Incidental Mutation 'R2414:Polr1b'
ID 250087
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 040378-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2414 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 128942915-128968514 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 128945054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000103205
SMART Domains Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395

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: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 100% (38/38)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 C A 9: 121,738,040 (GRCm39) S138R probably damaging Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Arfgef2 A G 2: 166,687,424 (GRCm39) E216G probably benign Het
Aspscr1 T C 11: 120,580,048 (GRCm39) S196P probably benign Het
AU040320 A T 4: 126,762,484 (GRCm39) probably null Het
BC002059 T C 17: 17,193,932 (GRCm39) noncoding transcript Het
Cep112 A G 11: 108,643,408 (GRCm39) N799S possibly damaging Het
Cilp A G 9: 65,181,927 (GRCm39) probably benign Het
Cpn2 T C 16: 30,079,392 (GRCm39) E103G probably benign Het
Cpt1b G A 15: 89,304,283 (GRCm39) probably benign Het
Epor T A 9: 21,870,785 (GRCm39) D365V probably damaging Het
H2bc21 T A 3: 96,128,750 (GRCm39) I90N possibly damaging Het
Hip1r T C 5: 124,139,306 (GRCm39) Y900H probably damaging Het
Hoxc9 A T 15: 102,892,540 (GRCm39) N251I probably damaging Het
Hpd C T 5: 123,315,587 (GRCm39) probably null Het
Lrrc34 T A 3: 30,688,711 (GRCm39) I197L probably benign Het
Msi2 A G 11: 88,607,373 (GRCm39) V78A probably damaging Het
Myh4 A G 11: 67,141,594 (GRCm39) I818V probably benign Het
Nol4 T C 18: 22,956,629 (GRCm39) probably null Het
Plekha5 A G 6: 140,496,582 (GRCm39) N362S probably damaging Het
Rc3h2 A T 2: 37,289,831 (GRCm39) probably null Het
Sgsm3 A G 15: 80,890,946 (GRCm39) N136D probably benign Het
Slco1a5 A G 6: 142,181,976 (GRCm39) C583R probably damaging Het
Surf1 A G 2: 26,806,295 (GRCm39) W13R probably damaging Het
Tesk2 T C 4: 116,658,954 (GRCm39) W276R possibly damaging Het
Tmem8b A G 4: 43,673,892 (GRCm39) probably benign Het
Togaram2 T G 17: 72,023,304 (GRCm39) probably benign Het
Ttll11 A G 2: 35,869,546 (GRCm39) S31P unknown Het
Ttll8 A G 15: 88,820,336 (GRCm39) probably benign Het
Tub A G 7: 108,626,240 (GRCm39) K259E probably damaging Het
Ube2o T C 11: 116,439,683 (GRCm39) I162M probably benign Het
Vamp8 C T 6: 72,365,326 (GRCm39) M1I probably null Het
Zfp503 C A 14: 22,036,032 (GRCm39) G295* probably null 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
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'- GTGAATTGTCTTTCAGGCCATAC -3'
(R):5'- ATTCACGGCCCAGCTGATATC -3'

Sequencing Primer
(F):5'- GGCCATACCTCCCTTTGAATTTG -3'
(R):5'- ACCAGATGTGTGTCTGAACC -3'
Posted On 2014-11-12