Incidental Mutation 'R4027:Polr2b'
ID 313026
Institutional Source Beutler Lab
Gene Symbol Polr2b
Ensembl Gene ENSMUSG00000029250
Gene Name polymerase (RNA) II (DNA directed) polypeptide B
Synonyms RPB2
MMRRC Submission 040850-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R4027 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 77458331-77497175 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 77496252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1141 (R1141H)
Ref Sequence ENSEMBL: ENSMUSP00000031167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031167] [ENSMUST00000046746] [ENSMUST00000163898]
AlphaFold Q8CFI7
Predicted Effect possibly damaging
Transcript: ENSMUST00000031167
AA Change: R1141H

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250
AA Change: R1141H

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 probably benign
Transcript: ENSMUST00000046746
SMART Domains Protein: ENSMUSP00000045057
Gene: ENSMUSG00000036256

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IB 30 113 9.23e-19 SMART
KAZAL 110 156 6.39e-12 SMART
IG 166 266 5.53e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163898
SMART Domains Protein: ENSMUSP00000128318
Gene: ENSMUSG00000036256

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IB 30 113 9.23e-19 SMART
KAZAL 110 156 6.39e-12 SMART
IG 197 297 5.53e-6 SMART
Meta Mutation Damage Score 0.2662 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (60/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A G 2: 35,270,408 (GRCm39) F98L probably damaging Het
Adam26b T C 8: 43,973,409 (GRCm39) N531S probably benign Het
Ahdc1 T C 4: 132,791,476 (GRCm39) S906P possibly damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Ano10 A G 9: 122,081,994 (GRCm39) probably benign Het
Atp4a T C 7: 30,424,377 (GRCm39) probably null Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Carmil1 T A 13: 24,251,206 (GRCm39) probably benign Het
Ccl2 A G 11: 81,927,885 (GRCm39) R110G probably benign Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Cog6 A C 3: 52,909,950 (GRCm39) D267E possibly damaging Het
Cyp4f37 G T 17: 32,850,646 (GRCm39) E366D probably benign Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Dpep1 T C 8: 123,920,892 (GRCm39) V24A probably benign Het
Eefsec T C 6: 88,353,232 (GRCm39) I48V probably benign Het
Elmo2 G A 2: 165,136,169 (GRCm39) Q195* probably null Het
Ephb3 A G 16: 21,040,447 (GRCm39) D561G probably damaging Het
Erich2 C A 2: 70,343,134 (GRCm39) probably benign Het
Gatm A G 2: 122,427,927 (GRCm39) V362A probably damaging Het
Gdf10 A G 14: 33,654,572 (GRCm39) M360V probably damaging Het
Gpr141 T C 13: 19,935,995 (GRCm39) N260S probably benign Het
Hectd1 T A 12: 51,849,219 (GRCm39) probably null Het
Insrr A G 3: 87,716,906 (GRCm39) E682G probably benign Het
Itgax A G 7: 127,740,438 (GRCm39) I742V possibly damaging Het
Kcnh1 T C 1: 191,959,007 (GRCm39) V187A probably benign Het
Kdm6b G T 11: 69,297,094 (GRCm39) S419R possibly damaging Het
Kmt2a A T 9: 44,747,990 (GRCm39) probably benign Het
Krt10 A G 11: 99,277,019 (GRCm39) probably benign Het
Lct G A 1: 128,212,918 (GRCm39) R1912C probably benign Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Mast3 A G 8: 71,240,552 (GRCm39) L279P probably damaging Het
Mfsd4b3-ps T C 10: 39,823,343 (GRCm39) T306A probably benign Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mknk1 T A 4: 115,721,758 (GRCm39) F101I probably damaging Het
Mlc1 T C 15: 88,850,697 (GRCm39) I154V probably benign Het
Myo5b T C 18: 74,892,311 (GRCm39) I1685T possibly damaging Het
Nacc2 T A 2: 25,950,348 (GRCm39) M463L probably benign Het
Nek11 A C 9: 105,121,589 (GRCm39) Y443* probably null Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nova1 A G 12: 46,863,801 (GRCm39) probably benign Het
Or52h9 A T 7: 104,202,530 (GRCm39) I135F possibly damaging Het
Parp10 A G 15: 76,125,354 (GRCm39) probably null Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Plce1 T C 19: 38,512,709 (GRCm39) S3P probably damaging Het
Pnldc1 T C 17: 13,109,666 (GRCm39) D400G probably benign Het
Prmt6 A G 3: 110,157,257 (GRCm39) I344T probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Ranbp17 C T 11: 33,450,718 (GRCm39) R73Q possibly damaging Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Tecpr1 C A 5: 144,143,077 (GRCm39) A735S probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ube4a G A 9: 44,861,198 (GRCm39) probably benign Het
Vldlr A G 19: 27,215,713 (GRCm39) T237A probably benign Het
Vmn1r74 C A 7: 11,580,898 (GRCm39) T66K probably damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zmym1 C T 4: 126,943,672 (GRCm39) V239I probably benign Het
Zmym5 T A 14: 57,035,268 (GRCm39) T267S probably benign 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
R3921:Polr2b UTSW 5 77,474,500 (GRCm39) missense probably damaging 1.00
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'- CTTATCAACAGTGATGGTGGCC -3'
(R):5'- CCTTGCAATTTCAGAGATGAATAGC -3'

Sequencing Primer
(F):5'- ATGGTGGCCTGCGCTTC -3'
(R):5'- AGAGATGAATAGCTTAGTGAAATTGC -3'
Posted On 2015-04-30