Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Polr2a'

514344

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

044492-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R6338 (G1)

Quality Score

104.008

Status

Not validated

Chromosome

Chromosomal Location

69624823-69649459 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 69630505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000071200 (fasta)

Gene Model

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

AlphaFold

P08775

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

noncoding transcript
Transcript: ENSMUST00000151586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156588

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 97,906,922 (GRCm39)	Y128C	probably damaging	Het
Adam30	T	G	3: 98,068,857 (GRCm39)	I102S	probably damaging	Het
Adcy8	A	T	15: 64,792,466 (GRCm39)	D163E	possibly damaging	Het
Agrn	C	T	4: 156,255,042 (GRCm39)	E1614K	probably benign	Het
Aldh16a1	A	T	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,687,490 (GRCm39)	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,664,070 (GRCm39)	S738G	probably benign	Het
Arid5b	C	A	10: 67,934,391 (GRCm39)	G504*	probably null	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,899,154 (GRCm39)	D186V	probably damaging	Het
Cdh23	T	C	10: 60,248,930 (GRCm39)	D882G	probably damaging	Het
Cdh4	T	C	2: 179,532,605 (GRCm39)	V689A	probably damaging	Het
Cntn6	T	A	6: 104,703,100 (GRCm39)	V174E	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Crybg1	T	C	10: 43,868,505 (GRCm39)	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,982,492 (GRCm39)	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,244,896 (GRCm39)	E55G	probably damaging	Het
Efcab3	C	T	11: 104,734,034 (GRCm39)	R2027*	probably null	Het
Fam13a	A	G	6: 58,930,484 (GRCm39)	V476A	probably damaging	Het
Fem1b	A	T	9: 62,704,293 (GRCm39)	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489 (GRCm39)	V466I	probably benign	Het
Gm20671	A	T	5: 32,977,991 (GRCm39)	D1794E	probably damaging	Het
Gpatch2	G	T	1: 186,957,711 (GRCm39)	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,465,880 (GRCm39)	T450A	probably benign	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Krit1	T	G	5: 3,886,857 (GRCm39)	M702R	probably benign	Het
Krt34	T	C	11: 99,929,316 (GRCm39)	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,612,376 (GRCm39)	N376K	possibly damaging	Het
Myo15a	A	G	11: 60,368,959 (GRCm39)	E573G	probably damaging	Het
Or11j4	T	A	14: 50,630,857 (GRCm39)	F215I	possibly damaging	Het
Or1af1	A	T	2: 37,109,834 (GRCm39)	D111V	probably damaging	Het
Or1e31	A	T	11: 73,690,145 (GRCm39)	L146Q	possibly damaging	Het
Or2y17	A	G	11: 49,231,694 (GRCm39)	S112G	probably benign	Het
Or4c119	T	A	2: 88,986,715 (GRCm39)	K268I	probably damaging	Het
Or56b2	T	A	7: 104,337,378 (GRCm39)	V52E	possibly damaging	Het
Phf20	A	T	2: 156,115,606 (GRCm39)	Q309L	possibly damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Pold3	A	G	7: 99,737,312 (GRCm39)	V342A	possibly damaging	Het
Ptprcap	A	G	19: 4,206,223 (GRCm39)	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,318,360 (GRCm39)	E843G	possibly damaging	Het
Rai14	T	C	15: 10,575,062 (GRCm39)	D632G	probably damaging	Het
Rnf149	A	T	1: 39,599,823 (GRCm39)	C268S	probably null	Het
Slc6a13	T	A	6: 121,311,798 (GRCm39)	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,338,492 (GRCm39)		probably null	Het
Slf1	T	A	13: 77,232,581 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,527,966 (GRCm39)	V1408I	probably benign	Het
Suclg1	T	C	6: 73,241,229 (GRCm39)	I183T	probably damaging	Het
Syne1	T	C	10: 5,205,475 (GRCm39)	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,706,361 (GRCm39)	R121*	probably null	Het
Tdpoz2	C	T	3: 93,559,643 (GRCm39)	V110I	probably benign	Het
Ubn2	A	G	6: 38,467,649 (GRCm39)	T788A	probably benign	Het
Unc13c	T	A	9: 73,641,729 (GRCm39)	I1255F	probably damaging	Het
Usp44	G	T	10: 93,682,375 (GRCm39)	R275I	probably damaging	Het
Uspl1	A	G	5: 149,151,844 (GRCm39)	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,724,849 (GRCm39)	D170E	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AGGACCAGCTTCTCTGCATTATC -3'
(R):5'- TGAGTAGACAGCCCACATGG -3'

Sequencing Primer
(F):5'- GCTTCTCTGCATTATCATCGTTGAAG -3'
(R):5'- GGATGTCCCACCTAGGTTTC -3'

Posted On

2018-04-27