Mutagenetix > Incidental Mutation

Incidental Mutation 'R8353:Pold2'

645627

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

067805-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5822180-5828256 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5825104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 98 (F98L)

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: F98L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099986
Gene: ENSMUSG00000020471
AA Change: F98L

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

probably damaging
Transcript: ENSMUST00000153995
AA Change: F98L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122906
Gene: ENSMUSG00000020471
AA Change: F98L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	G	T	9: 101,815,884 (GRCm39)	C23F	possibly damaging	Het
Adam29	T	C	8: 56,326,196 (GRCm39)	H86R	possibly damaging	Het
Alas1	C	T	9: 106,113,721 (GRCm39)	R508Q	possibly damaging	Het
Albfm1	A	T	5: 90,714,360 (GRCm39)	R123S	possibly damaging	Het
Ark2n	T	C	18: 77,761,604 (GRCm39)	E236G	probably damaging	Het
Bmp3	G	A	5: 99,003,282 (GRCm39)		probably null	Het
Bud13	A	G	9: 46,199,499 (GRCm39)	T287A	probably benign	Het
C3	T	C	17: 57,519,643 (GRCm39)	E1203G	probably benign	Het
Carmil2	A	C	8: 106,416,843 (GRCm39)	Q476P	probably damaging	Het
Ccdc187	T	A	2: 26,166,458 (GRCm39)	T707S	probably damaging	Het
Cfap43	A	T	19: 47,735,086 (GRCm39)	V1435E	probably damaging	Het
Chrm3	A	T	13: 9,927,267 (GRCm39)	*590K	probably null	Het
Commd1	C	T	11: 22,928,503 (GRCm39)		probably benign	Het
Creb3l1	A	T	2: 91,821,274 (GRCm39)	Y314*	probably null	Het
Ctc1	T	A	11: 68,913,275 (GRCm39)	S90R	probably benign	Het
Dixdc1	T	C	9: 50,596,186 (GRCm39)	Q413R	probably benign	Het
Dlg5	T	C	14: 24,208,213 (GRCm39)	T998A	probably benign	Het
Dnai4	A	G	4: 102,917,113 (GRCm39)	I577T	possibly damaging	Het
Eif1ad14	C	T	12: 87,886,323 (GRCm39)	S102N	probably benign	Het
Fam89b	A	G	19: 5,778,903 (GRCm39)	S99P	possibly damaging	Het
Fbxo30	A	G	10: 11,166,479 (GRCm39)	I400M	probably benign	Het
Gad1	A	T	2: 70,431,057 (GRCm39)	M567L	probably benign	Het
Gemin5	T	C	11: 58,016,065 (GRCm39)	S1314G	probably benign	Het
Gm9195	T	G	14: 72,678,201 (GRCm39)	I2323L	probably benign	Het
Gria1	T	A	11: 57,133,877 (GRCm39)	F585L	probably damaging	Het
Hbs1l	A	T	10: 21,185,178 (GRCm39)	H200L	probably benign	Het
Igsf5	A	G	16: 96,222,996 (GRCm39)	Q360R	probably benign	Het
Il31ra	A	T	13: 112,660,717 (GRCm39)	V624E	probably damaging	Het
Iqsec3	T	C	6: 121,364,779 (GRCm39)	R837G	probably damaging	Het
Itprid2	T	C	2: 79,475,129 (GRCm39)	S363P	probably benign	Het
Lpl	A	G	8: 69,348,433 (GRCm39)	I221V	probably damaging	Het
Mink1	T	A	11: 70,501,154 (GRCm39)	D887E	possibly damaging	Het
Mmp10	T	G	9: 7,508,203 (GRCm39)	F443C	probably damaging	Het
Mmrn1	T	A	6: 60,965,361 (GRCm39)	Y1131N	probably damaging	Het
Mrc2	T	A	11: 105,223,137 (GRCm39)	V460E	probably damaging	Het
Nicn1	T	A	9: 108,170,572 (GRCm39)	F57Y	probably damaging	Het
Nlrp4b	A	G	7: 10,449,528 (GRCm39)	Y577C	probably damaging	Het
Nrap	T	C	19: 56,312,352 (GRCm39)	T1535A	probably damaging	Het
Opa1	G	A	16: 29,439,686 (GRCm39)	R755H	probably damaging	Het
Phldb2	A	G	16: 45,645,385 (GRCm39)	S354P	probably benign	Het
Phykpl	T	C	11: 51,489,121 (GRCm39)	S316P	probably damaging	Het
Pnpla1	T	A	17: 29,077,873 (GRCm39)	D11E	probably benign	Het
Prph	G	A	15: 98,954,657 (GRCm39)	R241Q	probably benign	Het
Rcl1	T	C	19: 29,093,159 (GRCm39)	I58T	possibly damaging	Het
Rps6ka2	A	G	17: 7,514,151 (GRCm39)	N117D	probably benign	Het
Sars1	G	A	3: 108,336,029 (GRCm39)	S331L	probably benign	Het
Scfd1	A	C	12: 51,459,374 (GRCm39)	K312Q	possibly damaging	Het
Senp5	A	G	16: 31,808,166 (GRCm39)	C363R	probably benign	Het
Senp7	A	G	16: 56,008,691 (GRCm39)	I1024V	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sptbn4	A	G	7: 27,103,663 (GRCm39)	L1191P	probably damaging	Het
Stk40	A	G	4: 126,022,766 (GRCm39)	E180G	probably damaging	Het
Stxbp5	A	T	10: 9,684,792 (GRCm39)	V536E	probably benign	Het
Tex15	G	T	8: 34,066,899 (GRCm39)	E2110*	probably null	Het
Thbs4	G	A	13: 92,927,325 (GRCm39)	P55S	probably benign	Het
Tmem115	T	C	9: 107,411,997 (GRCm39)	V107A	probably benign	Het
Tnfaip6	A	C	2: 51,945,879 (GRCm39)	I242L	probably benign	Het
Trabd	G	T	15: 88,969,616 (GRCm39)	A270S	possibly damaging	Het
Trim30d	T	A	7: 104,136,947 (GRCm39)	I86F	probably damaging	Het
Trpc7	A	G	13: 56,970,372 (GRCm39)	V404A	probably benign	Het
Vmn1r61	A	G	7: 5,613,886 (GRCm39)	Y143H	probably benign	Het
Vmn2r18	T	A	5: 151,485,373 (GRCm39)	D707V	probably damaging	Het
Vnn3	G	A	10: 23,745,443 (GRCm39)	R464H	probably benign	Het
Wdr27	T	C	17: 15,112,751 (GRCm39)	T652A	probably benign	Het
Yeats2	C	T	16: 20,041,637 (GRCm39)	R1176*	probably null	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
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
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'- ACCAGGTTGTGCTAGGAGACAG -3'
(R):5'- ATGTTTGGTGTCAAGGTCCC -3'

Sequencing Primer
(F):5'- AGGAGTCTCAGAGCTCACGTG -3'
(R):5'- TGGTGTCAAGGTCCCATTCCG -3'

Posted On

2020-09-02