Incidental Mutation 'R7350:Polr2a'
ID 570520
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 045436-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R7350 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 69624823-69649459 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69631886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1060 (L1060P)
Ref Sequence ENSEMBL: ENSMUSP00000050771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058470] [ENSMUST00000071213]
AlphaFold P08775
Predicted Effect possibly damaging
Transcript: ENSMUST00000058470
AA Change: L1060P

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050771
Gene: ENSMUSG00000005198
AA Change: L1060P

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: L1060P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071200
Gene: ENSMUSG00000005198
AA Change: L1060P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 T C 7: 132,476,578 (GRCm39) F106S probably damaging Het
Acsf3 A G 8: 123,512,685 (GRCm39) T369A probably benign Het
Adgrf5 G A 17: 43,739,335 (GRCm39) probably null Het
Aff1 T A 5: 103,994,958 (GRCm39) I1052K probably benign Het
Akap8 T C 17: 32,535,549 (GRCm39) D155G possibly damaging Het
Alg10b A T 15: 90,111,653 (GRCm39) M166L probably benign Het
Allc T A 12: 28,613,408 (GRCm39) Q178L possibly damaging Het
Angptl4 C A 17: 33,996,084 (GRCm39) L297F probably damaging Het
Arfgap1 A G 2: 180,612,869 (GRCm39) K8E possibly damaging Het
Bckdhb T A 9: 83,892,379 (GRCm39) V270E possibly damaging Het
Cbx3 T C 6: 51,452,355 (GRCm39) probably null Het
Cd44 G T 2: 102,664,607 (GRCm39) N531K probably benign Het
Cdh23 A T 10: 60,246,689 (GRCm39) D916E probably damaging Het
Cr2 A G 1: 194,837,594 (GRCm39) V792A probably benign Het
Cstf3 T C 2: 104,439,301 (GRCm39) L38P probably damaging Het
Cyp2a5 A G 7: 26,536,208 (GRCm39) E151G probably benign Het
Dbr1 T C 9: 99,464,602 (GRCm39) F127S Het
Ddit4 A T 10: 59,787,317 (GRCm39) D6E probably damaging Het
Disc1 G C 8: 125,891,841 (GRCm39) R631S probably damaging Het
Dnah5 T A 15: 28,235,965 (GRCm39) probably null Het
Dnah9 T C 11: 65,971,404 (GRCm39) K1595E probably damaging Het
Dnmbp T C 19: 43,889,944 (GRCm39) R608G probably damaging Het
Efcab5 G C 11: 77,028,387 (GRCm39) P315A probably benign Het
Eif4a2 A G 16: 22,932,012 (GRCm39) Y392C possibly damaging Het
F5 G T 1: 164,020,277 (GRCm39) K917N probably benign Het
Fig4 T C 10: 41,127,752 (GRCm39) M571V probably benign Het
Flot2 T A 11: 77,948,802 (GRCm39) I259N probably damaging Het
Gm8122 C A 14: 43,088,058 (GRCm39) probably null Het
Gpr152 T C 19: 4,192,963 (GRCm39) V168A possibly damaging Het
H1f0 G A 15: 78,913,103 (GRCm39) G61D probably damaging Het
Ihh T A 1: 74,987,492 (GRCm39) K183M probably damaging Het
Itga2 A G 13: 114,973,738 (GRCm39) L1116P probably damaging Het
Kcnj10 A G 1: 172,196,827 (GRCm39) T114A possibly damaging Het
Kcnk3 T G 5: 30,779,310 (GRCm39) L120R probably damaging Het
Krt14 C A 11: 100,095,926 (GRCm39) E211* probably null Het
Lars2 T C 9: 123,256,545 (GRCm39) L350P probably damaging Het
Lrba T C 3: 86,259,209 (GRCm39) I1408T probably damaging Het
Lrrc27 A G 7: 138,806,022 (GRCm39) E229G probably benign Het
Lrrc8e G T 8: 4,285,626 (GRCm39) R617L probably benign Het
M1ap A G 6: 82,958,930 (GRCm39) D187G probably benign Het
Marchf1 A T 8: 66,921,051 (GRCm39) K243* probably null Het
Med16 C T 10: 79,739,031 (GRCm39) V252M probably damaging Het
Micu3 T C 8: 40,801,999 (GRCm39) S189P probably benign Het
Mier2 C A 10: 79,376,132 (GRCm39) M264I unknown Het
Mindy4 A T 6: 55,278,010 (GRCm39) N618I probably damaging Het
Mmrn1 C T 6: 60,953,320 (GRCm39) Q534* probably null Het
Mroh9 C T 1: 162,903,858 (GRCm39) probably null Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Mta3 T A 17: 84,015,870 (GRCm39) I24N probably damaging Het
Mtmr4 A T 11: 87,491,476 (GRCm39) H147L probably damaging Het
Nfam1 T C 15: 82,894,640 (GRCm39) K155R probably benign Het
Nlrp6 A T 7: 140,501,191 (GRCm39) probably benign Het
Or1q1 T A 2: 36,886,873 (GRCm39) I17N possibly damaging Het
Or5d37 A T 2: 87,923,542 (GRCm39) F246Y probably benign Het
Or5w20 T C 2: 87,726,753 (GRCm39) probably benign Het
Or6d13 A G 6: 116,517,495 (GRCm39) E27G probably benign Het
Or9g4 A G 2: 85,505,189 (GRCm39) F102S Het
P4ha1 A G 10: 59,186,240 (GRCm39) R240G probably damaging Het
Pla2r1 G T 2: 60,288,723 (GRCm39) D636E probably benign Het
Prr35 A T 17: 26,165,685 (GRCm39) V534D probably damaging Het
Ptgdr2 C A 19: 10,918,319 (GRCm39) Q279K probably benign Het
Rab11fip2 T A 19: 59,925,853 (GRCm39) R121S probably benign Het
Rasa2 T C 9: 96,426,408 (GRCm39) S813G probably benign Het
Rassf5 T C 1: 131,106,273 (GRCm39) K411E possibly damaging Het
Reep4 T C 14: 70,783,987 (GRCm39) Y35H probably damaging Het
Ror1 A T 4: 100,283,140 (GRCm39) M402L probably benign Het
Slc32a1 A G 2: 158,456,326 (GRCm39) E327G probably damaging Het
Spen C T 4: 141,206,696 (GRCm39) E644K unknown Het
Tars3 C G 7: 65,308,672 (GRCm39) Q281E probably damaging Het
Tcl1 A G 12: 105,184,934 (GRCm39) I92T probably damaging Het
Tifab A G 13: 56,324,120 (GRCm39) S108P probably damaging Het
Traf1 T C 2: 34,838,245 (GRCm39) N198D probably benign Het
Trim35 T C 14: 66,546,654 (GRCm39) Y474H probably damaging Het
Trim54 T A 5: 31,294,505 (GRCm39) D344E probably benign Het
Ttc28 A T 5: 111,373,903 (GRCm39) H1113L probably damaging Het
Vcam1 T A 3: 115,908,211 (GRCm39) D617V probably damaging Het
Vmn2r81 A T 10: 79,104,219 (GRCm39) T281S probably benign Het
Whrn C T 4: 63,350,196 (GRCm39) R507K possibly damaging Het
Zdhhc14 A G 17: 5,777,151 (GRCm39) S303G probably benign Het
Zfp292 A T 4: 34,806,839 (GRCm39) N2073K probably benign Het
Zgpat T A 2: 181,022,228 (GRCm39) V163D 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
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
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'- TGGAATATGCTGAACACCCAG -3'
(R):5'- CTGCTATGGCTTGGTATAACCATC -3'

Sequencing Primer
(F):5'- CCATGTAGGTTCGAGGAATTGAACTC -3'
(R):5'- ATAACCATCTCTTTGCCTCTCCATGG -3'
Posted On 2019-09-13