Incidental Mutation 'R1700:Polr1b'
ID 189627
Institutional Source Beutler Lab
Gene Symbol Polr1b
Ensembl Gene ENSMUSG00000027395
Gene Name polymerase (RNA) I polypeptide B
Synonyms Rpo1-2, RPA116, 128kDa, RPA2, D630020H17Rik
MMRRC Submission 039733-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1700 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 128942915-128968514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128965041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 709 (N709S)
Ref Sequence ENSEMBL: ENSMUSP00000099494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028874] [ENSMUST00000103205]
AlphaFold P70700
Predicted Effect probably benign
Transcript: ENSMUST00000028874
SMART Domains Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpb2_1 37 437 4.6e-35 PFAM
Pfam:RNA_pol_Rpb2_2 186 375 8.9e-14 PFAM
Pfam:RNA_pol_Rpb2_3 455 521 1.4e-28 PFAM
Pfam:RNA_pol_Rpa2_4 563 621 3.6e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103205
AA Change: N709S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: N709S

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpb2_1 37 423 1.7e-35 PFAM
Pfam:RNA_pol_Rpb2_2 186 375 3.2e-11 PFAM
Pfam:RNA_pol_Rpb2_3 455 520 2.1e-29 PFAM
Pfam:RNA_pol_Rpa2_4 563 621 4.1e-23 PFAM
Pfam:RNA_pol_Rpb2_6 670 1031 9.7e-118 PFAM
Pfam:RNA_pol_Rpb2_7 1033 1135 1.2e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147727
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality prior to implantation. [provided by MGI curators]
Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,899,537 (GRCm39) F936L probably benign Het
Adamts12 T A 15: 11,152,143 (GRCm39) I211N probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Alas1 C T 9: 106,116,845 (GRCm39) V293I possibly damaging Het
Ap1g1 T C 8: 110,580,244 (GRCm39) Y569H probably damaging Het
Apc2 A G 10: 80,148,603 (GRCm39) D1190G probably damaging Het
Astn2 G A 4: 65,664,591 (GRCm39) Q679* probably null Het
Atp2a1 T A 7: 126,062,081 (GRCm39) H5L probably damaging Het
Baiap3 T C 17: 25,468,302 (GRCm39) K279E probably damaging Het
C2cd2l G A 9: 44,227,909 (GRCm39) P111S probably benign Het
C7 T A 15: 5,032,274 (GRCm39) K646* probably null Het
Ccp110 C T 7: 118,334,536 (GRCm39) T1003I probably damaging Het
Cdh22 T C 2: 165,012,716 (GRCm39) D123G probably damaging Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Clip1 A G 5: 123,768,433 (GRCm39) V722A probably benign Het
Cpsf4l A G 11: 113,592,901 (GRCm39) F174S probably benign Het
Ctnna3 T C 10: 63,688,551 (GRCm39) C332R probably damaging Het
Cxcl10 A T 5: 92,495,714 (GRCm39) N76K probably damaging Het
Dnaaf9 G A 2: 130,551,858 (GRCm39) L1010F probably damaging Het
Dnaja3 G A 16: 4,502,029 (GRCm39) R11K probably null Het
Efcab10 A G 12: 33,445,170 (GRCm39) T28A possibly damaging Het
Esrrg A G 1: 187,775,850 (GRCm39) R103G probably damaging Het
Exosc2 A G 2: 31,560,818 (GRCm39) K23E probably benign Het
Flot2 C T 11: 77,940,373 (GRCm39) S40L possibly damaging Het
Fsip2 T C 2: 82,822,081 (GRCm39) V5938A probably benign Het
Gclc A G 9: 77,683,571 (GRCm39) T143A probably benign Het
Gpr37 A G 6: 25,669,623 (GRCm39) V407A probably benign Het
Gucy2e A T 11: 69,122,884 (GRCm39) M497K probably benign Het
Herc1 T A 9: 66,357,960 (GRCm39) probably null Het
Hnrnpll A C 17: 80,341,534 (GRCm39) S502A probably benign Het
Ipo11 G T 13: 106,932,170 (GRCm39) T975N probably benign Het
Kif17 C T 4: 137,990,009 (GRCm39) Q66* probably null Het
Lrp10 T C 14: 54,707,209 (GRCm39) V682A possibly damaging Het
Lsmem1 A T 12: 40,230,677 (GRCm39) L75Q probably damaging Het
Med16 A T 10: 79,735,169 (GRCm39) Y430N probably benign Het
Med8 C T 4: 118,269,931 (GRCm39) S72L possibly damaging Het
Mex3a A G 3: 88,443,682 (GRCm39) T253A probably damaging Het
Myf6 T C 10: 107,329,220 (GRCm39) K242E probably damaging Het
Ncald T A 15: 37,397,587 (GRCm39) Y31F probably benign Het
Ndufa12 T A 10: 94,035,855 (GRCm39) Y48N probably damaging Het
Or12e10 T C 2: 87,641,112 (GRCm39) V316A probably benign Het
Or51q1c T A 7: 103,653,329 (GRCm39) Y282* probably null Het
Or5as1 T G 2: 86,980,123 (GRCm39) N294T probably damaging Het
Pde4dip T C 3: 97,610,639 (GRCm39) T1858A probably benign Het
Pgbd1 A G 13: 21,618,651 (GRCm39) L2P probably damaging Het
Piezo1 C T 8: 123,214,241 (GRCm39) R1642H probably damaging Het
Plxna1 A T 6: 89,333,990 (GRCm39) M213K probably damaging Het
Pramel1 T A 4: 143,124,999 (GRCm39) W308R probably damaging Het
Prkag2 A T 5: 25,076,539 (GRCm39) I208N probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rngtt T A 4: 33,330,864 (GRCm39) F156I probably damaging Het
Rpusd3 A G 6: 113,392,494 (GRCm39) *345Q probably null Het
Rrp1b A G 17: 32,276,178 (GRCm39) K575R probably benign Het
Shd G A 17: 56,281,307 (GRCm39) V250I probably damaging Het
Slc12a5 C A 2: 164,834,296 (GRCm39) N749K possibly damaging Het
Sorbs2 T A 8: 46,254,021 (GRCm39) V488D probably damaging Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Srsf4 C A 4: 131,627,871 (GRCm39) probably benign Het
Strn T C 17: 78,999,831 (GRCm39) Y135C probably damaging Het
Synm T C 7: 67,409,376 (GRCm39) M1V probably null Het
Tas1r3 T G 4: 155,946,027 (GRCm39) Q489P probably benign Het
Tas2r103 A T 6: 133,013,774 (GRCm39) N97K probably damaging Het
Tas2r113 A G 6: 132,870,755 (GRCm39) Y261C possibly damaging Het
Tex21 T C 12: 76,268,446 (GRCm39) E112G probably damaging Het
Trappc8 T C 18: 20,966,055 (GRCm39) S1128G probably damaging Het
Ubap1l A G 9: 65,279,025 (GRCm39) probably benign Het
Ubash3a A G 17: 31,434,018 (GRCm39) D121G probably damaging Het
Ubxn4 A G 1: 128,180,023 (GRCm39) I56V possibly damaging Het
Uri1 T C 7: 37,662,949 (GRCm39) I348M probably damaging Het
Usp21 C A 1: 171,111,295 (GRCm39) L379F probably damaging Het
Vmn1r159 T A 7: 22,542,390 (GRCm39) H214L probably damaging Het
Zdbf2 A G 1: 63,341,900 (GRCm39) E93G unknown Het
Other mutations in Polr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Polr1b APN 2 128,967,829 (GRCm39) missense probably damaging 1.00
IGL00559:Polr1b APN 2 128,955,651 (GRCm39) missense probably damaging 1.00
IGL00659:Polr1b APN 2 128,960,020 (GRCm39) critical splice donor site probably null
IGL00672:Polr1b APN 2 128,967,392 (GRCm39) missense probably damaging 1.00
IGL01066:Polr1b APN 2 128,961,072 (GRCm39) missense probably damaging 1.00
IGL01536:Polr1b APN 2 128,967,475 (GRCm39) missense probably benign 0.00
IGL01596:Polr1b APN 2 128,952,046 (GRCm39) missense probably benign 0.38
IGL02156:Polr1b APN 2 128,965,799 (GRCm39) missense probably benign 0.40
IGL02398:Polr1b APN 2 128,944,886 (GRCm39) missense probably benign 0.03
IGL02797:Polr1b APN 2 128,944,899 (GRCm39) missense probably damaging 0.99
IGL02965:Polr1b APN 2 128,967,443 (GRCm39) missense probably benign 0.41
IGL03009:Polr1b APN 2 128,967,988 (GRCm39) missense probably damaging 1.00
IGL03092:Polr1b APN 2 128,965,049 (GRCm39) missense probably damaging 1.00
IGL03129:Polr1b APN 2 128,957,627 (GRCm39) missense probably benign 0.00
IGL03138:Polr1b UTSW 2 128,944,908 (GRCm39) missense probably benign 0.04
PIT4362001:Polr1b UTSW 2 128,951,212 (GRCm39) missense possibly damaging 0.84
R0038:Polr1b UTSW 2 128,957,588 (GRCm39) nonsense probably null
R0038:Polr1b UTSW 2 128,957,588 (GRCm39) nonsense probably null
R0989:Polr1b UTSW 2 128,967,997 (GRCm39) missense probably damaging 0.97
R1508:Polr1b UTSW 2 128,955,654 (GRCm39) missense probably benign 0.24
R1539:Polr1b UTSW 2 128,960,019 (GRCm39) critical splice donor site probably null
R1843:Polr1b UTSW 2 128,944,886 (GRCm39) missense probably benign 0.03
R1920:Polr1b UTSW 2 128,943,031 (GRCm39) missense probably benign 0.00
R2414:Polr1b UTSW 2 128,945,054 (GRCm39) splice site probably benign
R3020:Polr1b UTSW 2 128,957,601 (GRCm39) missense probably benign 0.01
R3837:Polr1b UTSW 2 128,961,027 (GRCm39) missense possibly damaging 0.78
R4466:Polr1b UTSW 2 128,965,802 (GRCm39) missense probably benign 0.03
R4773:Polr1b UTSW 2 128,947,248 (GRCm39) missense probably benign 0.29
R4789:Polr1b UTSW 2 128,951,257 (GRCm39) missense probably benign 0.00
R5027:Polr1b UTSW 2 128,965,803 (GRCm39) missense possibly damaging 0.94
R5579:Polr1b UTSW 2 128,952,028 (GRCm39) missense probably damaging 1.00
R5705:Polr1b UTSW 2 128,947,271 (GRCm39) nonsense probably null
R6303:Polr1b UTSW 2 128,957,682 (GRCm39) missense probably damaging 1.00
R6313:Polr1b UTSW 2 128,967,366 (GRCm39) missense probably damaging 1.00
R6427:Polr1b UTSW 2 128,965,181 (GRCm39) missense probably damaging 0.99
R6677:Polr1b UTSW 2 128,962,131 (GRCm39) intron probably benign
R7033:Polr1b UTSW 2 128,957,562 (GRCm39) missense possibly damaging 0.82
R7163:Polr1b UTSW 2 128,967,931 (GRCm39) missense probably benign 0.44
R7184:Polr1b UTSW 2 128,965,842 (GRCm39) missense possibly damaging 0.94
R7376:Polr1b UTSW 2 128,960,993 (GRCm39) missense probably benign 0.00
R7453:Polr1b UTSW 2 128,967,583 (GRCm39) missense probably damaging 1.00
R7545:Polr1b UTSW 2 128,959,766 (GRCm39) splice site probably null
R7770:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7772:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7774:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7776:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7777:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7814:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7825:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7826:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7827:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7828:Polr1b UTSW 2 128,947,200 (GRCm39) missense probably damaging 1.00
R7959:Polr1b UTSW 2 128,950,014 (GRCm39) missense probably damaging 1.00
R8082:Polr1b UTSW 2 128,957,652 (GRCm39) missense probably benign 0.18
R8251:Polr1b UTSW 2 128,965,086 (GRCm39) missense probably damaging 1.00
R8696:Polr1b UTSW 2 128,967,571 (GRCm39) missense probably damaging 1.00
R8711:Polr1b UTSW 2 128,943,064 (GRCm39) missense probably damaging 0.99
R8746:Polr1b UTSW 2 128,954,597 (GRCm39) missense possibly damaging 0.70
R8823:Polr1b UTSW 2 128,967,457 (GRCm39) missense probably damaging 1.00
R8872:Polr1b UTSW 2 128,957,613 (GRCm39) missense probably damaging 1.00
R8901:Polr1b UTSW 2 128,967,595 (GRCm39) missense probably damaging 1.00
R8963:Polr1b UTSW 2 128,957,576 (GRCm39) missense probably benign
R9488:Polr1b UTSW 2 128,967,417 (GRCm39) missense probably damaging 1.00
R9499:Polr1b UTSW 2 128,957,684 (GRCm39) nonsense probably null
R9550:Polr1b UTSW 2 128,962,205 (GRCm39) missense unknown
R9551:Polr1b UTSW 2 128,957,684 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATGTTAGTCTGATAAGCAGAGCCGC -3'
(R):5'- GGCCGTGAGGACACACAAACATTC -3'

Sequencing Primer
(F):5'- AGAGCCGCCATGCTTAATTTATTC -3'
(R):5'- TCCTTCAGTGATCTCACAGTAAG -3'
Posted On 2014-05-14