Incidental Mutation 'R7405:Polr3b'
ID 574523
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 045376-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7405 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 84458156-84563042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84520043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 653 (D653G)
Ref Sequence ENSEMBL: ENSMUSP00000076418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077175]
AlphaFold P59470
Predicted Effect probably benign
Transcript: ENSMUST00000077175
AA Change: D653G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: D653G

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,220,649 (GRCm39) V383L probably damaging Het
4930507D05Rik C A 10: 62,285,563 (GRCm39) H96N unknown Het
5730480H06Rik T C 5: 48,545,458 (GRCm39) I235T possibly damaging Het
Abcb11 A G 2: 69,117,963 (GRCm39) Y472H probably damaging Het
Adam39 A T 8: 41,277,659 (GRCm39) I17L probably benign Het
Aire T C 10: 77,870,447 (GRCm39) H458R probably benign Het
Ap3d1 T C 10: 80,577,734 (GRCm39) D31G probably benign Het
Atad2b T A 12: 4,993,232 (GRCm39) H250Q probably benign Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Borcs5 C A 6: 134,662,945 (GRCm39) T74N probably benign Het
Btbd16 C T 7: 130,407,586 (GRCm39) T292I probably benign Het
Catsperd G A 17: 56,939,335 (GRCm39) V55M possibly damaging Het
Cfap107 T C 4: 144,146,323 (GRCm39) N110S probably damaging Het
Ctr9 T C 7: 110,642,921 (GRCm39) F462S possibly damaging Het
Cyp4f39 A G 17: 32,700,789 (GRCm39) S153G probably benign Het
Ddo T C 10: 40,523,993 (GRCm39) C328R possibly damaging Het
Ddr1 A G 17: 36,000,992 (GRCm39) V251A probably damaging Het
Dis3l A G 9: 64,221,986 (GRCm39) F475L probably damaging Het
Dkk4 G A 8: 23,115,859 (GRCm39) V99M probably benign Het
Dync1h1 C T 12: 110,600,654 (GRCm39) A1938V probably damaging Het
Ecel1 A T 1: 87,081,238 (GRCm39) probably null Het
Fbxo7 T A 10: 85,880,445 (GRCm39) Y377N probably damaging Het
Fbxw24 T C 9: 109,436,136 (GRCm39) I299V possibly damaging Het
Fkbp10 C T 11: 100,306,707 (GRCm39) A33V probably damaging Het
Gabra1 T C 11: 42,045,850 (GRCm39) T87A probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Golga3 A T 5: 110,356,312 (GRCm39) I1000F probably damaging Het
Grid2ip T C 5: 143,366,199 (GRCm39) I563T probably benign Het
Gsx1 T C 5: 147,125,943 (GRCm39) S82P possibly damaging Het
Heg1 A G 16: 33,583,819 (GRCm39) K34E possibly damaging Het
Kank1 T A 19: 25,387,683 (GRCm39) L452* probably null Het
Lce1k A T 3: 92,714,181 (GRCm39) M1K probably null Het
Lcmt2 A G 2: 120,969,868 (GRCm39) I185T probably benign Het
Lrp1 T C 10: 127,417,620 (GRCm39) D1046G possibly damaging Het
Lrrc37 A T 11: 103,505,987 (GRCm39) Y1994N probably benign Het
Mast3 A T 8: 71,238,815 (GRCm39) D496E probably damaging Het
Mst1r C T 9: 107,792,321 (GRCm39) S925F possibly damaging Het
Mterf2 C T 10: 84,956,360 (GRCm39) G88D probably damaging Het
Mthfd1 T C 12: 76,358,648 (GRCm39) V783A probably damaging Het
Mybpc2 A T 7: 44,156,618 (GRCm39) W778R probably damaging Het
Nbea A G 3: 55,712,687 (GRCm39) L2130P possibly damaging Het
Ndst4 A G 3: 125,476,865 (GRCm39) N30S probably benign Het
Nphs1 T C 7: 30,162,253 (GRCm39) V299A possibly damaging Het
Nup107 T C 10: 117,606,320 (GRCm39) D474G probably benign Het
Or10ag56 A C 2: 87,139,339 (GRCm39) I89L probably benign Het
Or10w1 T C 19: 13,632,246 (GRCm39) V151A probably benign Het
Or2w25 T A 11: 59,504,899 (GRCm39) F370I possibly damaging Het
Or7a42 T C 10: 78,791,531 (GRCm39) V164A probably benign Het
Pgap2 T C 7: 101,880,595 (GRCm39) V41A probably benign Het
Plekhh1 C T 12: 79,101,821 (GRCm39) T297I probably benign Het
Plxna4 A T 6: 32,173,254 (GRCm39) Y1226N probably benign Het
Ppp2r2c T C 5: 37,104,486 (GRCm39) F289L possibly damaging Het
Prickle2 A G 6: 92,435,524 (GRCm39) S82P probably damaging Het
Ptger2 T A 14: 45,226,531 (GRCm39) V37D probably damaging Het
Rasa2 G A 9: 96,448,080 (GRCm39) P526S probably benign Het
Rbm47 A T 5: 66,183,838 (GRCm39) I255N probably damaging Het
Sez6 A T 11: 77,853,717 (GRCm39) T296S probably benign Het
Slc2a9 T A 5: 38,549,167 (GRCm39) I316F probably damaging Het
Slc41a1 T A 1: 131,766,884 (GRCm39) V134D probably damaging Het
Slc5a7 A T 17: 54,604,161 (GRCm39) S2T probably benign Het
Slc9a4 C T 1: 40,640,086 (GRCm39) R293C probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Suco A G 1: 161,655,783 (GRCm39) F1039L possibly damaging Het
Sycp1 A G 3: 102,832,543 (GRCm39) Y208H possibly damaging Het
Tpr T C 1: 150,317,878 (GRCm39) S2129P probably benign Het
Trim34b T A 7: 103,985,690 (GRCm39) S442T probably damaging Het
Ttn A T 2: 76,573,690 (GRCm39) Y25734* probably null Het
Uchl5 C T 1: 143,675,752 (GRCm39) Q276* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Yeats2 T A 16: 20,041,663 (GRCm39) D1184E probably damaging Het
Zfat G A 15: 68,056,334 (GRCm39) R241W probably damaging Het
Zfp646 T A 7: 127,477,968 (GRCm39) Y48* probably null Het
Zfp998 T C 13: 66,579,118 (GRCm39) Q455R unknown 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
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
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'- GGTAGCATATGTGGTGATAATGCTC -3'
(R):5'- TACAGGCTTTCTCCATGCAGC -3'

Sequencing Primer
(F):5'- TTCACATAACAGTTCAAACTCTCTC -3'
(R):5'- GGCTTTCTCCATGCAGCTTAGAAG -3'
Posted On 2019-09-13