Mutagenetix > Incidental Mutation

Incidental Mutation 'R0270:Polr3b'

35241

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

038496-MU

Accession Numbers

Genbank: NM_027423

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0270 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84622292-84727178 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84718475 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1017 (L1017Q)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

probably benign
Transcript: ENSMUST00000077175
AA Change: L1017Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: L1017Q

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

0.1084

Coding Region Coverage

1x: 98.7%
3x: 97.7%
10x: 96.0%
20x: 93.2%

Validation Efficiency

99% (113/114)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,166,176		probably benign	Het
4922502D21Rik	A	T	6: 129,325,608	L152*	probably null	Het
Abcf3	T	A	16: 20,560,168		probably null	Het
Acadm	C	T	3: 153,936,324	M190I	possibly damaging	Het
Adamtsl3	G	A	7: 82,556,824	R739Q	probably damaging	Het
Ank1	T	A	8: 23,088,925		probably benign	Het
Ap3b1	T	A	13: 94,404,118		probably benign	Het
Arhgdib	A	G	6: 136,926,734	V31A	probably damaging	Het
Arid4a	A	G	12: 71,072,632	R342G	probably damaging	Het
Asic3	C	T	5: 24,417,702	L517F	probably benign	Het
Atxn7l1	C	T	12: 33,342,151	P242L	possibly damaging	Het
AY761185	T	A	8: 20,944,600	E37D	possibly damaging	Het
Babam1	T	A	8: 71,398,406	D104E	probably damaging	Het
Batf	A	T	12: 85,708,672	T100S	probably benign	Het
Blcap	A	T	2: 157,557,977	Y59*	probably null	Het
Cacnb3	G	A	15: 98,642,559	A350T	probably damaging	Het
Cdk15	T	A	1: 59,310,806	V319D	probably damaging	Het
Cenpf	T	C	1: 189,650,714	H2661R	probably benign	Het
Cenpq	T	C	17: 40,930,050	E106G	probably damaging	Het
Cfap43	A	G	19: 47,797,203		probably benign	Het
Cfb	G	A	17: 34,860,386	S778L	possibly damaging	Het
Clspn	T	A	4: 126,573,236	N631K	probably damaging	Het
Cntn2	T	A	1: 132,521,724	T660S	probably damaging	Het
Cntrob	T	A	11: 69,311,341	H475L	possibly damaging	Het
Ddx46	T	C	13: 55,674,104	I863T	probably benign	Het
Dnah11	G	A	12: 118,041,013	T2191I	probably damaging	Het
Dock9	T	C	14: 121,575,999	T1703A	probably benign	Het
Fam13c	C	T	10: 70,544,513	P424S	probably benign	Het
Fan1	T	C	7: 64,348,871	N968D	probably benign	Het
Fbxl20	A	T	11: 98,098,503		probably benign	Het
Fkbp1b	A	T	12: 4,838,229		probably benign	Het
G930045G22Rik	T	A	6: 50,847,059		noncoding transcript	Het
Gm28042	C	A	2: 120,041,592	R1008S	probably benign	Het
Gm6614	T	A	6: 141,972,411	I580F	possibly damaging	Het
Gm8298	T	A	3: 59,877,019	N304K	probably benign	Het
Gon4l	G	A	3: 88,858,400	S376N	probably damaging	Het
Gstt3	C	A	10: 75,780,915	R15L	probably damaging	Het
Gtdc1	A	T	2: 44,752,174	S73T	possibly damaging	Het
H2afy	G	A	13: 56,096,114		probably benign	Het
Hhatl	A	G	9: 121,784,720	S419P	probably benign	Het
Hirip3	T	G	7: 126,863,191	S46R	probably damaging	Het
Hsf2	A	G	10: 57,502,639	T204A	probably benign	Het
Impg2	G	A	16: 56,269,015	E1108K	possibly damaging	Het
Itgb2l	G	T	16: 96,422,930		probably benign	Het
Itih5	A	T	2: 10,251,264	N847I	probably benign	Het
Kif1a	T	C	1: 93,054,442		probably benign	Het
Klhl1	T	A	14: 96,518,344		probably benign	Het
Ktn1	T	A	14: 47,714,662	D963E	probably benign	Het
Lclat1	T	A	17: 73,240,027	V313E	probably benign	Het
Lrrn4	T	C	2: 132,870,719	S395G	probably benign	Het
Mbtps1	G	A	8: 119,538,117		probably benign	Het
Me1	A	G	9: 86,596,204		probably benign	Het
Mov10	C	A	3: 104,795,405	C948F	probably benign	Het
Mterf1a	G	A	5: 3,890,990	Q293*	probably null	Het
Nfkb2	A	T	19: 46,311,626	M838L	possibly damaging	Het
Nhlrc2	T	A	19: 56,551,870	L97Q	probably damaging	Het
Nr6a1	A	T	2: 38,739,020	Y331N	possibly damaging	Het
Nup214	C	T	2: 32,034,814	A1785V	probably damaging	Het
Ogg1	C	T	6: 113,329,256	T138I	probably benign	Het
Olfr1461	A	G	19: 13,165,887	Y291C	probably damaging	Het
Olfr1489	A	G	19: 13,633,684	Y191C	probably damaging	Het
Olfr202	A	G	16: 59,283,753	V248A	probably damaging	Het
Olfr829	T	A	9: 18,856,831	Y60N	probably damaging	Het
Plod2	G	T	9: 92,584,521	R178L	probably benign	Het
Postn	C	A	3: 54,384,550	T724N	probably damaging	Het
Ppm1l	T	G	3: 69,317,976		probably benign	Het
Prpf8	T	G	11: 75,505,249	L1983R	probably damaging	Het
Psma7	A	G	2: 180,039,400	V59A	probably benign	Het
Qser1	T	A	2: 104,788,961	Y502F	probably benign	Het
Rad50	T	C	11: 53,668,025	D1129G	probably damaging	Het
Rasal1	C	A	5: 120,674,729	P606Q	probably damaging	Het
Rgs6	A	G	12: 83,133,689	Y438C	probably damaging	Het
Rnf180	A	G	13: 105,252,266	C73R	probably benign	Het
Rnf216	T	A	5: 143,080,241	I474F	possibly damaging	Het
Sdha	A	T	13: 74,332,247	L371Q	probably damaging	Het
Sdk1	T	G	5: 142,084,566	L1162R	possibly damaging	Het
Sh3rf2	T	C	18: 42,104,081	I223T	probably damaging	Het
Sirpb1a	A	G	3: 15,410,527	V316A	probably damaging	Het
Slc12a4	A	T	8: 105,945,389	I897N	probably benign	Het
Slc35d1	A	T	4: 103,190,838	V243E	probably damaging	Het
Slc4a11	T	A	2: 130,690,932	K200N	possibly damaging	Het
Slc9a8	T	A	2: 167,451,296	M188K	probably damaging	Het
Snrnp200	T	C	2: 127,232,982	S1492P	probably damaging	Het
Sphk2	T	C	7: 45,710,725	*618W	probably null	Het
Sytl2	T	C	7: 90,403,020		probably benign	Het
Tdpoz3	A	G	3: 93,826,924	N302S	probably benign	Het
Tdrd6	T	C	17: 43,624,308	M1950V	probably benign	Het
Tmem39a	A	G	16: 38,564,313		probably benign	Het
Trip4	A	T	9: 65,858,358	I353K	probably damaging	Het
Trip6	A	T	5: 137,312,841	F204L	probably benign	Het
Trpm4	T	A	7: 45,319,253	I419F	possibly damaging	Het
Ttn	C	A	2: 76,944,796	E1967D	probably damaging	Het
Uba2	C	T	7: 34,150,856	V391M	possibly damaging	Het
Ubr4	T	G	4: 139,479,435		probably benign	Het
Upf1	G	A	8: 70,335,645		probably benign	Het
Vmn1r228	A	C	17: 20,776,596	V220G	possibly damaging	Het
Vmn2r79	A	G	7: 87,003,386	M429V	probably benign	Het
Vps36	C	T	8: 22,210,456	T210I	possibly damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Ybx1	C	T	4: 119,281,591	G126D	probably benign	Het
Yipf5	C	A	18: 40,206,407		probably benign	Het
Zdhhc5	A	C	2: 84,690,115	S573A	probably benign	Het
Zfp457	A	T	13: 67,293,927	C99S	probably damaging	Het
Zfp52	T	A	17: 21,561,302	C471S	probably damaging	Het
Zfp558	C	T	9: 18,467,956	V71I	probably damaging	Het
Zfp651	A	G	9: 121,767,575	T666A	probably benign	Het
Zfp655	A	G	5: 145,244,457	Y375C	probably damaging	Het
Zfp882	A	T	8: 71,914,615	T429S	probably benign	Het
Zmym2	T	C	14: 56,949,684		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
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
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'- TGAAGAGGGTCATCCTGCTGACAG -3'
(R):5'- CTCTGCTGGGACAGTTTATGTCCAC -3'

Sequencing Primer
(F):5'- GAAGCATCATCTTCTCATACAGTGG -3'
(R):5'- CAGTTTATGTCCACAGAGAAGTGAC -3'

Posted On

2013-05-09