Incidental Mutation 'R4466:Polr1b'
ID 330332
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 041723-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4466 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 128942915-128968514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128965802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 815 (I815L)
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
AA Change: I815L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: I815L

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: ENSMUST00000144004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147727
Meta Mutation Damage Score 0.2935 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (55/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik A T 3: 59,745,887 (GRCm39) noncoding transcript Het
Adgra1 T A 7: 139,420,752 (GRCm39) probably benign Het
Akap13 T A 7: 75,252,521 (GRCm39) probably null Het
Amn1 T C 6: 149,068,343 (GRCm39) probably null Het
Ano5 T A 7: 51,220,023 (GRCm39) F374I probably damaging Het
Apol7c T C 15: 77,410,664 (GRCm39) E94G probably benign Het
Arid4b A T 13: 14,307,095 (GRCm39) S117C probably damaging Het
Atm C A 9: 53,359,469 (GRCm39) E2778* probably null Het
Cped1 A T 6: 22,123,651 (GRCm39) Q468L probably benign Het
Crygb A G 1: 65,119,645 (GRCm39) S112P probably damaging Het
Eeig2 T A 3: 108,887,124 (GRCm39) R291S probably benign Het
Eml4 C T 17: 83,729,103 (GRCm39) Q93* probably null Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fhad1 A T 4: 141,684,969 (GRCm39) S457T probably damaging Het
Frmd4b A G 6: 97,300,614 (GRCm39) probably null Het
Gm5134 G C 10: 75,844,409 (GRCm39) K588N probably benign Het
Gpr21 A G 2: 37,407,570 (GRCm39) T39A probably benign Het
Irx1 C A 13: 72,108,101 (GRCm39) G194W probably damaging Het
Itgal C T 7: 126,927,684 (GRCm39) T992I possibly damaging Het
Itpr3 T C 17: 27,325,316 (GRCm39) L1303P probably damaging Het
Kdm2a A T 19: 4,370,328 (GRCm39) D1052E probably damaging Het
Klhl6 T C 16: 19,776,018 (GRCm39) D180G probably damaging Het
M6pr A G 6: 122,290,228 (GRCm39) T64A probably benign Het
Mrpl47 G A 3: 32,784,240 (GRCm39) R177* probably null Het
Mtfr2 A G 10: 20,224,159 (GRCm39) Y31C probably damaging Het
Mup6 T C 4: 60,004,000 (GRCm39) I31T probably damaging Het
Oas2 A G 5: 120,887,667 (GRCm39) S58P probably damaging Het
Or1j11 A T 2: 36,312,308 (GRCm39) R299S probably benign Het
Or5b124 G A 19: 13,610,801 (GRCm39) E109K probably damaging Het
Or8b36 T A 9: 37,937,479 (GRCm39) C126S probably damaging Het
Psma8 T C 18: 14,854,231 (GRCm39) I37T possibly damaging Het
Ryr3 T C 2: 112,483,447 (GRCm39) E4100G possibly damaging Het
Serpina3g C T 12: 104,204,182 (GRCm39) probably benign Het
Serpina3m A T 12: 104,357,874 (GRCm39) Y266F probably damaging Het
Sez6l2 T A 7: 126,559,023 (GRCm39) D423E probably damaging Het
Sh3gl2 A G 4: 85,299,688 (GRCm39) E224G possibly damaging Het
Sh3pxd2a A G 19: 47,353,146 (GRCm39) V105A possibly damaging Het
Slc24a2 A T 4: 87,146,099 (GRCm39) probably benign Het
Smyd2 A G 1: 189,614,349 (GRCm39) M393T probably benign Het
Sox8 C A 17: 25,787,879 (GRCm39) G190V probably benign Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Het
Stk35 C A 2: 129,643,436 (GRCm39) T140K probably damaging Het
Taf6 A C 5: 138,179,463 (GRCm39) probably benign Het
Ten1 A C 11: 116,095,823 (GRCm39) probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ttn A G 2: 76,544,044 (GRCm39) F32981L probably damaging Het
Zik1 G T 7: 10,224,893 (GRCm39) T68K probably benign Het
Zzef1 T A 11: 72,815,485 (GRCm39) I2935N 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
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'- AGATTGTCAACAAGGCTTCCTGG -3'
(R):5'- TCCCGTCACTTAAGAGGCAG -3'

Sequencing Primer
(F):5'- CAACAAGGCTTCCTGGGAACG -3'
(R):5'- GGCAGGGGCATCACTCATTATATC -3'
Posted On 2015-07-21