Incidental Mutation 'R5165:Polr1a'
ID 395646
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 042746-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5165 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 71886037-71956419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 71944909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 1322 (Y1322D)
Ref Sequence ENSEMBL: ENSMUSP00000060858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055296]
AlphaFold O35134
Predicted Effect probably damaging
Transcript: ENSMUST00000055296
AA Change: Y1322D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: Y1322D

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: ENSMUST00000181028
Predicted Effect unknown
Transcript: ENSMUST00000205517
AA Change: Y347D
Meta Mutation Damage Score 0.9128 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 T A 6: 83,503,814 (GRCm39) I77F probably benign Het
Actl6a G A 3: 32,774,357 (GRCm39) V285I probably benign Het
Adam9 A T 8: 25,457,190 (GRCm39) I646N possibly damaging Het
Ahnak T C 19: 8,993,029 (GRCm39) I4771T possibly damaging Het
Alas1 T C 9: 106,118,454 (GRCm39) T223A probably damaging Het
Apc2 A G 10: 80,151,684 (GRCm39) E2246G probably damaging Het
Atp1a1 A G 3: 101,489,105 (GRCm39) I795T probably benign Het
Ccn3 A G 15: 54,612,585 (GRCm39) D198G probably damaging Het
Cdhr4 T C 9: 107,874,829 (GRCm39) L633P probably damaging Het
Cep350 A G 1: 155,804,114 (GRCm39) S990P probably damaging Het
Cplx2 A G 13: 54,526,789 (GRCm39) I66V possibly damaging Het
Cx3cl1 T C 8: 95,506,504 (GRCm39) S170P probably benign Het
Cyth1 T C 11: 118,059,908 (GRCm39) N353S possibly damaging Het
Dapp1 T C 3: 137,644,976 (GRCm39) probably null Het
Dmwd G A 7: 18,811,960 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,080 (GRCm39) H516R probably damaging Het
Efemp2 T C 19: 5,525,439 (GRCm39) C39R probably damaging Het
Fnbp4 C G 2: 90,608,001 (GRCm39) Q908E possibly damaging Het
Foxred2 A G 15: 77,840,212 (GRCm39) V26A probably damaging Het
Gkap1 A G 13: 58,411,010 (GRCm39) probably null Het
Gstcd A C 3: 132,790,440 (GRCm39) V109G probably damaging Het
Hoxc9 T A 15: 102,892,432 (GRCm39) M215K probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcnj9 A T 1: 172,150,724 (GRCm39) D296E probably benign Het
Kctd18 T C 1: 57,998,395 (GRCm39) Y68C probably damaging Het
Kif21a A T 15: 90,840,579 (GRCm39) M1179K probably benign Het
Lrfn5 T C 12: 61,886,410 (GRCm39) I66T possibly damaging Het
Lrp12 A G 15: 39,735,857 (GRCm39) S692P probably benign Het
Lrrc10 A T 10: 116,881,965 (GRCm39) N213I probably benign Het
Nceh1 G A 3: 27,295,677 (GRCm39) V313I probably benign Het
Nkx6-3 T A 8: 23,643,759 (GRCm39) H53Q probably damaging Het
Ntmt2 A G 1: 163,550,092 (GRCm39) I53T probably benign Het
Or14j7 A G 17: 38,235,252 (GRCm39) D265G probably benign Het
Or2y16 A G 11: 49,335,203 (GRCm39) H175R probably damaging Het
Or4f53 T A 2: 111,087,568 (GRCm39) V36E possibly damaging Het
Or5b97 A T 19: 12,878,564 (GRCm39) N193K probably benign Het
Oxct1 A T 15: 4,083,251 (GRCm39) T157S possibly damaging Het
Pcdhga3 A G 18: 37,808,723 (GRCm39) E392G possibly damaging Het
Prkdc T A 16: 15,496,136 (GRCm39) S776T probably damaging Het
Ralgapb A G 2: 158,307,832 (GRCm39) I1047V possibly damaging Het
Sertad4 A T 1: 192,529,130 (GRCm39) S229T possibly damaging Het
Shank2 T A 7: 143,963,373 (GRCm39) V327D possibly damaging Het
Skint6 A T 4: 112,722,865 (GRCm39) V904E possibly damaging Het
Slfn8 A T 11: 82,907,953 (GRCm39) Y197N probably damaging Het
Smo T A 6: 29,736,077 (GRCm39) L23Q unknown Het
Snx29 T A 16: 11,238,639 (GRCm39) M23K probably damaging Het
Synrg T C 11: 83,881,761 (GRCm39) S366P probably benign Het
Tomm40 A G 7: 19,447,592 (GRCm39) probably null Het
Tpcn1 T C 5: 120,696,010 (GRCm39) E81G probably damaging Het
Trappc1 A G 11: 69,215,060 (GRCm39) Q26R probably benign Het
Ttn T A 2: 76,606,900 (GRCm39) probably null Het
Usp25 T A 16: 76,873,293 (GRCm39) D450E possibly damaging Het
Zmynd19 T A 2: 24,848,201 (GRCm39) Y132* 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
R5071:Polr1a UTSW 6 71,908,693 (GRCm39) missense possibly damaging 0.71
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'- GCAGAGCTTACTAGGGTGTCTG -3'
(R):5'- CATATTAGGTGGTGGGGCCTAC -3'

Sequencing Primer
(F):5'- AGCTTACTAGGGTGTCTGCAGTTTG -3'
(R):5'- GGGCCTACTGTCCTCTGAAACAC -3'
Posted On 2016-06-21