Mutagenetix > Incidental Mutation

Incidental Mutation 'R0791:Pole2'

82415

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

038971-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0791 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69201773-69228195 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69207929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 381 (L381F)

Ref Sequence

ENSEMBL: ENSMUSP00000152262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021359] [ENSMUST00000221411] [ENSMUST00000222699]

AlphaFold

O54956

Predicted Effect

probably benign
Transcript: ENSMUST00000021359
AA Change: L381F

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974
AA Change: L381F

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 benign
Transcript: ENSMUST00000221411
AA Change: L381F

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221986

Predicted Effect

probably benign
Transcript: ENSMUST00000222699

Meta Mutation Damage Score

0.0840

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	T	19: 45,933,868		probably null	Het
Ahnak	G	A	19: 9,016,734	M5127I	probably benign	Het
Akr1c13	T	C	13: 4,194,112	Y55H	probably damaging	Het
Atp2b2	C	T	6: 113,773,388	R625H	probably damaging	Het
Bpifb2	T	C	2: 153,878,519	V66A	probably benign	Het
Ccdc33	T	C	9: 58,028,763	T950A	possibly damaging	Het
Ceacam19	A	T	7: 19,882,632		probably null	Het
Cenpn	T	A	8: 116,940,820		probably benign	Het
Ces1f	A	T	8: 93,271,889	Y160N	possibly damaging	Het
Clca1	A	C	3: 145,004,854	S863A	probably benign	Het
Cntrl	T	A	2: 35,155,279	I781K	possibly damaging	Het
Dock4	C	T	12: 40,704,481	R490W	probably damaging	Het
Evpl	T	A	11: 116,227,723	Q686L	probably damaging	Het
Fbxw10	A	G	11: 62,847,456	S59G	probably benign	Het
Glb1l2	A	G	9: 26,769,751	V218A	possibly damaging	Het
Gpatch1	A	T	7: 35,281,376		probably benign	Het
Grin2c	G	A	11: 115,250,646	P882L	probably damaging	Het
H2-Ob	C	A	17: 34,242,614	T109N	probably damaging	Het
Ipo8	A	G	6: 148,821,727	V64A	possibly damaging	Het
Jpt2	C	A	17: 24,948,673	A101S	probably benign	Het
Lamc1	C	A	1: 153,234,580	Q1116H	possibly damaging	Het
Lamc1	T	G	1: 153,234,595	Q1111H	probably damaging	Het
Lamc1	T	C	1: 153,234,612	S1106G	probably benign	Het
Large1	A	G	8: 73,048,479		probably benign	Het
Lig4	A	T	8: 9,973,012	V256E	possibly damaging	Het
Mpz	C	A	1: 171,158,774	Q86K	possibly damaging	Het
Mrps24	A	G	11: 5,704,684	V90A	possibly damaging	Het
Mtdh	A	G	15: 34,116,382		probably benign	Het
Mtor	T	C	4: 148,462,910	V450A	probably benign	Het
Mycbpap	A	G	11: 94,511,623		probably null	Het
Myo6	T	A	9: 80,262,374		probably benign	Het
Myom1	A	T	17: 71,121,136	I1450F	probably damaging	Het
Nbas	T	A	12: 13,482,633	S1781T	probably benign	Het
Nedd1	T	C	10: 92,719,614	E3G	probably damaging	Het
Nt5c3	T	C	6: 56,886,749	T149A	probably benign	Het
Olfr477	A	G	7: 107,990,533	H56R	probably benign	Het
Osbp2	G	A	11: 3,711,882		probably benign	Het
Paip1	T	C	13: 119,430,318	S54P	possibly damaging	Het
Prdm14	G	T	1: 13,125,744	A31E	probably benign	Het
Ptpn14	C	T	1: 189,836,440		probably benign	Het
Rims2	A	G	15: 39,679,625		probably benign	Het
Rnf20	A	G	4: 49,638,197	N103S	possibly damaging	Het
Sema3g	T	A	14: 31,220,904		probably benign	Het
Slc30a6	T	C	17: 74,415,645	S236P	possibly damaging	Het
Slc5a1	T	C	5: 33,158,077		probably benign	Het
Snx25	A	T	8: 46,124,082	M1K	probably null	Het
Synpo2	A	G	3: 123,113,186	V827A	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trak2	A	T	1: 58,903,661	M862K	probably benign	Het
Trim42	A	T	9: 97,365,679	H321Q	probably damaging	Het
Twnk	T	C	19: 45,010,254		probably benign	Het
Tymp	T	C	15: 89,374,818	K221R	probably damaging	Het
Uaca	C	A	9: 60,872,059	Q1243K	possibly damaging	Het
Vwa8	T	C	14: 78,994,576		probably benign	Het
Wnt4	C	T	4: 137,289,283	R83W	probably damaging	Het
Zfp820	T	C	17: 21,819,528	D273G	probably benign	Het
Zfp974	A	T	7: 27,910,085	Y738*	probably null	Het
Zkscan4	A	C	13: 21,483,911	E177D	probably benign	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
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
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
R9467:Pole2	UTSW	12	69208945	missense	probably benign	0.40
R9494:Pole2	UTSW	12	69202957	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- GAAGCTGGAGATACCACTGCCAAC -3'
(R):5'- AACTGTAGCTAGGCATCATGGCCC -3'

Sequencing Primer
(F):5'- CAGAGTCACTGCTGGTTAAGTATC -3'
(R):5'- ctagcctagactacatagcaagac -3'

Posted On

2013-11-08