Incidental Mutation 'R1743:Polr2a'
ID 200524
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 039775-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R1743 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69624823-69649459 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69630329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1246 (I1246T)
Ref Sequence ENSEMBL: ENSMUSP00000071200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058470] [ENSMUST00000071213]
AlphaFold P08775
Predicted Effect possibly damaging
Transcript: ENSMUST00000058470
AA Change: I1246T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050771
Gene: ENSMUSG00000005198
AA Change: I1246T

DomainStartEndE-ValueType
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: I1246T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071200
Gene: ENSMUSG00000005198
AA Change: I1246T

DomainStartEndE-ValueType
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: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T A 11: 53,259,522 (GRCm39) M11K possibly damaging Het
Ank2 T C 3: 126,722,324 (GRCm39) D88G probably damaging Het
Arhgap32 A G 9: 32,170,727 (GRCm39) E1169G probably benign Het
Atp7b A T 8: 22,496,403 (GRCm39) V865E probably damaging Het
Bcl2l13 T A 6: 120,825,504 (GRCm39) Y13* probably null Het
Birc6 A G 17: 74,886,751 (GRCm39) Q693R possibly damaging Het
Bub1 T C 2: 127,655,770 (GRCm39) D520G probably damaging Het
Ccdc15 A T 9: 37,188,773 (GRCm39) Y770* probably null Het
Cenpf T C 1: 189,386,460 (GRCm39) E1940G probably benign Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Cmya5 A G 13: 93,233,825 (GRCm39) V421A probably benign Het
Cnnm1 A T 19: 43,460,352 (GRCm39) Y698F possibly damaging Het
Cnst C T 1: 179,437,957 (GRCm39) T507I probably benign Het
Coq8a T C 1: 180,009,794 (GRCm39) M4V probably benign Het
Csmd3 A G 15: 48,485,485 (GRCm39) L140P probably damaging Het
Cul2 A T 18: 3,426,851 (GRCm39) I431F probably damaging Het
Dnah8 G T 17: 30,988,625 (GRCm39) E3198D probably benign Het
Dnai3 C A 3: 145,803,017 (GRCm39) R58L possibly damaging Het
Epn2 T A 11: 61,437,237 (GRCm39) I112F possibly damaging Het
Ext2 T C 2: 93,560,570 (GRCm39) E532G probably damaging Het
Fndc3a A T 14: 72,889,521 (GRCm39) V37E probably damaging Het
Gabbr2 A G 4: 46,677,603 (GRCm39) F759S possibly damaging Het
Ghr G A 15: 3,349,723 (GRCm39) P485L probably benign Het
Glipr1l2 G T 10: 111,928,470 (GRCm39) V122L probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gm6871 G T 7: 41,195,876 (GRCm39) T287K probably damaging Het
Gm7275 A G 16: 47,894,120 (GRCm39) noncoding transcript Het
Hephl1 C T 9: 15,001,364 (GRCm39) V254I probably damaging Het
Hnf4a C A 2: 163,408,259 (GRCm39) Q362K possibly damaging Het
Kcne3 C T 7: 99,833,631 (GRCm39) R83C probably damaging Het
Klb C A 5: 65,533,204 (GRCm39) N504K probably damaging Het
Loxl2 T A 14: 69,929,851 (GRCm39) I743N possibly damaging Het
Lrrc9 A T 12: 72,502,891 (GRCm39) L287F probably damaging Het
Mcm3ap C T 10: 76,320,508 (GRCm39) P822L possibly damaging Het
Nacc2 T C 2: 25,950,155 (GRCm39) N527S probably benign Het
Ncam1 G T 9: 49,468,445 (GRCm39) P338H probably damaging Het
Nfkbiz G T 16: 55,636,757 (GRCm39) Q515K possibly damaging Het
Nipsnap2 T C 5: 129,834,149 (GRCm39) L263P probably damaging Het
Nlrp1a A T 11: 71,015,032 (GRCm39) S73T probably benign Het
Nomo1 G A 7: 45,719,461 (GRCm39) probably null Het
Nos3 G A 5: 24,582,310 (GRCm39) G594D probably benign Het
Oprm1 A G 10: 6,780,105 (GRCm39) I256V probably damaging Het
Or10ak16 A G 4: 118,750,723 (GRCm39) T148A probably benign Het
Or10n1 A T 9: 39,524,916 (GRCm39) T18S possibly damaging Het
Or2b2 A G 13: 21,887,620 (GRCm39) I150V probably benign Het
Oxct2a A T 4: 123,217,309 (GRCm39) L24Q possibly damaging Het
Pcdhb14 T G 18: 37,581,231 (GRCm39) S112R probably benign Het
Ppil4 A T 10: 7,683,145 (GRCm39) K327N probably damaging Het
Pramel30 T C 4: 144,059,575 (GRCm39) S429P probably benign Het
Pstpip1 T C 9: 56,033,214 (GRCm39) Y249H probably damaging Het
Qrsl1 A T 10: 43,757,511 (GRCm39) V369E probably damaging Het
Ranbp10 G T 8: 106,506,610 (GRCm39) P237T probably damaging Het
Rapgef6 A G 11: 54,567,110 (GRCm39) N1097S probably damaging Het
Repin1 T A 6: 48,574,684 (GRCm39) S538T probably damaging Het
Rims2 A T 15: 39,543,046 (GRCm39) M1151L probably benign Het
Rin3 T A 12: 102,356,355 (GRCm39) D965E possibly damaging Het
Sdc2 A G 15: 33,028,224 (GRCm39) D114G probably benign Het
Slc25a30 C A 14: 76,012,523 (GRCm39) A42S probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Ssh2 T A 11: 77,328,582 (GRCm39) F383I probably damaging Het
St8sia1 A T 6: 142,774,742 (GRCm39) V279E probably damaging Het
Tacc2 C A 7: 130,228,328 (GRCm39) S1690* probably null Het
Taf1b A G 12: 24,597,177 (GRCm39) D372G possibly damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tmem165 G T 5: 76,355,673 (GRCm39) G272C probably damaging Het
Tsc22d2 TCAGTTAACACCTATGAACAGT TCAGT 3: 58,324,960 (GRCm39) probably null Het
Tssk4 C A 14: 55,888,488 (GRCm39) A119D probably damaging Het
Usp9y A G Y: 1,316,727 (GRCm39) Y1941H probably damaging Het
Vmn2r42 A T 7: 8,187,264 (GRCm39) M786K probably benign Het
Wdfy3 G T 5: 101,991,931 (GRCm39) T3470K probably benign Het
Zc3h14 T C 12: 98,745,448 (GRCm39) V479A probably benign Het
Zfp821 G A 8: 110,450,796 (GRCm39) R263Q probably damaging Het
Other mutations in Polr2a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GCAGATGCCACACACTGGTAATCAC -3'
(R):5'- GCTCTCCAACAGGTCCTTTTCAGG -3'

Sequencing Primer
(F):5'- CTGGTAATCACAGCATTACATCC -3'
(R):5'- ggctgttggaacccactg -3'
Posted On 2014-05-23