Mutagenetix > Incidental Mutation

Incidental Mutation 'R7456:Polr3b'

578143

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

045530-MU

Accession Numbers

Genbank: NM_027423

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84622292-84727178 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84622491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 9 (G9R)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

probably benign
Transcript: ENSMUST00000077175
AA Change: G9R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: G9R

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: 100.0%
10x: 99.8%
20x: 99.5%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	T	14: 8,442,933	L612*	probably null	Het
9030624J02Rik	C	T	7: 118,804,117	P628S	probably benign	Het
Acer2	A	G	4: 86,874,511	D8G	possibly damaging	Het
Angpt4	T	C	2: 151,939,067	Y412H	probably damaging	Het
Ankef1	A	G	2: 136,545,814	D217G	probably benign	Het
Ano2	A	T	6: 125,963,545	I544F	probably benign	Het
App	G	A	16: 85,173,560			Het
Arhgef26	A	G	3: 62,340,055	T187A	probably benign	Het
Axin1	T	A	17: 26,143,165	V161E	probably damaging	Het
Bbs7	A	T	3: 36,594,378	V407D	probably damaging	Het
C1qtnf3	A	T	15: 10,972,051	E141V	probably benign	Het
C2	A	G	17: 34,864,582	I469T	probably damaging	Het
Cc2d1a	A	G	8: 84,140,239		probably null	Het
Cd226	A	T	18: 89,206,623	I10F	probably damaging	Het
Cep295nl	T	C	11: 118,333,550	K156R	possibly damaging	Het
Cfap44	A	G	16: 44,431,942	T805A	probably benign	Het
Chd9	G	T	8: 90,932,525	E38*	probably null	Het
Cldnd2	C	T	7: 43,441,685	L14F	not run	Het
Cyp11b2	T	C	15: 74,853,530	T247A	probably benign	Het
Dsc1	T	C	18: 20,086,822	S764G	probably benign	Het
Dsg3	A	T	18: 20,531,363	T473S	probably benign	Het
E330009J07Rik	T	G	6: 40,406,840	M423L	probably benign	Het
Fam193a	A	T	5: 34,420,788	I209F	possibly damaging	Het
Foxs1	T	C	2: 152,933,125	K3E	probably benign	Het
Gabrr3	C	T	16: 59,407,490	Q37*	probably null	Het
Gcm2	A	T	13: 41,103,275	W333R	probably benign	Het
Gcn1l1	C	T	5: 115,604,946	Q1559*	probably null	Het
Gfm2	A	T	13: 97,145,703	K69*	probably null	Het
Gm14295	T	G	2: 176,809,150	C144W	possibly damaging	Het
Gm32742	G	A	9: 51,159,970	T5I	probably damaging	Het
Gm5093	T	C	17: 46,439,753	D116G	probably damaging	Het
Gsn	A	T	2: 35,282,706	K3N	possibly damaging	Het
H2-M2	C	T	17: 37,481,661	D240N	possibly damaging	Het
Habp2	G	C	19: 56,319,525	G482R	probably damaging	Het
Hnrnpm	A	T	17: 33,646,648	Y680N	possibly damaging	Het
Hrc	T	A	7: 45,336,896	D490E	possibly damaging	Het
Impg2	A	G	16: 56,259,913	I693M	probably benign	Het
Itga7	A	G	10: 128,941,936	Y262C	probably damaging	Het
Kif1c	A	G	11: 70,728,598	T1020A	probably benign	Het
Kif23	T	C	9: 61,937,120	I139V	probably benign	Het
Klk5	A	G	7: 43,850,831	E281G	probably benign	Het
Kpna4	A	G	3: 69,092,848	V275A	probably damaging	Het
Lamb2	C	A	9: 108,485,780	D787E	possibly damaging	Het
Ldlrad3	A	C	2: 101,954,925	V235G	probably damaging	Het
Maneal	A	G	4: 124,856,974	S330P	probably damaging	Het
Maz	G	A	7: 127,026,317	Q35*	probably null	Het
Mthfd1l	C	T	10: 4,089,998	T803M	probably damaging	Het
Muc5ac	A	G	7: 141,793,167	Q325R	probably benign	Het
Myo3a	C	A	2: 22,407,444	A758E	probably benign	Het
Ndufb7	A	G	8: 83,566,853	D12G	probably benign	Het
Nsun2	T	A	13: 69,633,606	C677S	probably damaging	Het
Obscn	A	G	11: 59,008,558	F6471S	probably benign	Het
Olfr1204	A	T	2: 88,852,219	I90F	probably damaging	Het
Olfr639	A	G	7: 104,011,838	V288A	possibly damaging	Het
Olfr851	T	C	9: 19,497,548	S267P	probably damaging	Het
Otof	T	C	5: 30,394,661	D313G	probably damaging	Het
Paqr5	T	C	9: 61,972,790	D74G	probably benign	Het
Pigq	A	G	17: 25,934,606	V365A	unknown	Het
Podn	A	T	4: 108,017,805	N588K	probably benign	Het
Proser1	A	G	3: 53,478,518	H607R	probably damaging	Het
Ryr2	C	T	13: 11,752,282	V1241I	probably benign	Het
Sar1b	G	A	11: 51,791,354	A170T	probably benign	Het
Slc22a17	T	C	14: 54,912,259	T191A	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,040		unknown	Het
Slco6d1	A	T	1: 98,421,357	D51V	possibly damaging	Het
Snx16	G	A	3: 10,435,481	R143*	probably null	Het
Sytl2	T	A	7: 90,348,847	L19Q	probably damaging	Het
Tmcc3	A	G	10: 94,582,312	E345G	possibly damaging	Het
Ttn	C	T	2: 76,725,654	A30336T	probably damaging	Het
Vmn1r44	A	G	6: 89,893,419	D49G	probably benign	Het
Vps41	T	A	13: 18,864,034	D801E	probably benign	Het
Wif1	G	A	10: 121,096,649	E311K	probably benign	Het
Zfp513	G	T	5: 31,200,415	R207S	possibly damaging	Het
Zfp52	C	A	17: 21,561,353	H488N	probably damaging	Het
Zfp738	A	G	13: 67,669,500	Y791H	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
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'- GGAACCTTTTGAAACGCCTCC -3'
(R):5'- GCTGCTACAAACGCTCAAG -3'

Sequencing Primer
(F):5'- TTTTGAAACGCCTCCCCGTAAAC -3'
(R):5'- GCTCCGAGCATGTGCAGAAG -3'

Posted On

2019-10-07