Incidental Mutation 'R5302:Polr3b'
ID 500901
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 042885-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5302 (G1)
Quality Score 213
Status Not validated
Chromosome 10
Chromosomal Location 84458156-84563042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84535264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 858 (Y858H)
Ref Sequence ENSEMBL: ENSMUSP00000076418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077175]
AlphaFold P59470
Predicted Effect possibly damaging
Transcript: ENSMUST00000077175
AA Change: Y858H

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: Y858H

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,323,111 (GRCm39) V1657A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Acot5 A G 12: 84,120,215 (GRCm39) Y190C probably damaging Het
Ascc3 T A 10: 50,583,873 (GRCm39) Y941N probably benign Het
BC035947 A T 1: 78,488,599 (GRCm39) M1K probably null Het
C2cd5 A G 6: 143,019,482 (GRCm39) C278R probably benign Het
Cd200r1 G T 16: 44,613,172 (GRCm39) L259F possibly damaging Het
Clcn4 A G 7: 7,297,050 (GRCm39) V136A possibly damaging Het
Cntnap5a T C 1: 116,085,300 (GRCm39) S413P probably benign Het
Corin T A 5: 72,473,441 (GRCm39) E748D probably benign Het
Crtc2 G T 3: 90,168,325 (GRCm39) G356V probably damaging Het
D1Pas1 T A 1: 186,701,642 (GRCm39) Y524N probably damaging Het
Dlgap4 T C 2: 156,602,818 (GRCm39) S147P probably damaging Het
Eif1ad16 T A 12: 87,985,316 (GRCm39) I76F probably damaging Het
Enpp1 A T 10: 24,527,288 (GRCm39) I633N probably benign Het
Gm3095 A G 14: 15,170,367 (GRCm39) D72G probably null Het
Gm5449 C T 13: 53,679,787 (GRCm39) noncoding transcript Het
Gpx7 T C 4: 108,258,111 (GRCm39) T161A probably benign Het
Grip1 T C 10: 119,855,982 (GRCm39) L236P probably damaging Het
H2-Q2 G T 17: 35,563,885 (GRCm39) R255S probably damaging Het
Il17rc G T 6: 113,459,997 (GRCm39) A648S possibly damaging Het
Klhl12 A G 1: 134,417,189 (GRCm39) E540G possibly damaging Het
Mcm10 T C 2: 5,012,181 (GRCm39) I135V probably benign Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Nid2 A G 14: 19,829,769 (GRCm39) T687A probably benign Het
Npas3 A T 12: 54,115,619 (GRCm39) D829V probably damaging Het
Ocln T C 13: 100,642,807 (GRCm39) D176G probably damaging Het
Or11h6 A G 14: 50,879,776 (GRCm39) probably null Het
Pax3 A C 1: 78,098,249 (GRCm39) M380R possibly damaging Het
Pcdha3 A G 18: 37,081,208 (GRCm39) E650G probably damaging Het
Pdcd11 C A 19: 47,096,083 (GRCm39) H668N probably damaging Het
Pus10 T C 11: 23,617,416 (GRCm39) probably null Het
Raver1 T C 9: 20,986,677 (GRCm39) D739G probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc26a11 T C 11: 119,254,276 (GRCm39) L198P probably damaging Het
Slc44a3 A G 3: 121,303,962 (GRCm39) V258A probably damaging Het
Socs7 T A 11: 97,280,025 (GRCm39) I524N probably damaging Het
Steap4 T A 5: 8,025,547 (GRCm39) L36* probably null Het
Svep1 G C 4: 58,096,183 (GRCm39) T1479S possibly damaging Het
Ttn C A 2: 76,547,619 (GRCm39) V32184F probably damaging Het
Vmn1r22 T C 6: 57,877,960 (GRCm39) N6D 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
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'- CTCTCAGAGCATCGGTTAATGTTG -3'
(R):5'- GCTTGCAACACTTGGAGTTCC -3'

Sequencing Primer
(F):5'- CACTATGTCTGCCTCGTAATAAATG -3'
(R):5'- CACTCACCCTTTTGTCCATGG -3'
Posted On 2017-12-01