Mutagenetix > Incidental Mutation

Incidental Mutation 'R3876:Polr3b'

276852

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

041606-MU

Accession Numbers

Genbank: NM_027423

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84622292-84727178 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 84720518 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 null
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

Meta Mutation Damage Score

0.9502

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (53/53)

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
4931414P19Rik	G	A	14: 54,591,400	R215*	probably null	Het
Brinp2	C	A	1: 158,246,846	L568F	probably damaging	Het
Brip1	T	C	11: 86,152,790	Y316C	probably damaging	Het
Cdk5rap2	ATGTG	ATG	4: 70,289,977		probably null	Het
Cfap69	G	T	5: 5,584,645		probably benign	Het
Chrnb4	T	C	9: 55,043,898	E27G	probably damaging	Het
Clec14a	A	G	12: 58,268,644	V64A	possibly damaging	Het
Crygs	A	G	16: 22,806,512	Y60H	probably damaging	Het
Dpp10	T	A	1: 123,353,487	Q611L	probably damaging	Het
Entpd1	T	C	19: 40,736,820	L450P	probably damaging	Het
Eogt	G	A	6: 97,120,190	S317L	probably damaging	Het
Exosc10	T	A	4: 148,572,919	S584T	probably benign	Het
Fam184a	C	T	10: 53,699,061	V151I	probably damaging	Het
Fbxo43	A	G	15: 36,152,112	V517A	probably damaging	Het
Flii	T	C	11: 60,719,872	T533A	possibly damaging	Het
Frmpd1	T	G	4: 45,284,093	H971Q	probably benign	Het
Gata3	A	T	2: 9,863,143	N333K	probably damaging	Het
Hectd1	A	G	12: 51,768,730	S1525P	probably damaging	Het
Ibtk	A	G	9: 85,718,426	I816T	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt34	T	C	11: 100,040,965	T143A	probably benign	Het
Lipn	G	T	19: 34,069,428	M43I	probably benign	Het
Lrp1b	A	G	2: 41,445,194	C779R	probably damaging	Het
Mios	G	A	6: 8,233,189	R779Q	probably damaging	Het
Mme	A	T	3: 63,362,059		probably benign	Het
Ncstn	A	G	1: 172,070,073	S418P	probably benign	Het
Olfr1209	T	C	2: 88,909,608	T262A	possibly damaging	Het
Olfr1285	T	C	2: 111,408,622	V69A	possibly damaging	Het
Olfr5	G	A	7: 6,481,132	A8V	probably benign	Het
Olfr800	C	T	10: 129,660,274	P156L	probably benign	Het
Olfr934	T	A	9: 38,982,870	Y58F	probably damaging	Het
Oprk1	T	A	1: 5,602,661	C340*	probably null	Het
Pald1	T	A	10: 61,347,487	N323Y	probably damaging	Het
Pcdhac1	C	A	18: 37,091,892	A586E	probably damaging	Het
Pcnx2	C	T	8: 125,888,158	A185T	probably benign	Het
Pik3r1	G	A	13: 101,684,957	H430Y	probably benign	Het
Prl8a6	A	T	13: 27,433,032	L225*	probably null	Het
Psme4	T	C	11: 30,856,068	S89P	probably damaging	Het
Pygl	G	A	12: 70,201,339	T250I	probably damaging	Het
Rgs13	T	A	1: 144,140,790	K72*	probably null	Het
Ryr2	T	A	13: 11,588,159	I4514F	probably damaging	Het
Sept3	A	T	15: 82,285,801	D32V	probably damaging	Het
Sfrp2	C	T	3: 83,767,028	P163S	possibly damaging	Het
Spata31	A	G	13: 64,920,931	T298A	probably benign	Het
Stxbp2	T	C	8: 3,633,369		probably null	Het
Syne1	A	T	10: 5,052,345	M282K	possibly damaging	Het
Timd2	T	C	11: 46,671,020		probably null	Het
Tlr11	G	A	14: 50,363,154	V866I	probably benign	Het
Trappc10	T	C	10: 78,220,186		probably null	Het
Zfp512b	AG	AGG	2: 181,588,763		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
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
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
R9509:Polr3b	UTSW	10	84631786	missense	probably damaging	1.00
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'- ATTTACTTCAAAGGCAGCCCAC -3'
(R):5'- GCTTCAACTACAGCAGTATAAATGC -3'

Sequencing Primer
(F):5'- CCACTGAAGGGCGGTCG -3'
(R):5'- TCAATACACAAATGCCTTCTCATGGG -3'

Posted On

2015-04-06