Incidental Mutation 'R7033:Polr1b'
ID 546429
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 045134-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7033 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 128942915-128968514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128957562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 539 (V539A)
Ref Sequence ENSEMBL: ENSMUSP00000028874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028874] [ENSMUST00000103205]
AlphaFold P70700
Predicted Effect possibly damaging
Transcript: ENSMUST00000028874
AA Change: V539A

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395
AA Change: V539A

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 possibly damaging
Transcript: ENSMUST00000103205
AA Change: V539A

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: V539A

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
Meta Mutation Damage Score 0.0808 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 96% (70/73)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik A G 14: 41,819,374 (GRCm39) Y105C probably damaging Het
Acr T C 15: 89,453,703 (GRCm39) S81P probably benign Het
Akr1c14 T C 13: 4,129,178 (GRCm39) probably null Het
Ank2 C A 3: 126,738,499 (GRCm39) E2375* probably null Het
Avpi1 A G 19: 42,113,416 (GRCm39) W14R probably damaging Het
Brd4 A G 17: 32,417,989 (GRCm39) V55A probably benign Het
Casp8ap2 A G 4: 32,639,392 (GRCm39) N149D probably damaging Het
Ccl25 A T 8: 4,399,641 (GRCm39) probably benign Het
Celf5 A G 10: 81,298,548 (GRCm39) L299P probably damaging Het
Cfap418 A G 4: 10,898,014 (GRCm39) T199A probably benign Het
Cfap57 T G 4: 118,470,323 (GRCm39) T186P possibly damaging Het
Chrm4 A G 2: 91,758,692 (GRCm39) M367V probably benign Het
Col1a2 A T 6: 4,516,904 (GRCm39) probably benign Het
Crybg3 G A 16: 59,374,528 (GRCm39) P2242L probably damaging Het
Cspg4 T C 9: 56,795,358 (GRCm39) V1031A probably damaging Het
Dbnl C A 11: 5,748,102 (GRCm39) P313T probably benign Het
Dnah1 A G 14: 30,986,882 (GRCm39) F3637L probably damaging Het
Dnah7a A T 1: 53,518,820 (GRCm39) I2979N probably damaging Het
Dusp10 T C 1: 183,769,802 (GRCm39) V256A possibly damaging Het
Dync2i1 T C 12: 116,175,511 (GRCm39) M889V probably benign Het
Erlin2 T C 8: 27,521,792 (GRCm39) V164A probably benign Het
Fam110a T C 2: 151,812,131 (GRCm39) D213G probably damaging Het
Fkbp1a T C 2: 151,399,420 (GRCm39) probably null Het
Foxg1 G A 12: 49,431,503 (GRCm39) probably benign Het
Gm12185 T C 11: 48,806,826 (GRCm39) S122G probably benign Het
Gm2042 A T 12: 87,927,051 (GRCm39) D456V probably damaging Het
Grin2b A G 6: 135,900,036 (GRCm39) Y282H probably damaging Het
Gys2 T C 6: 142,418,448 (GRCm39) D27G probably benign Het
H2-DMa T A 17: 34,355,971 (GRCm39) probably null Het
Hectd4 T A 5: 121,502,631 (GRCm39) I4245N possibly damaging Het
Incenp A G 19: 9,870,736 (GRCm39) Y298H unknown Het
Ints2 C T 11: 86,123,911 (GRCm39) G626R probably damaging Het
Kifc1 A T 17: 34,102,671 (GRCm39) V314E probably damaging Het
Lurap1l C T 4: 80,829,604 (GRCm39) P5S probably benign Het
Mtmr11 A G 3: 96,077,262 (GRCm39) Y540C probably damaging Het
Muc4 C A 16: 32,576,698 (GRCm39) probably benign Het
Myh13 A G 11: 67,260,142 (GRCm39) E1860G possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nbeal1 G A 1: 60,350,106 (GRCm39) G2385D probably damaging Het
Ncaph2 G A 15: 89,255,559 (GRCm39) A578T probably benign Het
Ncr1 T C 7: 4,341,144 (GRCm39) V8A possibly damaging Het
Nutm1 T C 2: 112,086,513 (GRCm39) T73A probably damaging Het
Olfm1 G A 2: 28,119,348 (GRCm39) D313N probably damaging Het
Or11h4 A G 14: 50,974,164 (GRCm39) F152L possibly damaging Het
Or13f5 A G 4: 52,826,089 (GRCm39) M231V probably benign Het
Or4a66 T A 2: 88,531,164 (GRCm39) N170Y probably damaging Het
Otog T A 7: 45,916,822 (GRCm39) probably null Het
Peak1 G T 9: 56,166,991 (GRCm39) D312E probably damaging Het
Plekhg1 T C 10: 3,890,251 (GRCm39) I331T probably damaging Het
Polr2a A T 11: 69,638,039 (GRCm39) H143Q possibly damaging Het
Ppargc1b G T 18: 61,440,785 (GRCm39) A711D probably damaging Het
Prnd T A 2: 131,795,362 (GRCm39) C161S possibly damaging Het
Prrt4 A G 6: 29,171,147 (GRCm39) L435P possibly damaging Het
Psen2 C T 1: 180,055,085 (GRCm39) probably null Het
Psg23 T C 7: 18,348,669 (GRCm39) E46G possibly damaging Het
Rasgef1b C T 5: 99,380,195 (GRCm39) R350H probably damaging Het
Rfxank G C 8: 70,590,820 (GRCm39) P16A probably benign Het
Sema6a A G 18: 47,381,637 (GRCm39) I944T probably damaging Het
Serpinc1 A G 1: 160,825,091 (GRCm39) T313A probably benign Het
Slc27a4 T C 2: 29,694,283 (GRCm39) S36P possibly damaging Het
Slc36a1 C A 11: 55,114,563 (GRCm39) R214S probably benign Het
Sorl1 C T 9: 41,942,279 (GRCm39) S982N possibly damaging Het
Speer1k G T 5: 11,000,518 (GRCm39) probably null Het
Syt1 A C 10: 108,526,797 (GRCm39) D37E probably benign Het
Tcl1b5 A T 12: 105,142,750 (GRCm39) D26V probably damaging Het
Tenm4 A T 7: 96,544,430 (GRCm39) K2149* probably null Het
Ubc T A 5: 125,465,238 (GRCm39) I30F probably damaging Het
Ugt1a7c A T 1: 88,023,250 (GRCm39) E136D possibly damaging Het
Utp20 A G 10: 88,590,337 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,289 (GRCm39) V248I probably damaging Het
Vmn2r105 T C 17: 20,428,874 (GRCm39) H734R probably damaging Het
Xrcc2 T G 5: 25,897,707 (GRCm39) I81L possibly damaging Het
Zfat A C 15: 68,052,864 (GRCm39) I310S probably damaging Het
Zfp119a A G 17: 56,173,009 (GRCm39) V278A probably benign Het
Zfp53 A G 17: 21,720,508 (GRCm39) K33E probably benign Het
Zfp866 G T 8: 70,218,491 (GRCm39) H376Q probably damaging 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
R1700:Polr1b UTSW 2 128,965,041 (GRCm39) missense probably damaging 0.99
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
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'- CTTTAGGAATCCGCGTGTGC -3'
(R):5'- CACTTCATCAACTAGGAAAGGC -3'

Sequencing Primer
(F):5'- CCCAGCCATCTTCTCACAGGAG -3'
(R):5'- TTCATCAACTAGGAAAGGCTGAGAAC -3'
Posted On 2019-05-13