Incidental Mutation 'R2063:Polr1a'
ID 228843
Institutional Source Beutler Lab
Gene Symbol Polr1a
Ensembl Gene ENSMUSG00000049553
Gene Name polymerase (RNA) I polypeptide A
Synonyms RPA194, 3010014K16Rik, 194kDa, mRPA1, Rpo1-4
MMRRC Submission 040068-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2063 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 71909053-71984935 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 71936285 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000060858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055296] [ENSMUST00000206556]
AlphaFold O35134
Predicted Effect probably null
Transcript: ENSMUST00000055296
SMART Domains Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553

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 noncoding transcript
Transcript: ENSMUST00000205942
Predicted Effect probably benign
Transcript: ENSMUST00000206556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206823
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 67,920,702 (GRCm38) I184L probably benign Het
9530002B09Rik T A 4: 122,689,322 (GRCm38) probably benign Het
Abca15 A T 7: 120,360,904 (GRCm38) T637S possibly damaging Het
Adgrv1 T C 13: 81,561,469 (GRCm38) K1135R possibly damaging Het
Afap1l1 A T 18: 61,739,122 (GRCm38) probably null Het
AI467606 A G 7: 127,092,837 (GRCm38) S195G probably damaging Het
Alox12e G A 11: 70,316,002 (GRCm38) R620W probably damaging Het
Ascc2 A T 11: 4,681,496 (GRCm38) M646L probably benign Het
Ccnt1 A T 15: 98,551,942 (GRCm38) H156Q probably benign Het
Cic T A 7: 25,273,451 (GRCm38) V869E probably damaging Het
Cpsf2 A G 12: 101,983,463 (GRCm38) D118G probably damaging Het
Csnk1g1 A G 9: 66,002,230 (GRCm38) S210G probably damaging Het
Cyp2c40 T A 19: 39,786,780 (GRCm38) M343L probably benign Het
Cyp4a12b A T 4: 115,433,503 (GRCm38) D274V possibly damaging Het
Dnaaf3 T C 7: 4,523,799 (GRCm38) I426M possibly damaging Het
Dnah3 C T 7: 119,951,909 (GRCm38) M3062I probably damaging Het
Dtx2 C T 5: 136,030,577 (GRCm38) S493F probably damaging Het
Elavl2 A T 4: 91,253,450 (GRCm38) S278R possibly damaging Het
Emilin2 T C 17: 71,274,955 (GRCm38) S259G probably benign Het
Endov T C 11: 119,499,582 (GRCm38) F12S probably damaging Het
Faim2 G A 15: 99,514,433 (GRCm38) T140I probably damaging Het
Fbxo21 T C 5: 117,976,966 (GRCm38) S56P probably benign Het
Fgb C A 3: 83,049,689 (GRCm38) D25Y probably benign Het
Foxj2 A T 6: 122,840,241 (GRCm38) H509L probably benign Het
Fth1 T A 19: 9,984,212 (GRCm38) L49Q probably damaging Het
Gbp11 C A 5: 105,328,584 (GRCm38) E220* probably null Het
Gm12695 T C 4: 96,769,726 (GRCm38) T69A probably benign Het
Gm1527 C A 3: 28,926,647 (GRCm38) T632N probably benign Het
Gm4787 A T 12: 81,378,920 (GRCm38) S155T probably benign Het
Gm9573 T A 17: 35,621,405 (GRCm38) probably benign Het
Gtf2f2 A G 14: 75,917,696 (GRCm38) S142P possibly damaging Het
Helb T C 10: 120,105,766 (GRCm38) Y339C probably benign Het
Hs3st4 A G 7: 124,397,013 (GRCm38) I301V probably benign Het
Hunk A G 16: 90,493,480 (GRCm38) D382G probably damaging Het
Ifnb1 T A 4: 88,522,759 (GRCm38) I6F possibly damaging Het
Il10 T C 1: 131,020,033 (GRCm38) L41P probably damaging Het
Il2rg A G X: 101,267,810 (GRCm38) L57P possibly damaging Het
Invs T A 4: 48,396,287 (GRCm38) L320Q probably damaging Het
Itpr3 G A 17: 27,098,076 (GRCm38) M768I probably benign Het
Krt90 T C 15: 101,558,359 (GRCm38) E263G probably benign Het
Lama2 C T 10: 27,164,926 (GRCm38) C1467Y probably damaging Het
Med24 A G 11: 98,715,646 (GRCm38) L330P probably damaging Het
Mrto4 T C 4: 139,349,023 (GRCm38) K86E probably benign Het
Mtcl1 T C 17: 66,346,355 (GRCm38) R1065G probably damaging Het
Mtmr14 G A 6: 113,240,361 (GRCm38) G38D probably damaging Het
Mtus1 T C 8: 41,082,708 (GRCm38) E657G probably damaging Het
Myo5c A T 9: 75,281,868 (GRCm38) Q1020L probably benign Het
Nav1 C T 1: 135,449,004 (GRCm38) R1694Q probably damaging Het
Nckap1 T C 2: 80,570,150 (GRCm38) K69R probably damaging Het
Nlrp1b T C 11: 71,161,086 (GRCm38) N1012D probably benign Het
Ntrk2 A C 13: 58,859,297 (GRCm38) K238Q probably damaging Het
Oas1g T C 5: 120,885,883 (GRCm38) E121G probably damaging Het
Olfr324 A G 11: 58,597,570 (GRCm38) N58S probably damaging Het
Olfr667 T C 7: 104,916,775 (GRCm38) N174D probably benign Het
Pcdh8 A T 14: 79,768,211 (GRCm38) S912R probably damaging Het
Pfpl C T 19: 12,429,873 (GRCm38) S496L probably damaging Het
Phc2 T C 4: 128,747,136 (GRCm38) F672S probably damaging Het
Pkhd1l1 A T 15: 44,550,752 (GRCm38) H2805L possibly damaging Het
Pla2g4a T C 1: 149,840,676 (GRCm38) N678S possibly damaging Het
Plxnb3 T A X: 73,771,751 (GRCm38) Y1845* probably null Het
Prl3d3 A C 13: 27,162,321 (GRCm38) E180D probably benign Het
Prl7a2 T A 13: 27,660,887 (GRCm38) Y172F probably damaging Het
Prpf3 A T 3: 95,844,239 (GRCm38) D383E probably benign Het
Psmc4 A T 7: 28,048,897 (GRCm38) L73H probably damaging Het
Rapgef3 C A 15: 97,766,961 (GRCm38) G7V probably damaging Het
Rasl12 G A 9: 65,410,824 (GRCm38) G157R probably damaging Het
Rnf38 A C 4: 44,149,098 (GRCm38) V83G probably damaging Het
Rnls A C 19: 33,202,544 (GRCm38) S51A probably benign Het
Siglecf A G 7: 43,352,380 (GRCm38) T205A possibly damaging Het
Skint1 T A 4: 112,025,533 (GRCm38) V258D probably benign Het
Slc12a5 C T 2: 164,997,147 (GRCm38) R1072W probably damaging Het
Spata13 GTTAGGCT GT 14: 60,760,871 (GRCm38) probably benign Het
Specc1 T G 11: 62,118,296 (GRCm38) S293A probably benign Het
Speer2 T G 16: 69,860,497 (GRCm38) Q86P probably benign Het
Tbc1d15 T C 10: 115,229,173 (GRCm38) D169G probably benign Het
Tbx20 C A 9: 24,769,771 (GRCm38) E142* probably null Het
Tcp1 T A 17: 12,920,812 (GRCm38) L199H probably damaging Het
Tex26 A T 5: 149,439,739 (GRCm38) R5W probably damaging Het
Tg C A 15: 66,828,553 (GRCm38) A120E probably damaging Het
Thrap3 T C 4: 126,175,396 (GRCm38) Y654C possibly damaging Het
Tmem57 A T 4: 134,828,279 (GRCm38) N294K possibly damaging Het
Troap T C 15: 99,082,463 (GRCm38) L508P probably benign Het
Ubap2 C T 4: 41,199,872 (GRCm38) A752T probably benign Het
Ush1c T C 7: 46,229,481 (GRCm38) Y74C probably damaging Het
Vmn1r55 A G 7: 5,147,049 (GRCm38) V125A possibly damaging Het
Vmn2r120 T A 17: 57,524,553 (GRCm38) H412L possibly damaging Het
Vps54 C T 11: 21,277,955 (GRCm38) T176I probably damaging Het
Wdr95 T C 5: 149,579,162 (GRCm38) probably null Het
Zfp81 T C 17: 33,335,304 (GRCm38) T179A probably benign Het
Other mutations in Polr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Polr1a APN 6 71,948,486 (GRCm38) missense probably benign 0.32
IGL01834:Polr1a APN 6 71,948,462 (GRCm38) missense probably benign
IGL01902:Polr1a APN 6 71,963,748 (GRCm38) missense probably damaging 1.00
IGL02101:Polr1a APN 6 71,950,802 (GRCm38) missense probably benign 0.00
IGL02325:Polr1a APN 6 71,920,657 (GRCm38) missense probably benign 0.38
IGL02398:Polr1a APN 6 71,936,556 (GRCm38) splice site probably benign
IGL02528:Polr1a APN 6 71,964,717 (GRCm38) missense probably benign
IGL02555:Polr1a APN 6 71,920,457 (GRCm38) missense probably damaging 0.98
IGL02613:Polr1a APN 6 71,967,320 (GRCm38) missense probably damaging 1.00
IGL02693:Polr1a APN 6 71,963,846 (GRCm38) splice site probably benign
IGL02892:Polr1a APN 6 71,931,696 (GRCm38) missense possibly damaging 0.70
IGL03059:Polr1a APN 6 71,936,512 (GRCm38) missense probably benign
IGL03174:Polr1a APN 6 71,977,347 (GRCm38) missense possibly damaging 0.82
D4043:Polr1a UTSW 6 71,941,417 (GRCm38) missense possibly damaging 0.92
R0092:Polr1a UTSW 6 71,967,455 (GRCm38) splice site probably benign
R0217:Polr1a UTSW 6 71,963,703 (GRCm38) missense probably benign 0.19
R0267:Polr1a UTSW 6 71,974,139 (GRCm38) missense probably damaging 0.99
R0329:Polr1a UTSW 6 71,966,416 (GRCm38) missense possibly damaging 0.96
R0330:Polr1a UTSW 6 71,966,416 (GRCm38) missense possibly damaging 0.96
R0352:Polr1a UTSW 6 71,920,763 (GRCm38) splice site probably benign
R0411:Polr1a UTSW 6 71,978,421 (GRCm38) missense possibly damaging 0.95
R0446:Polr1a UTSW 6 71,950,664 (GRCm38) critical splice donor site probably null
R0846:Polr1a UTSW 6 71,924,643 (GRCm38) missense probably damaging 1.00
R1035:Polr1a UTSW 6 71,967,916 (GRCm38) missense probably benign
R1294:Polr1a UTSW 6 71,912,902 (GRCm38) missense probably damaging 0.99
R1460:Polr1a UTSW 6 71,941,384 (GRCm38) missense probably damaging 0.99
R1657:Polr1a UTSW 6 71,941,535 (GRCm38) missense probably damaging 1.00
R1846:Polr1a UTSW 6 71,976,188 (GRCm38) missense probably damaging 0.98
R1862:Polr1a UTSW 6 71,909,203 (GRCm38) missense probably damaging 0.96
R1865:Polr1a UTSW 6 71,966,524 (GRCm38) missense probably damaging 1.00
R1903:Polr1a UTSW 6 71,967,914 (GRCm38) missense probably benign 0.02
R1937:Polr1a UTSW 6 71,936,552 (GRCm38) critical splice donor site probably null
R2071:Polr1a UTSW 6 71,976,074 (GRCm38) missense possibly damaging 0.64
R2084:Polr1a UTSW 6 71,950,809 (GRCm38) missense possibly damaging 0.69
R2377:Polr1a UTSW 6 71,972,826 (GRCm38) critical splice donor site probably null
R2410:Polr1a UTSW 6 71,974,882 (GRCm38) missense probably benign
R3001:Polr1a UTSW 6 71,913,016 (GRCm38) missense probably benign 0.01
R3001:Polr1a UTSW 6 71,965,644 (GRCm38) missense probably benign 0.02
R3002:Polr1a UTSW 6 71,965,644 (GRCm38) missense probably benign 0.02
R3002:Polr1a UTSW 6 71,913,016 (GRCm38) missense probably benign 0.01
R3924:Polr1a UTSW 6 71,929,450 (GRCm38) missense probably benign 0.00
R4105:Polr1a UTSW 6 71,976,191 (GRCm38) missense probably damaging 0.98
R4125:Polr1a UTSW 6 71,965,706 (GRCm38) missense probably benign 0.00
R4271:Polr1a UTSW 6 71,953,022 (GRCm38) missense probably benign 0.02
R4440:Polr1a UTSW 6 71,950,848 (GRCm38) missense probably damaging 0.98
R4667:Polr1a UTSW 6 71,917,821 (GRCm38) missense probably benign 0.30
R4769:Polr1a UTSW 6 71,950,868 (GRCm38) missense probably benign 0.01
R4801:Polr1a UTSW 6 71,976,070 (GRCm38) missense probably benign 0.00
R4802:Polr1a UTSW 6 71,976,070 (GRCm38) missense probably benign 0.00
R4828:Polr1a UTSW 6 71,966,401 (GRCm38) missense possibly damaging 0.93
R4911:Polr1a UTSW 6 71,909,229 (GRCm38) missense possibly damaging 0.67
R5071:Polr1a UTSW 6 71,931,709 (GRCm38) missense possibly damaging 0.71
R5165:Polr1a UTSW 6 71,967,925 (GRCm38) missense probably damaging 1.00
R5223:Polr1a UTSW 6 71,967,907 (GRCm38) missense possibly damaging 0.73
R5239:Polr1a UTSW 6 71,913,037 (GRCm38) missense probably damaging 1.00
R5546:Polr1a UTSW 6 71,929,366 (GRCm38) missense possibly damaging 0.64
R5599:Polr1a UTSW 6 71,967,362 (GRCm38) missense possibly damaging 0.95
R5696:Polr1a UTSW 6 71,929,426 (GRCm38) missense probably benign 0.05
R5850:Polr1a UTSW 6 71,926,683 (GRCm38) missense probably benign 0.00
R6274:Polr1a UTSW 6 71,954,890 (GRCm38) splice site probably null
R6526:Polr1a UTSW 6 71,929,443 (GRCm38) missense possibly damaging 0.89
R6578:Polr1a UTSW 6 71,976,041 (GRCm38) missense possibly damaging 0.93
R6660:Polr1a UTSW 6 71,967,374 (GRCm38) missense probably damaging 0.98
R6892:Polr1a UTSW 6 71,964,712 (GRCm38) missense possibly damaging 0.72
R7274:Polr1a UTSW 6 71,920,516 (GRCm38) nonsense probably null
R7291:Polr1a UTSW 6 71,941,456 (GRCm38) missense probably benign 0.02
R7311:Polr1a UTSW 6 71,950,879 (GRCm38) missense possibly damaging 0.53
R7431:Polr1a UTSW 6 71,926,659 (GRCm38) missense probably benign 0.14
R7479:Polr1a UTSW 6 71,936,297 (GRCm38) missense probably damaging 1.00
R7607:Polr1a UTSW 6 71,913,021 (GRCm38) missense probably benign
R7739:Polr1a UTSW 6 71,954,835 (GRCm38) missense possibly damaging 0.94
R7746:Polr1a UTSW 6 71,941,512 (GRCm38) missense probably damaging 1.00
R7764:Polr1a UTSW 6 71,953,070 (GRCm38) missense probably damaging 1.00
R7835:Polr1a UTSW 6 71,915,142 (GRCm38) missense probably benign 0.02
R8029:Polr1a UTSW 6 71,912,956 (GRCm38) nonsense probably null
R8057:Polr1a UTSW 6 71,931,660 (GRCm38) missense possibly damaging 0.95
R8144:Polr1a UTSW 6 71,950,616 (GRCm38) missense probably benign
R8170:Polr1a UTSW 6 71,920,749 (GRCm38) missense probably benign
R8320:Polr1a UTSW 6 71,941,384 (GRCm38) missense probably damaging 0.99
R8328:Polr1a UTSW 6 71,920,734 (GRCm38) missense probably benign
R8331:Polr1a UTSW 6 71,976,179 (GRCm38) missense probably damaging 1.00
R8362:Polr1a UTSW 6 71,964,667 (GRCm38) missense probably benign 0.00
R8511:Polr1a UTSW 6 71,920,520 (GRCm38) missense probably benign 0.01
R8709:Polr1a UTSW 6 71,974,848 (GRCm38) missense probably benign
R8745:Polr1a UTSW 6 71,954,771 (GRCm38) missense probably damaging 1.00
R8784:Polr1a UTSW 6 71,950,628 (GRCm38) missense probably benign
R9055:Polr1a UTSW 6 71,915,069 (GRCm38) missense possibly damaging 0.46
R9088:Polr1a UTSW 6 71,931,783 (GRCm38) missense probably benign 0.26
R9211:Polr1a UTSW 6 71,966,537 (GRCm38) missense probably damaging 1.00
R9228:Polr1a UTSW 6 71,954,771 (GRCm38) missense probably damaging 1.00
R9240:Polr1a UTSW 6 71,963,677 (GRCm38) nonsense probably null
R9267:Polr1a UTSW 6 71,965,558 (GRCm38) missense probably benign
R9302:Polr1a UTSW 6 71,924,699 (GRCm38) critical splice donor site probably null
R9744:Polr1a UTSW 6 71,929,388 (GRCm38) missense probably benign 0.05
Predicted Primers
Posted On 2014-09-17