Mutagenetix > Incidental Mutation

Incidental Mutation 'R5470:Pold2'

433478

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

043031-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5470 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

5822180-5828256 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5823048 bp (GRCm39)

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]

AlphaFold

O35654

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: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

99% (79/80)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,215,715 (GRCm39)	I813F	probably damaging	Het
Aqr	G	A	2: 113,988,056 (GRCm39)	L169F	probably damaging	Het
Atp6v1d	G	A	12: 78,892,058 (GRCm39)	R182C	probably benign	Het
Bcl2l13	G	T	6: 120,839,833 (GRCm39)	A44S	probably benign	Het
Brip1	T	C	11: 86,039,368 (GRCm39)	K389E	possibly damaging	Het
C530025M09Rik	G	A	2: 149,673,045 (GRCm39)		probably benign	Het
Ccdc7b	T	A	8: 129,799,081 (GRCm39)	S53T	possibly damaging	Het
Chd8	A	G	14: 52,450,066 (GRCm39)	F154L	probably damaging	Het
Cop1	A	T	1: 159,094,430 (GRCm39)		probably benign	Het
Cyp2c39	A	G	19: 39,501,974 (GRCm39)	K121R	possibly damaging	Het
Cyp3a57	A	G	5: 145,309,429 (GRCm39)	M256V	probably benign	Het
Deup1	T	C	9: 15,493,916 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,830,232 (GRCm39)	N709D	probably benign	Het
Dthd1	A	G	5: 62,976,109 (GRCm39)	Y261C	probably damaging	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
En2	C	T	5: 28,371,922 (GRCm39)	T133M	probably benign	Het
Endou	A	G	15: 97,616,836 (GRCm39)	F229S	probably damaging	Het
Etl4	A	T	2: 20,534,791 (GRCm39)	H79L	probably damaging	Het
Fah	C	T	7: 84,242,393 (GRCm39)		probably null	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fignl1	T	A	11: 11,752,640 (GRCm39)	E138D	probably benign	Het
Fndc3a	A	G	14: 72,812,008 (GRCm39)	L311P	possibly damaging	Het
Gdf9	T	A	11: 53,327,581 (GRCm39)	V179E	probably benign	Het
Gm14129	G	T	2: 148,769,737 (GRCm39)		noncoding transcript	Het
Gorab	A	G	1: 163,220,078 (GRCm39)	I188T	probably damaging	Het
Gpr152	G	A	19: 4,193,128 (GRCm39)	C223Y	probably damaging	Het
Heatr5b	A	T	17: 79,129,008 (GRCm39)		probably null	Het
Hsd17b3	G	T	13: 64,221,713 (GRCm39)	T104N	probably damaging	Het
Il6ra	C	T	3: 89,793,302 (GRCm39)	V283M	probably benign	Het
Klk1b16	A	T	7: 43,786,755 (GRCm39)	I5F	probably damaging	Het
Krt74	G	A	15: 101,662,900 (GRCm39)		noncoding transcript	Het
Lrch3	T	A	16: 32,818,960 (GRCm39)	N650K	probably damaging	Het
Ly96	A	T	1: 16,779,710 (GRCm39)	E126D	probably benign	Het
Mgarp	C	A	3: 51,298,706 (GRCm39)	R66L	possibly damaging	Het
Naalad2	T	A	9: 18,242,147 (GRCm39)	T586S	probably damaging	Het
Ndufaf3	T	C	9: 108,443,643 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,139,450 (GRCm39)	M3055T	possibly damaging	Het
Neo1	G	T	9: 58,838,350 (GRCm39)	A478D	probably damaging	Het
Nmrk1	A	T	19: 18,617,248 (GRCm39)		probably null	Het
Nsl1	T	C	1: 190,812,737 (GRCm39)	M184T	probably benign	Het
Nup133	T	C	8: 124,657,705 (GRCm39)	N410S	probably benign	Het
Opalin	A	G	19: 41,054,970 (GRCm39)	S75P	probably benign	Het
Or1e17	T	C	11: 73,831,696 (GRCm39)	I208T	probably benign	Het
Or3a4	A	G	11: 73,944,733 (GRCm39)	I284T	possibly damaging	Het
Or51ag1	T	G	7: 103,155,716 (GRCm39)	I146L	probably benign	Het
Palb2	C	A	7: 121,713,574 (GRCm39)	C903F	probably damaging	Het
Pcm1	T	A	8: 41,740,720 (GRCm39)	W989R	probably damaging	Het
Pfkfb4	T	A	9: 108,856,661 (GRCm39)	I389N	probably damaging	Het
Pitrm1	T	C	13: 6,603,306 (GRCm39)	C119R	probably benign	Het
Plekha1	T	C	7: 130,510,106 (GRCm39)	V45A	probably damaging	Het
Rcan2	A	G	17: 44,147,174 (GRCm39)	D4G	probably benign	Het
Slc12a1	A	T	2: 125,012,634 (GRCm39)	T299S	probably damaging	Het
Slc22a29	A	T	19: 8,138,880 (GRCm39)	H527Q	probably benign	Het
Slc22a8	G	A	19: 8,585,234 (GRCm39)	R261H	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slco4a1	T	C	2: 180,115,907 (GRCm39)	F681S	probably benign	Het
Sorcs2	A	T	5: 36,188,527 (GRCm39)	H860Q	probably benign	Het
Strn	A	T	17: 78,964,374 (GRCm39)	H530Q	probably benign	Het
Tex14	A	G	11: 87,442,430 (GRCm39)	R179G	probably damaging	Het
Tjp3	T	C	10: 81,115,381 (GRCm39)	D350G	probably benign	Het
Tnrc6b	G	T	15: 80,800,912 (GRCm39)	R1406L	possibly damaging	Het
Tnxb	A	G	17: 34,935,947 (GRCm39)	D2666G	probably null	Het
Ttn	A	T	2: 76,560,208 (GRCm39)	Y27652N	probably benign	Het
Utp20	T	A	10: 88,653,758 (GRCm39)	E287D	probably benign	Het
Vmn1r45	T	C	6: 89,910,698 (GRCm39)	I91V	probably benign	Het
Wdr72	A	T	9: 74,046,981 (GRCm39)	K76*	probably null	Het
Zfp689	C	T	7: 127,043,425 (GRCm39)	A402T	probably damaging	Het
Zfpm1	A	G	8: 123,060,532 (GRCm39)	E207G	probably damaging	Het
Zhx2	G	T	15: 57,686,470 (GRCm39)	R613L	possibly 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
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
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'- AGCTGTATGCCCCTAGTCTG -3'
(R):5'- CATCAGGTGGGATCTCAGATAGTC -3'

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

Posted On

2016-10-06