Incidental Mutation 'R5071:Polr1a'
ID 388765
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 042661-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5071 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 71886037-71956419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71908693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 506 (N506S)
Ref Sequence ENSEMBL: ENSMUSP00000060858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055296] [ENSMUST00000206556]
AlphaFold O35134
Predicted Effect possibly damaging
Transcript: ENSMUST00000055296
AA Change: N506S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: N506S

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: ENSMUST00000205333
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: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.3%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,659,207 (GRCm39) W528R probably damaging Het
Agbl1 A G 7: 76,071,665 (GRCm39) E329G probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI182371 A T 2: 34,975,227 (GRCm39) I334N probably benign Het
Aldh1b1 A G 4: 45,803,383 (GRCm39) probably null Het
Armc9 G A 1: 86,113,838 (GRCm39) M298I probably benign Het
Atp8a1 T A 5: 67,973,066 (GRCm39) K27N probably benign Het
BC004004 G A 17: 29,513,389 (GRCm39) probably null Het
Ccdc83 A T 7: 89,899,737 (GRCm39) F45Y probably damaging Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh17 G T 4: 11,810,325 (GRCm39) G672V probably damaging Het
Cdh5 C A 8: 104,867,334 (GRCm39) T537K probably damaging Het
Chd1 T A 17: 15,982,667 (GRCm39) S1377R probably benign Het
Chd2 T C 7: 73,079,437 (GRCm39) N1821S probably benign Het
Cnot3 A G 7: 3,653,860 (GRCm39) K4R probably damaging Het
Colq T A 14: 31,250,789 (GRCm39) I339F possibly damaging Het
Coq2 A T 5: 100,815,816 (GRCm39) L121Q probably damaging Het
Csnk1e G A 15: 79,305,072 (GRCm39) R342* probably null Het
Cstl1 A T 2: 148,592,847 (GRCm39) M1L probably benign Het
Cwh43 A G 5: 73,581,256 (GRCm39) probably null Het
Cyp2a22 A T 7: 26,631,906 (GRCm39) F450Y probably benign Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Cyp4a29 A G 4: 115,104,860 (GRCm39) T123A probably benign Het
Dgkh T C 14: 78,841,972 (GRCm39) K417E probably damaging Het
Dnah11 A T 12: 118,046,188 (GRCm39) L1750* probably null Het
Edn1 A G 13: 42,457,153 (GRCm39) E62G probably damaging Het
Eef1akmt1 A G 14: 57,803,464 (GRCm39) L30P probably damaging Het
Fbxo42 T C 4: 140,926,256 (GRCm39) W313R probably damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Fitm1 T A 14: 55,813,230 (GRCm39) V31E possibly damaging Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gabrd A C 4: 155,471,619 (GRCm39) F228C probably damaging Het
Gm5916 A C 9: 36,039,964 (GRCm39) L8R probably benign Het
Gpr108 A G 17: 57,542,335 (GRCm39) S557P probably damaging Het
Gpr75 C A 11: 30,842,380 (GRCm39) N428K probably damaging Het
H2-M5 T G 17: 37,298,076 (GRCm39) probably null Het
Hdac6 A G X: 7,811,036 (GRCm39) F104L probably damaging Homo
Homer3 T C 8: 70,744,005 (GRCm39) V243A probably benign Het
Hspg2 T C 4: 137,267,541 (GRCm39) S2050P probably damaging Het
Hydin A G 8: 111,265,105 (GRCm39) N2763D probably benign Het
Ifi203 T C 1: 173,762,676 (GRCm39) Q152R possibly damaging Het
Ifi44 T C 3: 151,455,269 (GRCm39) probably benign Het
Ifi47 A G 11: 48,986,361 (GRCm39) T43A probably benign Het
Ighv1-24 A G 12: 114,736,748 (GRCm39) Y51H probably benign Het
Inf2 A T 12: 112,578,473 (GRCm39) probably null Het
Insl6 T C 19: 29,302,655 (GRCm39) R21G probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Ltbp3 T C 19: 5,806,851 (GRCm39) C1043R probably damaging Het
Mpeg1 T A 19: 12,438,545 (GRCm39) M1K probably null Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Muc21 G A 17: 35,931,444 (GRCm39) probably benign Het
Ncald A T 15: 37,397,478 (GRCm39) H67Q probably damaging Het
Nek9 C A 12: 85,374,233 (GRCm39) R268L possibly damaging Het
Nudt5 T A 2: 5,869,198 (GRCm39) H141Q probably benign Het
Numbl G A 7: 26,980,415 (GRCm39) D466N probably damaging Het
Or14c46 A G 7: 85,918,799 (GRCm39) I66T probably damaging Het
Or2l5 A G 16: 19,333,777 (GRCm39) I203T probably benign Het
Or4c100 T C 2: 88,356,385 (GRCm39) S153P probably damaging Het
Or51l14 A T 7: 103,100,617 (GRCm39) E24D probably benign Het
Or52n2c A C 7: 104,574,700 (GRCm39) N90K probably benign Het
Or6x1 T C 9: 40,098,960 (GRCm39) L183S probably damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Pik3c2g T A 6: 139,665,873 (GRCm39) C65S probably null Het
Plagl1 A G 10: 13,003,005 (GRCm39) Y91C probably damaging Het
Pomt2 A C 12: 87,180,234 (GRCm39) C256G probably damaging Het
Psg29 T A 7: 16,945,763 (GRCm39) D444E probably damaging Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Ptprf C A 4: 118,069,196 (GRCm39) G1624W probably damaging Het
Rbm38 C T 2: 172,863,875 (GRCm39) P15S probably benign Het
Rc3h1 A G 1: 160,787,047 (GRCm39) D814G possibly damaging Het
Rnf40 T C 7: 127,196,458 (GRCm39) L802P probably damaging Het
Rusc2 A G 4: 43,415,240 (GRCm39) D182G probably benign Het
Setd1b A G 5: 123,298,977 (GRCm39) probably benign Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slc8a2 T C 7: 15,884,508 (GRCm39) L626P possibly damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Smarcc2 A G 10: 128,299,809 (GRCm39) D158G probably damaging Het
Sptbn1 A G 11: 30,063,854 (GRCm39) probably null Het
St3gal5 T C 6: 72,109,037 (GRCm39) C42R probably damaging Het
Syt7 T C 19: 10,420,792 (GRCm39) S397P possibly damaging Het
Tenm2 T A 11: 35,959,208 (GRCm39) T1114S probably damaging Het
Thada T A 17: 84,693,960 (GRCm39) D1263V probably damaging Het
Tmco3 G T 8: 13,342,860 (GRCm39) E199* probably null Het
Tpcn1 A T 5: 120,686,334 (GRCm39) probably null Het
Tppp2 G A 14: 52,157,912 (GRCm39) R119Q probably benign Het
Trim30d A C 7: 104,137,165 (GRCm39) V13G probably damaging Het
Ubxn2b A T 4: 6,214,746 (GRCm39) Q260L probably damaging Het
Ufl1 A G 4: 25,254,780 (GRCm39) Y559H probably benign Het
Usp5 A G 6: 124,803,342 (GRCm39) F7L probably benign Het
Utrn A T 10: 12,259,948 (GRCm39) probably null Het
Vmn1r28 A T 6: 58,242,894 (GRCm39) I246F probably benign Het
Vmn2r2 C A 3: 64,024,321 (GRCm39) M753I probably benign Het
Zbtb26 T C 2: 37,325,941 (GRCm39) H365R probably benign Het
Zfp976 A T 7: 42,262,354 (GRCm39) Y494* probably null 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
R2071:Polr1a UTSW 6 71,953,058 (GRCm39) missense possibly damaging 0.64
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
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'- GAAACCAGGCAGCTCATTTTG -3'
(R):5'- TGATTAGCCCTGCTCAGAGG -3'

Sequencing Primer
(F):5'- AACCAGGCAGCTCATTTTGTTAGC -3'
(R):5'- TGCTCAGAGGCAGCAAGTTG -3'
Posted On 2016-06-06