Mutagenetix > Incidental Mutation

Incidental Mutation 'R8074:Polr3b'

620425

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

067508-MU

Accession Numbers

Genbank: NM_027423

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84622292-84727178 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84713659 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 915 (D915G)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

probably damaging
Transcript: ENSMUST00000077175
AA Change: D915G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: D915G

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: 99.7%
20x: 99.2%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,938,494	I1380L	probably benign	Het
Adcy3	T	C	12: 4,134,420	V32A	probably benign	Het
Ano3	T	A	2: 110,950,232		probably benign	Het
Arhgef12	G	A	9: 42,971,103	R1482*	probably null	Het
Cd300lg	T	G	11: 102,041,601	L4R	probably damaging	Het
Cfap57	T	A	4: 118,569,625	K1072M	possibly damaging	Het
Clasp1	G	T	1: 118,462,483	M132I	probably benign	Het
Clec18a	T	G	8: 111,071,598	D489A	probably damaging	Het
Cngb1	A	G	8: 95,252,173	S551P		Het
Efna4	G	A	3: 89,335,326	T87M	probably benign	Het
Fam229b	T	C	10: 39,120,259	R42G	probably null	Het
Gm17175	C	T	14: 51,571,623	M95I	probably damaging	Het
Grk4	A	G	5: 34,676,138	E96G	probably benign	Het
Helb	A	C	10: 120,089,416	F1019V	probably benign	Het
Hsd17b2	T	C	8: 117,758,701	V301A	possibly damaging	Het
Htr1b	A	G	9: 81,631,529	F342L	probably benign	Het
Idua	C	A	5: 108,680,575	A265E	possibly damaging	Het
Jup	T	G	11: 100,386,287	T32P	probably damaging	Het
Kidins220	A	G	12: 25,057,716	K1632E	probably benign	Het
Lef1	G	A	3: 131,204,305		probably null	Het
Lypla2	A	G	4: 135,969,801		probably null	Het
Mall	A	G	2: 127,729,865	M1T	probably null	Het
Mettl25	G	T	10: 105,826,080	A343E	probably benign	Het
Mpdz	T	C	4: 81,349,087	N940S	probably benign	Het
Nsun4	A	T	4: 116,051,434	V643D	possibly damaging	Het
Nupr1	A	T	7: 126,624,937	F70Y	possibly damaging	Het
Olfr1047	C	G	2: 86,228,129	V281L	possibly damaging	Het
Olfr202	A	G	16: 59,284,186	F104L	probably benign	Het
Olfr23	T	A	11: 73,940,387	V47D	possibly damaging	Het
Olfr548-ps1	A	G	7: 102,542,623	H229R	probably benign	Het
Olfr671	A	T	7: 104,975,727	I90N	probably damaging	Het
Olfr951	A	T	9: 39,393,946	I49F	probably damaging	Het
Pabpc4	A	T	4: 123,286,715	M77L	probably benign	Het
Phactr3	A	G	2: 178,302,796	E429G	probably damaging	Het
Pramef17	A	T	4: 143,991,854	F340I	probably benign	Het
Prkcg	T	A	7: 3,323,521	M501K	probably damaging	Het
Prkch	G	A	12: 73,700,267	A307T	possibly damaging	Het
Ptprt	A	G	2: 161,927,661	V428A	possibly damaging	Het
Rnf145	C	A	11: 44,557,436	D373E	probably damaging	Het
Scfd2	G	T	5: 74,519,596	Q299K	probably benign	Het
Sept2	A	G	1: 93,505,561	D315G	probably benign	Het
Sf3a1	T	A	11: 4,175,435	Y408*	probably null	Het
Siglecf	A	T	7: 43,351,790	N61Y	possibly damaging	Het
Sis	A	T	3: 72,917,198	I1334K	probably damaging	Het
Slc38a6	A	T	12: 73,344,884	T307S	possibly damaging	Het
Spag9	T	A	11: 94,112,051	F1129Y	probably damaging	Het
Sra1	G	A	18: 36,675,011	A388V	possibly damaging	Het
Srpk1	T	G	17: 28,622,016	K12T	probably damaging	Het
Stam2	A	T	2: 52,706,426	I333K	probably damaging	Het
Tle1	GAA	GA	4: 72,138,979		probably null	Het
Tmem121b	T	C	6: 120,492,908	K283E	possibly damaging	Het
Tmem200a	T	C	10: 25,992,952	E473G	probably damaging	Het
Tnxb	T	A	17: 34,703,981	S2513T	probably benign	Het
Ttc16	A	T	2: 32,774,123		probably benign	Het
Ttll8	C	T	15: 88,915,375	C621Y	probably damaging	Het
Ubn2	T	A	6: 38,440,540	M171K	probably benign	Het
Vmn2r19	T	A	6: 123,335,945	V658D	probably damaging	Het
Vmn2r6	A	T	3: 64,547,643		probably benign	Het
Vwa3a	A	T	7: 120,799,098	I941L	probably benign	Het
Zbtb24	A	G	10: 41,451,232	D38G	probably damaging	Het
Zfp628	T	C	7: 4,920,206	C476R	probably damaging	Het
Zfp831	A	C	2: 174,644,735	N401T	possibly 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
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'- CAATGCTTTTCTGCAAGGAGAGTC -3'
(R):5'- TTTATCCGACAGGGTGCCAC -3'

Sequencing Primer
(F):5'- CTGCAAGGAGAGTCATTTTTGAACTG -3'
(R):5'- AGGGTGCCACTCACTGTAAC -3'

Posted On

2020-01-23