Mutagenetix > Incidental Mutation

Incidental Mutation 'R0111:Pold2'

20465

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

038397-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0111 (G1)

Quality Score

208

Status

Validated (trace)

Chromosome

Chromosomal Location

5822180-5828256 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5826760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 58 (L58P)

Ref Sequence

ENSEMBL: ENSMUSP00000122906 (fasta)

Gene Model

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

AlphaFold

O35654

Predicted Effect

probably damaging
Transcript: ENSMUST00000102922
AA Change: L58P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099986
Gene: ENSMUSG00000020471
AA Change: L58P

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 damaging
Transcript: ENSMUST00000153995
AA Change: L58P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122906
Gene: ENSMUSG00000020471
AA Change: L58P

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

Meta Mutation Damage Score

0.9705

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.8%

Validation Efficiency

100% (65/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	T	17: 56,124,073 (GRCm39)	H491L	possibly damaging	Het
Adgrg3	T	C	8: 95,761,738 (GRCm39)		probably benign	Het
Arhgap5	T	C	12: 52,606,743 (GRCm39)		probably benign	Het
Asic1	T	C	15: 99,594,864 (GRCm39)	Y334H	probably damaging	Het
Calcr	T	A	6: 3,717,157 (GRCm39)	D101V	probably damaging	Het
Cdh2	A	T	18: 16,907,566 (GRCm39)	N57K	probably benign	Het
Clec4d	C	A	6: 123,245,006 (GRCm39)	Y95*	probably null	Het
Cracr2a	A	G	6: 127,581,024 (GRCm39)	T67A	probably benign	Het
Dennd5a	A	T	7: 109,533,961 (GRCm39)	V53D	probably damaging	Het
Dnah7a	T	C	1: 53,507,843 (GRCm39)	D3076G	probably benign	Het
Espnl	T	C	1: 91,272,464 (GRCm39)	M608T	probably benign	Het
Fam149a	C	T	8: 45,794,183 (GRCm39)		probably benign	Het
Flnc	T	C	6: 29,454,339 (GRCm39)	V1884A	probably damaging	Het
Helz2	A	C	2: 180,879,595 (GRCm39)	S674R	probably benign	Het
Hoxa2	T	G	6: 52,141,467 (GRCm39)		probably null	Het
Ifi47	T	A	11: 48,986,897 (GRCm39)	N221K	probably damaging	Het
Ipo9	A	G	1: 135,333,662 (GRCm39)	V340A	probably damaging	Het
Kalrn	A	T	16: 33,851,960 (GRCm39)	N373K	probably damaging	Het
Kif26a	T	C	12: 112,129,771 (GRCm39)		probably benign	Het
Kiss1r	A	G	10: 79,754,523 (GRCm39)	T6A	possibly damaging	Het
Lama1	A	T	17: 68,044,493 (GRCm39)	I131F	probably damaging	Het
Nefm	T	C	14: 68,361,991 (GRCm39)	D91G	probably benign	Het
Nos3	C	T	5: 24,577,702 (GRCm39)	T572I	probably damaging	Het
Notch2	T	C	3: 98,046,077 (GRCm39)	F1710L	probably benign	Het
Or13e8	T	C	4: 43,696,648 (GRCm39)	N175S	probably damaging	Het
Or6c6c	T	A	10: 129,541,146 (GRCm39)	I133N	probably damaging	Het
Ostm1	T	C	10: 42,555,254 (GRCm39)	L92P	probably damaging	Het
Pcdh15	T	A	10: 74,462,651 (GRCm39)	Y1445*	probably null	Het
Pde1b	T	C	15: 103,411,940 (GRCm39)	S14P	probably benign	Het
Pitpna	T	C	11: 75,516,310 (GRCm39)	V265A	probably benign	Het
Plec	G	T	15: 76,062,846 (GRCm39)	T2476K	probably damaging	Het
Ppp3cc	C	T	14: 70,493,808 (GRCm39)		probably null	Het
Prss36	A	G	7: 127,533,717 (GRCm39)	L530P	probably damaging	Het
Ptpn13	T	C	5: 103,728,629 (GRCm39)		probably benign	Het
Ptpn23	T	C	9: 110,214,691 (GRCm39)	D1570G	probably damaging	Het
Rab42	T	C	4: 132,029,676 (GRCm39)	D182G	possibly damaging	Het
Rbm27	T	A	18: 42,438,737 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,414,983 (GRCm39)	E2043G	probably damaging	Het
Rufy3	C	T	5: 88,778,443 (GRCm39)	S341F	probably damaging	Het
Samd9l	C	T	6: 3,374,946 (GRCm39)	V772I	possibly damaging	Het
Scaper	A	G	9: 55,510,074 (GRCm39)	M654T	probably benign	Het
Shld2	T	C	14: 33,989,686 (GRCm39)	K407E	probably damaging	Het
Sipa1l3	G	A	7: 29,047,743 (GRCm39)	P333S	probably damaging	Het
Slc30a10	C	A	1: 185,187,744 (GRCm39)	R162S	probably benign	Het
Spryd3	A	T	15: 102,036,972 (GRCm39)		probably null	Het
Tas2r110	T	C	6: 132,845,166 (GRCm39)	F66L	probably benign	Het
Tent5c	T	C	3: 100,380,102 (GRCm39)	D218G	probably damaging	Het
Thap2	T	C	10: 115,208,532 (GRCm39)	N196S	probably benign	Het
Themis2	C	A	4: 132,517,236 (GRCm39)	R88L	probably benign	Het
Trip12	A	T	1: 84,736,854 (GRCm39)		probably benign	Het
Ube3b	T	A	5: 114,528,437 (GRCm39)		probably benign	Het
Usp20	T	A	2: 30,892,624 (GRCm39)	H64Q	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r15	T	C	5: 109,435,022 (GRCm39)	R561G	possibly damaging	Het
Vsig10l	A	G	7: 43,117,525 (GRCm39)	D604G	probably damaging	Het
Wdr90	A	G	17: 26,067,418 (GRCm39)		probably benign	Het
Xirp2	A	T	2: 67,338,722 (GRCm39)	N321I	probably damaging	Het
Zfp595	A	G	13: 67,468,984 (GRCm39)	F11S	possibly damaging	Het
Zfp953	T	A	13: 67,491,139 (GRCm39)	H271L	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
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
R2032:Pold2	UTSW	11	5,826,757 (GRCm39)	missense	probably benign
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'- GATGGAACAGTAGCCATCACTGCC -3'
(R):5'- TGCTTGGACCAAACAAGCCAGGAG -3'

Sequencing Primer
(F):5'- TCTGACCAGACTCTGGGC -3'
(R):5'- AGGAGTGCCGCCATGTTC -3'

Posted On

2013-04-11