Mutagenetix > Incidental Mutations

Incidental Mutation 'R5469:Pold2'

433415

Institutional Source

Beutler Lab

Gene Symbol

Pold2

Ensembl Gene

ENSMUSG00000020471

Gene Name

polymerase (DNA directed), delta 2, regulatory subunit

Synonyms

p50, 50kDa, po1D2

MMRRC Submission

043030-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5469 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

5872180-5878292 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5873048 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 376 (P376S)

Ref Sequence

ENSEMBL: ENSMUSP00000099986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102922] [ENSMUST00000102923] [ENSMUST00000109829] [ENSMUST00000153995]

Predicted Effect

probably damaging
Transcript: ENSMUST00000102922
AA Change: P376S

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

SMART Domains

Protein: ENSMUSP00000099986
Gene: ENSMUSG00000020471
AA Change: P376S

Domain	Start	End	E-Value	Type
Pfam:DNA_pol_E_B	196	412	1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102923

SMART Domains

Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	33	46	N/A	INTRINSIC
low complexity region	85	102	N/A	INTRINSIC
low complexity region	113	159	N/A	INTRINSIC
low complexity region	217	229	N/A	INTRINSIC
low complexity region	264	290	N/A	INTRINSIC
low complexity region	324	341	N/A	INTRINSIC
FA58C	375	531	8.72e-46	SMART
Zn_pept	555	983	5.56e-43	SMART
low complexity region	1005	1029	N/A	INTRINSIC
low complexity region	1035	1052	N/A	INTRINSIC
low complexity region	1069	1089	N/A	INTRINSIC
low complexity region	1092	1106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109829

SMART Domains

Protein: ENSMUSP00000105454
Gene: ENSMUSG00000020473

Domain	Start	End	E-Value	Type
FA58C	1	151	2.04e-37	SMART
Zn_pept	175	603	5.56e-43	SMART
low complexity region	625	649	N/A	INTRINSIC
low complexity region	655	672	N/A	INTRINSIC
low complexity region	689	709	N/A	INTRINSIC
low complexity region	712	726	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141907

Predicted Effect

probably benign
Transcript: ENSMUST00000153995

SMART Domains

Protein: ENSMUSP00000122906
Gene: ENSMUSG00000020471

Domain	Start	End	E-Value	Type
PDB:3E0J\|G	1	241	1e-142	PDB

Meta Mutation Damage Score

0.9595

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Allc	A	T	12: 28,555,306	N331K	probably benign	Het
Anapc1	G	T	2: 128,675,701	S341*	probably null	Het
Cacna1e	T	C	1: 154,443,937	E1339G	probably damaging	Het
Cacna2d1	T	A	5: 16,352,678	I702N	probably damaging	Het
Casp2	C	A	6: 42,269,334	H209N	probably benign	Het
Casr	A	G	16: 36,510,030	V314A	probably benign	Het
Ccne2	A	T	4: 11,201,353	R294*	probably null	Het
Cd180	T	A	13: 102,704,834	H129Q	probably benign	Het
Chst10	A	T	1: 38,865,527	Y362N	probably damaging	Het
Ctnna1	T	A	18: 35,239,520	D509E	probably benign	Het
Ctsh	G	T	9: 90,060,511		probably null	Het
Dhx29	C	T	13: 112,944,539	A369V	possibly damaging	Het
Enox1	A	G	14: 77,592,974	T340A	probably benign	Het
Fam135b	T	A	15: 71,446,043	T1357S	probably benign	Het
Flt3	A	T	5: 147,355,083	S544T	possibly damaging	Het
Gm12689	T	C	4: 99,296,165	I85T	unknown	Het
Gsap	A	T	5: 21,290,544	Y831F	possibly damaging	Het
Hnrnpr	C	T	4: 136,319,434	T142M	probably damaging	Het
Jak3	A	G	8: 71,678,773	D94G	probably benign	Het
Ktn1	A	T	14: 47,690,920	E579D	probably damaging	Het
Lama2	G	A	10: 27,041,189	P2247S	possibly damaging	Het
Lrba	C	T	3: 86,542,641	S2089F	probably damaging	Het
Map1b	C	T	13: 99,429,338	V2292M	unknown	Het
Mphosph10	A	T	7: 64,389,445		probably null	Het
Pappa	C	T	4: 65,205,152	T908M	probably benign	Het
Pdcd10	T	A	3: 75,521,057	K150*	probably null	Het
Piezo2	A	T	18: 63,027,864	I2275N	probably damaging	Het
Pmvk	T	C	3: 89,467,682		probably null	Het
Prtg	A	T	9: 72,891,965	Q759L	probably damaging	Het
Rad51ap1	C	T	6: 126,928,227	S107N	probably damaging	Het
Rfk	T	A	19: 17,395,202	N29K	probably damaging	Het
Ror2	T	C	13: 53,117,339	M315V	probably benign	Het
Rrn3	A	G	16: 13,813,100	E600G	probably benign	Het
Ryk	A	G	9: 102,906,954	Y593C	possibly damaging	Het
Slc30a3	T	A	5: 31,088,660	D193V	probably damaging	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Srbd1	C	A	17: 86,119,942	C421F	possibly damaging	Het
Sstr5	A	C	17: 25,492,069	V62G	probably damaging	Het
Tfip11	G	A	5: 112,334,325	W483*	probably null	Het
Tlk1	T	C	2: 70,721,668	H553R	probably benign	Het
Tnc	T	C	4: 64,013,925		probably null	Het
Trav12-1	A	G	14: 53,538,473	T27A	probably damaging	Het
Usp9y	G	A	Y: 1,364,714	T1033I	probably benign	Het
V1ra8	C	T	6: 90,203,204	H130Y	probably benign	Het
Vmn2r77	A	T	7: 86,802,063	M386L	probably benign	Het

Other mutations in Pold2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Pold2	APN	11	5872412	missense	probably benign	0.00
IGL00784:Pold2	APN	11	5872412	missense	probably benign	0.00
IGL01014:Pold2	APN	11	5872293	missense	probably benign
R0056:Pold2	UTSW	11	5872338	missense	possibly damaging	0.82
R0111:Pold2	UTSW	11	5876760	missense	probably damaging	1.00
R0392:Pold2	UTSW	11	5876776	missense	possibly damaging	0.57
R1023:Pold2	UTSW	11	5875140	missense	probably benign	0.01
R1496:Pold2	UTSW	11	5874175	missense	possibly damaging	0.91
R1521:Pold2	UTSW	11	5876833	missense	probably damaging	0.99
R1835:Pold2	UTSW	11	5873454	missense	possibly damaging	0.56
R1836:Pold2	UTSW	11	5873454	missense	possibly damaging	0.56
R2032:Pold2	UTSW	11	5876757	missense	probably benign
R2055:Pold2	UTSW	11	5873516	nonsense	probably null
R5288:Pold2	UTSW	11	5876760	missense	probably damaging	1.00
R5384:Pold2	UTSW	11	5876760	missense	probably damaging	1.00
R5385:Pold2	UTSW	11	5876760	missense	probably damaging	1.00
R5470:Pold2	UTSW	11	5873048	missense	probably damaging	1.00
R6232:Pold2	UTSW	11	5873691	missense	probably benign	0.03
R7147:Pold2	UTSW	11	5873095	missense	probably benign	0.41
R7886:Pold2	UTSW	11	5872714	missense	probably damaging	1.00
R8147:Pold2	UTSW	11	5876842	missense	probably benign
R8353:Pold2	UTSW	11	5875104	missense	probably damaging	0.99
R8453:Pold2	UTSW	11	5875104	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCTGTATGCCCCTAGTCTG -3'
(R):5'- ATCAGGTGGGATCTCAGATAGTC -3'

Sequencing Primer
(F):5'- GTATGCCCCTAGTCTGTATGGTAC -3'
(R):5'- ATCTCAGATAGTCTATGTAGGTGGG -3'

Posted On

2016-10-06