Mutagenetix > Incidental Mutation

Incidental Mutation 'R4721:Polr3b'

354476

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

041986-MU

Accession Numbers

Genbank: NM_027423

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84622292-84727178 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84656003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 342 (V342A)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077175
AA Change: V342A

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: V342A

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

unknown
Transcript: ENSMUST00000215853
AA Change: V150A

Meta Mutation Damage Score

0.1536

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (90/92)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,663,150	D286G	probably benign	Het
Abca15	G	A	7: 120,350,775	E491K	probably benign	Het
Acsl5	A	G	19: 55,280,530	T208A	probably benign	Het
Adamts10	T	A	17: 33,545,537		probably null	Het
Ahcyl1	T	C	3: 107,669,917	Q313R	possibly damaging	Het
Ccdc71	C	T	9: 108,463,423	S145L	possibly damaging	Het
Cep250	A	G	2: 155,970,199	T472A	probably damaging	Het
Copa	T	C	1: 172,104,274		probably benign	Het
Crybg1	C	A	10: 43,997,887	R1075L	probably damaging	Het
Ddr2	T	A	1: 170,005,240	K84*	probably null	Het
Ddx59	C	T	1: 136,417,106	P172S	probably benign	Het
Dhx34	T	A	7: 16,197,382	Q1118L	possibly damaging	Het
Dkkl1	T	A	7: 45,207,808	I112F	probably damaging	Het
Dnah8	T	A	17: 30,725,166	C1786S	probably damaging	Het
Eml6	T	A	11: 29,838,525	D520V	possibly damaging	Het
Ergic1	T	A	17: 26,638,776	V192E	probably damaging	Het
Fat3	T	C	9: 16,029,966	E1343G	probably damaging	Het
Fxr1	T	C	3: 34,064,232	S535P	possibly damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm15446	C	T	5: 109,943,000	H373Y	probably damaging	Het
Gpr157	A	T	4: 150,098,963	N197Y	probably benign	Het
Grid2	G	A	6: 64,666,201	M982I	probably benign	Het
Hey2	G	T	10: 30,834,308	R150S	possibly damaging	Het
Hmcn1	T	C	1: 150,772,571		probably null	Het
Ighv3-3	G	A	12: 114,196,536	R85*	probably null	Het
Ighv5-4	A	T	12: 113,597,440		probably benign	Het
Igsf21	A	G	4: 140,107,310	S84P	probably benign	Het
Kif20b	A	G	19: 34,938,373	T517A	probably benign	Het
Krt83	T	C	15: 101,487,982	E244G	probably damaging	Het
Lrp1	T	C	10: 127,555,059	T2990A	possibly damaging	Het
Lrp1b	T	A	2: 40,715,369		probably null	Het
Lrrc42	A	T	4: 107,233,853	S382T	probably benign	Het
Magi2	C	T	5: 20,534,469	R737W	probably damaging	Het
Mcc	A	G	18: 44,519,556	L267P	probably damaging	Het
Mzf1	T	A	7: 13,043,296	Q727L	possibly damaging	Het
Mzf1	C	T	7: 13,043,521	R652Q	possibly damaging	Het
Nkain3	C	T	4: 20,485,015	A21T	probably damaging	Het
Nlrp4e	T	A	7: 23,321,096	V336E	possibly damaging	Het
Nptn	C	T	9: 58,640,776	R155C	probably damaging	Het
Nr2c2	T	C	6: 92,139,847	I10T	possibly damaging	Het
Olfr1148	T	A	2: 87,833,171	I44N	probably damaging	Het
Olfr341	T	C	2: 36,479,824	Y102C	probably benign	Het
Olfr385	C	T	11: 73,589,447	C97Y	probably damaging	Het
Pdzk1	G	T	3: 96,869,202	E493*	probably null	Het
Plekhh1	GTCAAA	G	12: 79,075,420		probably null	Het
Prg3	T	C	2: 84,991,406	V125A	possibly damaging	Het
Raph1	G	A	1: 60,503,001		probably benign	Het
Rassf2	A	G	2: 132,004,438	V133A	probably benign	Het
Rbm22	G	A	18: 60,564,391	R56H	probably damaging	Het
Rbpjl	A	C	2: 164,404,527	S31R	probably benign	Het
Reln	A	G	5: 21,919,222	V2762A	probably damaging	Het
Rxrg	T	A	1: 167,625,052	I141N	probably damaging	Het
Scn7a	C	A	2: 66,684,185	G1082C	probably damaging	Het
Selenon	C	A	4: 134,543,076	E322*	probably null	Het
Sipa1	C	T	19: 5,660,385	R199Q	probably damaging	Het
Slc26a7	A	T	4: 14,510,261		probably null	Het
Slc37a4	T	C	9: 44,401,490	S314P	possibly damaging	Het
Smarce1	T	C	11: 99,220,717	I59V	probably benign	Het
Stk19	T	C	17: 34,823,144		probably null	Het
Susd2	C	T	10: 75,638,130	D544N	probably benign	Het
Tcf7l2	G	T	19: 55,931,454	R465L	possibly damaging	Het
Tfap2d	T	A	1: 19,104,760	S146T	possibly damaging	Het
Tmem156	A	G	5: 65,091,527	F10S	probably benign	Het
Tmem63c	G	T	12: 87,057,180	A68S	possibly damaging	Het
Tnfrsf21	T	C	17: 43,085,504	C560R	probably damaging	Het
Trav10n	C	T	14: 53,122,133	T7I	probably benign	Het
Ttc38	C	T	15: 85,838,746	R132W	probably benign	Het
Tvp23a	T	C	16: 10,427,411	K108R	probably benign	Het
Vmn1r233	T	C	17: 20,994,617	M24V	probably benign	Het
Vmn1r88	T	A	7: 13,178,524	L269*	probably null	Het
Vmn2r101	T	A	17: 19,612,025	M761K	probably damaging	Het
Vps13b	C	T	15: 35,910,718	Q3543*	probably null	Het
Wdr37	T	C	13: 8,854,029	E101G	possibly damaging	Het
Zc3hc1	A	G	6: 30,374,900	V214A	probably benign	Het
Zcchc9	A	T	13: 91,800,609		probably null	Het
Zdbf2	A	T	1: 63,308,792	Q2110L	possibly damaging	Het
Zfp516	T	G	18: 82,957,111	L478R	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
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
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'- AGCCTGTATACCTCTTGGGG -3'
(R):5'- CACAGATTCTATTAGATTGGGATGTGG -3'

Sequencing Primer
(F):5'- ATACCTCTTGGGGTTTAGACAGC -3'
(R):5'- GGGATGTGGTCATATCTAAAATGAC -3'

Posted On

2015-10-21