Mutagenetix > Incidental Mutation

Incidental Mutation 'R2032:Pold2'

221385

Institutional Source

Beutler Lab

Gene Symbol

Pold2

Ensembl Gene

ENSMUSG00000020471

Gene Name

polymerase (DNA directed), delta 2, regulatory subunit

Synonyms

50kDa, po1D2, p50

MMRRC Submission

040039-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5822180-5828256 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5826757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 59 (I59N)

Ref Sequence

ENSEMBL: ENSMUSP00000122906 (fasta)

Gene Model

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

AlphaFold

O35654

Predicted Effect

probably benign
Transcript: ENSMUST00000102922
AA Change: I59N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099986
Gene: ENSMUSG00000020471
AA Change: I59N

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: ENSMUST00000141907

Predicted Effect

probably benign
Transcript: ENSMUST00000153995
AA Change: I59N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122906
Gene: ENSMUSG00000020471
AA Change: I59N

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

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,585,056 (GRCm39)		probably benign	Het
Abca7	C	T	10: 79,844,071 (GRCm39)	T1359M	probably damaging	Het
Acox2	A	G	14: 8,246,400 (GRCm38)	S464P	probably benign	Het
Adgrf1	C	T	17: 43,622,166 (GRCm39)	T801I	probably damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Akap12	C	A	10: 4,306,673 (GRCm39)	A1161D	possibly damaging	Het
Ankrd36	T	A	11: 5,578,616 (GRCm39)	V635D	possibly damaging	Het
Ankrd44	C	T	1: 54,762,168 (GRCm39)		probably null	Het
Atl2	A	G	17: 80,203,373 (GRCm39)	V28A	probably benign	Het
Atxn3	A	T	12: 101,908,453 (GRCm39)	L133*	probably null	Het
Bmp2	T	C	2: 133,403,216 (GRCm39)	S256P	probably benign	Het
Ccdc121rt3	G	A	5: 112,502,978 (GRCm39)	T242I	possibly damaging	Het
Ccdc138	T	A	10: 58,348,984 (GRCm39)	Y177N	possibly damaging	Het
Ccdc168	C	A	1: 44,100,900 (GRCm39)	C66F	possibly damaging	Het
Cdcp3	G	A	7: 130,844,781 (GRCm39)	G674E	probably damaging	Het
Cep164	C	T	9: 45,682,898 (GRCm39)	V931M	probably damaging	Het
Cfhr4	T	A	1: 139,660,993 (GRCm39)		probably benign	Het
CK137956	T	C	4: 127,839,069 (GRCm39)	T450A	probably benign	Het
Col23a1	G	A	11: 51,450,835 (GRCm39)	G215D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd6a	T	C	14: 26,325,904 (GRCm39)	M5T	probably benign	Het
Dnajc6	T	G	4: 101,471,435 (GRCm39)	I284S	probably benign	Het
Dolpp1	C	T	2: 30,282,453 (GRCm39)	A2V	probably damaging	Het
Eml2	C	T	7: 18,936,480 (GRCm39)	T711I	probably benign	Het
Evi5l	T	C	8: 4,260,622 (GRCm39)	D1065G	probably damaging	Het
Fam110b	G	T	4: 5,799,460 (GRCm39)	A293S	probably benign	Het
Fap	A	G	2: 62,372,581 (GRCm39)	V266A	probably benign	Het
Fgf10	A	T	13: 118,852,131 (GRCm39)	Y71F	probably damaging	Het
Gm3443	G	T	19: 21,533,164 (GRCm39)	G43C	probably damaging	Het
Gpr146	T	C	5: 139,364,902 (GRCm39)		probably benign	Het
Hif3a	A	T	7: 16,785,104 (GRCm39)	L172H	probably damaging	Het
Mas1	T	C	17: 13,061,457 (GRCm39)		probably benign	Het
Nlrp5	G	A	7: 23,120,937 (GRCm39)	R717Q	probably damaging	Het
Nop14	A	G	5: 34,817,283 (GRCm39)	V36A	possibly damaging	Het
Or10v5	C	T	19: 11,805,664 (GRCm39)	C242Y	probably damaging	Het
Or51a39	A	T	7: 102,363,083 (GRCm39)	I179N	probably benign	Het
Or7a41	T	A	10: 78,871,163 (GRCm39)	F178I	possibly damaging	Het
Parp4	T	A	14: 56,866,553 (GRCm39)	I1039K	possibly damaging	Het
Pate12	T	C	9: 36,344,195 (GRCm39)		probably null	Het
Prr36	T	C	8: 4,264,304 (GRCm39)		probably benign	Het
Pyroxd2	T	C	19: 42,716,088 (GRCm39)		probably benign	Het
Recql	C	T	6: 142,313,009 (GRCm39)	G403R	probably damaging	Het
Serpina3m	T	A	12: 104,355,928 (GRCm39)	D198E	probably benign	Het
Sik2	A	T	9: 50,906,947 (GRCm39)	Y93N	probably damaging	Het
Slc27a3	C	T	3: 90,294,704 (GRCm39)	R389H	probably damaging	Het
Slc29a1	A	T	17: 45,897,035 (GRCm39)	M417K	probably damaging	Het
Syt13	A	G	2: 92,783,746 (GRCm39)	K339E	probably damaging	Het
Tmem237	A	T	1: 59,148,265 (GRCm39)	H163Q	probably benign	Het
Tram2	C	T	1: 21,074,180 (GRCm39)	G253R	probably null	Het
Trpv1	A	G	11: 73,129,211 (GRCm39)	T43A	probably benign	Het
Ugt2b34	A	G	5: 87,039,131 (GRCm39)	I510T	probably damaging	Het
Vmn1r224	C	A	17: 20,639,658 (GRCm39)	D78E	probably benign	Het
Vmn1r78	A	T	7: 11,887,210 (GRCm39)	I274L	probably benign	Het
Wdfy4	C	T	14: 32,868,946 (GRCm39)	V361I	probably benign	Het
Zpbp2	A	T	11: 98,445,534 (GRCm39)	K165N	probably damaging	Het

Other mutations in Pold2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Pold2	APN	11	5,822,412 (GRCm39)	missense	probably benign	0.00
IGL00784:Pold2	APN	11	5,822,412 (GRCm39)	missense	probably benign	0.00
IGL01014:Pold2	APN	11	5,822,293 (GRCm39)	missense	probably benign
R0056:Pold2	UTSW	11	5,822,338 (GRCm39)	missense	possibly damaging	0.82
R0111:Pold2	UTSW	11	5,826,760 (GRCm39)	missense	probably damaging	1.00
R0392:Pold2	UTSW	11	5,826,776 (GRCm39)	missense	possibly damaging	0.57
R1023:Pold2	UTSW	11	5,825,140 (GRCm39)	missense	probably benign	0.01
R1496:Pold2	UTSW	11	5,824,175 (GRCm39)	missense	possibly damaging	0.91
R1521:Pold2	UTSW	11	5,826,833 (GRCm39)	missense	probably damaging	0.99
R1835:Pold2	UTSW	11	5,823,454 (GRCm39)	missense	possibly damaging	0.56
R1836:Pold2	UTSW	11	5,823,454 (GRCm39)	missense	possibly damaging	0.56
R2055:Pold2	UTSW	11	5,823,516 (GRCm39)	nonsense	probably null
R5288:Pold2	UTSW	11	5,826,760 (GRCm39)	missense	probably damaging	1.00
R5384:Pold2	UTSW	11	5,826,760 (GRCm39)	missense	probably damaging	1.00
R5385:Pold2	UTSW	11	5,826,760 (GRCm39)	missense	probably damaging	1.00
R5469:Pold2	UTSW	11	5,823,048 (GRCm39)	missense	probably damaging	1.00
R5470:Pold2	UTSW	11	5,823,048 (GRCm39)	missense	probably damaging	1.00
R6232:Pold2	UTSW	11	5,823,691 (GRCm39)	missense	probably benign	0.03
R7147:Pold2	UTSW	11	5,823,095 (GRCm39)	missense	probably benign	0.41
R7886:Pold2	UTSW	11	5,822,714 (GRCm39)	missense	probably damaging	1.00
R8147:Pold2	UTSW	11	5,826,842 (GRCm39)	missense	probably benign
R8353:Pold2	UTSW	11	5,825,104 (GRCm39)	missense	probably damaging	0.99
R8453:Pold2	UTSW	11	5,825,104 (GRCm39)	missense	probably damaging	0.99
R9022:Pold2	UTSW	11	5,824,121 (GRCm39)	missense	probably benign	0.00
R9564:Pold2	UTSW	11	5,824,163 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TAGCCCTTACCTCTGACCAG -3'
(R):5'- CAGCTGCTTGGACCAAACAAG -3'

Sequencing Primer
(F):5'- CCACACAGGTTAATTTAATCCTCAC -3'
(R):5'- AGGAGTGCCGCCATGTTCTC -3'

Posted On

2014-08-25