Incidental Mutation 'R7163:Polr1b'
ID 557711
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 045330-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7163 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 128942915-128968514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128967931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1108 (D1108G)
Ref Sequence ENSEMBL: ENSMUSP00000099494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035481] [ENSMUST00000103205]
AlphaFold P70700
Predicted Effect probably benign
Transcript: ENSMUST00000035481
SMART Domains Protein: ENSMUSP00000044253
Gene: ENSMUSG00000037938

DomainStartEndE-ValueType
PDB:2LQL|A 1 110 2e-69 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000103205
AA Change: D1108G

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: D1108G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A G 9: 53,319,372 (GRCm39) K4R possibly damaging Het
A830018L16Rik G A 1: 11,484,848 (GRCm39) G19D probably damaging Het
Abca3 A T 17: 24,583,916 (GRCm39) M102L probably benign Het
Adam19 A T 11: 46,022,544 (GRCm39) Y499F probably benign Het
Adck2 T C 6: 39,560,797 (GRCm39) V444A probably damaging Het
Adck5 T C 15: 76,478,016 (GRCm39) V214A probably damaging Het
Agrn G A 4: 156,262,966 (GRCm39) T437M probably damaging Het
Aox3 A T 1: 58,158,671 (GRCm39) I81F probably damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Blmh A G 11: 76,836,987 (GRCm39) Y23C unknown Het
Cacnb1 A G 11: 97,903,726 (GRCm39) V109A probably benign Het
Ccdc27 C T 4: 154,117,282 (GRCm39) R555H not run Het
Cep170 A C 1: 176,602,031 (GRCm39) S358R probably damaging Het
Cfap46 A T 7: 139,197,994 (GRCm39) probably null Het
Dclk1 G T 3: 55,163,549 (GRCm39) E214* probably null Het
Dhrs1 A G 14: 55,976,838 (GRCm39) L282P probably benign Het
Dlgap5 A G 14: 47,637,095 (GRCm39) L461P probably damaging Het
Elp2 G T 18: 24,747,503 (GRCm39) C185F probably benign Het
Fbxw7 T C 3: 84,832,892 (GRCm39) probably benign Het
Fga T C 3: 82,933,571 (GRCm39) V17A probably benign Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm43302 T A 5: 105,441,493 (GRCm39) probably null Het
Gpatch8 TTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC 11: 102,371,014 (GRCm39) probably benign Het
Hcn1 A T 13: 118,062,083 (GRCm39) I450L unknown Het
Hydin T A 8: 111,329,968 (GRCm39) C4901S probably benign Het
Ino80 A T 2: 119,223,356 (GRCm39) I1186N probably damaging Het
Ints7 T A 1: 191,349,949 (GRCm39) I781N possibly damaging Het
Irf2 T A 8: 47,290,712 (GRCm39) V178E possibly damaging Het
Iws1 T A 18: 32,226,277 (GRCm39) S722T possibly damaging Het
Jak1 G A 4: 101,032,385 (GRCm39) S407F probably damaging Het
Kdm3a G T 6: 71,609,061 (GRCm39) D55E probably damaging Het
Kdm5d T C Y: 899,940 (GRCm39) S169P probably damaging Het
Kif15 A G 9: 122,846,722 (GRCm39) N1348S probably damaging Het
Kpna7 G A 5: 144,939,206 (GRCm39) P187L unknown Het
Krt35 A T 11: 99,986,984 (GRCm39) F10Y probably damaging Het
Lemd1 G T 1: 132,184,475 (GRCm39) V131F probably benign Het
Mcf2l G A 8: 12,965,439 (GRCm39) R4H probably benign Het
Megf6 C T 4: 154,351,898 (GRCm39) R1166C probably damaging Het
Mmp11 T C 10: 75,762,410 (GRCm39) I308V possibly damaging Het
Mrgpra4 A G 7: 47,631,238 (GRCm39) V121A probably benign Het
Myl2 T A 5: 122,239,885 (GRCm39) I26N probably damaging Het
Myo15a A G 11: 60,389,195 (GRCm39) M862V Het
Nckap5l T C 15: 99,331,354 (GRCm39) H64R probably damaging Het
Nipsnap2 A C 5: 129,821,774 (GRCm39) E90A probably benign Het
Nup210 G T 6: 91,050,313 (GRCm39) N385K probably damaging Het
Or2h2 T C 17: 37,396,937 (GRCm39) N40S probably damaging Het
Or2t48 C A 11: 58,419,994 (GRCm39) E273* probably null Het
Or5m11b T A 2: 85,805,932 (GRCm39) L115Q probably damaging Het
Or8c19-ps1 T C 9: 38,220,345 (GRCm39) F85L probably damaging Het
Or9e1 T C 11: 58,732,012 (GRCm39) V24A probably benign Het
Pcmt1 A T 10: 7,513,922 (GRCm39) M249K probably benign Het
Pde3a T C 6: 141,433,270 (GRCm39) L767P probably damaging Het
Pde8a T C 7: 80,956,456 (GRCm39) V285A possibly damaging Het
Pla2g4a T A 1: 149,716,416 (GRCm39) K690* probably null Het
Plxna4 T C 6: 32,473,691 (GRCm39) H442R probably benign Het
Prkn G A 17: 12,280,434 (GRCm39) C430Y probably damaging Het
Sec23ip T C 7: 128,364,257 (GRCm39) probably null Het
Slc24a3 A G 2: 145,086,911 (GRCm39) D57G probably benign Het
Sprtn T G 8: 125,625,044 (GRCm39) F50V probably damaging Het
Srr A G 11: 74,803,828 (GRCm39) F43S probably damaging Het
Szt2 A G 4: 118,262,727 (GRCm39) F17L possibly damaging Het
Taar1 G T 10: 23,796,918 (GRCm39) M205I probably benign Het
Tas2r143 A G 6: 42,377,202 (GRCm39) I11V probably benign Het
Tlx1 T C 19: 45,139,655 (GRCm39) S101P probably damaging Het
Tmeff2 T C 1: 50,977,503 (GRCm39) probably null Het
Vhl A G 6: 113,606,451 (GRCm39) D156G possibly damaging Het
Washc4 T A 10: 83,426,897 (GRCm39) D1068E probably damaging Het
Zfp513 A G 5: 31,358,076 (GRCm39) V101A probably benign Het
Zfp82 T C 7: 29,761,669 (GRCm39) R71G probably benign 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
R7033:Polr1b UTSW 2 128,957,562 (GRCm39) missense possibly damaging 0.82
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'- TCAGGGTGGAATCCGCTTTG -3'
(R):5'- TGTATAGACCCAGAGTGAGCCC -3'

Sequencing Primer
(F):5'- ATGCTCTGTTGGCACACG -3'
(R):5'- GTGAGCCCATAATACCCTCACTTG -3'
Posted On 2019-06-26