Mutagenetix > Incidental Mutation

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

2700078H01Rik, RPC2, A330032P03Rik

MMRRC Submission

068836-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9006 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84458156-84563042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84467697 bp (GRCm39)

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

97% (72/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,665,820 (GRCm39)	N267D	probably benign	Het
Akap1	A	T	11: 88,723,996 (GRCm39)	M803K	possibly damaging	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Ankrd31	T	C	13: 96,967,104 (GRCm39)	F528L	probably benign	Het
Arhgef10l	A	G	4: 140,271,659 (GRCm39)	Y624H	probably benign	Het
Bltp2	T	C	11: 78,164,345 (GRCm39)	F1182L	possibly damaging	Het
Cfap73	G	A	5: 120,767,760 (GRCm39)	Q264*	probably null	Het
Clca3a2	C	A	3: 144,783,789 (GRCm39)	A609S	probably damaging	Het
Cntfr	A	T	4: 41,661,971 (GRCm39)		probably null	Het
Cyp2c65	C	T	19: 39,070,714 (GRCm39)	T299I	probably damaging	Het
Cyp2j5	G	T	4: 96,552,149 (GRCm39)	N33K	probably benign	Het
Dhcr7	T	A	7: 143,394,978 (GRCm39)	S165T	probably benign	Het
Dnah10	A	T	5: 124,820,783 (GRCm39)	D539V	probably benign	Het
Ebag9	A	T	15: 44,503,703 (GRCm39)	Q176L	probably benign	Het
Fbxw20	T	A	9: 109,062,530 (GRCm39)		probably benign	Het
Ftmt	A	G	18: 52,465,112 (GRCm39)	K143E	possibly damaging	Het
Gcc2	C	T	10: 58,103,801 (GRCm39)	R76C	probably damaging	Het
Gcn1	A	G	5: 115,719,566 (GRCm39)	T354A	probably benign	Het
Gtf2h1	A	G	7: 46,458,262 (GRCm39)	M271V	probably benign	Het
Iah1	G	A	12: 21,367,402 (GRCm39)	G36D	probably damaging	Het
Ism2	G	T	12: 87,326,969 (GRCm39)	D323E	probably damaging	Het
Itih4	A	G	14: 30,612,086 (GRCm39)	I184V	probably damaging	Het
Kdm4d	C	A	9: 14,374,833 (GRCm39)	V342L	probably benign	Het
Lmbr1	A	G	5: 29,551,900 (GRCm39)	F62L	probably benign	Het
Lmo7	TCGGATTCTGTGGC	TC	14: 102,155,072 (GRCm39)		probably benign	Het
Lypd8	T	A	11: 58,277,586 (GRCm39)	S123T	possibly damaging	Het
Mical2	T	A	7: 111,981,323 (GRCm39)	N432K	probably benign	Het
Mrgprb4	A	G	7: 47,848,343 (GRCm39)	V195A	probably benign	Het
Ms4a4c	A	T	19: 11,396,360 (GRCm39)	I106F	probably benign	Het
Myo6	A	G	9: 80,136,140 (GRCm39)	T88A	unknown	Het
Naa35	A	G	13: 59,748,842 (GRCm39)	D158G	possibly damaging	Het
Nol12	A	G	15: 78,824,291 (GRCm39)	E137G	possibly damaging	Het
Nsun4	A	G	4: 115,897,316 (GRCm39)	S232P	probably damaging	Het
Odad2	A	T	18: 7,294,516 (GRCm39)	N32K	probably benign	Het
Odam	A	T	5: 88,040,298 (GRCm39)	I255L	probably benign	Het
Or14j8	A	T	17: 38,263,545 (GRCm39)	Y123*	probably null	Het
Or1ad8	A	T	11: 50,897,975 (GRCm39)	M59L	probably damaging	Het
Or1e26	T	A	11: 73,480,036 (GRCm39)	H176L	probably benign	Het
Or2n1d	T	C	17: 38,646,723 (GRCm39)	V225A	possibly damaging	Het
Or2w3b	G	A	11: 58,623,188 (GRCm39)	Q268*	probably null	Het
Or4b1	T	G	2: 89,980,327 (GRCm39)	T8P	probably damaging	Het
Pcnx2	T	C	8: 126,613,996 (GRCm39)	D485G	probably benign	Het
Rpgrip1l	T	A	8: 92,007,436 (GRCm39)	M385L	probably benign	Het
Sdk1	A	T	5: 141,923,321 (GRCm39)	N314I	probably damaging	Het
Shc4	T	C	2: 125,514,394 (GRCm39)		probably benign	Het
Slc45a1	A	C	4: 150,722,731 (GRCm39)	C384W	probably damaging	Het
Slc4a11	C	T	2: 130,532,773 (GRCm39)	V227M	probably damaging	Het
Sorbs2	A	C	8: 46,258,858 (GRCm39)	S1132R	possibly damaging	Het
Spata31e3	G	A	13: 50,401,589 (GRCm39)	H246Y	possibly damaging	Het
Spata31f1e	C	T	4: 42,792,546 (GRCm39)	G529S	probably benign	Het
Spta1	T	A	1: 174,047,537 (GRCm39)	I1727K	probably damaging	Het
Srgap2	T	C	1: 131,283,307 (GRCm39)	E258G	probably damaging	Het
Taco1	A	T	11: 105,956,931 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,909,301 (GRCm39)	M648K	possibly damaging	Het
Taf7	A	G	18: 37,775,757 (GRCm39)	V270A	probably benign	Het
Tbkbp1	G	A	11: 97,029,707 (GRCm39)	T483I	unknown	Het
Tesc	A	G	5: 118,184,378 (GRCm39)		probably null	Het
Tgs1	A	G	4: 3,595,427 (GRCm39)	N532S	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem196	T	A	12: 119,978,510 (GRCm39)	C84S	probably damaging	Het
Topbp1	C	T	9: 103,182,499 (GRCm39)		probably benign	Het
Ttc16	A	G	2: 32,652,985 (GRCm39)	S615P	probably benign	Het
Ttc21a	T	A	9: 119,792,130 (GRCm39)		probably benign	Het
Tuba3b	T	C	6: 145,565,564 (GRCm39)	V344A	possibly damaging	Het
Tubgcp4	T	C	2: 121,015,251 (GRCm39)	F320L	probably benign	Het
Tusc3	T	A	8: 39,538,627 (GRCm39)	L222*	probably null	Het
Ubr4	G	A	4: 139,172,003 (GRCm39)		probably null	Het
Uncx	G	T	5: 139,532,936 (GRCm39)	V334L	possibly damaging	Het
Vezf1	C	A	11: 87,965,542 (GRCm39)	F261L	probably damaging	Het
Vezt	T	A	10: 93,809,874 (GRCm39)	I556L	probably benign	Het
Vmn1r172	C	T	7: 23,359,402 (GRCm39)	R96C	probably benign	Het
Zfp383	A	G	7: 29,608,070 (GRCm39)	M1V	probably null	Het
Zfp558	A	T	9: 18,367,776 (GRCm39)	S337R	possibly damaging	Het
Zranb1	T	A	7: 132,572,909 (GRCm39)		probably benign	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
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
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'- CTATGAACTGTCACTTCAAGAAGGTAG -3'
(R):5'- ACAACAGGGTCTGAGATTTTCAAG -3'

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

Posted On

2021-10-11