi206	A	T	1: 173,486,847	V9D	probably damaging	Het
Ints3	A	G	3: 90,400,647		probably benign	Het
Itgal	A	G	7: 127,310,331	T56A	probably benign	Het
Lzts3	T	A	2: 130,636,540	T213S	probably benign	Het
Map1b	A	G	13: 99,429,848	S2122P	unknown	Het
Mei4	C	T	9: 82,025,582	Q223*	probably null	Het
Mpzl3	T	C	9: 45,068,252	V167A	probably damaging	Het
Myo1d	A	G	11: 80,637,953	I681T	probably damaging	Het
Myom2	A	G	8: 15,117,624	T1070A	probably benign	Het
Nacc1	T	A	8: 84,677,199	I16F	probably damaging	Het
Nfx1	T	C	4: 40,986,688		probably benign	Het
Olfr1335	A	T	4: 118,809,690	V58D	probably damaging	Het
Olfr952	A	G	9: 39,426,892	Y60H	probably damaging	Het
Ostm1	A	C	10: 42,692,956	D37A	probably benign	Het
Pde8a	T	C	7: 81,319,123		probably benign	Het
Poteg	T	C	8: 27,447,821	S2P	probably benign	Het
Ppp2r5c	A	T	12: 110,567,770	M356L	probably benign	Het
Prkdc	G	A	16: 15,726,504	S1786N	probably benign	Het
Prox1	A	G	1: 190,160,919	V443A	possibly damaging	Het
Prpf6	T	A	2: 181,615,963		probably null	Het
Ptger1	A	T	8: 83,668,319	T142S	possibly damaging	Het
Rad54l2	C	A	9: 106,710,365	V734L	possibly damaging	Het
Rnpepl1	T	A	1: 92,918,898	N507K	possibly damaging	Het
Slc38a10	A	T	11: 120,106,502	V722E	probably damaging	Het
Slfn10-ps	A	G	11: 83,035,542		noncoding transcript	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Sult1e1	A	T	5: 87,579,897	H175Q	probably damaging	Het
Ube2e3	C	A	2: 78,919,949		probably benign	Het
Vmn1r208	A	T	13: 22,772,425	W301R	probably benign	Het
Vps13d	A	G	4: 145,062,563	I746T	probably benign	Het
Xpnpep3	T	C	15: 81,430,798	V233A	probably benign	Het
Zfp329	A	T	7: 12,810,932	S222T	probably damaging	Het
Zswim6	T	C	13: 107,738,563		noncoding transcript	Het

Other mutations in Pole2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Pole2	APN	12	69226445	splice site	probably benign
IGL00940:Pole2	APN	12	69215360	missense	probably damaging	1.00
IGL01593:Pole2	APN	12	69223099	splice site	probably null
IGL01609:Pole2	APN	12	69207857	critical splice donor site	probably null
IGL01717:Pole2	APN	12	69213849	missense	probably damaging	1.00
IGL02168:Pole2	APN	12	69201886	unclassified	probably benign
IGL02208:Pole2	APN	12	69223162	missense	possibly damaging	0.91
IGL02966:Pole2	APN	12	69209875	missense	probably damaging	1.00
PIT4504001:Pole2	UTSW	12	69209985	nonsense	probably null
R0069:Pole2	UTSW	12	69209887	missense	probably damaging	1.00
R0396:Pole2	UTSW	12	69222386	splice site	probably benign
R0574:Pole2	UTSW	12	69211457	splice site	probably benign
R0620:Pole2	UTSW	12	69209879	missense	probably damaging	1.00
R0685:Pole2	UTSW	12	69211413	missense	probably damaging	0.98
R0791:Pole2	UTSW	12	69207929	missense	probably benign	0.06
R1452:Pole2	UTSW	12	69207929	missense	probably benign	0.06
R1453:Pole2	UTSW	12	69207929	missense	probably benign	0.06
R1455:Pole2	UTSW	12	69207929	missense	probably benign	0.06
R1912:Pole2	UTSW	12	69209990	missense	probably damaging	0.99
R2067:Pole2	UTSW	12	69228152	missense	probably benign	0.01
R2929:Pole2	UTSW	12	69209938	missense	probably benign	0.13
R3016:Pole2	UTSW	12	69222062	missense	probably benign	0.14
R4504:Pole2	UTSW	12	69222468	missense	probably benign	0.00
R4765:Pole2	UTSW	12	69222052	missense	possibly damaging	0.49
R4790:Pole2	UTSW	12	69226365	missense	probably benign	0.00
R4896:Pole2	UTSW	12	69223150	missense	probably damaging	0.97
R6998:Pole2	UTSW	12	69213906	missense	possibly damaging	0.82
R7257:Pole2	UTSW	12	69202910	missense	probably damaging	1.00
R7535:Pole2	UTSW	12	69222429	missense	probably benign	0.10
R7841:Pole2	UTSW	12	69204258	missense	probably damaging	1.00
R8437:Pole2	UTSW	12	69204187	nonsense	probably null
R8506:Pole2	UTSW	12	69208960	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACGTCACTCTGGGAACTGAGAATTTTG -3'
(R):5'- GCACGCATACTGAATAGTCCTCCATAG -3'

Sequencing Primer
(F):5'- tctgtttgtctgtctgtctgtc -3'
(R):5'- CTGAATAGTCCTCCATAGACGGTG -3'

Posted On

2013-05-09