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

045010-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69248547-69274969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69260680 bp (GRCm39)

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: 98,070,026 (GRCm39)	R620G	probably benign	Het
Adcy1	A	C	11: 7,029,026 (GRCm39)	N259H	probably damaging	Het
Ahctf1	G	A	1: 179,598,480 (GRCm39)	R2*	probably null	Het
Akr1c21	A	G	13: 4,633,850 (GRCm39)	I306M	probably benign	Het
Alg9	T	A	9: 50,700,921 (GRCm39)	S230R	possibly damaging	Het
Armt1	T	A	10: 4,403,937 (GRCm39)	C341S	probably benign	Het
Aspg	T	A	12: 112,078,628 (GRCm39)	L29M	probably damaging	Het
Aspm	C	T	1: 139,397,210 (GRCm39)	T934I	probably damaging	Het
C1rl	T	C	6: 124,485,861 (GRCm39)	S411P	probably damaging	Het
Card14	A	G	11: 119,213,725 (GRCm39)	E224G	probably damaging	Het
Ccdc88c	T	C	12: 100,883,111 (GRCm39)	H1587R	probably damaging	Het
Ccp110	A	G	7: 118,332,120 (GRCm39)	T963A	possibly damaging	Het
Cdk11b	G	A	4: 155,732,800 (GRCm39)	W546*	probably null	Het
Cyp8b1	T	C	9: 121,745,059 (GRCm39)	N91S	probably benign	Het
Dab2	G	T	15: 6,454,130 (GRCm39)	M213I	possibly damaging	Het
Decr1	A	G	4: 15,930,960 (GRCm39)	V124A	probably damaging	Het
Fbxl13	T	A	5: 21,748,687 (GRCm39)	I411F	probably damaging	Het
Fbxl13	T	C	5: 21,825,611 (GRCm39)	I164V	probably null	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Garem2	T	C	5: 30,319,168 (GRCm39)	M210T	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Ighv1-52	C	A	12: 115,109,112 (GRCm39)	A115S	probably benign	Het
Igkv6-13	A	G	6: 70,434,573 (GRCm39)	S91P	probably damaging	Het
Ints8	T	A	4: 11,204,537 (GRCm39)	E973V	possibly damaging	Het
Itga3	T	C	11: 94,942,288 (GRCm39)	K972R	probably benign	Het
Klhl33	A	T	14: 51,130,478 (GRCm39)	F339I	probably benign	Het
Krt79	T	C	15: 101,846,307 (GRCm39)	M214V	probably benign	Het
Lgsn	A	T	1: 31,243,274 (GRCm39)	H452L	probably benign	Het
Limd2	C	T	11: 106,049,516 (GRCm39)	G124D	probably benign	Het
Luzp1	T	C	4: 136,270,755 (GRCm39)	S993P	probably damaging	Het
Maml2	C	T	9: 13,532,481 (GRCm39)		probably benign	Het
Mbtd1	A	T	11: 93,815,438 (GRCm39)	H342L	probably damaging	Het
Mfhas1	C	A	8: 36,058,510 (GRCm39)	P995Q	probably damaging	Het
Muc5ac	T	C	7: 141,372,451 (GRCm39)	F3399S	possibly damaging	Het
Napb	T	C	2: 148,542,345 (GRCm39)	Y205C	probably damaging	Het
Odf2	G	T	2: 29,802,629 (GRCm39)	A298S	probably benign	Het
Or11g7	A	T	14: 50,690,890 (GRCm39)	Y127F	probably benign	Het
Or4s2b	A	T	2: 88,508,852 (GRCm39)	I218F	probably benign	Het
Or8k35	A	T	2: 86,424,488 (GRCm39)	M228K	probably damaging	Het
Pcsk5	T	C	19: 17,450,476 (GRCm39)	D1124G	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pik3c2b	T	G	1: 133,030,110 (GRCm39)	I1457S	probably benign	Het
Rfx7	T	A	9: 72,525,787 (GRCm39)	S992R	probably damaging	Het
Ryr2	G	T	13: 11,727,052 (GRCm39)	S2436R	probably damaging	Het
Sgo2a	A	G	1: 58,055,799 (GRCm39)	D661G	probably damaging	Het
Sh3glb2	T	A	2: 30,245,333 (GRCm39)	T49S	probably damaging	Het
Slc16a10	T	C	10: 39,932,499 (GRCm39)	K354R	possibly damaging	Het
Slc6a6	C	A	6: 91,729,419 (GRCm39)	T568K	probably benign	Het
Sptbn1	T	C	11: 30,050,633 (GRCm39)	T2319A	probably damaging	Het
Tbl1xr1	T	A	3: 22,233,454 (GRCm39)	Y15N	probably damaging	Het
Thyn1	T	C	9: 26,917,738 (GRCm39)	S160P	probably damaging	Het
Tshz1	A	T	18: 84,033,966 (GRCm39)	D147E	probably benign	Het
Vmn2r50	T	G	7: 9,771,684 (GRCm39)	R672S	probably benign	Het
Zfp663	A	T	2: 165,195,922 (GRCm39)	I99N	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
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
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
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'- GGCAAAGCTCGTCAAACTTAAC -3'
(R):5'- GGATATTGTTCAGACTACTGCTTGG -3'

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

Posted On

2019-05-13