Incidental Mutation 'R6419:Polr3b'
ID 518015
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 044561-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6419 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 84458156-84563042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84473975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 185 (S185P)
Ref Sequence ENSEMBL: ENSMUSP00000076418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077175]
AlphaFold P59470
Predicted Effect possibly damaging
Transcript: ENSMUST00000077175
AA Change: S185P

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: S185P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213263
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213543
Predicted Effect probably benign
Transcript: ENSMUST00000215853
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 96% (67/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578G10Rik T C 4: 42,812,473 (GRCm39) probably benign Het
Abcc2 T A 19: 43,825,947 (GRCm39) probably null Het
Adamts12 C T 15: 11,215,759 (GRCm39) T260M possibly damaging Het
Adamts20 C T 15: 94,231,556 (GRCm39) V878I possibly damaging Het
Adgrl4 A G 3: 151,144,953 (GRCm39) E34G probably damaging Het
Asah1 A T 8: 41,796,803 (GRCm39) I293N probably damaging Het
Atosa G A 9: 74,916,619 (GRCm39) S413N probably benign Het
B3galt2 A T 1: 143,522,839 (GRCm39) E325V possibly damaging Het
Baz1b T A 5: 135,271,348 (GRCm39) H1310Q probably benign Het
Ccdc125 T A 13: 100,826,834 (GRCm39) N204K probably damaging Het
Cd36 C T 5: 18,002,150 (GRCm39) D284N probably benign Het
Cdh12 T C 15: 21,520,483 (GRCm39) L316S probably damaging Het
Cenpv T C 11: 62,416,008 (GRCm39) K247R probably benign Het
Cldn18 T C 9: 99,574,801 (GRCm39) H257R possibly damaging Het
Cnot8 T A 11: 58,004,891 (GRCm39) Y197N probably damaging Het
Cog3 A T 14: 75,962,178 (GRCm39) C554* probably null Het
Col4a4 A G 1: 82,444,207 (GRCm39) probably null Het
Cops5 G A 1: 10,103,532 (GRCm39) T158I probably damaging Het
Dhh A G 15: 98,792,282 (GRCm39) F242S probably damaging Het
Dot1l T C 10: 80,627,315 (GRCm39) V1512A possibly damaging Het
Dstn T G 2: 143,781,907 (GRCm39) I116S possibly damaging Het
Egfem1 G A 3: 29,711,398 (GRCm39) D326N probably damaging Het
Enpp3 A T 10: 24,684,089 (GRCm39) Y52N probably damaging Het
Gabra2 A G 5: 71,119,426 (GRCm39) S359P probably benign Het
Gbp7 G A 3: 142,252,214 (GRCm39) G599E probably benign Het
Gcat T G 15: 78,920,264 (GRCm39) I198S probably damaging Het
Gm8439 A G 4: 120,466,755 (GRCm39) K82R unknown Het
Grin2b A G 6: 135,717,965 (GRCm39) F709S probably damaging Het
Grm3 T C 5: 9,620,201 (GRCm39) N348D probably damaging Het
Hdgfl1 G A 13: 26,954,075 (GRCm39) probably benign Het
Hmgxb3 G T 18: 61,285,296 (GRCm39) D564E possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Impg1 A G 9: 80,287,300 (GRCm39) V305A probably benign Het
Ints7 T A 1: 191,334,414 (GRCm39) S313T possibly damaging Het
Knl1 T A 2: 118,899,484 (GRCm39) I395K probably benign Het
Lactb2 A T 1: 13,708,459 (GRCm39) Y196* probably null Het
Lad1 T C 1: 135,759,630 (GRCm39) S509P possibly damaging Het
Ltf T C 9: 110,860,090 (GRCm39) F504L possibly damaging Het
Med4 A T 14: 73,751,363 (GRCm39) D104V probably damaging Het
Mrpl58 A T 11: 115,301,073 (GRCm39) N128Y probably damaging Het
Ndufs2 T C 1: 171,068,668 (GRCm39) T54A probably benign Het
Notch2 G T 3: 98,007,705 (GRCm39) probably null Het
Ntng1 A T 3: 109,690,169 (GRCm39) N424K possibly damaging Het
Ntrk2 G A 13: 59,009,113 (GRCm39) W301* probably null Het
Or5b116 T A 19: 13,423,131 (GRCm39) S252T probably benign Het
Otud6b A G 4: 14,822,766 (GRCm39) S113P possibly damaging Het
Pcdhb20 A G 18: 37,638,608 (GRCm39) N378S probably damaging Het
Ptprn G A 1: 75,240,681 (GRCm39) R31C probably benign Het
Rgsl1 C T 1: 153,698,117 (GRCm39) V478M probably damaging Het
Sema6b A T 17: 56,439,784 (GRCm39) L19* probably null Het
Slfn8 A G 11: 82,894,881 (GRCm39) probably null Het
Spen A T 4: 141,203,621 (GRCm39) S1669T unknown Het
Syne2 T C 12: 76,143,740 (GRCm39) F1522L probably damaging Het
Tarbp1 C T 8: 127,185,783 (GRCm39) A470T possibly damaging Het
Tent4a A C 13: 69,658,785 (GRCm39) M350R possibly damaging Het
Tiam1 C A 16: 89,694,912 (GRCm39) E182* probably null Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Trip12 C T 1: 84,771,591 (GRCm39) A186T probably damaging Het
Ufc1 C T 1: 171,116,529 (GRCm39) A147T probably damaging Het
Vmn1r199 A G 13: 22,567,777 (GRCm39) K314R possibly damaging Het
Vmn2r13 A T 5: 109,323,085 (GRCm39) I68K possibly damaging Het
Vmn2r77 A T 7: 86,460,767 (GRCm39) I698F probably damaging Het
Vmn2r86 T C 10: 130,282,795 (GRCm39) K607R probably damaging Het
Vwa3b T C 1: 37,196,457 (GRCm39) V28A probably benign Het
Wdr19 A G 5: 65,373,236 (GRCm39) N166S possibly damaging Het
Wfdc17 G A 11: 83,595,634 (GRCm39) G33R probably damaging Het
Zfp330 T G 8: 83,491,545 (GRCm39) K209N probably benign Het
Zfp493 A G 13: 67,934,526 (GRCm39) T160A probably benign Het
Zfp974 A T 7: 27,610,940 (GRCm39) C262S possibly damaging 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
R3401:Polr3b UTSW 10 84,535,355 (GRCm39) missense probably damaging 0.96
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
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'- GGTTCCTGCAGTGATGATCC -3'
(R):5'- ACACACTGCCTGCTATGGAG -3'

Sequencing Primer
(F):5'- GCAGTGATGATCCTAGGCACTTAC -3'
(R):5'- CTGCCTGCTATGGAGAGAAATACC -3'
Posted On 2018-05-24