Mutagenetix > Incidental Mutations

Incidental Mutation 'R8744:Polr3b'

682562

Institutional Source

Beutler Lab

Gene Symbol

Polr3b

Ensembl Gene

ENSMUSG00000034453

Gene Name

polymerase (RNA) III (DNA directed) polypeptide B

Synonyms

RPC2, A330032P03Rik, 2700078H01Rik

Accession Numbers

Genbank: NM_027423

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8744 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84622292-84727178 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 84628624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

probably benign
Transcript: ENSMUST00000077175

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453

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: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

98% (64/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	C	A	11: 58,291,434		probably null	Het
Adam2	A	G	14: 66,034,716		probably null	Het
Akt2	A	T	7: 27,618,313	D94V	probably benign	Het
Anapc7	C	T	5: 122,428,148	S40L	probably benign	Het
Ash1l	G	T	3: 89,058,583	A2431S	possibly damaging	Het
Atoh1	A	T	6: 64,729,918	Q199L	probably damaging	Het
Atp10b	T	C	11: 43,230,350	C947R	probably damaging	Het
Ccdc50	G	A	16: 27,436,398	V199I	possibly damaging	Het
Ccne1	A	T	7: 38,103,173	C65S	probably benign	Het
Cep152	A	G	2: 125,594,871		probably null	Het
Col6a3	C	G	1: 90,767,606		probably benign	Het
Cyp4a10	A	G	4: 115,529,470	D438G	probably benign	Het
Dgkb	A	G	12: 38,438,612	H659R	probably damaging	Het
Dhx29	A	G	13: 112,952,884	I730V	possibly damaging	Het
Dync2h1	G	A	9: 7,011,220	Q3658*	probably null	Het
Eif2ak4	C	A	2: 118,430,993	C671*	probably null	Het
Eif4g3	AGCGGCGGCGGCGGCGGC	AGCGGCGGCGGCGGC	4: 137,994,061		probably benign	Het
Ep400	T	C	5: 110,742,059	H446R	unknown	Het
Epb41l2	C	T	10: 25,441,827	L81F	probably damaging	Het
Ercc8	G	A	13: 108,183,773	A298T	probably benign	Het
Fbxo10	T	C	4: 45,043,880	M648V	probably benign	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Gnpda2	C	T	5: 69,578,116	A211T	probably damaging	Het
Gtf2h5	C	CA	17: 6,084,558		probably null	Het
Hormad1	T	C	3: 95,562,615	Y58H	possibly damaging	Het
Igkv4-81	T	C	6: 68,991,062	I18M	possibly damaging	Het
Itgav	G	T	2: 83,770,083	A312S	probably benign	Het
Itpr1	G	T	6: 108,377,802	A457S	possibly damaging	Het
Kcna10	T	C	3: 107,194,386	L111P	probably damaging	Het
Kcnh7	T	C	2: 63,182,089	R92G	possibly damaging	Het
Lamc2	G	A	1: 153,143,738	P486S	probably benign	Het
Lrba	C	T	3: 86,304,333	T420M	probably benign	Het
Lrrc52	G	A	1: 167,466,581	T45M	probably benign	Het
Lsm8	C	A	6: 18,853,639	A80E	probably benign	Het
Ly6g	T	A	15: 75,155,669	S9T	probably benign	Het
Mcc	A	G	18: 44,724,572	Y159H	probably benign	Het
Megf11	T	C	9: 64,544,688		probably null	Het
Mrpl9	T	A	3: 94,447,775		probably benign	Het
Ndst4	T	C	3: 125,713,340	F210L	possibly damaging	Het
Olfr1168	T	A	2: 88,185,379	C167*	probably null	Het
Olfr1402	A	G	3: 97,410,281	V300A	probably benign	Het
Pappa2	A	G	1: 158,783,917	V1492A	possibly damaging	Het
Pcdhga2	A	G	18: 37,671,320	H739R	probably benign	Het
Pcdhga8	A	G	18: 37,727,774	T628A	probably damaging	Het
Plekhn1	C	T	4: 156,233,907	R86H	probably damaging	Het
Pofut1	T	A	2: 153,259,541	W72R	probably benign	Het
Rab3b	A	T	4: 108,923,987	I104F	probably damaging	Het
Rab5b	A	T	10: 128,682,882	V127D	probably damaging	Het
Rnf170	A	G	8: 26,129,380	M211V	unknown	Het
Rpl7	T	C	1: 16,101,889	T218A	probably benign	Het
Serinc2	T	C	4: 130,265,195		probably benign	Het
Socs2	T	A	10: 95,392,800	Q196L		Het
Stab2	T	C	10: 86,969,349	H255R	probably benign	Het
Syvn1	G	A	19: 6,049,168	G149D	probably damaging	Het
Them5	T	C	3: 94,346,165	S161P	probably damaging	Het
Tlr1	A	T	5: 64,926,530	Y235N	possibly damaging	Het
Toporsl	T	C	4: 52,611,967	L620P	probably benign	Het
Traf3	A	T	12: 111,261,796	E480D	probably benign	Het
Trav13n-4	A	G	14: 53,363,942	Y56C	probably damaging	Het
Trps1	T	C	15: 50,661,246	Y1096C	probably damaging	Het
Usp2	A	G	9: 44,087,213		probably benign	Het
Usp40	A	T	1: 87,983,769	L512Q	probably benign	Het
Vmn1r175	T	C	7: 23,808,978	T75A	probably benign	Het
Zan	A	G	5: 137,427,864	V2550A	unknown	Het
Zfp235	A	T	7: 24,140,499	E114D	possibly damaging	Het
Zmym1	A	T	4: 127,051,372	D141E	probably damaging	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
R8797:Polr3b	UTSW	10	84697015	nonsense	probably null
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'- TTTGAGAAACACTAATGGTTACCTGC -3'
(R):5'- ACTAGACAGATACAGTAGTGGTATTAC -3'

Sequencing Primer
(F):5'- TAATGGTTACCTGCCCCAGAGTG -3'
(R):5'- GTGGTATTACAAGAGATTTGACAGC -3'

Posted On

2021-09-30