Mutagenetix > Incidental Mutation

Incidental Mutation 'R6232:Pold2'

504695

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

044360-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5822180-5828256 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5823691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 287 (S287G)

Ref Sequence

ENSEMBL: ENSMUSP00000099986 (fasta)

Gene Model

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

AlphaFold

O35654

Predicted Effect

probably benign
Transcript: ENSMUST00000102922
AA Change: S287G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099986
Gene: ENSMUSG00000020471
AA Change: S287G

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

0.1095

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

94% (64/68)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,268,933 (GRCm39)	V198A	possibly damaging	Het
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adgra2	A	T	8: 27,609,193 (GRCm39)	M805L	probably benign	Het
Arhgap39	T	C	15: 76,620,712 (GRCm39)	S630G	probably damaging	Het
Bcl3	T	A	7: 19,546,409 (GRCm39)	N142I	probably damaging	Het
Cfap210	C	T	2: 69,602,398 (GRCm39)	E338K	possibly damaging	Het
Chuk	A	T	19: 44,085,431 (GRCm39)	D238E	probably benign	Het
Cnga4	T	G	7: 105,056,906 (GRCm39)	Y336*	probably null	Het
Cyp2j8	A	T	4: 96,395,427 (GRCm39)	L66Q	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dst	T	A	1: 34,227,253 (GRCm39)	D1290E	probably damaging	Het
Dysf	T	C	6: 84,075,235 (GRCm39)	I583T	probably benign	Het
Eif1ad13	A	T	12: 87,762,351 (GRCm39)	R24*	probably null	Het
Fbxl2	T	A	9: 113,815,516 (GRCm39)	D249V	probably damaging	Het
Fbxo30	A	T	10: 11,165,602 (GRCm39)	Y108F	possibly damaging	Het
Fibin	G	T	2: 110,193,041 (GRCm39)	H34N	probably damaging	Het
Gabrr1	A	G	4: 33,161,632 (GRCm39)	I319V	probably benign	Het
Gfm1	G	T	3: 67,375,215 (GRCm39)	L559F	possibly damaging	Het
Gm5134	T	A	10: 75,821,859 (GRCm39)	L231Q	possibly damaging	Het
Grm5	A	G	7: 87,251,638 (GRCm39)		probably benign	Het
Hbs1l	T	A	10: 21,183,657 (GRCm39)		probably null	Het
Hsf5	C	G	11: 87,508,120 (GRCm39)	T8S	probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Inpp4b	A	G	8: 82,678,813 (GRCm39)	Q281R	probably damaging	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Ldlrap1	C	T	4: 134,486,345 (GRCm39)	R38Q	possibly damaging	Het
Lepr	A	G	4: 101,671,588 (GRCm39)		probably null	Het
Map3k12	A	G	15: 102,412,081 (GRCm39)	S328P	probably damaging	Het
Mrpl2	T	C	17: 46,958,356 (GRCm39)	V46A	probably benign	Het
Muc16	A	T	9: 18,568,294 (GRCm39)	N1408K	unknown	Het
Myh7	T	A	14: 55,226,753 (GRCm39)	Q366L	probably benign	Het
Nbeal2	A	G	9: 110,467,802 (GRCm39)	V462A	probably damaging	Het
Nradd	G	T	9: 110,450,655 (GRCm39)	T174N	probably damaging	Het
Nup155	T	C	15: 8,138,963 (GRCm39)	S12P	probably benign	Het
Obscn	C	A	11: 58,943,337 (GRCm39)	E4832*	probably null	Het
Opn3	G	A	1: 175,490,669 (GRCm39)	R331W	probably damaging	Het
Or2ag15	A	T	7: 106,340,761 (GRCm39)	C127S	probably damaging	Het
Or2w3	T	A	11: 58,556,757 (GRCm39)	V124E	possibly damaging	Het
Or4a66	G	T	2: 88,531,161 (GRCm39)	H171N	probably benign	Het
Or52ae9	T	A	7: 103,389,661 (GRCm39)	H262L	probably damaging	Het
Or5b120	G	A	19: 13,480,427 (GRCm39)	C240Y	probably damaging	Het
Or6b2	T	C	1: 92,408,305 (GRCm39)	I13V	probably benign	Het
Phip	A	G	9: 82,785,234 (GRCm39)	V827A	probably benign	Het
Phldb1	G	A	9: 44,607,414 (GRCm39)	R1264W	probably damaging	Het
Pibf1	T	G	14: 99,424,014 (GRCm39)	I529S	probably benign	Het
Pkp1	T	A	1: 135,814,599 (GRCm39)	I241F	probably benign	Het
Pla2g4f	G	T	2: 120,132,702 (GRCm39)	D711E	possibly damaging	Het
Pold1	A	G	7: 44,190,266 (GRCm39)		probably null	Het
Prg4	T	C	1: 150,331,567 (GRCm39)		probably benign	Het
Prl8a1	T	C	13: 27,759,557 (GRCm39)	E160G	possibly damaging	Het
Rfc4	C	T	16: 22,932,840 (GRCm39)		probably benign	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsph14	G	A	10: 74,797,520 (GRCm39)	R156W	probably benign	Het
Sec61a1	T	C	6: 88,482,150 (GRCm39)	Y457C	probably benign	Het
Sec63	T	A	10: 42,704,861 (GRCm39)		probably null	Het
Spen	T	C	4: 141,244,333 (GRCm39)	E234G	unknown	Het
Sphkap	T	A	1: 83,258,200 (GRCm39)	E181V	probably damaging	Het
Stau2	C	T	1: 16,445,035 (GRCm39)	A298T	probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbc1d23	T	C	16: 56,990,796 (GRCm39)	I661V	probably benign	Het
Thoc6	A	C	17: 23,889,295 (GRCm39)		probably null	Het
Trpv1	T	A	11: 73,141,636 (GRCm39)	M553K	possibly damaging	Het
Ttn	T	C	2: 76,641,579 (GRCm39)	I11760V	probably benign	Het
Vmn1r61	G	A	7: 5,613,850 (GRCm39)	H155Y	probably damaging	Het
Vmn2r41	A	G	7: 8,153,214 (GRCm39)		probably null	Het
Vmn2r74	A	G	7: 85,607,498 (GRCm39)	I75T	possibly damaging	Het
Wwp2	C	A	8: 108,232,977 (GRCm39)	T205K	probably benign	Het
Zfp1003	A	T	2: 177,546,195 (GRCm39)	T40S	probably benign	Het
Zfp747	C	T	7: 126,973,306 (GRCm39)	G288D	probably damaging	Het
Zfp871	CCACAC	CC	17: 32,994,494 (GRCm39)		probably null	Het
Zfp953	G	A	13: 67,491,161 (GRCm39)	L264F	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
R5470:Pold2	UTSW	11	5,823,048 (GRCm39)	missense	probably damaging	1.00
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'- GTTGGTGGGATCAAACTCGC -3'
(R):5'- GTTCAGGGCTTGTCGATCATTC -3'

Sequencing Primer
(F):5'- GGATCAAACTCGCCTGGCATC -3'
(R):5'- GATCATTCGGTATGTGCCCCG -3'

Posted On

2018-02-28