Mutagenetix > Incidental Mutation

Incidental Mutation 'R8147:Pold2'

632872

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

067575-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8147 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

5822180-5828256 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5826842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 31 (T31A)

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: T31A

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

SMART Domains

Protein: ENSMUSP00000099986
Gene: ENSMUSG00000020471
AA Change: T31A

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 benign
Transcript: ENSMUST00000153995
AA Change: T31A

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

SMART Domains

Protein: ENSMUSP00000122906
Gene: ENSMUSG00000020471
AA Change: T31A

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

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.3%

Validation Efficiency

100% (55/55)

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
Adgrg7	T	C	16: 56,562,876 (GRCm39)	E487G	probably damaging	Het
Aldh9a1	T	A	1: 167,184,949 (GRCm39)	I287N	probably damaging	Het
Aox1	T	A	1: 58,339,821 (GRCm39)	N371K	probably benign	Het
Atr	T	A	9: 95,781,113 (GRCm39)	F1392L	probably damaging	Het
Bicra	G	A	7: 15,722,395 (GRCm39)	P374L	possibly damaging	Het
Cacna1b	C	T	2: 24,569,188 (GRCm39)	R912Q	probably damaging	Het
Cdhr1	T	C	14: 36,801,609 (GRCm39)	N778S	probably benign	Het
Cert1	C	T	13: 96,679,736 (GRCm39)	P22L	probably benign	Het
Dgat2	C	T	7: 98,806,187 (GRCm39)	V337I	possibly damaging	Het
Dlg5	T	C	14: 24,208,395 (GRCm39)	D937G	probably benign	Het
Dqx1	T	C	6: 83,037,222 (GRCm39)	V295A	probably benign	Het
Dsg3	A	G	18: 20,673,130 (GRCm39)	T934A	probably benign	Het
Fam81b	A	C	13: 76,383,140 (GRCm39)	V243G	probably damaging	Het
Gen1	A	T	12: 11,305,051 (GRCm39)		probably null	Het
Glrx3	G	A	7: 137,064,736 (GRCm39)	S275N	probably benign	Het
Igdcc4	A	T	9: 65,031,253 (GRCm39)	Q397L	probably benign	Het
Ints6	C	T	14: 62,951,186 (GRCm39)	G281D	probably damaging	Het
Kalrn	A	T	16: 33,875,414 (GRCm39)	S1722T	probably benign	Het
Lrrc4b	A	G	7: 44,111,829 (GRCm39)	D567G	probably damaging	Het
Macf1	A	G	4: 123,385,491 (GRCm39)	L1200S	probably damaging	Het
Mad1l1	G	A	5: 140,129,734 (GRCm39)	R434C	probably damaging	Het
Mia3	A	T	1: 183,109,062 (GRCm39)	F358I		Het
Ncapd3	C	T	9: 26,942,014 (GRCm39)		probably benign	Het
Nfkb2	A	G	19: 46,295,873 (GRCm39)	R156G	possibly damaging	Het
Nus1	T	C	10: 52,305,416 (GRCm39)		probably null	Het
Or2y14	C	T	11: 49,405,050 (GRCm39)	T195I	probably benign	Het
Or4a79	T	A	2: 89,552,186 (GRCm39)	I90F	probably damaging	Het
Or4c31	T	C	2: 88,292,427 (GRCm39)	F267L	possibly damaging	Het
Or5aq1b	T	A	2: 86,902,017 (GRCm39)	I154F	probably benign	Het
Pafah1b2	A	G	9: 45,895,147 (GRCm39)		probably null	Het
Ppp1r12b	T	C	1: 134,801,680 (GRCm39)	N512S	possibly damaging	Het
Prl8a8	A	T	13: 27,695,564 (GRCm39)	L23Q	probably damaging	Het
Ptprb	T	C	10: 116,153,283 (GRCm39)	V293A	probably damaging	Het
Rpl18a	G	T	8: 71,348,069 (GRCm39)	T174N	probably damaging	Het
Senp5	A	T	16: 31,808,128 (GRCm39)	H375Q	probably benign	Het
Setbp1	A	T	18: 78,900,015 (GRCm39)	F1217L	probably damaging	Het
Skint4	A	G	4: 111,993,218 (GRCm39)	I314V	probably benign	Het
Slc28a2	A	G	2: 122,288,682 (GRCm39)	D596G	probably benign	Het
Stat5b	A	G	11: 100,688,607 (GRCm39)	I285T	probably benign	Het
Sycp3	T	C	10: 88,298,467 (GRCm39)		probably null	Het
Sympk	T	C	7: 18,770,718 (GRCm39)	F270L	probably damaging	Het
Taar5	T	C	10: 23,846,749 (GRCm39)	V49A	probably damaging	Het
Tbx18	C	T	9: 87,606,411 (GRCm39)	V245I	probably damaging	Het
Tet1	A	G	10: 62,714,586 (GRCm39)	M403T	probably benign	Het
Tmprss11f	A	T	5: 86,677,769 (GRCm39)	F333L	probably damaging	Het
Tnpo3	T	C	6: 29,589,213 (GRCm39)	I46V	probably benign	Het
Traf5	G	T	1: 191,746,984 (GRCm39)	N112K	probably damaging	Het
Trim12c	A	T	7: 103,991,165 (GRCm39)	M263K	unknown	Het
Trim55	A	G	3: 19,727,011 (GRCm39)	I359M	probably benign	Het
Utp20	A	T	10: 88,594,306 (GRCm39)	W2140R	probably benign	Het
Vgll3	T	C	16: 65,624,964 (GRCm39)	V104A	probably damaging	Het
Vmn2r74	C	A	7: 85,605,227 (GRCm39)	G474*	probably null	Het
Vps18	G	A	2: 119,123,237 (GRCm39)	A98T	probably benign	Het
Zfand4	T	A	6: 116,291,169 (GRCm39)	S387T	probably damaging	Het
Zfp808	A	G	13: 62,320,934 (GRCm39)	Y721C	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
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
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'- AAGGTCCTAGTTCTAGCTGCTGG -3'
(R):5'- TGCACATTGTGGACAGCGTG -3'

Sequencing Primer
(F):5'- CTGCTGGGCTGCTGGGAG -3'
(R):5'- ACACTAGGGGAGCTTTGGGTAC -3'

Posted On

2020-06-30