Mutagenetix > Incidental Mutations

Incidental Mutation 'R0180:Polr3b'

23833

Institutional Source

Beutler Lab

Gene Symbol

Polr3b

Ensembl Gene

ENSMUSG00000034453

Gene Name

polymerase (RNA) III (DNA directed) polypeptide B

Synonyms

RPC2, A330032P03Rik, 2700078H01Rik

Accession Numbers

Genbank: NM_027423

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0180 (G1)

Quality Score

224

Status

Validated (trace)

Chromosome

Chromosomal Location

84622292-84727178 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84622515 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 17 (T17A)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

probably benign
Transcript: ENSMUST00000077175
AA Change: T17A

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

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: T17A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213263

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 89.5%

Validation Efficiency

77% (53/69)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	A	19: 21,652,639	N24Y	probably damaging	Het
2810408A11Rik	A	T	11: 69,898,876	M311K	probably benign	Het
Ackr2	T	C	9: 121,908,916	I119T	probably benign	Het
Adamtsl3	A	G	7: 82,575,990	M336V	probably benign	Het
Adhfe1	T	A	1: 9,563,857	F374I	probably benign	Het
Apob	C	T	12: 8,008,285	Q2256*	probably null	Het
Arg1	T	C	10: 24,916,830	I169V	probably benign	Het
Atxn1	A	G	13: 45,557,548	V636A	probably damaging	Het
B3gnt5	T	A	16: 19,769,100	I23K	possibly damaging	Het
Casc1	A	G	6: 145,183,218		probably benign	Het
Catsperg1	A	T	7: 29,190,431		probably null	Het
Celf3	T	A	3: 94,485,340	F115L	probably damaging	Het
Cep192	T	A	18: 67,835,488	H984Q	probably damaging	Het
Col18a1	A	G	10: 77,096,517	V493A	probably benign	Het
Col5a2	C	T	1: 45,411,460	G376S	probably damaging	Het
Colec12	A	G	18: 9,848,890	H356R	probably damaging	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cracr2a	T	C	6: 127,604,074		probably null	Het
Ctsr	T	C	13: 61,162,745	H62R	probably damaging	Het
Cyp4f40	G	T	17: 32,659,667	W61L	probably benign	Het
Dnah9	T	G	11: 66,147,290	H140P	probably damaging	Het
Dnm1	T	G	2: 32,327,993	I464L	probably damaging	Het
Dnmt1	G	A	9: 20,908,620	T1409I	probably damaging	Het
Dock1	G	A	7: 135,098,837	D1109N	probably damaging	Het
Efhc1	A	G	1: 20,967,489	M297V	probably benign	Het
Emcn	A	T	3: 137,418,994		probably null	Het
Ephb1	A	T	9: 101,927,504	M905K	probably damaging	Het
Fbxw10	A	G	11: 62,853,096	Y276C	probably benign	Het
Fermt3	C	A	19: 7,002,343	S474I	possibly damaging	Het
Frg1	T	A	8: 41,399,068		probably null	Het
Gbf1	T	C	19: 46,285,722	S1732P	probably benign	Het
Gbp8	A	C	5: 105,031,276	L119R	probably damaging	Het
Gldc	C	T	19: 30,100,817	A927T	possibly damaging	Het
Gm8836	T	A	6: 70,260,405		probably benign	Het
Grhl3	C	T	4: 135,554,530	V344I	probably benign	Het
Hhipl1	T	A	12: 108,328,070	L745H	probably damaging	Het
Ido1	T	C	8: 24,593,140	I90V	possibly damaging	Het
Itpr2	T	A	6: 146,501,909		probably benign	Het
Kif1b	T	G	4: 149,213,659	S1029R	probably damaging	Het
Kmt2a	G	A	9: 44,826,851		probably benign	Het
Limk1	T	C	5: 134,669,261	N215D	probably damaging	Het
Lims2	A	G	18: 31,956,315	K144E	probably benign	Het
Mfsd6l	A	T	11: 68,556,545	Q74L	possibly damaging	Het
Mroh1	T	A	15: 76,428,250	S546T	probably damaging	Het
Ncbp3	T	A	11: 73,064,978		probably null	Het
Nlrx1	G	A	9: 44,255,459	H776Y	possibly damaging	Het
Nptxr	T	C	15: 79,794,403	M228V	probably benign	Het
Nsf	T	A	11: 103,930,780	L13F	probably damaging	Het
Nyap1	T	C	5: 137,738,021	E68G	probably damaging	Het
Olfr550	A	G	7: 102,579,032	Y179C	probably damaging	Het
Olfr9	A	T	10: 128,990,834	R307S	possibly damaging	Het
Pcdhb9	A	G	18: 37,402,254	N434D	probably damaging	Het
Pgm5	T	C	19: 24,815,763	D313G	probably damaging	Het
Pkdcc	G	A	17: 83,221,870		probably null	Het
Pkp1	T	C	1: 135,886,800	K261R	probably benign	Het
Pnpla6	A	G	8: 3,524,250		probably null	Het
Ppt2	A	T	17: 34,626,503	M98K	probably damaging	Het
Rasal3	T	C	17: 32,399,405	D142G	probably benign	Het
Rbm17	G	A	2: 11,587,779	S295L	probably benign	Het
Rhbdf1	A	T	11: 32,210,042	V153D	possibly damaging	Het
Slc6a3	C	T	13: 73,562,336	T355M	probably damaging	Het
Snrnp35	A	T	5: 124,490,820		probably benign	Het
Sorcs2	A	T	5: 36,153,845	I37N	probably damaging	Het
Tecta	G	T	9: 42,366,813	P1133Q	probably benign	Het
Tmem145	A	G	7: 25,314,699	I413V	probably benign	Het
Trappc11	G	T	8: 47,527,974	T144K	possibly damaging	Het
Triml2	A	T	8: 43,190,309	I223L	probably benign	Het
Ube2g2	T	A	10: 77,630,739	N19K	possibly damaging	Het
Ubqln3	A	G	7: 104,141,840	Y348H	probably damaging	Het
Wfs1	A	G	5: 36,967,028	F840L	probably damaging	Het
Zc3h11a	T	C	1: 133,621,611	I771V	probably benign	Het
Zdhhc23	G	A	16: 43,973,703	P203S	probably benign	Het
Zfp106	T	G	2: 120,533,875	T684P	probably damaging	Het
Zfp217	A	T	2: 170,120,137	L90Q	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
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
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
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'- CTTTTGAAACGCCTCCCCGTAAAC -3'
(R):5'- TCTGTACTTGCTGCTACAAACGCTC -3'

Sequencing Primer
(F):5'- GTAAACAAGCGCCACGG -3'
(R):5'- GCTGCTACAAACGCTCAAGAAC -3'

Posted On

2013-04-16