Incidental Mutation 'R2071:Polr1a'
ID 227133
Institutional Source Beutler Lab
Gene Symbol Polr1a
Ensembl Gene ENSMUSG00000049553
Gene Name polymerase (RNA) I polypeptide A
Synonyms 2900087K15Rik, 3010014K16Rik, 194kDa, mRPA1, Rpo1-4, RPA194
MMRRC Submission 040076-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2071 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 71886037-71956419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71953058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 567 (V567E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055296]
AlphaFold O35134
Predicted Effect probably benign
Transcript: ENSMUST00000055296
AA Change: V1542E

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: V1542E

DomainStartEndE-ValueType
RPOLA_N 302 649 8.97e-137 SMART
Pfam:RNA_pol_Rpb1_4 846 958 1.3e-26 PFAM
Pfam:RNA_pol_Rpb1_5 965 1669 7e-103 PFAM
low complexity region 1698 1708 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000205517
AA Change: V567E

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]
Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik T A 1: 57,422,474 (GRCm39) H283Q probably damaging Het
2810021J22Rik A G 11: 58,767,595 (GRCm39) K31E probably damaging Het
Abcc10 G C 17: 46,614,491 (GRCm39) N1477K probably benign Het
Adam33 T C 2: 130,897,266 (GRCm39) T310A probably benign Het
Afm A G 5: 90,671,594 (GRCm39) D92G probably benign Het
Arg1 C T 10: 24,798,561 (GRCm39) A30T probably benign Het
Ash1l C G 3: 88,873,510 (GRCm39) P98A probably damaging Het
Atad5 A T 11: 79,988,878 (GRCm39) probably null Het
Atg2a T C 19: 6,307,488 (GRCm39) V1474A probably benign Het
Atp12a A G 14: 56,603,466 (GRCm39) K24E probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
B3gnt4 A T 5: 123,649,433 (GRCm39) H266L probably benign Het
Bora T C 14: 99,299,714 (GRCm39) S229P probably damaging Het
Ccn1 C T 3: 145,354,428 (GRCm39) W161* probably null Het
Cdsn A T 17: 35,865,591 (GRCm39) D40V probably damaging Het
Cep295 T C 9: 15,252,860 (GRCm39) R323G probably damaging Het
Chek2 T C 5: 110,989,112 (GRCm39) probably benign Het
Chga A T 12: 102,529,122 (GRCm39) K366N probably damaging Het
Chrm5 T C 2: 112,309,572 (GRCm39) K515E probably null Het
Cmtr1 A G 17: 29,913,757 (GRCm39) probably null Het
Dsg3 T C 18: 20,669,882 (GRCm39) L632S probably damaging Het
Eif1ad8 T A 12: 87,563,822 (GRCm39) F52L probably benign Het
Fzd3 A G 14: 65,473,012 (GRCm39) F252S probably damaging Het
Gas2l2 T C 11: 83,312,775 (GRCm39) K846E probably benign Het
Gpatch11 T C 17: 79,148,514 (GRCm39) probably null Het
Gucy2g T A 19: 55,210,772 (GRCm39) Y661F possibly damaging Het
Hhip A G 8: 80,783,931 (GRCm39) F72L probably benign Het
Kat14 T C 2: 144,231,136 (GRCm39) L181P probably damaging Het
Kifc3 A T 8: 95,834,981 (GRCm39) probably null Het
Kntc1 G T 5: 123,932,340 (GRCm39) probably null Het
Man2b1 G T 8: 85,812,013 (GRCm39) V156L possibly damaging Het
Mast1 T C 8: 85,647,823 (GRCm39) D517G probably damaging Het
Mc1r T C 8: 124,135,108 (GRCm39) L287P possibly damaging Het
Mctp1 A T 13: 76,907,843 (GRCm39) E238V probably damaging Het
Mmp12 T A 9: 7,349,725 (GRCm39) I52N probably damaging Het
Morc1 C T 16: 48,412,974 (GRCm39) T705I probably benign Het
Mrpl24 T C 3: 87,830,374 (GRCm39) probably null Het
Nap1l1 C T 10: 111,328,761 (GRCm39) T230I possibly damaging Het
Niban1 T C 1: 151,512,181 (GRCm39) F28L probably damaging Het
Nmral1 T A 16: 4,534,211 (GRCm39) I77F probably damaging Het
Nudt13 T A 14: 20,354,045 (GRCm39) D36E probably damaging Het
Oxsm A G 14: 16,241,983 (GRCm38) L262P probably benign Het
Pde10a A T 17: 9,180,827 (GRCm39) I754F probably benign Het
Pdzph1 T C 17: 59,281,092 (GRCm39) R397G probably benign Het
Pgap6 T C 17: 26,341,017 (GRCm39) Y176H probably damaging Het
Pou3f2 A G 4: 22,488,076 (GRCm39) V19A probably benign Het
Pramel34 T G 5: 93,784,375 (GRCm39) Q363P probably damaging Het
Pth1r A G 9: 110,556,081 (GRCm39) I264T probably benign Het
Ptprn C A 1: 75,231,788 (GRCm39) G504C probably damaging Het
Rbak A G 5: 143,162,339 (GRCm39) L8P probably damaging Het
Rev3l T A 10: 39,700,349 (GRCm39) D1615E probably benign Het
Rhob A G 12: 8,549,232 (GRCm39) M134T probably benign Het
Slc10a4 T C 5: 73,164,840 (GRCm39) L144P probably damaging Het
Slc45a3 T C 1: 131,905,370 (GRCm39) L131P probably damaging Het
Slf1 T A 13: 77,252,743 (GRCm39) E259D probably benign Het
Slitrk5 A G 14: 111,917,621 (GRCm39) Y415C probably damaging Het
Sohlh2 A G 3: 55,115,043 (GRCm39) I343V probably benign Het
Sorl1 T C 9: 41,890,753 (GRCm39) D1922G possibly damaging Het
Spats2l T A 1: 57,979,623 (GRCm39) I243N possibly damaging Het
Specc1 A C 11: 62,008,701 (GRCm39) K152N probably damaging Het
Sv2a G A 3: 96,101,191 (GRCm39) A730T possibly damaging Het
Tars2 C A 3: 95,654,950 (GRCm39) G113C probably damaging Het
Tcstv2b A T 13: 120,373,836 (GRCm39) D151E probably benign Het
Tep1 T C 14: 51,091,739 (GRCm39) K601E probably benign Het
Trp53 A G 11: 69,480,458 (GRCm39) D278G probably damaging Het
Ttc39d G A 17: 80,524,030 (GRCm39) G230R probably damaging Het
Tubb2b T A 13: 34,312,244 (GRCm39) Y183F probably damaging Het
Ubxn7 T A 16: 32,191,287 (GRCm39) C160S possibly damaging Het
Vcp A G 4: 42,995,894 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,658,995 (GRCm39) F70L probably benign Het
Vmn1r49 C T 6: 90,049,184 (GRCm39) V273I probably benign Het
Vmn2r103 A T 17: 20,014,056 (GRCm39) I283L probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfp408 A G 2: 91,476,363 (GRCm39) F364L probably damaging Het
Zfyve26 A G 12: 79,334,220 (GRCm39) L266P possibly damaging Het
Other mutations in Polr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Polr1a APN 6 71,925,470 (GRCm39) missense probably benign 0.32
IGL01834:Polr1a APN 6 71,925,446 (GRCm39) missense probably benign
IGL01902:Polr1a APN 6 71,940,732 (GRCm39) missense probably damaging 1.00
IGL02101:Polr1a APN 6 71,927,786 (GRCm39) missense probably benign 0.00
IGL02325:Polr1a APN 6 71,897,641 (GRCm39) missense probably benign 0.38
IGL02398:Polr1a APN 6 71,913,540 (GRCm39) splice site probably benign
IGL02528:Polr1a APN 6 71,941,701 (GRCm39) missense probably benign
IGL02555:Polr1a APN 6 71,897,441 (GRCm39) missense probably damaging 0.98
IGL02613:Polr1a APN 6 71,944,304 (GRCm39) missense probably damaging 1.00
IGL02693:Polr1a APN 6 71,940,830 (GRCm39) splice site probably benign
IGL02892:Polr1a APN 6 71,908,680 (GRCm39) missense possibly damaging 0.70
IGL03059:Polr1a APN 6 71,913,496 (GRCm39) missense probably benign
IGL03174:Polr1a APN 6 71,954,331 (GRCm39) missense possibly damaging 0.82
D4043:Polr1a UTSW 6 71,918,401 (GRCm39) missense possibly damaging 0.92
R0092:Polr1a UTSW 6 71,944,439 (GRCm39) splice site probably benign
R0217:Polr1a UTSW 6 71,940,687 (GRCm39) missense probably benign 0.19
R0267:Polr1a UTSW 6 71,951,123 (GRCm39) missense probably damaging 0.99
R0329:Polr1a UTSW 6 71,943,400 (GRCm39) missense possibly damaging 0.96
R0330:Polr1a UTSW 6 71,943,400 (GRCm39) missense possibly damaging 0.96
R0352:Polr1a UTSW 6 71,897,747 (GRCm39) splice site probably benign
R0411:Polr1a UTSW 6 71,955,405 (GRCm39) missense possibly damaging 0.95
R0446:Polr1a UTSW 6 71,927,648 (GRCm39) critical splice donor site probably null
R0846:Polr1a UTSW 6 71,901,627 (GRCm39) missense probably damaging 1.00
R1035:Polr1a UTSW 6 71,944,900 (GRCm39) missense probably benign
R1294:Polr1a UTSW 6 71,889,886 (GRCm39) missense probably damaging 0.99
R1460:Polr1a UTSW 6 71,918,368 (GRCm39) missense probably damaging 0.99
R1657:Polr1a UTSW 6 71,918,519 (GRCm39) missense probably damaging 1.00
R1846:Polr1a UTSW 6 71,953,172 (GRCm39) missense probably damaging 0.98
R1862:Polr1a UTSW 6 71,886,187 (GRCm39) missense probably damaging 0.96
R1865:Polr1a UTSW 6 71,943,508 (GRCm39) missense probably damaging 1.00
R1903:Polr1a UTSW 6 71,944,898 (GRCm39) missense probably benign 0.02
R1937:Polr1a UTSW 6 71,913,536 (GRCm39) critical splice donor site probably null
R2063:Polr1a UTSW 6 71,913,269 (GRCm39) splice site probably null
R2084:Polr1a UTSW 6 71,927,793 (GRCm39) missense possibly damaging 0.69
R2377:Polr1a UTSW 6 71,949,810 (GRCm39) critical splice donor site probably null
R2410:Polr1a UTSW 6 71,951,866 (GRCm39) missense probably benign
R3001:Polr1a UTSW 6 71,890,000 (GRCm39) missense probably benign 0.01
R3001:Polr1a UTSW 6 71,942,628 (GRCm39) missense probably benign 0.02
R3002:Polr1a UTSW 6 71,942,628 (GRCm39) missense probably benign 0.02
R3002:Polr1a UTSW 6 71,890,000 (GRCm39) missense probably benign 0.01
R3924:Polr1a UTSW 6 71,906,434 (GRCm39) missense probably benign 0.00
R4105:Polr1a UTSW 6 71,953,175 (GRCm39) missense probably damaging 0.98
R4125:Polr1a UTSW 6 71,942,690 (GRCm39) missense probably benign 0.00
R4271:Polr1a UTSW 6 71,930,006 (GRCm39) missense probably benign 0.02
R4440:Polr1a UTSW 6 71,927,832 (GRCm39) missense probably damaging 0.98
R4667:Polr1a UTSW 6 71,894,805 (GRCm39) missense probably benign 0.30
R4769:Polr1a UTSW 6 71,927,852 (GRCm39) missense probably benign 0.01
R4801:Polr1a UTSW 6 71,953,054 (GRCm39) missense probably benign 0.00
R4802:Polr1a UTSW 6 71,953,054 (GRCm39) missense probably benign 0.00
R4828:Polr1a UTSW 6 71,943,385 (GRCm39) missense possibly damaging 0.93
R4911:Polr1a UTSW 6 71,886,213 (GRCm39) missense possibly damaging 0.67
R5071:Polr1a UTSW 6 71,908,693 (GRCm39) missense possibly damaging 0.71
R5165:Polr1a UTSW 6 71,944,909 (GRCm39) missense probably damaging 1.00
R5223:Polr1a UTSW 6 71,944,891 (GRCm39) missense possibly damaging 0.73
R5239:Polr1a UTSW 6 71,890,021 (GRCm39) missense probably damaging 1.00
R5546:Polr1a UTSW 6 71,906,350 (GRCm39) missense possibly damaging 0.64
R5599:Polr1a UTSW 6 71,944,346 (GRCm39) missense possibly damaging 0.95
R5696:Polr1a UTSW 6 71,906,410 (GRCm39) missense probably benign 0.05
R5850:Polr1a UTSW 6 71,903,667 (GRCm39) missense probably benign 0.00
R6274:Polr1a UTSW 6 71,931,874 (GRCm39) splice site probably null
R6526:Polr1a UTSW 6 71,906,427 (GRCm39) missense possibly damaging 0.89
R6578:Polr1a UTSW 6 71,953,025 (GRCm39) missense possibly damaging 0.93
R6660:Polr1a UTSW 6 71,944,358 (GRCm39) missense probably damaging 0.98
R6892:Polr1a UTSW 6 71,941,696 (GRCm39) missense possibly damaging 0.72
R7274:Polr1a UTSW 6 71,897,500 (GRCm39) nonsense probably null
R7291:Polr1a UTSW 6 71,918,440 (GRCm39) missense probably benign 0.02
R7311:Polr1a UTSW 6 71,927,863 (GRCm39) missense possibly damaging 0.53
R7431:Polr1a UTSW 6 71,903,643 (GRCm39) missense probably benign 0.14
R7479:Polr1a UTSW 6 71,913,281 (GRCm39) missense probably damaging 1.00
R7607:Polr1a UTSW 6 71,890,005 (GRCm39) missense probably benign
R7739:Polr1a UTSW 6 71,931,819 (GRCm39) missense possibly damaging 0.94
R7746:Polr1a UTSW 6 71,918,496 (GRCm39) missense probably damaging 1.00
R7764:Polr1a UTSW 6 71,930,054 (GRCm39) missense probably damaging 1.00
R7835:Polr1a UTSW 6 71,892,126 (GRCm39) missense probably benign 0.02
R8029:Polr1a UTSW 6 71,889,940 (GRCm39) nonsense probably null
R8057:Polr1a UTSW 6 71,908,644 (GRCm39) missense possibly damaging 0.95
R8144:Polr1a UTSW 6 71,927,600 (GRCm39) missense probably benign
R8170:Polr1a UTSW 6 71,897,733 (GRCm39) missense probably benign
R8320:Polr1a UTSW 6 71,918,368 (GRCm39) missense probably damaging 0.99
R8328:Polr1a UTSW 6 71,897,718 (GRCm39) missense probably benign
R8331:Polr1a UTSW 6 71,953,163 (GRCm39) missense probably damaging 1.00
R8362:Polr1a UTSW 6 71,941,651 (GRCm39) missense probably benign 0.00
R8511:Polr1a UTSW 6 71,897,504 (GRCm39) missense probably benign 0.01
R8709:Polr1a UTSW 6 71,951,832 (GRCm39) missense probably benign
R8745:Polr1a UTSW 6 71,931,755 (GRCm39) missense probably damaging 1.00
R8784:Polr1a UTSW 6 71,927,612 (GRCm39) missense probably benign
R9055:Polr1a UTSW 6 71,892,053 (GRCm39) missense possibly damaging 0.46
R9088:Polr1a UTSW 6 71,908,767 (GRCm39) missense probably benign 0.26
R9211:Polr1a UTSW 6 71,943,521 (GRCm39) missense probably damaging 1.00
R9228:Polr1a UTSW 6 71,931,755 (GRCm39) missense probably damaging 1.00
R9240:Polr1a UTSW 6 71,940,661 (GRCm39) nonsense probably null
R9267:Polr1a UTSW 6 71,942,542 (GRCm39) missense probably benign
R9302:Polr1a UTSW 6 71,901,683 (GRCm39) critical splice donor site probably null
R9744:Polr1a UTSW 6 71,906,372 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GCTTTGAAGGCTGCTTGAAG -3'
(R):5'- TCTCCAAGGAACATGAGGTCAGG -3'

Sequencing Primer
(F):5'- TTGAAGTAGACCTGTAGGCCC -3'
(R):5'- AGGATTTGTCCCAGCACAG -3'
Posted On 2014-09-17