Mutagenetix > Incidental Mutation

Incidental Mutation 'R6998:Pole2'

544360

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69201773-69228195 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69213906 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 167 (T167A)

Ref Sequence

ENSEMBL: ENSMUSP00000152262 (fasta)

Gene Model

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

AlphaFold

O54956

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021359
AA Change: T167A

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974
AA Change: T167A

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

possibly damaging
Transcript: ENSMUST00000221411
AA Change: T167A

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,162,710	R620G	probably benign	Het
Adcy1	A	C	11: 7,079,026	N259H	probably damaging	Het
Ahctf1	G	A	1: 179,770,915	R2*	probably null	Het
Akr1c21	A	G	13: 4,583,851	I306M	probably benign	Het
Alg9	T	A	9: 50,789,621	S230R	possibly damaging	Het
Armt1	T	A	10: 4,453,937	C341S	probably benign	Het
Aspg	T	A	12: 112,112,194	L29M	probably damaging	Het
Aspm	C	T	1: 139,469,472	T934I	probably damaging	Het
C1rl	T	C	6: 124,508,902	S411P	probably damaging	Het
Card14	A	G	11: 119,322,899	E224G	probably damaging	Het
Ccdc88c	T	C	12: 100,916,852	H1587R	probably damaging	Het
Ccp110	A	G	7: 118,732,897	T963A	possibly damaging	Het
Cdk11b	G	A	4: 155,648,343	W546*	probably null	Het
Cyp8b1	T	C	9: 121,915,993	N91S	probably benign	Het
Dab2	G	T	15: 6,424,649	M213I	possibly damaging	Het
Decr1	A	G	4: 15,930,960	V124A	probably damaging	Het
Fbxl13	T	A	5: 21,543,689	I411F	probably damaging	Het
Fbxl13	T	C	5: 21,620,613	I164V	probably null	Het
Fndc7	G	A	3: 108,876,648	A215V	probably benign	Het
Garem2	T	C	5: 30,114,170	M210T	possibly damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Ighv1-52	C	A	12: 115,145,492	A115S	probably benign	Het
Igkv6-13	A	G	6: 70,457,589	S91P	probably damaging	Het
Ints8	T	A	4: 11,204,537	E973V	possibly damaging	Het
Itga3	T	C	11: 95,051,462	K972R	probably benign	Het
Klhl33	A	T	14: 50,893,021	F339I	probably benign	Het
Krt79	T	C	15: 101,937,872	M214V	probably benign	Het
Lgsn	A	T	1: 31,204,193	H452L	probably benign	Het
Limd2	C	T	11: 106,158,690	G124D	probably benign	Het
Luzp1	T	C	4: 136,543,444	S993P	probably damaging	Het
Maml2	C	T	9: 13,621,185		probably benign	Het
Mbtd1	A	T	11: 93,924,612	H342L	probably damaging	Het
Mfhas1	C	A	8: 35,591,356	P995Q	probably damaging	Het
Muc5ac	T	C	7: 141,818,714	F3399S	possibly damaging	Het
Napb	T	C	2: 148,700,425	Y205C	probably damaging	Het
Odf2	G	T	2: 29,912,617	A298S	probably benign	Het
Olfr1082	A	T	2: 86,594,144	M228K	probably damaging	Het
Olfr1193	A	T	2: 88,678,508	I218F	probably benign	Het
Olfr740	A	T	14: 50,453,433	Y127F	probably benign	Het
Pcsk5	T	C	19: 17,473,112	D1124G	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pik3c2b	T	G	1: 133,102,372	I1457S	probably benign	Het
Rfx7	T	A	9: 72,618,505	S992R	probably damaging	Het
Ryr2	G	T	13: 11,712,166	S2436R	probably damaging	Het
Sgo2a	A	G	1: 58,016,640	D661G	probably damaging	Het
Sh3glb2	T	A	2: 30,355,321	T49S	probably damaging	Het
Slc16a10	T	C	10: 40,056,503	K354R	possibly damaging	Het
Slc6a6	C	A	6: 91,752,438	T568K	probably benign	Het
Sptbn1	T	C	11: 30,100,633	T2319A	probably damaging	Het
Tbl1xr1	T	A	3: 22,179,290	Y15N	probably damaging	Het
Thyn1	T	C	9: 27,006,442	S160P	probably damaging	Het
Tshz1	A	T	18: 84,015,841	D147E	probably benign	Het
Vmn2r50	T	G	7: 10,037,757	R672S	probably benign	Het
Zfp663	A	T	2: 165,354,002	I99N	possibly damaging	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
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
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'- GGCAAAGCTCGTCAAACTTAAC -3'
(R):5'- GGATATTGTTCAGACTACTGCTTGG -3'

Sequencing Primer
(F):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- TGAGAATTCAAGCTCACCTTCAGGG -3'

Posted On

2019-05-13