Incidental Mutation 'R3921:Polr2b'
ID 315732
Institutional Source Beutler Lab
Gene Symbol Polr2b
Ensembl Gene ENSMUSG00000029250
Gene Name polymerase (RNA) II (DNA directed) polypeptide B
Synonyms RPB2
MMRRC Submission 040818-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R3921 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 77458331-77497175 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77474500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 446 (Y446H)
Ref Sequence ENSEMBL: ENSMUSP00000031167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031167]
AlphaFold Q8CFI7
Predicted Effect probably damaging
Transcript: ENSMUST00000031167
AA Change: Y446H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250
AA Change: Y446H

DomainStartEndE-ValueType
low complexity region 1 16 N/A INTRINSIC
Pfam:RNA_pol_Rpb2_1 38 442 2.5e-69 PFAM
Pfam:RNA_pol_Rpb2_2 201 394 3.7e-57 PFAM
Pfam:RNA_pol_Rpb2_3 468 532 6.1e-25 PFAM
Pfam:RNA_pol_Rpb2_4 567 629 7.4e-27 PFAM
Pfam:RNA_pol_Rpb2_5 653 700 1.6e-22 PFAM
Pfam:RNA_pol_Rpb2_6 707 1080 4.5e-129 PFAM
Pfam:RNA_pol_Rpb2_7 1082 1174 3.3e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132134
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,498 (GRCm39) L317Q probably damaging Het
Aebp2 C T 6: 140,579,461 (GRCm39) R11C probably damaging Het
Anxa8 T C 14: 33,816,403 (GRCm39) F201L probably damaging Het
Armh4 A G 14: 50,011,659 (GRCm39) F16S probably benign Het
Bcl7a A G 5: 123,509,136 (GRCm39) N206S probably benign Het
Birc6 A G 17: 74,934,014 (GRCm39) N2542D probably damaging Het
Cubn A G 2: 13,331,488 (GRCm39) Y2562H probably damaging Het
Dnah12 C G 14: 26,493,008 (GRCm39) D1256E probably damaging Het
Dnajb14 A T 3: 137,610,613 (GRCm39) R280S probably damaging Het
Dop1a A T 9: 86,402,324 (GRCm39) I1173F probably benign Het
Fam228a T C 12: 4,781,506 (GRCm39) T118A probably benign Het
Gata2 TGCCATGGGCTAGGCAAGCC TGCC 6: 88,182,464 (GRCm39) probably null Het
Hif3a T C 7: 16,771,097 (GRCm39) D618G possibly damaging Het
Ighv1-43 C A 12: 114,909,772 (GRCm39) G50V probably benign Het
Lrrc37a G T 11: 103,392,296 (GRCm39) T1043N probably benign Het
Masp2 T A 4: 148,690,188 (GRCm39) D232E possibly damaging Het
Ms4a4a A C 19: 11,356,172 (GRCm39) Q19P probably benign Het
Nckipsd A G 9: 108,691,275 (GRCm39) E399G possibly damaging Het
Nnt T A 13: 119,503,030 (GRCm39) T572S probably damaging Het
Olig3 A G 10: 19,232,423 (GRCm39) D16G probably damaging Het
Or4a74 C T 2: 89,439,853 (GRCm39) V198I probably benign Het
Or5p57 T A 7: 107,665,108 (GRCm39) D299V possibly damaging Het
Prtg T C 9: 72,755,629 (GRCm39) V277A probably damaging Het
Rnf31 T C 14: 55,838,599 (GRCm39) Y857H probably damaging Het
Serac1 T C 17: 6,117,067 (GRCm39) D163G probably damaging Het
Slc22a22 C A 15: 57,119,940 (GRCm39) V197F probably benign Het
Slc2a10 C T 2: 165,357,521 (GRCm39) P394S probably benign Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
St7 A G 6: 17,846,244 (GRCm39) N120D probably benign Het
Sult2a6 C T 7: 13,988,668 (GRCm39) V31M possibly damaging Het
Taf3 T C 2: 10,053,109 (GRCm39) T35A probably benign Het
Tmem131l A G 3: 83,847,908 (GRCm39) I319T possibly damaging Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttc23l T TTGGATG 15: 10,537,649 (GRCm39) probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Vmn2r9 T G 5: 108,996,921 (GRCm39) Y116S probably benign Het
Vstm2l A G 2: 157,777,283 (GRCm39) T54A probably benign Het
Xrn1 T A 9: 95,851,337 (GRCm39) M153K probably benign Het
Zfp106 G A 2: 120,364,097 (GRCm39) P770L probably damaging Het
Other mutations in Polr2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02026:Polr2b APN 5 77,480,099 (GRCm39) missense probably benign
IGL02069:Polr2b APN 5 77,491,044 (GRCm39) missense probably benign 0.01
IGL03218:Polr2b APN 5 77,463,764 (GRCm39) missense probably benign 0.03
R0007:Polr2b UTSW 5 77,488,284 (GRCm39) missense probably benign 0.02
R0056:Polr2b UTSW 5 77,482,382 (GRCm39) missense possibly damaging 0.55
R0076:Polr2b UTSW 5 77,474,408 (GRCm39) missense possibly damaging 0.78
R0099:Polr2b UTSW 5 77,468,797 (GRCm39) splice site probably benign
R0114:Polr2b UTSW 5 77,491,110 (GRCm39) missense probably damaging 1.00
R0193:Polr2b UTSW 5 77,467,923 (GRCm39) missense probably damaging 1.00
R0481:Polr2b UTSW 5 77,479,929 (GRCm39) missense possibly damaging 0.90
R0607:Polr2b UTSW 5 77,461,006 (GRCm39) unclassified probably benign
R1233:Polr2b UTSW 5 77,482,412 (GRCm39) missense probably benign
R1597:Polr2b UTSW 5 77,473,948 (GRCm39) missense probably damaging 1.00
R1674:Polr2b UTSW 5 77,474,470 (GRCm39) missense possibly damaging 0.83
R1696:Polr2b UTSW 5 77,490,495 (GRCm39) missense probably benign 0.12
R1704:Polr2b UTSW 5 77,490,407 (GRCm39) missense possibly damaging 0.95
R1871:Polr2b UTSW 5 77,474,374 (GRCm39) splice site probably benign
R2114:Polr2b UTSW 5 77,468,817 (GRCm39) missense probably damaging 1.00
R2137:Polr2b UTSW 5 77,468,193 (GRCm39) missense probably benign 0.18
R2305:Polr2b UTSW 5 77,468,284 (GRCm39) splice site probably benign
R4027:Polr2b UTSW 5 77,496,252 (GRCm39) missense possibly damaging 0.88
R4031:Polr2b UTSW 5 77,496,252 (GRCm39) missense possibly damaging 0.88
R4526:Polr2b UTSW 5 77,474,561 (GRCm39) missense probably damaging 1.00
R4750:Polr2b UTSW 5 77,479,886 (GRCm39) missense possibly damaging 0.92
R4827:Polr2b UTSW 5 77,490,398 (GRCm39) missense probably benign
R5244:Polr2b UTSW 5 77,490,847 (GRCm39) intron probably benign
R5360:Polr2b UTSW 5 77,496,993 (GRCm39) missense possibly damaging 0.90
R5628:Polr2b UTSW 5 77,461,063 (GRCm39) missense probably damaging 0.98
R5928:Polr2b UTSW 5 77,493,189 (GRCm39) missense probably damaging 1.00
R6009:Polr2b UTSW 5 77,468,099 (GRCm39) missense probably benign
R6179:Polr2b UTSW 5 77,468,824 (GRCm39) missense probably damaging 1.00
R6251:Polr2b UTSW 5 77,496,141 (GRCm39) missense probably benign 0.00
R7209:Polr2b UTSW 5 77,491,026 (GRCm39) missense probably damaging 1.00
R7303:Polr2b UTSW 5 77,468,868 (GRCm39) missense probably benign 0.04
R7328:Polr2b UTSW 5 77,463,846 (GRCm39) missense probably damaging 1.00
R7345:Polr2b UTSW 5 77,496,966 (GRCm39) missense possibly damaging 0.55
R7471:Polr2b UTSW 5 77,468,913 (GRCm39) nonsense probably null
R7581:Polr2b UTSW 5 77,474,551 (GRCm39) missense probably damaging 1.00
R7697:Polr2b UTSW 5 77,468,059 (GRCm39) missense probably damaging 1.00
R7699:Polr2b UTSW 5 77,488,268 (GRCm39) missense probably benign 0.00
R7700:Polr2b UTSW 5 77,488,268 (GRCm39) missense probably benign 0.00
R7956:Polr2b UTSW 5 77,468,092 (GRCm39) missense probably benign 0.35
R7995:Polr2b UTSW 5 77,473,614 (GRCm39) missense possibly damaging 0.96
R8015:Polr2b UTSW 5 77,484,353 (GRCm39) missense probably damaging 1.00
R8247:Polr2b UTSW 5 77,468,062 (GRCm39) missense possibly damaging 0.94
R8318:Polr2b UTSW 5 77,483,576 (GRCm39) missense probably benign 0.00
R8686:Polr2b UTSW 5 77,483,510 (GRCm39) missense probably damaging 1.00
R8850:Polr2b UTSW 5 77,463,761 (GRCm39) missense probably benign 0.00
R9253:Polr2b UTSW 5 77,493,224 (GRCm39) missense probably benign 0.16
R9275:Polr2b UTSW 5 77,471,485 (GRCm39) missense probably damaging 1.00
R9278:Polr2b UTSW 5 77,471,485 (GRCm39) missense probably damaging 1.00
X0054:Polr2b UTSW 5 77,496,152 (GRCm39) missense probably damaging 0.97
Z1088:Polr2b UTSW 5 77,493,248 (GRCm39) missense probably damaging 1.00
Z1088:Polr2b UTSW 5 77,490,569 (GRCm39) missense possibly damaging 0.95
Z1176:Polr2b UTSW 5 77,479,818 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATCACTGTGTGGCCTTG -3'
(R):5'- TTACATCTGGTCAAGCAAAACC -3'

Sequencing Primer
(F):5'- ATGGTATCATCTCTGCTGAAGATGC -3'
(R):5'- TCTGGTCAAGCAAAACCAAACC -3'
Posted On 2015-05-15