Mutagenetix > Incidental Mutation

Incidental Mutation 'R7257:Pole2'

564357

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

045318-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69248547-69274969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69249684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 521 (D521G)

Ref Sequence

ENSEMBL: ENSMUSP00000021359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021356] [ENSMUST00000021359] [ENSMUST00000221411] [ENSMUST00000222699]

AlphaFold

O54956

Predicted Effect

probably benign
Transcript: ENSMUST00000021356

SMART Domains

Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
Pfam:PIH1	43	352	2e-99	PFAM
low complexity region	360	373	N/A	INTRINSIC
SCOP:d1keka4	398	460	4e-3	SMART
low complexity region	672	693	N/A	INTRINSIC
low complexity region	734	743	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000021359
AA Change: D521G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974
AA Change: D521G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222699
AA Change: D81G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

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

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	T	6: 88,816,434 (GRCm39)	V120E	probably benign	Het
Acot11	G	A	4: 106,615,599 (GRCm39)	T284M	probably damaging	Het
Adk	G	T	14: 21,102,739 (GRCm39)	K11N	probably damaging	Het
Akr1c14	T	A	13: 4,138,966 (GRCm39)	N316K	probably benign	Het
AL732309.1	A	T	2: 25,135,851 (GRCm39)	V121D	probably benign	Het
Amh	C	A	10: 80,642,487 (GRCm39)	Q257K	probably benign	Het
Antxrl	T	G	14: 33,787,806 (GRCm39)	H276Q	probably benign	Het
Atp5po	G	A	16: 91,723,755 (GRCm39)	T105M	probably damaging	Het
Atxn2	T	G	5: 121,923,880 (GRCm39)	N734K	possibly damaging	Het
B3gat3	T	A	19: 8,903,102 (GRCm39)	V153D	probably benign	Het
Brd2	A	G	17: 34,332,796 (GRCm39)	V528A	probably damaging	Het
Camk2g	T	C	14: 20,797,907 (GRCm39)	S335G	probably benign	Het
Cbln2	T	A	18: 86,734,859 (GRCm39)	W211R	probably damaging	Het
Cry2	A	T	2: 92,243,326 (GRCm39)	I505N	possibly damaging	Het
Ddx55	T	A	5: 124,698,784 (GRCm39)	C249S	possibly damaging	Het
Dglucy	A	G	12: 100,808,997 (GRCm39)	T232A	probably damaging	Het
Dhx32	A	G	7: 133,361,206 (GRCm39)	Y76H	probably benign	Het
Dmac2l	T	C	12: 69,788,443 (GRCm39)	I114T	probably damaging	Het
Dock7	T	A	4: 98,861,649 (GRCm39)	N1356I	unknown	Het
Dock8	T	A	19: 25,104,449 (GRCm39)	N710K	probably benign	Het
Dync1i2	T	A	2: 71,079,700 (GRCm39)	N391K	possibly damaging	Het
Ect2	A	G	3: 27,192,684 (GRCm39)	S420P	probably damaging	Het
Efcab5	T	A	11: 77,028,605 (GRCm39)	E242V	probably damaging	Het
Fam83g	T	A	11: 61,575,579 (GRCm39)	Y74N	probably damaging	Het
Fbxo34	T	A	14: 47,738,329 (GRCm39)		probably null	Het
Flt4	A	G	11: 49,516,836 (GRCm39)	T208A	probably benign	Het
Fxyd5	T	A	7: 30,734,576 (GRCm39)	H183L	unknown	Het
Gpr150	T	G	13: 76,204,585 (GRCm39)	D120A	probably benign	Het
Grm7	A	G	6: 110,623,079 (GRCm39)	Y84C	probably damaging	Het
Ighmbp2	A	G	19: 3,316,405 (GRCm39)	S562P	probably damaging	Het
Itga7	A	G	10: 128,780,282 (GRCm39)	Y530C	possibly damaging	Het
Itpr3	T	A	17: 27,337,535 (GRCm39)	D2448E	probably benign	Het
Mmp17	C	A	5: 129,672,697 (GRCm39)	H216Q	probably benign	Het
Mns1	C	T	9: 72,360,097 (GRCm39)	R416W	probably damaging	Het
Mog	A	G	17: 37,334,019 (GRCm39)	S25P	unknown	Het
Myh2	A	G	11: 67,071,976 (GRCm39)	K568R	possibly damaging	Het
Myh7	A	T	14: 55,209,947 (GRCm39)		probably null	Het
Mymk	A	T	2: 26,957,380 (GRCm39)	W79R	probably damaging	Het
Ncoa4	T	G	14: 31,899,326 (GRCm39)	L623R	probably damaging	Het
Oca2	G	A	7: 55,929,286 (GRCm39)		probably benign	Het
Odam	A	C	5: 88,035,404 (GRCm39)	S123R	probably benign	Het
Or14c39	T	A	7: 86,344,012 (GRCm39)	M116K	probably damaging	Het
Or2w1	A	G	13: 21,317,427 (GRCm39)	T161A	probably benign	Het
Or51f1d	T	C	7: 102,700,837 (GRCm39)	F111L	probably benign	Het
Or5d16	A	G	2: 87,773,915 (GRCm39)	F19S	probably damaging	Het
Or6c69	T	A	10: 129,748,156 (GRCm39)		probably benign	Het
Or6c8b	C	T	10: 128,882,324 (GRCm39)	V203M	probably benign	Het
Ovch2	C	T	7: 107,393,640 (GRCm39)	C162Y	probably damaging	Het
Padi1	C	A	4: 140,556,782 (GRCm39)	G142C	probably damaging	Het
Pcdhga4	A	G	18: 37,820,451 (GRCm39)	I667V	probably damaging	Het
Pfas	A	T	11: 68,883,785 (GRCm39)	V624E	probably damaging	Het
Phb1	A	T	11: 95,568,917 (GRCm39)	E184V	probably damaging	Het
Phlpp2	G	T	8: 110,666,820 (GRCm39)	M1116I	probably benign	Het
Pip5kl1	T	C	2: 32,470,443 (GRCm39)		probably null	Het
Pitpnm2	T	A	5: 124,263,419 (GRCm39)	I824F	possibly damaging	Het
Pla2g4c	G	A	7: 13,059,669 (GRCm39)	S2N	possibly damaging	Het
Pla2r1	A	T	2: 60,257,969 (GRCm39)		probably null	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rapgef2	A	T	3: 78,989,934 (GRCm39)	L931Q	probably damaging	Het
Rassf3	G	A	10: 121,248,924 (GRCm39)	Q206*	probably null	Het
Rnf123	T	A	9: 107,946,228 (GRCm39)	T316S	probably damaging	Het
Rnf138	T	A	18: 21,141,750 (GRCm39)		probably null	Het
Septin3	G	A	15: 82,173,414 (GRCm39)	A249T	probably damaging	Het
Slc35a4	A	T	18: 36,812,669 (GRCm39)	D3V	unknown	Het
Sltm	T	A	9: 70,451,247 (GRCm39)		probably null	Het
Smarca2	C	T	19: 26,631,864 (GRCm39)	Q560*	probably null	Het
Tcl1b1	A	T	12: 105,130,790 (GRCm39)	D91V	probably damaging	Het
Tirap	A	T	9: 35,100,330 (GRCm39)	V118E	probably damaging	Het
Tlr5	T	A	1: 182,801,798 (GRCm39)	Y367*	probably null	Het
Tmcc1	A	G	6: 116,084,299 (GRCm39)	F5L	probably benign	Het
Tnxb	A	G	17: 34,935,475 (GRCm39)	M2592V	probably benign	Het
Trim66	T	A	7: 109,059,451 (GRCm39)	E931V	probably damaging	Het
Ttn	A	G	2: 76,571,438 (GRCm39)	I26485T	probably damaging	Het
Veph1	C	A	3: 66,065,703 (GRCm39)	V455L	probably benign	Het
Vmn1r125	A	T	7: 21,006,750 (GRCm39)	H216L	probably damaging	Het
Wdr17	T	A	8: 55,085,522 (GRCm39)	E1200D	probably benign	Het
Zbtb37	T	A	1: 160,860,231 (GRCm39)	N25Y	probably 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
R6998:Pole2	UTSW	12	69,260,680 (GRCm39)	missense	possibly damaging	0.82
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'- GAAACGTGGCAACCAAGATC -3'
(R):5'- ACTAGGAAACGTGATTCTGCATGAC -3'

Sequencing Primer
(F):5'- CGTGGCAACCAAGATCTTAACATGG -3'
(R):5'- GCTAGTTCCAAGTTAGCCAAGGC -3'

Posted On

2019-06-26