Mutagenetix > Incidental Mutation

Incidental Mutation 'R6419:Polr3b'

518015

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 #

R6419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84622292-84727178 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84638111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 185 (S185P)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077175
AA Change: S185P

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: S185P

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: ENSMUST00000213263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213543

Predicted Effect

probably benign
Transcript: ENSMUST00000215853

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

96% (67/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	C	4: 42,812,473		probably benign	Het
Abcc2	T	A	19: 43,837,508		probably null	Het
Adamts12	C	T	15: 11,215,673	T260M	possibly damaging	Het
Adamts20	C	T	15: 94,333,675	V878I	possibly damaging	Het
Adgrl4	A	G	3: 151,439,316	E34G	probably damaging	Het
Asah1	A	T	8: 41,343,766	I293N	probably damaging	Het
B3galt2	A	T	1: 143,647,101	E325V	possibly damaging	Het
Baz1b	T	A	5: 135,242,494	H1310Q	probably benign	Het
Ccdc125	T	A	13: 100,690,326	N204K	probably damaging	Het
Cd36	C	T	5: 17,797,152	D284N	probably benign	Het
Cdh12	T	C	15: 21,520,397	L316S	probably damaging	Het
Cenpv	T	C	11: 62,525,182	K247R	probably benign	Het
Cldn18	T	C	9: 99,692,748	H257R	possibly damaging	Het
Cnot8	T	A	11: 58,114,065	Y197N	probably damaging	Het
Cog3	A	T	14: 75,724,738	C554*	probably null	Het
Col4a4	A	G	1: 82,466,486		probably null	Het
Cops5	G	A	1: 10,033,307	T158I	probably damaging	Het
Dhh	A	G	15: 98,894,401	F242S	probably damaging	Het
Dot1l	T	C	10: 80,791,481	V1512A	possibly damaging	Het
Dstn	T	G	2: 143,939,987	I116S	possibly damaging	Het
Egfem1	G	A	3: 29,657,249	D326N	probably damaging	Het
Enpp3	A	T	10: 24,808,191	Y52N	probably damaging	Het
Fam214a	G	A	9: 75,009,337	S413N	probably benign	Het
Gabra2	A	G	5: 70,962,083	S359P	probably benign	Het
Gbp7	G	A	3: 142,546,453	G599E	probably benign	Het
Gcat	T	G	15: 79,036,064	I198S	probably damaging	Het
Gm8439	A	G	4: 120,609,558	K82R	unknown	Het
Grin2b	A	G	6: 135,740,967	F709S	probably damaging	Het
Grm3	T	C	5: 9,570,201	N348D	probably damaging	Het
Hdgfl1	G	A	13: 26,770,092		probably benign	Het
Hmgxb3	G	T	18: 61,152,224	D564E	possibly damaging	Het
Igkv4-61	C	A	6: 69,417,154	A31S	possibly damaging	Het
Impg1	A	G	9: 80,380,018	V305A	probably benign	Het
Ints7	T	A	1: 191,602,302	S313T	possibly damaging	Het
Knl1	T	A	2: 119,069,003	I395K	probably benign	Het
Lactb2	A	T	1: 13,638,235	Y196*	probably null	Het
Lad1	T	C	1: 135,831,892	S509P	possibly damaging	Het
Ltf	T	C	9: 111,031,022	F504L	possibly damaging	Het
Med4	A	T	14: 73,513,923	D104V	probably damaging	Het
Mrpl58	A	T	11: 115,410,247	N128Y	probably damaging	Het
Ndufs2	T	C	1: 171,241,099	T54A	probably benign	Het
Notch2	G	T	3: 98,100,389		probably null	Het
Ntng1	A	T	3: 109,782,853	N424K	possibly damaging	Het
Ntrk2	G	A	13: 58,861,299	W301*	probably null	Het
Olfr1471	T	A	19: 13,445,767	S252T	probably benign	Het
Otud6b	A	G	4: 14,822,766	S113P	possibly damaging	Het
Papd7	A	C	13: 69,510,666	M350R	possibly damaging	Het
Pcdhb20	A	G	18: 37,505,555	N378S	probably damaging	Het
Ptprn	G	A	1: 75,264,037	R31C	probably benign	Het
Rgsl1	C	T	1: 153,822,371	V478M	probably damaging	Het
Sema6b	A	T	17: 56,132,784	L19*	probably null	Het
Slfn8	A	G	11: 83,004,055		probably null	Het
Spen	A	T	4: 141,476,310	S1669T	unknown	Het
Syne2	T	C	12: 76,096,966	F1522L	probably damaging	Het
Tarbp1	C	T	8: 126,459,044	A470T	possibly damaging	Het
Tiam1	C	A	16: 89,898,024	E182*	probably null	Het
Tmem231	G	A	8: 111,926,892		probably benign	Het
Trip12	C	T	1: 84,793,870	A186T	probably damaging	Het
Ufc1	C	T	1: 171,288,956	A147T	probably damaging	Het
Vmn1r199	A	G	13: 22,383,607	K314R	possibly damaging	Het
Vmn2r13	A	T	5: 109,175,219	I68K	possibly damaging	Het
Vmn2r77	A	T	7: 86,811,559	I698F	probably damaging	Het
Vmn2r86	T	C	10: 130,446,926	K607R	probably damaging	Het
Vwa3b	T	C	1: 37,157,376	V28A	probably benign	Het
Wdr19	A	G	5: 65,215,893	N166S	possibly damaging	Het
Wfdc17	G	A	11: 83,704,808	G33R	probably damaging	Het
Zfp330	T	G	8: 82,764,916	K209N	probably benign	Het
Zfp493	A	G	13: 67,786,407	T160A	probably benign	Het
Zfp974	A	T	7: 27,911,515	C262S	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
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'- GGTTCCTGCAGTGATGATCC -3'
(R):5'- ACACACTGCCTGCTATGGAG -3'

Sequencing Primer
(F):5'- GCAGTGATGATCCTAGGCACTTAC -3'
(R):5'- CTGCCTGCTATGGAGAGAAATACC -3'

Posted On

2018-05-24