Mutagenetix > Incidental Mutations

Incidental Mutation 'R9006:Polr3b'

685308

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 #

R9006 (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 A at 84631833 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 92 (N92K)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

probably benign
Transcript: ENSMUST00000077175
AA Change: N92K

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: N92K

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: 99.9%
10x: 99.6%
20x: 98.7%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,273,519	F1182L	possibly damaging	Het
Abcc6	T	C	7: 46,016,396	N267D	probably benign	Het
Akap1	A	T	11: 88,833,170	M803K	possibly damaging	Het
Amer2	G	C	14: 60,379,927	D524H	probably damaging	Het
Ankrd31	T	C	13: 96,830,596	F528L	probably benign	Het
Arhgef10l	A	G	4: 140,544,348	Y624H	probably benign	Het
Armc4	A	T	18: 7,294,516	N32K	probably benign	Het
Cfap73	G	A	5: 120,629,695	Q264*	probably null	Het
Clca2	C	A	3: 145,078,028	A609S	probably damaging	Het
Cntfr	A	T	4: 41,661,971		probably null	Het
Cyp2c65	C	T	19: 39,082,270	T299I	probably damaging	Het
Cyp2j5	G	T	4: 96,663,912	N33K	probably benign	Het
Dhcr7	T	A	7: 143,841,241	S165T	probably benign	Het
Dnah10	A	T	5: 124,743,719	D539V	probably benign	Het
Ebag9	A	T	15: 44,640,307	Q176L	probably benign	Het
Ftmt	A	G	18: 52,332,040	K143E	possibly damaging	Het
Gcc2	C	T	10: 58,267,979	R76C	probably damaging	Het
Gcn1l1	A	G	5: 115,581,507	T354A	probably benign	Het
Gm12394	C	T	4: 42,792,546	G529S	probably benign	Het
Gm906	G	A	13: 50,247,553	H246Y	possibly damaging	Het
Gtf2h1	A	G	7: 46,808,838	M271V	probably benign	Het
Iah1	G	A	12: 21,317,401	G36D	probably damaging	Het
Ism2	G	T	12: 87,280,195	D323E	probably damaging	Het
Itih4	A	G	14: 30,890,129	I184V	probably damaging	Het
Kdm4d	C	A	9: 14,463,537	V342L	probably benign	Het
Lmbr1	A	G	5: 29,346,902	F62L	probably benign	Het
Lmo7	TCGGATTCTGTGGC	TC	14: 101,917,636		probably benign	Het
Lypd8	T	A	11: 58,386,760	S123T	possibly damaging	Het
Micalcl	T	A	7: 112,382,116	N432K	probably benign	Het
Mrgprb4	A	G	7: 48,198,595	V195A	probably benign	Het
Ms4a4c	A	T	19: 11,418,996	I106F	probably benign	Het
Myo6	A	G	9: 80,228,858	T88A	unknown	Het
Naa35	A	G	13: 59,601,028	D158G	possibly damaging	Het
Nol12	A	G	15: 78,940,091	E137G	possibly damaging	Het
Nsun4	A	G	4: 116,040,119	S232P	probably damaging	Het
Odam	A	T	5: 87,892,439	I255L	probably benign	Het
Olfr1270	T	G	2: 90,149,983	T8P	probably damaging	Het
Olfr136	T	C	17: 38,335,832	V225A	possibly damaging	Het
Olfr317	G	A	11: 58,732,362	Q268*	probably null	Het
Olfr385	T	A	11: 73,589,210	H176L	probably benign	Het
Olfr51	A	T	11: 51,007,148	M59L	probably damaging	Het
Olfr761	A	T	17: 37,952,654	Y123*	probably null	Het
Pcnx2	T	C	8: 125,887,257	D485G	probably benign	Het
Rpgrip1l	T	A	8: 91,280,808	M385L	probably benign	Het
Sdk1	A	T	5: 141,937,566	N314I	probably damaging	Het
Slc45a1	A	C	4: 150,638,274	C384W	probably damaging	Het
Slc4a11	C	T	2: 130,690,853	V227M	probably damaging	Het
Sorbs2	A	C	8: 45,805,821	S1132R	possibly damaging	Het
Spta1	T	A	1: 174,219,971	I1727K	probably damaging	Het
Srgap2	T	C	1: 131,355,569	E258G	probably damaging	Het
Taco1	A	T	11: 106,066,105		probably benign	Het
Taf2	A	T	15: 55,045,905	M648K	possibly damaging	Het
Taf7	A	G	18: 37,642,704	V270A	probably benign	Het
Tbkbp1	G	A	11: 97,138,881	T483I	unknown	Het
Tesc	A	G	5: 118,046,313		probably null	Het
Tgs1	A	G	4: 3,595,427	N532S	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tmem196	T	A	12: 120,014,775	C84S	probably damaging	Het
Topbp1	C	T	9: 103,305,300		probably benign	Het
Ttc16	A	G	2: 32,762,973	S615P	probably benign	Het
Tuba3b	T	C	6: 145,619,838	V344A	possibly damaging	Het
Tubgcp4	T	C	2: 121,184,770	F320L	probably benign	Het
Tusc3	T	A	8: 39,071,473	L222*	probably null	Het
Ubr4	G	A	4: 139,444,692		probably null	Het
Uncx	G	T	5: 139,547,181	V334L	possibly damaging	Het
Vezf1	C	A	11: 88,074,716	F261L	probably damaging	Het
Vezt	T	A	10: 93,974,012	I556L	probably benign	Het
Vmn1r172	C	T	7: 23,659,977	R96C	probably benign	Het
Zfp383	A	G	7: 29,908,645	M1V	probably null	Het
Zfp558	A	T	9: 18,456,480	S337R	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
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
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'- CTATGAACTGTCACTTCAAGAAGGTAG -3'
(R):5'- ACAACAGGGTCTGAGATTTTCAAG -3'

Sequencing Primer
(F):5'- TGTCACTTCAAGAAGGTAGATAATTG -3'
(R):5'- GTATACAGCAAGCACAGAC -3'

Posted On

2021-10-11