Mutagenetix > Incidental Mutation

Incidental Mutation 'R1624:Polr3b'

174902

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

039661-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84458156-84563042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84515669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 614 (L614S)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

probably damaging
Transcript: ENSMUST00000077175
AA Change: L614S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: L614S

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 91.4%

Validation Efficiency

99% (90/91)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,472,496 (GRCm39)	Y68C	probably damaging	Het
6820408C15Rik	A	T	2: 152,276,031 (GRCm39)	H81L	probably damaging	Het
Acbd4	A	G	11: 102,994,785 (GRCm39)	T48A	probably damaging	Het
Acp3	T	A	9: 104,197,200 (GRCm39)	E146D	probably benign	Het
Acsm1	T	A	7: 119,251,796 (GRCm39)	I307N	probably damaging	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agl	T	C	3: 116,580,895 (GRCm39)	T356A	probably benign	Het
Ago1	A	G	4: 126,357,534 (GRCm39)	I47T	probably damaging	Het
Akr1c6	T	A	13: 4,496,363 (GRCm39)	Y75N	probably benign	Het
Anxa2	T	A	9: 69,386,990 (GRCm39)	S92T	probably benign	Het
Arid4b	T	C	13: 14,358,979 (GRCm39)	S585P	probably damaging	Het
Arl4d	T	C	11: 101,557,842 (GRCm39)	S123P	possibly damaging	Het
Atad2	A	T	15: 57,963,415 (GRCm39)	D1067E	probably damaging	Het
Brap	C	A	5: 121,820,922 (GRCm39)	T403K	possibly damaging	Het
Brwd1	A	T	16: 95,809,344 (GRCm39)	N1895K	possibly damaging	Het
Ccdc187	T	C	2: 26,171,087 (GRCm39)	T464A	probably benign	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cdh11	T	C	8: 103,391,233 (GRCm39)		probably benign	Het
Chd9	A	T	8: 91,725,163 (GRCm39)	Y691F	probably benign	Het
Clhc1	A	T	11: 29,519,287 (GRCm39)	I365F	possibly damaging	Het
Col11a1	A	G	3: 113,951,804 (GRCm39)	Q1078R	probably damaging	Het
Creb3	G	A	4: 43,566,375 (GRCm39)	V294I	possibly damaging	Het
Cspg4	T	C	9: 56,795,754 (GRCm39)	I1163T	probably damaging	Het
Cyp3a57	A	C	5: 145,327,225 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,618,918 (GRCm39)	I1661N	probably damaging	Het
Dpysl4	A	C	7: 138,669,469 (GRCm39)	D49A	probably damaging	Het
Efhb	T	A	17: 53,733,306 (GRCm39)	I522F	probably damaging	Het
Epha4	T	C	1: 77,376,329 (GRCm39)	T517A	probably damaging	Het
Fasn	A	G	11: 120,703,937 (GRCm39)	S1466P	probably damaging	Het
Fgd6	A	T	10: 93,973,298 (GRCm39)	D1253V	probably benign	Het
Fjx1	G	A	2: 102,281,509 (GRCm39)	A142V	probably benign	Het
Foxb1	T	C	9: 69,666,598 (GRCm39)	T311A	probably benign	Het
Fpgs	A	G	2: 32,581,200 (GRCm39)		probably null	Het
Gm10024	A	G	10: 77,547,606 (GRCm39)		probably null	Het
Gnat3	A	T	5: 18,208,841 (GRCm39)	T182S	possibly damaging	Het
Igsf3	T	A	3: 101,362,543 (GRCm39)	F875I	probably benign	Het
Kif13b	A	G	14: 64,976,068 (GRCm39)	E461G	probably damaging	Het
Kif23	A	T	9: 61,832,982 (GRCm39)		probably null	Het
Kntc1	G	A	5: 123,896,540 (GRCm39)	R134Q	possibly damaging	Het
Krt33a	A	T	11: 99,905,072 (GRCm39)	Y145N	probably damaging	Het
Lama5	A	G	2: 179,848,551 (GRCm39)	V313A	probably benign	Het
Lamb1	T	C	12: 31,328,651 (GRCm39)		probably null	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mtor	C	T	4: 148,632,133 (GRCm39)	L2336F	probably damaging	Het
Naglu	T	C	11: 100,967,351 (GRCm39)	S434P	probably damaging	Het
Ncoa7	T	A	10: 30,580,655 (GRCm39)	H101L	possibly damaging	Het
Nlrc4	G	A	17: 74,752,184 (GRCm39)	T733I	possibly damaging	Het
Nr3c2	A	G	8: 77,636,573 (GRCm39)	E558G	probably damaging	Het
Nsun4	A	T	4: 115,891,397 (GRCm39)	N327K	probably benign	Het
Or11g27	A	G	14: 50,771,100 (GRCm39)	Y77C	probably damaging	Het
Or1x2	T	C	11: 50,917,952 (GRCm39)	V41A	probably damaging	Het
Or2m13	T	A	16: 19,226,454 (GRCm39)	Y104F	probably benign	Het
Or4f6	T	A	2: 111,838,877 (GRCm39)	Y218F	probably damaging	Het
Or6b13	T	C	7: 139,781,864 (GRCm39)	N273S	probably damaging	Het
Pdia2	T	A	17: 26,415,495 (GRCm39)	I441F	probably damaging	Het
Phyh	T	C	2: 4,930,494 (GRCm39)	S74P	probably benign	Het
Pigo	A	G	4: 43,024,661 (GRCm39)	L146P	probably damaging	Het
Plce1	A	G	19: 38,713,219 (GRCm39)	D1191G	probably damaging	Het
Plrg1	T	C	3: 82,975,301 (GRCm39)		probably benign	Het
Plrg1	G	A	3: 82,977,051 (GRCm39)	R364Q	probably damaging	Het
Pramel16	A	T	4: 143,676,400 (GRCm39)	C235S	possibly damaging	Het
Prrg4	A	G	2: 104,663,027 (GRCm39)	V193A	probably damaging	Het
Prss16	T	A	13: 22,187,483 (GRCm39)	E47V	probably benign	Het
Ptpru	G	A	4: 131,499,861 (GRCm39)	T1261I	probably damaging	Het
Pycard	A	G	7: 127,591,970 (GRCm39)	S124P	possibly damaging	Het
Riok1	C	A	13: 38,221,487 (GRCm39)	D17E	probably damaging	Het
Scin	T	A	12: 40,177,929 (GRCm39)	Y102F	probably benign	Het
Scmh1	A	G	4: 120,386,425 (GRCm39)	H655R	probably damaging	Het
Scyl2	A	T	10: 89,476,598 (GRCm39)	N842K	probably benign	Het
Sec23b	T	A	2: 144,409,049 (GRCm39)	M211K	probably benign	Het
Serpina3i	A	C	12: 104,234,897 (GRCm39)	*409C	probably null	Het
Sgk2	G	A	2: 162,839,779 (GRCm39)	R129H	probably benign	Het
Slc39a13	A	G	2: 90,898,871 (GRCm39)	I80T	probably damaging	Het
Smarcad1	A	G	6: 65,029,631 (GRCm39)	D73G	probably benign	Het
Spata18	A	C	5: 73,826,888 (GRCm39)	T276P	probably damaging	Het
Srgap1	T	G	10: 121,691,278 (GRCm39)	M319L	probably benign	Het
Stx7	T	A	10: 24,060,903 (GRCm39)	V210E	probably damaging	Het
Tjp2	T	A	19: 24,108,776 (GRCm39)	H112L	probably benign	Het
Tuba8	A	T	6: 121,197,385 (GRCm39)	I16F	probably damaging	Het
Ube3c	G	A	5: 29,851,617 (GRCm39)	A815T	probably benign	Het
Vmn2r5	A	T	3: 64,417,116 (GRCm39)	V14E	probably benign	Het
Vmn2r79	A	T	7: 86,653,247 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,343,018 (GRCm39)	T466A	possibly 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
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
R3961:Polr3b	UTSW	10	84,520,166 (GRCm39)	missense	possibly damaging	0.89
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'- TGTCGTCAAGCAACCAGAGCAAG -3'
(R):5'- CACATTAGCAGTGTGTCTACAGGGG -3'

Sequencing Primer
(F):5'- AGAGCAAGCTGTGTGTCTCC -3'
(R):5'- GGTGAGCACTTCATCACATGC -3'

Posted On

2014-04-24