Mutagenetix > Incidental Mutations

Incidental Mutation 'R8082:Polr3b'

629426

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8082 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84622292-84727178 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84656063 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 362 (L362P)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

probably damaging
Transcript: ENSMUST00000077175
AA Change: L362P

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

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: L362P

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 94.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,142,121		probably null	Het
4921524J17Rik	G	A	8: 85,409,839	A133V	possibly damaging	Het
AI314180	G	A	4: 58,807,852	A1672V	probably benign	Het
Amd1	A	G	10: 40,290,512	F123L	probably benign	Het
Ankrd34c	C	A	9: 89,728,715	K524N	probably damaging	Het
Bicd2	C	T	13: 49,379,053	Q372*	probably null	Het
Cadps2	T	A	6: 23,323,314	M1002L	probably damaging	Het
Calcrl	T	C	2: 84,370,442	Y86C	possibly damaging	Het
Ccdc141	T	C	2: 77,124,244	I220V	probably damaging	Het
Cep152	T	C	2: 125,586,393	T773A	probably benign	Het
Cgn	A	G	3: 94,763,061	F1029L	probably benign	Het
Cntnap5b	T	A	1: 100,379,216	M515K	probably benign	Het
Col6a6	T	A	9: 105,783,930	K327*	probably null	Het
Cspg4	A	G	9: 56,885,893	Y304C	probably damaging	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
E130309D02Rik	T	C	5: 143,311,852	R147G	probably benign	Het
Emilin3	A	C	2: 160,908,146	V561G	probably damaging	Het
Fam3c	T	A	6: 22,343,304	D12V	unknown	Het
Fam83f	T	C	15: 80,689,918	V158A	probably damaging	Het
Fgfbp1	T	C	5: 43,979,279	R224G	probably damaging	Het
Gid4	A	G	11: 60,436,447	K153E	probably damaging	Het
Gm13178	A	C	4: 144,715,327	F118C	probably damaging	Het
Gm597	T	A	1: 28,777,498	K484N	probably benign	Het
Hic2	A	G	16: 17,258,699	H464R	probably damaging	Het
Hist2h3b	C	A	3: 96,268,993	Y100*	probably null	Het
Ilvbl	C	T	10: 78,584,153	R602C	probably damaging	Het
Izumo1r	T	A	9: 14,894,077	D171V	unknown	Het
Kel	T	A	6: 41,703,490	E12V	possibly damaging	Het
Klf15	T	C	6: 90,466,484	S14P	possibly damaging	Het
Lars	T	A	18: 42,244,910	S147C	probably damaging	Het
Lgals1	C	T	15: 78,930,101	A122V	probably benign	Het
Lgsn	C	T	1: 31,204,192	H452Y	probably benign	Het
Lrrc37a	T	A	11: 103,457,422	I2816F	unknown	Het
Mcoln1	T	A	8: 3,507,420	I142K	probably benign	Het
Met	G	A	6: 17,492,313	R358Q	probably damaging	Het
Mink1	T	A	11: 70,613,277	C1276S	possibly damaging	Het
Mrc1	T	C	2: 14,248,960	M264T	probably benign	Het
Mtfr2	C	T	10: 20,353,389	T81M	probably benign	Het
Myo5c	G	A	9: 75,275,511	A811T	possibly damaging	Het
Naip6	C	A	13: 100,300,401	S538I	probably benign	Het
Naip6	T	C	13: 100,300,453	T521A	probably benign	Het
Ndufs3	T	C	2: 90,894,864	D213G	probably damaging	Het
Olfr1009	T	C	2: 85,721,480	V25A	probably benign	Het
Olfr1014	T	A	2: 85,776,700	L39I	probably benign	Het
Olfr202	T	C	16: 59,284,387	T37A	possibly damaging	Het
Olfr639	T	A	7: 104,012,690	E4V	probably benign	Het
Otog	C	T	7: 46,289,719	R2058C	probably damaging	Het
Pcdh10	A	T	3: 45,381,744	K831M	probably damaging	Het
Polr1b	A	G	2: 129,115,732	D569G	probably benign	Het
Rims2	G	T	15: 39,476,523	R871L	probably benign	Het
Shprh	T	A	10: 11,151,811	I54N	probably benign	Het
Sipa1l2	T	C	8: 125,491,809	D263G	possibly damaging	Het
Slc43a1	C	T	2: 84,856,900	R382C	probably benign	Het
Sorbs1	T	C	19: 40,365,083	R193G	probably benign	Het
Sry	T	A	Y: 2,662,589	Q357L	unknown	Het
Taar8b	T	A	10: 24,091,891	D135V	possibly damaging	Het
Tekt3	T	G	11: 63,070,230	V75G	probably benign	Het
Tm7sf2	A	G	19: 6,066,321	L198P	probably damaging	Het
Tuba1a	C	T	15: 98,950,861	V177I	probably benign	Het
Wdr60	T	A	12: 116,213,507		probably null	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
R8074:Polr3b	UTSW	10	84713659	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'- TGACTCTTTTCTCGAGGCAC -3'
(R):5'- GGGGTAAACATCTCAACACAAG -3'

Sequencing Primer
(F):5'- CTCGAGGCACTTTAATTTAGGATAC -3'
(R):5'- GATTGGGATGTGGTCATATC -3'

Posted On

2020-06-30