Mutagenetix > Incidental Mutation

Incidental Mutation 'R3961:Polr3b'

312091

Institutional Source

Beutler Lab

Gene Symbol

Polr3b

Ensembl Gene

ENSMUSG00000034453

Gene Name

polymerase (RNA) III (DNA directed) polypeptide B

Synonyms

2700078H01Rik, RPC2, A330032P03Rik

MMRRC Submission

040836-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3961 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84458156-84563042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84520166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 694 (M694T)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077175
AA Change: M694T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: M694T

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Bicral	T	C	17: 47,135,751 (GRCm39)	I486M	probably damaging	Het
Btbd1	C	A	7: 81,468,083 (GRCm39)	E146*	probably null	Het
Cdcp1	T	C	9: 123,011,446 (GRCm39)	T344A	possibly damaging	Het
Cenpm	A	T	15: 82,118,574 (GRCm39)	L180Q	possibly damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Dazl	A	G	17: 50,595,161 (GRCm39)	V91A	probably damaging	Het
Dsc2	C	T	18: 20,184,284 (GRCm39)	V35I	probably damaging	Het
Fras1	T	C	5: 96,825,244 (GRCm39)		probably null	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Minar1	G	A	9: 89,483,963 (GRCm39)	T478I	probably damaging	Het
Mme	T	A	3: 63,252,613 (GRCm39)	M419K	probably damaging	Het
Ncan	G	A	8: 70,562,950 (GRCm39)	T436M	probably benign	Het
Nphp3	G	T	9: 103,880,241 (GRCm39)	E88*	probably null	Het
Or5ak23	T	C	2: 85,245,216 (GRCm39)	I2M	possibly damaging	Het
Pdcl	T	C	2: 37,242,199 (GRCm39)	M184V	probably benign	Het
Pramel12	T	A	4: 143,145,888 (GRCm39)	N452K	probably benign	Het
Prkdc	T	G	16: 15,647,475 (GRCm39)		probably null	Het
Prss35	A	G	9: 86,637,802 (GRCm39)	M191V	probably benign	Het
Rtn3	T	C	19: 7,435,510 (GRCm39)	S142G	probably damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Taf7	A	G	18: 37,776,174 (GRCm39)	V131A	probably benign	Het
Tesk1	A	G	4: 43,445,133 (GRCm39)		probably null	Het
Tmem131	C	T	1: 36,858,031 (GRCm39)	D741N	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Tpte	A	G	8: 22,849,431 (GRCm39)	S553G	probably damaging	Het
Trpv3	A	T	11: 73,178,246 (GRCm39)	K438*	probably null	Het
Vmn2r107	G	A	17: 20,595,717 (GRCm39)	G757R	probably damaging	Het

Other mutations in Polr3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Polr3b	APN	10	84,512,854 (GRCm39)	missense	probably benign
IGL00848:Polr3b	APN	10	84,516,241 (GRCm39)	missense	probably damaging	1.00
IGL00901:Polr3b	APN	10	84,467,660 (GRCm39)	missense	possibly damaging	0.94
IGL01313:Polr3b	APN	10	84,561,607 (GRCm39)	missense	probably damaging	1.00
IGL01364:Polr3b	APN	10	84,531,533 (GRCm39)	missense	probably benign	0.00
IGL01731:Polr3b	APN	10	84,467,704 (GRCm39)	nonsense	probably null
IGL03326:Polr3b	APN	10	84,503,259 (GRCm39)	missense	probably benign	0.43
IGL03369:Polr3b	APN	10	84,512,816 (GRCm39)	missense	probably damaging	1.00
etruscan	UTSW	10	84,468,402 (GRCm39)	missense	probably benign	0.00
pennyweight	UTSW	10	84,549,496 (GRCm39)	missense	probably damaging	1.00
pinhead	UTSW	10	84,491,855 (GRCm39)	missense	probably damaging	1.00
G5538:Polr3b	UTSW	10	84,467,658 (GRCm39)	missense	probably benign	0.21
PIT4382001:Polr3b	UTSW	10	84,520,049 (GRCm39)	missense	probably damaging	1.00
R0180:Polr3b	UTSW	10	84,458,379 (GRCm39)	missense	probably benign
R0270:Polr3b	UTSW	10	84,554,339 (GRCm39)	missense	probably benign	0.02
R0541:Polr3b	UTSW	10	84,473,928 (GRCm39)	missense	probably damaging	1.00
R0890:Polr3b	UTSW	10	84,550,200 (GRCm39)	missense	probably benign	0.01
R1302:Polr3b	UTSW	10	84,468,350 (GRCm39)	missense	probably damaging	0.97
R1511:Polr3b	UTSW	10	84,516,249 (GRCm39)	missense	probably benign
R1561:Polr3b	UTSW	10	84,470,776 (GRCm39)	missense	probably damaging	1.00
R1607:Polr3b	UTSW	10	84,488,647 (GRCm39)	missense	probably benign	0.00
R1624:Polr3b	UTSW	10	84,515,669 (GRCm39)	missense	probably damaging	0.98
R1809:Polr3b	UTSW	10	84,528,865 (GRCm39)	missense	probably damaging	1.00
R1830:Polr3b	UTSW	10	84,528,786 (GRCm39)	nonsense	probably null
R2973:Polr3b	UTSW	10	84,464,144 (GRCm39)	missense	probably benign	0.00
R3401:Polr3b	UTSW	10	84,535,355 (GRCm39)	missense	probably damaging	0.96
R3876:Polr3b	UTSW	10	84,556,382 (GRCm39)	critical splice donor site	probably null
R4664:Polr3b	UTSW	10	84,550,233 (GRCm39)	missense	probably damaging	1.00
R4721:Polr3b	UTSW	10	84,491,867 (GRCm39)	missense	possibly damaging	0.56
R4972:Polr3b	UTSW	10	84,473,988 (GRCm39)	missense	probably damaging	1.00
R5065:Polr3b	UTSW	10	84,468,402 (GRCm39)	missense	probably benign	0.00
R5264:Polr3b	UTSW	10	84,503,280 (GRCm39)	missense	probably benign	0.02
R5302:Polr3b	UTSW	10	84,535,264 (GRCm39)	missense	possibly damaging	0.59
R5795:Polr3b	UTSW	10	84,464,116 (GRCm39)	missense	probably benign
R5795:Polr3b	UTSW	10	84,512,875 (GRCm39)	missense	probably damaging	0.97
R5838:Polr3b	UTSW	10	84,510,454 (GRCm39)	missense	probably benign	0.09
R6419:Polr3b	UTSW	10	84,473,975 (GRCm39)	missense	possibly damaging	0.78
R6568:Polr3b	UTSW	10	84,470,767 (GRCm39)	missense	probably damaging	1.00
R6787:Polr3b	UTSW	10	84,464,489 (GRCm39)	critical splice acceptor site	probably null
R6913:Polr3b	UTSW	10	84,549,496 (GRCm39)	missense	probably damaging	1.00
R7405:Polr3b	UTSW	10	84,520,043 (GRCm39)	missense	probably benign
R7456:Polr3b	UTSW	10	84,458,355 (GRCm39)	missense	probably benign
R7657:Polr3b	UTSW	10	84,491,855 (GRCm39)	missense	probably damaging	1.00
R8074:Polr3b	UTSW	10	84,549,523 (GRCm39)	missense	probably damaging	1.00
R8082:Polr3b	UTSW	10	84,491,927 (GRCm39)	missense	probably damaging	1.00
R8127:Polr3b	UTSW	10	84,515,653 (GRCm39)	missense	probably benign
R8676:Polr3b	UTSW	10	84,516,251 (GRCm39)	missense	probably benign	0.00
R8744:Polr3b	UTSW	10	84,464,488 (GRCm39)	splice site	probably benign
R8797:Polr3b	UTSW	10	84,532,879 (GRCm39)	nonsense	probably null
R8866:Polr3b	UTSW	10	84,531,555 (GRCm39)	missense	probably benign	0.14
R9006:Polr3b	UTSW	10	84,467,697 (GRCm39)	missense	probably benign	0.05
R9397:Polr3b	UTSW	10	84,467,653 (GRCm39)	missense	possibly damaging	0.93
R9509:Polr3b	UTSW	10	84,467,650 (GRCm39)	missense	probably damaging	1.00
X0066:Polr3b	UTSW	10	84,549,559 (GRCm39)	missense	probably damaging	0.97
Z1177:Polr3b	UTSW	10	84,550,157 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGCTTGCTATCTGAACTGC -3'
(R):5'- CTCACACTTTTCAGGGATTTGATG -3'

Sequencing Primer
(F):5'- GCTTGCTATCTGAACTGCTGAAATCG -3'
(R):5'- ACCTGCAACTTTGTTGGCTAAG -3'

Posted On

2015-04-29