Mutagenetix > Incidental Mutations

Incidental Mutation 'R5069:Polr2a'

388564

Institutional Source

Beutler Lab

Gene Symbol

Polr2a

Ensembl Gene

ENSMUSG00000005198

Gene Name

polymerase (RNA) II (DNA directed) polypeptide A

Synonyms

Rpo2-1, 220kDa

MMRRC Submission

042659-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69733997-69758637 bp(-) (GRCm38)

Type of Mutation

splice site (40 bp from exon)

DNA Base Change (assembly)

T to C at 69736735 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000071200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058470] [ENSMUST00000071213] [ENSMUST00000071213]

Predicted Effect

probably null
Transcript: ENSMUST00000058470

SMART Domains

Protein: ENSMUSP00000050771
Gene: ENSMUSG00000005198

Domain	Start	End	E-Value	Type
Blast:RPOLA_N	110	179	5e-37	BLAST
RPOLA_N	246	549	7.02e-203	SMART
Pfam:RNA_pol_Rpb1_4	716	823	3.6e-39	PFAM
Pfam:RNA_pol_Rpb1_5	830	1428	2e-101	PFAM
Pfam:RNA_pol_Rpb1_6	896	1079	1.7e-70	PFAM
Pfam:RNA_pol_Rpb1_7	1164	1299	1.7e-57	PFAM
Pfam:RNA_pol_Rpb1_R	1555	1568	2.1e-3	PFAM
Pfam:RNA_pol_Rpb1_R	1616	1629	8.8e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1630	1643	1.9e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1644	1657	2.3e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1658	1671	2.2e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1672	1685	2.4e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1686	1699	2.5e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1700	1713	2.5e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1714	1727	2.5e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1728	1741	2.6e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1742	1755	5.3e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1757	1769	5.8e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1784	1797	2.6e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1798	1811	4.8e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1826	1839	4.3e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1841	1853	2e-3	PFAM
Pfam:RNA_pol_Rpb1_R	1854	1867	6.9e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1868	1881	3.7e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1882	1895	1.2e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1896	1909	5e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1910	1923	2.5e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1924	1936	2e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1931	1954	2.6e-3	PFAM
Pfam:RNA_pol_Rpb1_R	1948	1960	2.5e-3	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000071213

SMART Domains

Protein: ENSMUSP00000071200
Gene: ENSMUSG00000005198

Domain	Start	End	E-Value	Type
Blast:RPOLA_N	110	179	5e-37	BLAST
RPOLA_N	246	549	7.02e-203	SMART
Pfam:RNA_pol_Rpb1_4	716	823	1.8e-41	PFAM
Pfam:RNA_pol_Rpb1_5	830	1428	4.8e-104	PFAM
Pfam:RNA_pol_Rpb1_6	896	1079	5.2e-74	PFAM
Pfam:RNA_pol_Rpb1_7	1164	1299	1.4e-55	PFAM
low complexity region	1503	1522	N/A	INTRINSIC
low complexity region	1524	1549	N/A	INTRINSIC
Pfam:RNA_pol_Rpb1_R	1578	1591	2.7e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1592	1605	2.5e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1606	1619	2.7e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1620	1633	2.5e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1634	1647	2.5e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1648	1661	2.4e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1662	1675	2.4e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1676	1689	2.6e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1690	1703	2.3e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1704	1717	5.2e-7	PFAM
Pfam:RNA_pol_Rpb1_R	1718	1731	5.5e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1732	1745	1.6e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1746	1759	8.6e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1760	1773	2e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1788	1801	3.3e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1802	1815	2.4e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1816	1829	8.3e-7	PFAM
Pfam:RNA_pol_Rpb1_R	1830	1843	2.2e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1844	1857	1.6e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1858	1871	2.8e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1872	1885	6e-7	PFAM
Pfam:RNA_pol_Rpb1_R	1886	1899	4.6e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1893	1909	4.8e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1903	1916	2.8e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1910	1923	1.6e-4	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000071213

SMART Domains

Protein: ENSMUSP00000071200
Gene: ENSMUSG00000005198

Domain	Start	End	E-Value	Type
Blast:RPOLA_N	110	179	5e-37	BLAST
RPOLA_N	246	549	7.02e-203	SMART
Pfam:RNA_pol_Rpb1_4	716	823	1.8e-41	PFAM
Pfam:RNA_pol_Rpb1_5	830	1428	4.8e-104	PFAM
Pfam:RNA_pol_Rpb1_6	896	1079	5.2e-74	PFAM
Pfam:RNA_pol_Rpb1_7	1164	1299	1.4e-55	PFAM
low complexity region	1503	1522	N/A	INTRINSIC
low complexity region	1524	1549	N/A	INTRINSIC
Pfam:RNA_pol_Rpb1_R	1578	1591	2.7e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1592	1605	2.5e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1606	1619	2.7e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1620	1633	2.5e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1634	1647	2.5e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1648	1661	2.4e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1662	1675	2.4e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1676	1689	2.6e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1690	1703	2.3e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1704	1717	5.2e-7	PFAM
Pfam:RNA_pol_Rpb1_R	1718	1731	5.5e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1732	1745	1.6e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1746	1759	8.6e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1760	1773	2e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1788	1801	3.3e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1802	1815	2.4e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1816	1829	8.3e-7	PFAM
Pfam:RNA_pol_Rpb1_R	1830	1843	2.2e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1844	1857	1.6e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1858	1871	2.8e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1872	1885	6e-7	PFAM
Pfam:RNA_pol_Rpb1_R	1886	1899	4.6e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1893	1909	4.8e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1903	1916	2.8e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1910	1923	1.6e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156588

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
9330182L06Rik	T	A	5: 9,440,897	C636S	probably damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
Adcy7	T	C	8: 88,327,697	L1060P	probably damaging	Het
Aff3	A	G	1: 38,181,613		probably null	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Ankrd27	A	T	7: 35,628,435	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,075,206	T90A	probably damaging	Het
Armc9	A	T	1: 86,257,237	H670L	probably benign	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Ass1	C	T	2: 31,510,173	T301M	probably damaging	Het
Baiap3	A	T	17: 25,249,108	C283S	probably damaging	Het
BC055324	T	C	1: 163,987,674	T93A	possibly damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,711,092	L354P	probably damaging	Het
Cdh3	A	G	8: 106,536,826	N126S	probably benign	Het
Cfap54	A	C	10: 92,937,774	F135L	probably benign	Het
Dlg1	G	T	16: 31,684,295		probably null	Het
Dnah3	T	C	7: 120,032,790	H1314R	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm1043	T	G	5: 37,187,236	L231R	probably damaging	Het
Gm13178	T	A	4: 144,703,867	D184V	probably damaging	Het
Gm14085	A	T	2: 122,494,373	N142I	possibly damaging	Het
Gm14685	T	C	X: 73,127,971	I323T	probably damaging	Het
Gpr153	T	A	4: 152,279,883	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,354,647	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,676,727		probably null	Het
Kat6a	G	A	8: 22,903,133	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,104,637	V178D	probably damaging	Het
Krt75	A	G	15: 101,566,238		probably null	Het
Letm2	G	A	8: 25,593,964	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Muc6	A	G	7: 141,651,299	C218R	probably damaging	Het
Myof	A	T	19: 37,905,325	I1130N	possibly damaging	Het
Neil3	A	G	8: 53,601,041	S318P	possibly damaging	Het
Nhlh1	A	G	1: 172,053,900	V133A	probably benign	Het
Nup153	A	C	13: 46,709,792	S331A	probably benign	Het
Nup98	T	C	7: 102,145,655	T882A	probably benign	Het
Olfr1413	T	A	1: 92,573,413	S81T	probably damaging	Het
Olfr599	A	T	7: 103,338,022		probably null	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pald1	A	T	10: 61,341,246	M675K	possibly damaging	Het
Pex5	A	G	6: 124,413,596	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,111,140	A897V	probably benign	Het
Plxnd1	A	T	6: 115,965,901	V1274E	probably damaging	Het
Ppfia1	G	A	7: 144,514,473	Q446*	probably null	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Rhbdl2	T	A	4: 123,817,917	L149*	probably null	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rtel1	G	A	2: 181,355,492	V1042M	probably benign	Het
Sidt2	A	T	9: 45,939,461		probably null	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc4a10	G	A	2: 62,267,571	R508H	probably benign	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Slf2	T	A	19: 44,935,253	S169T	possibly damaging	Het
Snx33	A	T	9: 56,926,191	I198N	probably damaging	Het
Spock3	A	G	8: 63,355,265	T396A	probably benign	Het
Sva	A	T	6: 42,038,417		probably benign	Het
Syt7	A	G	19: 10,439,237	N261S	probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Thoc2	C	T	X: 41,806,693	E1491K	probably damaging	Het
Tlr1	T	C	5: 64,926,400	Y278C	probably benign	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Trpm4	T	G	7: 45,310,469	Y667S	probably damaging	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,940,089	H709R	probably damaging	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wars2	A	G	3: 99,187,533	H48R	probably damaging	Het
Xlr4c	T	A	X: 73,238,684	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	Het

Other mutations in Polr2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Polr2a	APN	11	69743794	splice site	probably benign
IGL01067:Polr2a	APN	11	69748014	missense	possibly damaging	0.94
IGL01547:Polr2a	APN	11	69744942	missense	probably damaging	0.99
IGL01589:Polr2a	APN	11	69741194	missense	probably benign
IGL01955:Polr2a	APN	11	69741848	missense	probably damaging	1.00
IGL02457:Polr2a	APN	11	69743250	splice site	probably benign
IGL02526:Polr2a	APN	11	69739467	missense	probably benign	0.03
IGL02792:Polr2a	APN	11	69746112	missense	probably damaging	0.99
IGL03058:Polr2a	APN	11	69745047	splice site	probably null
IGL03083:Polr2a	APN	11	69745046	critical splice acceptor site	probably null
IGL03198:Polr2a	APN	11	69747281	splice site	probably null
IGL03201:Polr2a	APN	11	69745690	nonsense	probably null
Leastest	UTSW	11	69747292	splice site	probably null
PIT4260001:Polr2a	UTSW	11	69735967	missense	possibly damaging	0.93
R0126:Polr2a	UTSW	11	69747425	missense	probably damaging	0.99
R0254:Polr2a	UTSW	11	69743671	missense	possibly damaging	0.75
R0313:Polr2a	UTSW	11	69735080	missense	unknown
R0336:Polr2a	UTSW	11	69736893	missense	possibly damaging	0.92
R0453:Polr2a	UTSW	11	69741019	missense	possibly damaging	0.65
R0762:Polr2a	UTSW	11	69735117	missense	unknown
R1101:Polr2a	UTSW	11	69748071	missense	probably benign	0.23
R1509:Polr2a	UTSW	11	69747213	missense	possibly damaging	0.93
R1547:Polr2a	UTSW	11	69734555	missense	probably benign	0.39
R1567:Polr2a	UTSW	11	69746031	missense	probably benign	0.07
R1597:Polr2a	UTSW	11	69739929	missense	possibly damaging	0.88
R1614:Polr2a	UTSW	11	69743373	missense	possibly damaging	0.75
R1698:Polr2a	UTSW	11	69739877	critical splice donor site	probably null
R1735:Polr2a	UTSW	11	69742396	missense	probably damaging	0.99
R1743:Polr2a	UTSW	11	69739503	missense	probably damaging	0.96
R1899:Polr2a	UTSW	11	69743946	missense	probably damaging	0.99
R1900:Polr2a	UTSW	11	69743946	missense	probably damaging	0.99
R1931:Polr2a	UTSW	11	69735375	missense	unknown
R2217:Polr2a	UTSW	11	69742685	critical splice donor site	probably null
R2218:Polr2a	UTSW	11	69742685	critical splice donor site	probably null
R2245:Polr2a	UTSW	11	69735183	missense	unknown
R3123:Polr2a	UTSW	11	69735710	missense	possibly damaging	0.92
R3124:Polr2a	UTSW	11	69735710	missense	possibly damaging	0.92
R4018:Polr2a	UTSW	11	69735059	missense	unknown
R4025:Polr2a	UTSW	11	69743659	missense	possibly damaging	0.95
R4197:Polr2a	UTSW	11	69735336	missense	unknown
R4462:Polr2a	UTSW	11	69746403	missense	probably damaging	1.00
R4508:Polr2a	UTSW	11	69742559	critical splice acceptor site	probably null
R4746:Polr2a	UTSW	11	69735674	missense	probably benign	0.05
R5102:Polr2a	UTSW	11	69746945	missense	possibly damaging	0.93
R5195:Polr2a	UTSW	11	69744079	missense	probably damaging	1.00
R5234:Polr2a	UTSW	11	69736840	missense	probably benign	0.03
R5330:Polr2a	UTSW	11	69747275	missense	probably benign	0.01
R5331:Polr2a	UTSW	11	69747275	missense	probably benign	0.01
R5896:Polr2a	UTSW	11	69736260	missense	probably damaging	0.99
R5910:Polr2a	UTSW	11	69746870	missense	probably damaging	0.99
R6128:Polr2a	UTSW	11	69736977	missense	probably damaging	1.00
R6238:Polr2a	UTSW	11	69747221	missense	possibly damaging	0.95
R6244:Polr2a	UTSW	11	69744226	missense	probably damaging	1.00
R6303:Polr2a	UTSW	11	69746913	missense	probably damaging	1.00
R6338:Polr2a	UTSW	11	69739679	splice site	probably null
R6361:Polr2a	UTSW	11	69743337	missense	probably damaging	0.99
R6374:Polr2a	UTSW	11	69736932	missense	probably damaging	0.98
R6630:Polr2a	UTSW	11	69735513	missense	possibly damaging	0.93
R6631:Polr2a	UTSW	11	69735513	missense	possibly damaging	0.93
R6633:Polr2a	UTSW	11	69735513	missense	possibly damaging	0.93
R6897:Polr2a	UTSW	11	69735961	missense	probably benign	0.12
R6923:Polr2a	UTSW	11	69735961	missense	probably benign	0.12
R6933:Polr2a	UTSW	11	69736177	missense	probably damaging	0.99
R6933:Polr2a	UTSW	11	69739467	missense	probably benign	0.03
R6953:Polr2a	UTSW	11	69741711	missense	probably damaging	0.99
R6974:Polr2a	UTSW	11	69747200	missense	probably damaging	0.98
R7033:Polr2a	UTSW	11	69747213	missense	possibly damaging	0.93
R7085:Polr2a	UTSW	11	69743880	missense	probably damaging	0.99
R7112:Polr2a	UTSW	11	69735309	missense	unknown
R7124:Polr2a	UTSW	11	69737462	nonsense	probably null
R7307:Polr2a	UTSW	11	69747292	splice site	probably null
R7319:Polr2a	UTSW	11	69746370	missense	possibly damaging	0.95
R7350:Polr2a	UTSW	11	69741060	missense	possibly damaging	0.92
R7369:Polr2a	UTSW	11	69745977	missense	probably benign	0.01
R7585:Polr2a	UTSW	11	69740002	missense	probably damaging	0.99
R7882:Polr2a	UTSW	11	69736174	missense	possibly damaging	0.86
R7935:Polr2a	UTSW	11	69747504	missense	probably benign	0.00
R8080:Polr2a	UTSW	11	69735048	missense	unknown
R8140:Polr2a	UTSW	11	69746376	missense	probably benign	0.12
R8221:Polr2a	UTSW	11	69737518	missense	probably benign	0.24
R8245:Polr2a	UTSW	11	69739953	missense	probably damaging	0.99
R8274:Polr2a	UTSW	11	69748056	missense	probably damaging	0.99
R8275:Polr2a	UTSW	11	69748056	missense	probably damaging	0.99
R8276:Polr2a	UTSW	11	69748056	missense	probably damaging	0.99
R8277:Polr2a	UTSW	11	69748056	missense	probably damaging	0.99
R8311:Polr2a	UTSW	11	69737456	missense	probably null	0.20

Predicted Primers

PCR Primer
(F):5'- TCTTTCAATCTACTCAGGCATGG -3'
(R):5'- TGTCAATTATCGGCATTTGGC -3'

Sequencing Primer
(F):5'- TCAGGCATGGTTAATCCCAG -3'
(R):5'- GCGCTCCTGTGTGACACTATG -3'

Posted On

2016-06-06