Mutagenetix > Incidental Mutation

Incidental Mutation 'R8866:Polr3b'

675940

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84622292-84727178 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84695691 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 810 (D810E)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

probably benign
Transcript: ENSMUST00000077175
AA Change: D810E

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: D810E

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: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 60,007,090	T38I	probably benign	Het
Arhgap1	G	T	2: 91,669,399	S293I	probably benign	Het
Arhgap45	C	A	10: 80,017,916	P88Q	probably damaging	Het
Atg9a	A	C	1: 75,185,223	F560V	probably damaging	Het
Btaf1	T	A	19: 36,958,501	N230K	probably benign	Het
Ccne1	A	C	7: 38,100,621	H179Q	probably benign	Het
Dbr1	T	A	9: 99,578,444	L109*	probably null	Het
Dchs1	G	T	7: 105,755,390	N2648K	probably benign	Het
Ddx47	A	G	6: 135,023,393	K451E	probably benign	Het
Dlgap1	A	T	17: 70,516,440	H140L	probably damaging	Het
Dnah11	T	A	12: 118,192,372	H181L	probably benign	Het
Dync1h1	T	C	12: 110,635,899	C2074R	probably damaging	Het
Ell2	A	T	13: 75,769,674	Q574H	probably damaging	Het
Eloa	A	C	4: 136,010,227		probably null	Het
Epha7	A	G	4: 28,821,614	I260V	probably benign	Het
Fbp2	T	C	13: 62,841,895	K199R	probably benign	Het
Fetub	A	T	16: 22,939,571	E368V	possibly damaging	Het
Fsip2	A	G	2: 82,980,177	Q2280R	probably benign	Het
Fstl4	A	G	11: 53,072,406	E205G	possibly damaging	Het
Gm5592	A	T	7: 41,288,822	R509S	possibly damaging	Het
Gpld1	A	G	13: 24,986,907	T794A	probably benign	Het
Gsk3b	A	G	16: 38,184,538	Y157C	probably damaging	Het
Hgs	A	G	11: 120,469,638	N54S	probably benign	Het
Hydin	G	A	8: 110,582,147	V4022M	possibly damaging	Het
Kank1	T	C	19: 25,411,338	S792P	possibly damaging	Het
Kctd4	A	G	14: 75,963,025	I145M	probably benign	Het
Klra5	A	T	6: 129,903,570	W212R	probably damaging	Het
Lrp6	A	T	6: 134,468,822	N1009K	probably benign	Het
Lrrc10	T	A	10: 117,045,953	N177K	probably damaging	Het
Lrrc39	T	A	3: 116,570,141	I121N	probably damaging	Het
Mov10l1	A	T	15: 89,011,966	D671V	probably benign	Het
Ndel1	A	G	11: 68,843,819		probably null	Het
Olfr1512	A	T	14: 52,372,739	Y105N	probably damaging	Het
Olfr387-ps1	A	G	11: 73,664,999	Y130C	probably damaging	Het
Olfr392	A	T	11: 73,814,411	S224T	probably damaging	Het
Olfr644	A	T	7: 104,068,912	S40T	probably damaging	Het
Otop2	A	G	11: 115,329,528	D398G	probably benign	Het
Pkd1	T	C	17: 24,573,077	V1246A	probably damaging	Het
Ppl	T	A	16: 5,102,347	T395S	probably benign	Het
Ptprm	G	A	17: 66,809,635	A883V	probably benign	Het
Rapgef6	G	A	11: 54,552,874		probably null	Het
Rbm12	A	T	2: 156,096,773	Y526*	probably null	Het
Rbm15b	C	T	9: 106,886,396	R191Q	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,579,913		probably benign	Het
Serpinb6c	A	T	13: 33,899,326	I35N	probably damaging	Het
Setd4	A	G	16: 93,590,073	F246L	probably damaging	Het
Shank2	A	G	7: 144,411,249	S865G	probably benign	Het
Skint6	T	C	4: 112,854,453	N956D	probably benign	Het
Slc30a3	C	A	5: 31,087,981	V332F	possibly damaging	Het
Smg1	A	G	7: 118,206,899	S240P	unknown	Het
Tank	T	A	2: 61,578,661	S7R	probably benign	Het
Tecpr1	T	C	5: 144,216,299	E204G	possibly damaging	Het
Tmem5	A	G	10: 122,089,048	Y250H	probably damaging	Het
Tmem74	A	G	15: 43,866,835	S271P	probably damaging	Het
Tor4a	T	C	2: 25,194,953	M313V	probably benign	Het
Tpd52l2	A	G	2: 181,513,068	D192G	probably damaging	Het
Trim29	T	C	9: 43,311,648	V258A	probably damaging	Het
Ttc39c	A	T	18: 12,697,946	S288C	probably benign	Het
Ttn	T	C	2: 76,762,331	E20819G	probably damaging	Het
Twnk	C	T	19: 45,011,833	Q663*	probably null	Het
Ucn	T	A	5: 31,138,513	Q3L	probably benign	Het
Unc80	G	A	1: 66,590,229	G1295E	probably benign	Het
Usp9y	C	T	Y: 1,395,758	R492H	probably damaging	Het
Vars	T	C	17: 35,015,644	S1150P	probably benign	Het
Vwa5b1	T	G	4: 138,600,317	E316A	probably damaging	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zfp839	A	G	12: 110,868,414	E701G	probably benign	Het
Zfp931	A	T	2: 178,068,385	C69*	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
R8797:Polr3b	UTSW	10	84697015	nonsense	probably null
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'- GGAGAAGTGGCTTATTGAGTACCAC -3'
(R):5'- GAAAATGACCACACTGGCTG -3'

Sequencing Primer
(F):5'- GTGGCTTATTGAGTACCACAAATCC -3'
(R):5'- TGACCACACTGGCTGAATGTAG -3'

Posted On

2021-07-15