Mutagenetix > Incidental Mutation

Incidental Mutation 'R8477:Polr2a'

657321

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

067921-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69624823-69649459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69626312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1613 (P1613S)

Ref Sequence

ENSEMBL: ENSMUSP00000050771 (fasta)

Gene Model

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

AlphaFold

P08775

Predicted Effect

probably benign
Transcript: ENSMUST00000058470
AA Change: P1613S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000050771
Gene: ENSMUSG00000005198
AA Change: P1613S

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

unknown
Transcript: ENSMUST00000071213
AA Change: P1575S

SMART Domains

Protein: ENSMUSP00000071200
Gene: ENSMUSG00000005198
AA Change: P1575S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,924,174 (GRCm39)	S94L	probably benign	Het
Ackr1	C	T	1: 173,159,755 (GRCm39)	G255R	probably damaging	Het
Aldh1l2	G	A	10: 83,337,785 (GRCm39)	T560I	probably damaging	Het
Arhgef25	A	T	10: 127,020,266 (GRCm39)	F384I	probably damaging	Het
Bptf	T	A	11: 106,943,679 (GRCm39)	Q2671L	probably damaging	Het
Ccdc159	A	G	9: 21,844,223 (GRCm39)	E95G	probably damaging	Het
Cenpf	A	T	1: 189,385,385 (GRCm39)	H2298Q	probably benign	Het
Chn2	G	T	6: 54,246,467 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,909,555 (GRCm39)	L224P	probably damaging	Het
Cyp2c54	T	A	19: 40,058,708 (GRCm39)	K241N	probably benign	Het
Cyp2c55	G	T	19: 38,999,485 (GRCm39)	V64L	probably damaging	Het
Dlgap1	A	C	17: 70,823,967 (GRCm39)	Q317H	probably damaging	Het
Dnaja3	A	G	16: 4,505,212 (GRCm39)	D108G	probably null	Het
Dpagt1	G	T	9: 44,243,390 (GRCm39)		probably null	Het
Dzip1	T	C	14: 119,138,958 (GRCm39)	R424G	possibly damaging	Het
Ero1b	A	G	13: 12,616,672 (GRCm39)	K367R	probably benign	Het
Evi2	T	C	11: 79,406,891 (GRCm39)	Y228C	probably benign	Het
Exosc10	A	T	4: 148,649,847 (GRCm39)	I426L	possibly damaging	Het
Gba2	C	T	4: 43,569,944 (GRCm39)	R423Q	probably damaging	Het
Gm19965	A	C	1: 116,730,854 (GRCm39)		probably benign	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gvin2	T	C	7: 105,548,133 (GRCm39)	K1640E	possibly damaging	Het
Hc	A	T	2: 34,879,182 (GRCm39)	C1557S	probably damaging	Het
Hfm1	C	T	5: 107,029,684 (GRCm39)	S799N	probably benign	Het
Hibadh	A	T	6: 52,617,185 (GRCm39)	W17R	probably benign	Het
Hivep1	A	T	13: 42,337,696 (GRCm39)	T2592S	probably benign	Het
Ighv8-5	G	A	12: 115,031,200 (GRCm39)	T113I	probably benign	Het
Il2rb	A	T	15: 78,370,006 (GRCm39)	V211D	probably damaging	Het
Itgal	A	G	7: 126,900,105 (GRCm39)	Y121C	probably damaging	Het
Kirrel1	T	C	3: 86,992,138 (GRCm39)	T597A	possibly damaging	Het
Lats1	A	G	10: 7,581,279 (GRCm39)	E688G	probably damaging	Het
Lbr	C	T	1: 181,644,539 (GRCm39)	A589T	possibly damaging	Het
Limch1	G	A	5: 67,131,908 (GRCm39)	V133I	probably benign	Het
Mast2	C	T	4: 116,164,407 (GRCm39)	A1670T	probably benign	Het
Mtcl1	A	T	17: 66,684,942 (GRCm39)	L949Q	probably benign	Het
Nlrp4a	T	C	7: 26,159,219 (GRCm39)	V833A	probably benign	Het
Or12k5	T	C	2: 36,895,060 (GRCm39)	T189A	probably benign	Het
Or8g28	A	T	9: 39,169,099 (GRCm39)	Y290N	probably damaging	Het
Osgep	C	A	14: 51,155,334 (GRCm39)	A75S	probably damaging	Het
Pank1	C	A	19: 34,856,055 (GRCm39)	R141L	probably benign	Het
Pcdhb20	T	A	18: 37,638,307 (GRCm39)	S278T	probably benign	Het
Pcdhgb8	C	A	18: 37,896,365 (GRCm39)	F478L	probably benign	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Pramel55	A	C	5: 95,949,567 (GRCm39)	M105L	probably benign	Het
Prom2	A	C	2: 127,381,124 (GRCm39)	S251A	probably benign	Het
R3hdm2	A	G	10: 127,320,029 (GRCm39)	H546R	probably damaging	Het
Reck	G	T	4: 43,891,011 (GRCm39)	V50L	probably benign	Het
Rerg	T	C	6: 137,033,184 (GRCm39)	T164A	probably benign	Het
Rho	T	A	6: 115,912,346 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,575,183 (GRCm39)	T959A	probably damaging	Het
Slc28a3	T	A	13: 58,724,609 (GRCm39)	N215I	possibly damaging	Het
Slc2a5	G	A	4: 150,210,119 (GRCm39)	V35I	probably benign	Het
Srpk2	A	T	5: 23,718,986 (GRCm39)	S610T	probably benign	Het
Tasor2	A	G	13: 3,625,079 (GRCm39)	F1624L	probably benign	Het
Tmem147	T	A	7: 30,427,656 (GRCm39)	M86L	probably benign	Het
Trhde	A	G	10: 114,636,622 (GRCm39)	V195A	probably benign	Het
Trio	T	C	15: 27,774,038 (GRCm39)	S112G	possibly damaging	Het
U2af2	T	C	7: 5,078,693 (GRCm39)	V424A	probably benign	Het
Vmn2r27	T	C	6: 124,201,200 (GRCm39)	I252M	probably benign	Het
Wasf2	A	G	4: 132,912,412 (GRCm39)	E88G	unknown	Het
Zfp37	A	G	4: 62,110,240 (GRCm39)	C275R	probably damaging	Het
Zfp532	A	T	18: 65,757,137 (GRCm39)	I357F	probably damaging	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
IGL02792:Polr2a	APN	11	69,636,938 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CTAGGAGATGTCGGTGAGTAGC -3'
(R):5'- ATACATCCCCTCACCAGGTG -3'

Sequencing Primer
(F):5'- TAGCTAGGTGATGTTGGAGAATAGC -3'
(R):5'- AGGTGAGCTGCTACACCATTTC -3'

Posted On

2021-01-18