Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02792:Polr2a'

359814

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr2a

Ensembl Gene

ENSMUSG00000005198

Gene Name

polymerase (RNA) II (DNA directed) polypeptide A

Synonyms

Rpo2-1, 220kDa

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

69624823-69649459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69636938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 338 (S338P)

Ref Sequence

ENSEMBL: ENSMUSP00000071200 (fasta)

Gene Model

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

AlphaFold

P08775

Predicted Effect

probably damaging
Transcript: ENSMUST00000058470
AA Change: S338P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050771
Gene: ENSMUSG00000005198
AA Change: S338P

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 damaging
Transcript: ENSMUST00000071213
AA Change: S338P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071200
Gene: ENSMUSG00000005198
AA Change: S338P

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

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,401,107 (GRCm39)	V131M	probably benign	Het
Abca6	A	T	11: 110,079,507 (GRCm39)	C1216S	probably damaging	Het
Acly	T	C	11: 100,369,236 (GRCm39)	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,282,163 (GRCm39)		probably null	Het
Adgrb1	C	A	15: 74,419,471 (GRCm39)	L771I	probably damaging	Het
Adh7	A	T	3: 137,929,498 (GRCm39)	K89I	probably damaging	Het
Adora2b	A	T	11: 62,156,309 (GRCm39)	I253F	possibly damaging	Het
Akna	G	A	4: 63,295,943 (GRCm39)	P975S	possibly damaging	Het
Alg9	T	C	9: 50,754,048 (GRCm39)	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,761,218 (GRCm39)	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,563,058 (GRCm39)	S908T	probably benign	Het
Atp1a4	C	T	1: 172,054,866 (GRCm39)		probably null	Het
Cabin1	T	C	10: 75,582,573 (GRCm39)	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,265,995 (GRCm39)	F1312L	probably benign	Het
Cfap65	A	C	1: 74,966,337 (GRCm39)	F330C	probably damaging	Het
Col27a1	C	T	4: 63,233,820 (GRCm39)	P689S	unknown	Het
Col4a3	A	T	1: 82,696,524 (GRCm39)	K1643N	probably damaging	Het
Dop1b	T	A	16: 93,598,460 (GRCm39)	V1875D	possibly damaging	Het
Eftud2	A	G	11: 102,761,082 (GRCm39)		probably benign	Het
Ergic3	C	A	2: 155,859,770 (GRCm39)	T357K	probably damaging	Het
Glra1	A	T	11: 55,427,226 (GRCm39)	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,001,018 (GRCm39)	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,236,602 (GRCm39)	S382P	probably damaging	Het
Kat6a	G	A	8: 23,428,316 (GRCm39)	E1224K	probably damaging	Het
Klk13	A	G	7: 43,370,838 (GRCm39)	E29G	possibly damaging	Het
Klra9	T	C	6: 130,165,643 (GRCm39)	D124G	probably benign	Het
Lrmda	T	C	14: 22,069,978 (GRCm39)		probably null	Het
Ltbp1	G	A	17: 75,589,989 (GRCm39)	V539M	probably damaging	Het
Ngfr	A	C	11: 95,462,687 (GRCm39)	L317R	probably damaging	Het
Nlrp6	C	A	7: 140,502,348 (GRCm39)	H151Q	probably damaging	Het
Nnt	A	G	13: 119,494,182 (GRCm39)	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,686,535 (GRCm39)	V158M	probably damaging	Het
Or11i1	T	C	3: 106,729,456 (GRCm39)	T140A	probably damaging	Het
Or2d36	T	C	7: 106,747,425 (GRCm39)	F301L	probably benign	Het
Or7g16	C	T	9: 18,727,254 (GRCm39)	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,133,850 (GRCm39)	Y517C	probably damaging	Het
Poc1a	A	T	9: 106,172,393 (GRCm39)	I207F	possibly damaging	Het
Ptprz1	T	C	6: 22,959,722 (GRCm39)	V73A	probably damaging	Het
Relb	A	T	7: 19,347,789 (GRCm39)	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,383,018 (GRCm39)	L382*	probably null	Het
Setd1a	C	T	7: 127,390,522 (GRCm39)	S523F	unknown	Het
Slamf8	A	G	1: 172,415,697 (GRCm39)	I47T	probably damaging	Het
Slc16a4	G	A	3: 107,206,193 (GRCm39)	A88T	probably benign	Het
Sox6	C	T	7: 115,140,884 (GRCm39)	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,512,165 (GRCm39)	Y489F	probably benign	Het
Tdrd6	T	G	17: 43,935,918 (GRCm39)	D1710A	probably benign	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Vangl1	A	T	3: 102,070,739 (GRCm39)	I399N	probably damaging	Het
Vmn1r201	T	C	13: 22,659,014 (GRCm39)	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,414,228 (GRCm39)	M1V	probably null	Het
Wdfy4	T	C	14: 32,817,262 (GRCm39)	I1561V	probably benign	Het
Xkr9	A	G	1: 13,771,027 (GRCm39)	D181G	probably damaging	Het
Zfp318	T	C	17: 46,720,104 (GRCm39)	F1101L	probably damaging	Het
Zfpm2	C	A	15: 40,966,409 (GRCm39)	Q833K	probably benign	Het

Other mutations in Polr2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Polr2a	APN	11	69,634,620 (GRCm39)	splice site	probably benign
IGL01067:Polr2a	APN	11	69,638,840 (GRCm39)	missense	possibly damaging	0.94
IGL01547:Polr2a	APN	11	69,635,768 (GRCm39)	missense	probably damaging	0.99
IGL01589:Polr2a	APN	11	69,632,020 (GRCm39)	missense	probably benign
IGL01955:Polr2a	APN	11	69,632,674 (GRCm39)	missense	probably damaging	1.00
IGL02457:Polr2a	APN	11	69,634,076 (GRCm39)	splice site	probably benign
IGL02526:Polr2a	APN	11	69,630,293 (GRCm39)	missense	probably benign	0.03
IGL03058:Polr2a	APN	11	69,635,873 (GRCm39)	splice site	probably null
IGL03083:Polr2a	APN	11	69,635,872 (GRCm39)	critical splice acceptor site	probably null
IGL03198:Polr2a	APN	11	69,638,107 (GRCm39)	splice site	probably null
IGL03201:Polr2a	APN	11	69,636,516 (GRCm39)	nonsense	probably null
Leastest	UTSW	11	69,638,118 (GRCm39)	splice site	probably null
PIT4260001:Polr2a	UTSW	11	69,626,793 (GRCm39)	missense	possibly damaging	0.93
R0126:Polr2a	UTSW	11	69,638,251 (GRCm39)	missense	probably damaging	0.99
R0254:Polr2a	UTSW	11	69,634,497 (GRCm39)	missense	possibly damaging	0.75
R0313:Polr2a	UTSW	11	69,625,906 (GRCm39)	missense	unknown
R0336:Polr2a	UTSW	11	69,627,719 (GRCm39)	missense	possibly damaging	0.92
R0453:Polr2a	UTSW	11	69,631,845 (GRCm39)	missense	possibly damaging	0.65
R0762:Polr2a	UTSW	11	69,625,943 (GRCm39)	missense	unknown
R1101:Polr2a	UTSW	11	69,638,897 (GRCm39)	missense	probably benign	0.23
R1509:Polr2a	UTSW	11	69,638,039 (GRCm39)	missense	possibly damaging	0.93
R1547:Polr2a	UTSW	11	69,625,381 (GRCm39)	missense	probably benign	0.39
R1567:Polr2a	UTSW	11	69,636,857 (GRCm39)	missense	probably benign	0.07
R1597:Polr2a	UTSW	11	69,630,755 (GRCm39)	missense	possibly damaging	0.88
R1614:Polr2a	UTSW	11	69,634,199 (GRCm39)	missense	possibly damaging	0.75
R1698:Polr2a	UTSW	11	69,630,703 (GRCm39)	critical splice donor site	probably null
R1735:Polr2a	UTSW	11	69,633,222 (GRCm39)	missense	probably damaging	0.99
R1743:Polr2a	UTSW	11	69,630,329 (GRCm39)	missense	probably damaging	0.96
R1899:Polr2a	UTSW	11	69,634,772 (GRCm39)	missense	probably damaging	0.99
R1900:Polr2a	UTSW	11	69,634,772 (GRCm39)	missense	probably damaging	0.99
R1931:Polr2a	UTSW	11	69,626,201 (GRCm39)	missense	unknown
R2217:Polr2a	UTSW	11	69,633,511 (GRCm39)	critical splice donor site	probably null
R2218:Polr2a	UTSW	11	69,633,511 (GRCm39)	critical splice donor site	probably null
R2245:Polr2a	UTSW	11	69,626,009 (GRCm39)	missense	unknown
R3123:Polr2a	UTSW	11	69,626,536 (GRCm39)	missense	possibly damaging	0.92
R3124:Polr2a	UTSW	11	69,626,536 (GRCm39)	missense	possibly damaging	0.92
R4018:Polr2a	UTSW	11	69,625,885 (GRCm39)	missense	unknown
R4025:Polr2a	UTSW	11	69,634,485 (GRCm39)	missense	possibly damaging	0.95
R4197:Polr2a	UTSW	11	69,626,162 (GRCm39)	missense	unknown
R4462:Polr2a	UTSW	11	69,637,229 (GRCm39)	missense	probably damaging	1.00
R4508:Polr2a	UTSW	11	69,633,385 (GRCm39)	critical splice acceptor site	probably null
R4746:Polr2a	UTSW	11	69,626,500 (GRCm39)	missense	probably benign	0.05
R5069:Polr2a	UTSW	11	69,627,561 (GRCm39)	splice site	probably null
R5102:Polr2a	UTSW	11	69,637,771 (GRCm39)	missense	possibly damaging	0.93
R5195:Polr2a	UTSW	11	69,634,905 (GRCm39)	missense	probably damaging	1.00
R5234:Polr2a	UTSW	11	69,627,666 (GRCm39)	missense	probably benign	0.03
R5330:Polr2a	UTSW	11	69,638,101 (GRCm39)	missense	probably benign	0.01
R5331:Polr2a	UTSW	11	69,638,101 (GRCm39)	missense	probably benign	0.01
R5896:Polr2a	UTSW	11	69,627,086 (GRCm39)	missense	probably damaging	0.99
R5910:Polr2a	UTSW	11	69,637,696 (GRCm39)	missense	probably damaging	0.99
R6128:Polr2a	UTSW	11	69,627,803 (GRCm39)	missense	probably damaging	1.00
R6238:Polr2a	UTSW	11	69,638,047 (GRCm39)	missense	possibly damaging	0.95
R6244:Polr2a	UTSW	11	69,635,052 (GRCm39)	missense	probably damaging	1.00
R6303:Polr2a	UTSW	11	69,637,739 (GRCm39)	missense	probably damaging	1.00
R6338:Polr2a	UTSW	11	69,630,505 (GRCm39)	splice site	probably null
R6361:Polr2a	UTSW	11	69,634,163 (GRCm39)	missense	probably damaging	0.99
R6374:Polr2a	UTSW	11	69,627,758 (GRCm39)	missense	probably damaging	0.98
R6630:Polr2a	UTSW	11	69,626,339 (GRCm39)	missense	possibly damaging	0.93
R6631:Polr2a	UTSW	11	69,626,339 (GRCm39)	missense	possibly damaging	0.93
R6633:Polr2a	UTSW	11	69,626,339 (GRCm39)	missense	possibly damaging	0.93
R6897:Polr2a	UTSW	11	69,626,787 (GRCm39)	missense	probably benign	0.12
R6923:Polr2a	UTSW	11	69,626,787 (GRCm39)	missense	probably benign	0.12
R6933:Polr2a	UTSW	11	69,630,293 (GRCm39)	missense	probably benign	0.03
R6933:Polr2a	UTSW	11	69,627,003 (GRCm39)	missense	probably damaging	0.99
R6953:Polr2a	UTSW	11	69,632,537 (GRCm39)	missense	probably damaging	0.99
R6974:Polr2a	UTSW	11	69,638,026 (GRCm39)	missense	probably damaging	0.98
R7033:Polr2a	UTSW	11	69,638,039 (GRCm39)	missense	possibly damaging	0.93
R7085:Polr2a	UTSW	11	69,634,706 (GRCm39)	missense	probably damaging	0.99
R7112:Polr2a	UTSW	11	69,626,135 (GRCm39)	missense	unknown
R7124:Polr2a	UTSW	11	69,628,288 (GRCm39)	nonsense	probably null
R7307:Polr2a	UTSW	11	69,638,118 (GRCm39)	splice site	probably null
R7319:Polr2a	UTSW	11	69,637,196 (GRCm39)	missense	possibly damaging	0.95
R7350:Polr2a	UTSW	11	69,631,886 (GRCm39)	missense	possibly damaging	0.92
R7369:Polr2a	UTSW	11	69,636,803 (GRCm39)	missense	probably benign	0.01
R7585:Polr2a	UTSW	11	69,630,828 (GRCm39)	missense	probably damaging	0.99
R7882:Polr2a	UTSW	11	69,627,000 (GRCm39)	missense	possibly damaging	0.86
R7935:Polr2a	UTSW	11	69,638,330 (GRCm39)	missense	probably benign	0.00
R8080:Polr2a	UTSW	11	69,625,874 (GRCm39)	missense	unknown
R8140:Polr2a	UTSW	11	69,637,202 (GRCm39)	missense	probably benign	0.12
R8221:Polr2a	UTSW	11	69,628,344 (GRCm39)	missense	probably benign	0.24
R8245:Polr2a	UTSW	11	69,630,779 (GRCm39)	missense	probably damaging	0.99
R8274:Polr2a	UTSW	11	69,638,882 (GRCm39)	missense	probably damaging	0.99
R8275:Polr2a	UTSW	11	69,638,882 (GRCm39)	missense	probably damaging	0.99
R8276:Polr2a	UTSW	11	69,638,882 (GRCm39)	missense	probably damaging	0.99
R8277:Polr2a	UTSW	11	69,638,882 (GRCm39)	missense	probably damaging	0.99
R8311:Polr2a	UTSW	11	69,628,282 (GRCm39)	missense	probably null	0.20
R8477:Polr2a	UTSW	11	69,626,312 (GRCm39)	missense	probably benign	0.00
R8677:Polr2a	UTSW	11	69,626,381 (GRCm39)	missense	possibly damaging	0.85
R8976:Polr2a	UTSW	11	69,638,037 (GRCm39)	missense	possibly damaging	0.92
R9296:Polr2a	UTSW	11	69,625,562 (GRCm39)	missense	probably benign	0.39
R9659:Polr2a	UTSW	11	69,625,654 (GRCm39)	missense	unknown
R9731:Polr2a	UTSW	11	69,638,043 (GRCm39)	missense	possibly damaging	0.88

Posted On

2015-12-18