Incidental Mutation 'R3401:Polr3b'
ID 259196
Institutional Source Beutler Lab
Gene Symbol Polr3b
Ensembl Gene ENSMUSG00000034453
Gene Name polymerase (RNA) III (DNA directed) polypeptide B
Synonyms 2700078H01Rik, RPC2, A330032P03Rik
MMRRC Submission 040620-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3401 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 84458156-84563042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84535355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 888 (T888M)
Ref Sequence ENSEMBL: ENSMUSP00000076418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077175]
AlphaFold P59470
Predicted Effect probably damaging
Transcript: ENSMUST00000077175
AA Change: T888M

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: T888M

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpb2_1 38 413 2e-55 PFAM
Pfam:RNA_pol_Rpb2_2 185 363 8.4e-29 PFAM
Pfam:RNA_pol_Rpb2_3 438 502 2.6e-22 PFAM
Pfam:RNA_pol_Rpb2_4 539 600 1e-29 PFAM
Pfam:RNA_pol_Rpb2_5 621 661 6.5e-14 PFAM
Pfam:RNA_pol_Rpb2_6 668 1041 5.8e-129 PFAM
Pfam:RNA_pol_Rpb2_7 1043 1129 7.6e-36 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (30/30)
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 III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI

All alleles(48) : Targeted, other(2) Gene trapped(46)

Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B3gat1 C A 9: 26,667,149 (GRCm39) T127K probably damaging Het
Cactin G A 10: 81,161,709 (GRCm39) R747H probably benign Het
Cul5 A T 9: 53,532,512 (GRCm39) M747K probably benign Het
Dennd4c C T 4: 86,692,780 (GRCm39) P97S probably damaging Het
Dnah3 A G 7: 119,566,879 (GRCm39) V2449A probably benign Het
Eif1ad T C 19: 5,418,276 (GRCm39) V20A probably benign Het
Faim2 C T 15: 99,418,229 (GRCm39) V119I probably damaging Het
Fli1 G A 9: 32,372,570 (GRCm39) S156L probably damaging Het
Gucy1a2 T A 9: 3,635,154 (GRCm39) D399E probably benign Het
Hip1r A G 5: 124,135,046 (GRCm39) E394G probably damaging Het
Htr2a T C 14: 74,882,499 (GRCm39) S162P probably damaging Het
Naip5 G A 13: 100,358,411 (GRCm39) Q942* probably null Het
Ndrg3 C T 2: 156,790,208 (GRCm39) V92M probably damaging Het
Nlrp4d A T 7: 10,096,781 (GRCm39) N906K probably damaging Het
Pkd2 A G 5: 104,628,193 (GRCm39) I422M possibly damaging Het
Ppp1r37 C T 7: 19,266,712 (GRCm39) A392T probably damaging Het
Ralgapa1 T C 12: 55,705,922 (GRCm39) T2323A possibly damaging Het
Sntg2 A G 12: 30,338,171 (GRCm39) probably benign Het
Stard9 A G 2: 120,534,170 (GRCm39) I3476V probably damaging Het
Tead2 T A 7: 44,873,097 (GRCm39) probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tmem74 C T 15: 43,730,417 (GRCm39) V209M probably damaging Het
Trim25 T C 11: 88,901,707 (GRCm39) M334T probably benign Het
Uprt A G X: 103,549,864 (GRCm39) D310G probably damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Zfp157 T A 5: 138,455,273 (GRCm39) N490K probably benign Het
Zhx1 T C 15: 57,917,745 (GRCm39) E167G probably benign Het
Other mutations in Polr3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Polr3b APN 10 84,512,854 (GRCm39) missense probably benign
IGL00848:Polr3b APN 10 84,516,241 (GRCm39) missense probably damaging 1.00
IGL00901:Polr3b APN 10 84,467,660 (GRCm39) missense possibly damaging 0.94
IGL01313:Polr3b APN 10 84,561,607 (GRCm39) missense probably damaging 1.00
IGL01364:Polr3b APN 10 84,531,533 (GRCm39) missense probably benign 0.00
IGL01731:Polr3b APN 10 84,467,704 (GRCm39) nonsense probably null
IGL03326:Polr3b APN 10 84,503,259 (GRCm39) missense probably benign 0.43
IGL03369:Polr3b APN 10 84,512,816 (GRCm39) missense probably damaging 1.00
etruscan UTSW 10 84,468,402 (GRCm39) missense probably benign 0.00
pennyweight UTSW 10 84,549,496 (GRCm39) missense probably damaging 1.00
pinhead UTSW 10 84,491,855 (GRCm39) missense probably damaging 1.00
G5538:Polr3b UTSW 10 84,467,658 (GRCm39) missense probably benign 0.21
PIT4382001:Polr3b UTSW 10 84,520,049 (GRCm39) missense probably damaging 1.00
R0180:Polr3b UTSW 10 84,458,379 (GRCm39) missense probably benign
R0270:Polr3b UTSW 10 84,554,339 (GRCm39) missense probably benign 0.02
R0541:Polr3b UTSW 10 84,473,928 (GRCm39) missense probably damaging 1.00
R0890:Polr3b UTSW 10 84,550,200 (GRCm39) missense probably benign 0.01
R1302:Polr3b UTSW 10 84,468,350 (GRCm39) missense probably damaging 0.97
R1511:Polr3b UTSW 10 84,516,249 (GRCm39) missense probably benign
R1561:Polr3b UTSW 10 84,470,776 (GRCm39) missense probably damaging 1.00
R1607:Polr3b UTSW 10 84,488,647 (GRCm39) missense probably benign 0.00
R1624:Polr3b UTSW 10 84,515,669 (GRCm39) missense probably damaging 0.98
R1809:Polr3b UTSW 10 84,528,865 (GRCm39) missense probably damaging 1.00
R1830:Polr3b UTSW 10 84,528,786 (GRCm39) nonsense probably null
R2973:Polr3b UTSW 10 84,464,144 (GRCm39) missense probably benign 0.00
R3876:Polr3b UTSW 10 84,556,382 (GRCm39) critical splice donor site probably null
R3961:Polr3b UTSW 10 84,520,166 (GRCm39) missense possibly damaging 0.89
R4664:Polr3b UTSW 10 84,550,233 (GRCm39) missense probably damaging 1.00
R4721:Polr3b UTSW 10 84,491,867 (GRCm39) missense possibly damaging 0.56
R4972:Polr3b UTSW 10 84,473,988 (GRCm39) missense probably damaging 1.00
R5065:Polr3b UTSW 10 84,468,402 (GRCm39) missense probably benign 0.00
R5264:Polr3b UTSW 10 84,503,280 (GRCm39) missense probably benign 0.02
R5302:Polr3b UTSW 10 84,535,264 (GRCm39) missense possibly damaging 0.59
R5795:Polr3b UTSW 10 84,464,116 (GRCm39) missense probably benign
R5795:Polr3b UTSW 10 84,512,875 (GRCm39) missense probably damaging 0.97
R5838:Polr3b UTSW 10 84,510,454 (GRCm39) missense probably benign 0.09
R6419:Polr3b UTSW 10 84,473,975 (GRCm39) missense possibly damaging 0.78
R6568:Polr3b UTSW 10 84,470,767 (GRCm39) missense probably damaging 1.00
R6787:Polr3b UTSW 10 84,464,489 (GRCm39) critical splice acceptor site probably null
R6913:Polr3b UTSW 10 84,549,496 (GRCm39) missense probably damaging 1.00
R7405:Polr3b UTSW 10 84,520,043 (GRCm39) missense probably benign
R7456:Polr3b UTSW 10 84,458,355 (GRCm39) missense probably benign
R7657:Polr3b UTSW 10 84,491,855 (GRCm39) missense probably damaging 1.00
R8074:Polr3b UTSW 10 84,549,523 (GRCm39) missense probably damaging 1.00
R8082:Polr3b UTSW 10 84,491,927 (GRCm39) missense probably damaging 1.00
R8127:Polr3b UTSW 10 84,515,653 (GRCm39) missense probably benign
R8676:Polr3b UTSW 10 84,516,251 (GRCm39) missense probably benign 0.00
R8744:Polr3b UTSW 10 84,464,488 (GRCm39) splice site probably benign
R8797:Polr3b UTSW 10 84,532,879 (GRCm39) nonsense probably null
R8866:Polr3b UTSW 10 84,531,555 (GRCm39) missense probably benign 0.14
R9006:Polr3b UTSW 10 84,467,697 (GRCm39) missense probably benign 0.05
R9397:Polr3b UTSW 10 84,467,653 (GRCm39) missense possibly damaging 0.93
R9509:Polr3b UTSW 10 84,467,650 (GRCm39) missense probably damaging 1.00
X0066:Polr3b UTSW 10 84,549,559 (GRCm39) missense probably damaging 0.97
Z1177:Polr3b UTSW 10 84,550,157 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGATTGAAGAGCGTATGCC -3'
(R):5'- AGCACGTGCCTTTCCTAAGAAG -3'

Sequencing Primer
(F):5'- TATGCCATACAGTGACAGCGTGAC -3'
(R):5'- CGATGTATAATTCTGGGCACAG -3'
Posted On 2015-01-23