Mutagenetix > Incidental Mutations

Incidental Mutation 'R8797:Polr3b'

671319

Institutional Source

Beutler Lab

Gene Symbol

Polr3b

Ensembl Gene

ENSMUSG00000034453

Gene Name

polymerase (RNA) III (DNA directed) polypeptide B

Synonyms

RPC2, A330032P03Rik, 2700078H01Rik

MMRRC Submission

Accession Numbers

Genbank: NM_027423

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84622292-84727178 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 84697015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 840 (L840*)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077175]

AlphaFold

P59470

Predicted Effect

probably null
Transcript: ENSMUST00000077175
AA Change: L840*

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: L840*

Domain	Start	End	E-Value	Type
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: 99.9%
20x: 99.6%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	C	1: 105,750,396	S1149P	possibly damaging	Het
Acsm5	C	A	7: 119,538,151	P397T	probably damaging	Het
Adamts14	C	T	10: 61,271,002	R113K	probably benign	Het
Baiap2	G	A	11: 120,006,375	V519I	probably benign	Het
Ccna1	C	T	3: 55,045,648	A233T	probably benign	Het
Cdon	T	C	9: 35,478,635	Y862H	probably damaging	Het
Crygc	C	T	1: 65,071,871	A86T	probably benign	Het
Cyb5d2	T	G	11: 72,778,836	N232T	probably benign	Het
Dnah14	C	A	1: 181,637,847	H1193N	probably benign	Het
Dnah17	T	G	11: 118,101,375	E1170A	probably benign	Het
Dnah7b	A	G	1: 46,123,646	Y384C	probably damaging	Het
Fat4	G	A	3: 38,999,129	V4091I	probably benign	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
G6pc2	A	G	2: 69,220,097	Y22C	probably benign	Het
Gpihbp1	A	T	15: 75,597,979	Q181L	possibly damaging	Het
Hhatl	A	T	9: 121,790,899		probably benign	Het
Hist1h2bc	C	T	13: 23,684,569	S113L	probably damaging	Het
Iars	C	A	13: 49,688,262	S75R	probably benign	Het
Igfn1	T	A	1: 135,974,835	I375F	possibly damaging	Het
Itih4	A	G	14: 30,896,572	I647V	probably benign	Het
Jmjd1c	T	A	10: 67,224,837	C703S	probably benign	Het
L3mbtl2	C	T	15: 81,685,414	T619I	possibly damaging	Het
Lct	T	C	1: 128,303,947	T722A	possibly damaging	Het
Meioc	C	T	11: 102,676,860	Q827*	probably null	Het
Meis2	T	C	2: 115,864,505	S386G	probably benign	Het
Mroh8	T	A	2: 157,229,956	D543V	probably damaging	Het
Ms4a13	C	T	19: 11,183,836	R113H	probably benign	Het
Myrfl	T	C	10: 116,777,420	Y826C	probably benign	Het
Nf1	T	C	11: 79,475,885		probably benign	Het
Nrg3	A	C	14: 38,371,286	L542R	probably benign	Het
Olfr1373	T	A	11: 52,145,513	T6S	probably benign	Het
Olfr71	T	C	4: 43,706,455	T38A	probably damaging	Het
Olfr808	T	A	10: 129,767,805	I103K	probably damaging	Het
Pcdh15	A	G	10: 74,584,146	N1212S	probably damaging	Het
Pcsk5	G	A	19: 17,466,108	T1229I	probably benign	Het
Pkd1l3	A	T	8: 109,648,314	H1483L	probably benign	Het
Ppp1r32	T	C	19: 10,478,238	I216V	probably benign	Het
Psd4	A	T	2: 24,397,428	R457S	probably benign	Het
Rgs12	A	G	5: 35,029,571	S194G		Het
Rps3	A	G	7: 99,483,590		probably null	Het
Sgcb	G	T	5: 73,635,693	N255K	probably benign	Het
Sla2	A	G	2: 156,875,879	Y158H	probably damaging	Het
Sla2	G	A	2: 156,875,903	Q150*	probably null	Het
Slc12a2	T	A	18: 57,879,383	Y193N	possibly damaging	Het
Supt16	G	T	14: 52,172,503	T749K	probably damaging	Het
Uqcrc2	A	G	7: 120,640,277	E104G	probably damaging	Het
Vasp	T	C	7: 19,260,638	N251S	unknown	Het
Vmn1r72	A	G	7: 11,670,038	M161T	probably benign	Het
Zc3h18	T	C	8: 122,408,250		probably benign	Het
Zfp981	T	A	4: 146,535,449	L20*	probably null	Het

Other mutations in Polr3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Polr3b	APN	10	84676990	missense	probably benign
IGL00848:Polr3b	APN	10	84680377	missense	probably damaging	1.00
IGL00901:Polr3b	APN	10	84631796	missense	possibly damaging	0.94
IGL01313:Polr3b	APN	10	84725743	missense	probably damaging	1.00
IGL01364:Polr3b	APN	10	84695669	missense	probably benign	0.00
IGL01731:Polr3b	APN	10	84631840	nonsense	probably null
IGL03326:Polr3b	APN	10	84667395	missense	probably benign	0.43
IGL03369:Polr3b	APN	10	84676952	missense	probably damaging	1.00
etruscan	UTSW	10	84632538	missense	probably benign	0.00
pennyweight	UTSW	10	84713632	missense	probably damaging	1.00
pinhead	UTSW	10	84655991	missense	probably damaging	1.00
G5538:Polr3b	UTSW	10	84631794	missense	probably benign	0.21
PIT4382001:Polr3b	UTSW	10	84684185	missense	probably damaging	1.00
R0180:Polr3b	UTSW	10	84622515	missense	probably benign
R0270:Polr3b	UTSW	10	84718475	missense	probably benign	0.02
R0541:Polr3b	UTSW	10	84638064	missense	probably damaging	1.00
R0890:Polr3b	UTSW	10	84714336	missense	probably benign	0.01
R1302:Polr3b	UTSW	10	84632486	missense	probably damaging	0.97
R1511:Polr3b	UTSW	10	84680385	missense	probably benign
R1561:Polr3b	UTSW	10	84634912	missense	probably damaging	1.00
R1607:Polr3b	UTSW	10	84652783	missense	probably benign	0.00
R1624:Polr3b	UTSW	10	84679805	missense	probably damaging	0.98
R1809:Polr3b	UTSW	10	84693001	missense	probably damaging	1.00
R1830:Polr3b	UTSW	10	84692922	nonsense	probably null
R2973:Polr3b	UTSW	10	84628280	missense	probably benign	0.00
R3401:Polr3b	UTSW	10	84699491	missense	probably damaging	0.96
R3876:Polr3b	UTSW	10	84720518	critical splice donor site	probably null
R3961:Polr3b	UTSW	10	84684302	missense	possibly damaging	0.89
R4664:Polr3b	UTSW	10	84714369	missense	probably damaging	1.00
R4721:Polr3b	UTSW	10	84656003	missense	possibly damaging	0.56
R4972:Polr3b	UTSW	10	84638124	missense	probably damaging	1.00
R5065:Polr3b	UTSW	10	84632538	missense	probably benign	0.00
R5264:Polr3b	UTSW	10	84667416	missense	probably benign	0.02
R5302:Polr3b	UTSW	10	84699400	missense	possibly damaging	0.59
R5795:Polr3b	UTSW	10	84628252	missense	probably benign
R5795:Polr3b	UTSW	10	84677011	missense	probably damaging	0.97
R5838:Polr3b	UTSW	10	84674590	missense	probably benign	0.09
R6419:Polr3b	UTSW	10	84638111	missense	possibly damaging	0.78
R6568:Polr3b	UTSW	10	84634903	missense	probably damaging	1.00
R6787:Polr3b	UTSW	10	84628625	critical splice acceptor site	probably null
R6913:Polr3b	UTSW	10	84713632	missense	probably damaging	1.00
R7405:Polr3b	UTSW	10	84684179	missense	probably benign
R7456:Polr3b	UTSW	10	84622491	missense	probably benign
R7657:Polr3b	UTSW	10	84655991	missense	probably damaging	1.00
R8074:Polr3b	UTSW	10	84713659	missense	probably damaging	1.00
R8082:Polr3b	UTSW	10	84656063	missense	probably damaging	1.00
R8127:Polr3b	UTSW	10	84679789	missense	probably benign
R8676:Polr3b	UTSW	10	84680387	missense	probably benign	0.00
R8744:Polr3b	UTSW	10	84628624	splice site	probably benign
R8866:Polr3b	UTSW	10	84695691	missense	probably benign	0.14
R9006:Polr3b	UTSW	10	84631833	missense	probably benign	0.05
R9397:Polr3b	UTSW	10	84631789	missense	possibly damaging	0.93
X0066:Polr3b	UTSW	10	84713695	missense	probably damaging	0.97
Z1177:Polr3b	UTSW	10	84714293	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTGCTGTGTGATCTCCAG -3'
(R):5'- GGTACCCAAAGTTGCTCTTTC -3'

Sequencing Primer
(F):5'- GATCTCCAGTTCTAGTTCATTGGGC -3'
(R):5'- CTAGTTCTTTGGCGTATAAAGACTG -3'

Posted On

2021-04-30