Incidental Mutation 'R5027:Polr1b'
ID 391411
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 042618-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5027 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 128942915-128968514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 128965803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 815 (I815R)
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 possibly damaging
Transcript: ENSMUST00000103205
AA Change: I815R

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: I815R

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 0.4552 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 97% (97/100)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T G 7: 119,911,505 (GRCm39) I1363R probably benign Het
Abcc1 T C 16: 14,221,917 (GRCm39) probably null Het
Adgrf1 T A 17: 43,614,638 (GRCm39) F241I probably damaging Het
Afg3l1 T C 8: 124,216,553 (GRCm39) M264T probably benign Het
Ankle1 T C 8: 71,861,623 (GRCm39) S434P probably damaging Het
Apoe C T 7: 19,430,940 (GRCm39) A101T probably damaging Het
Apol11a G T 15: 77,401,153 (GRCm39) K213N probably damaging Het
Asap2 A G 12: 21,254,082 (GRCm39) M198V probably damaging Het
Atg4b C T 1: 93,714,297 (GRCm39) A360V probably benign Het
B3gnt5 T A 16: 19,588,444 (GRCm39) V221D probably damaging Het
Baz2b A T 2: 59,928,988 (GRCm39) probably benign Het
Cep350 C A 1: 155,809,100 (GRCm39) W492L probably benign Het
Cln6 A G 9: 62,754,375 (GRCm39) Y139C probably damaging Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Cul9 C T 17: 46,811,708 (GRCm39) E2507K probably damaging Het
Dgkz A T 2: 91,775,888 (GRCm39) V125D probably benign Het
Dnah17 T C 11: 117,993,365 (GRCm39) M1127V probably benign Het
Dnajb1 C A 8: 84,336,732 (GRCm39) D67E probably benign Het
Dync1li1 A G 9: 114,542,612 (GRCm39) D258G probably damaging Het
Egflam G T 15: 7,283,125 (GRCm39) P311T probably benign Het
Fbxw11 T A 11: 32,602,811 (GRCm39) probably benign Het
Fn3krp T G 11: 121,320,274 (GRCm39) D206E probably benign Het
Fsip2 A G 2: 82,819,477 (GRCm39) H5070R possibly damaging Het
Gm6605 T C 7: 38,149,683 (GRCm39) noncoding transcript Het
Gna14 C A 19: 16,580,636 (GRCm39) T158K probably benign Het
Gstt2 A T 10: 75,667,726 (GRCm39) I243N probably damaging Het
Haus6 C T 4: 86,523,933 (GRCm39) D50N possibly damaging Het
Hcrtr2 A G 9: 76,230,578 (GRCm39) I70T probably benign Het
Herc1 G A 9: 66,380,811 (GRCm39) V3563I probably benign Het
Herc1 A T 9: 66,411,900 (GRCm39) I4707F probably damaging Het
Hic2 C T 16: 17,076,611 (GRCm39) A480V possibly damaging Het
Hsd17b3 A G 13: 64,210,720 (GRCm39) Y212H probably damaging Het
Hspa5 A G 2: 34,665,827 (GRCm39) K557R probably damaging Het
Iqch T C 9: 63,432,294 (GRCm39) E367G possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lars2 A G 9: 123,270,560 (GRCm39) M551V probably benign Het
Lbp T C 2: 158,150,646 (GRCm39) I57T possibly damaging Het
Liat1 A G 11: 75,891,047 (GRCm39) K54E probably damaging Het
Litaf T C 16: 10,778,868 (GRCm39) Q142R possibly damaging Het
Lpar5 G C 6: 125,059,110 (GRCm39) R277P possibly damaging Het
Muc6 T A 7: 141,216,349 (GRCm39) I2710F probably benign Het
Myo7b T A 18: 32,108,265 (GRCm39) I1199F probably benign Het
Naca A C 10: 127,883,990 (GRCm39) E2140D possibly damaging Het
Nup214 G T 2: 31,881,329 (GRCm39) G396C probably damaging Het
Or2v1 A T 11: 49,025,451 (GRCm39) Q144L probably benign Het
Or5aq7 T A 2: 86,938,150 (GRCm39) I194F probably benign Het
Or5j3 G A 2: 86,128,540 (GRCm39) V127I possibly damaging Het
Or7g33 A G 9: 19,448,573 (GRCm39) Y218H probably damaging Het
Or8b57 A T 9: 40,003,690 (GRCm39) S187T probably damaging Het
P4htm A G 9: 108,456,492 (GRCm39) V436A probably benign Het
Pfkm A G 15: 98,017,307 (GRCm39) I117V possibly damaging Het
Phlpp1 T G 1: 106,209,201 (GRCm39) V518G probably damaging Het
Piwil4 G A 9: 14,621,240 (GRCm39) L598F probably damaging Het
Ppef2 T C 5: 92,382,150 (GRCm39) N515S probably damaging Het
Prp2rt A G 13: 97,235,648 (GRCm39) I33T probably benign Het
Prpsap2 G T 11: 61,631,830 (GRCm39) probably null Het
Rab27a A G 9: 73,002,695 (GRCm39) D208G probably benign Het
Ralgds A G 2: 28,442,102 (GRCm39) probably null Het
Raph1 C A 1: 60,535,436 (GRCm39) C540F probably damaging Het
Rbsn A G 6: 92,175,231 (GRCm39) L281P probably damaging Het
Rigi T A 4: 40,208,845 (GRCm39) M756L probably benign Het
Rmdn1 G T 4: 19,588,533 (GRCm39) G110* probably null Het
Rph3a T A 5: 121,092,512 (GRCm39) E363V possibly damaging Het
Serpina16 G T 12: 103,641,262 (GRCm39) Y154* probably null Het
Sh2d3c G A 2: 32,634,814 (GRCm39) E198K possibly damaging Het
Shank2 C A 7: 143,812,842 (GRCm39) Y663* probably null Het
Sharpin T C 15: 76,234,225 (GRCm39) probably benign Het
Slitrk1 G A 14: 109,149,740 (GRCm39) P324S probably benign Het
Sorbs2 T A 8: 46,199,571 (GRCm39) probably null Het
Spag16 C T 1: 69,962,963 (GRCm39) probably benign Het
Sycp2l A T 13: 41,283,247 (GRCm39) probably null Het
Synj1 A T 16: 90,737,407 (GRCm39) probably null Het
Sytl1 T C 4: 132,983,530 (GRCm39) probably benign Het
Tkfc A T 19: 10,570,023 (GRCm39) probably null Het
Tnn T C 1: 159,972,781 (GRCm39) T274A probably damaging Het
Trav14-2 T A 14: 53,878,505 (GRCm39) W35R probably damaging Het
Trim72 T C 7: 127,607,137 (GRCm39) M222T probably damaging Het
Trim9 A G 12: 70,393,482 (GRCm39) V154A probably damaging Het
Ttc7b T C 12: 100,268,001 (GRCm39) Y266C probably damaging Het
Uchl3 T A 14: 101,903,982 (GRCm39) I43K possibly damaging Het
Vdac1 T A 11: 52,279,305 (GRCm39) N269K possibly damaging Het
Wdr72 T A 9: 74,053,258 (GRCm39) W187R probably damaging Het
Zfp30 T A 7: 29,492,491 (GRCm39) C248* probably null Het
Zfp940 A T 7: 29,550,381 (GRCm39) probably benign Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S 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
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'- AGATTGTCAACAAGGCTTCCTG -3'
(R):5'- TCCCGTCACTTAAGAGGCAG -3'

Sequencing Primer
(F):5'- GTCAACAAGGCTTCCTGGGAAC -3'
(R):5'- GGCAGGGGCATCACTCATTATATC -3'
Posted On 2016-06-06