Mutagenetix > Incidental Mutation

Incidental Mutation 'R7033:Polr1b'

546429

Institutional Source

Beutler Lab

Gene Symbol

Polr1b

Ensembl Gene

ENSMUSG00000027395

Gene Name

polymerase (RNA) I polypeptide B

Synonyms

128kDa, RPA116, RPA2, D630020H17Rik, Rpo1-2

MMRRC Submission

045134-MU

Accession Numbers

Ncbi RefSeq: NM_009086.2; MGI:108014

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7033 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129100995-129126594 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129115642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 539 (V539A)

Ref Sequence

ENSEMBL: ENSMUSP00000028874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028874] [ENSMUST00000103205]

AlphaFold

P70700

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028874
AA Change: V539A

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395
AA Change: V539A

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_Rpb2_1	37	437	4.6e-35	PFAM
Pfam:RNA_pol_Rpb2_2	186	375	8.9e-14	PFAM
Pfam:RNA_pol_Rpb2_3	455	521	1.4e-28	PFAM
Pfam:RNA_pol_Rpa2_4	563	621	3.6e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103205
AA Change: V539A

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: V539A

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_Rpb2_1	37	423	1.7e-35	PFAM
Pfam:RNA_pol_Rpb2_2	186	375	3.2e-11	PFAM
Pfam:RNA_pol_Rpb2_3	455	520	2.1e-29	PFAM
Pfam:RNA_pol_Rpa2_4	563	621	4.1e-23	PFAM
Pfam:RNA_pol_Rpb2_6	670	1031	9.7e-118	PFAM
Pfam:RNA_pol_Rpb2_7	1033	1135	1.2e-22	PFAM

Meta Mutation Damage Score

0.0808

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (70/73)

MGI Phenotype

Strain: 3774130
Lethality: E2-E4
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality prior to implantation. [provided by MGI curators]

Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	G	14: 41,997,417	Y105C	probably damaging	Het
2610301B20Rik	A	G	4: 10,898,014	T199A	probably benign	Het
Acr	T	C	15: 89,569,500	S81P	probably benign	Het
Akr1c14	T	C	13: 4,079,178		probably null	Het
Ank2	C	A	3: 126,944,850	E2375*	probably null	Het
Avpi1	A	G	19: 42,124,977	W14R	probably damaging	Het
Brd4	A	G	17: 32,199,015	V55A	probably benign	Het
Casp8ap2	A	G	4: 32,639,392	N149D	probably damaging	Het
Ccl25	A	T	8: 4,349,641		probably benign	Het
Celf5	A	G	10: 81,462,714	L299P	probably damaging	Het
Cfap57	T	G	4: 118,613,126	T186P	possibly damaging	Het
Chrm4	A	G	2: 91,928,347	M367V	probably benign	Het
Col1a2	A	T	6: 4,516,904		probably benign	Het
Crybg3	G	A	16: 59,554,165	P2242L	probably damaging	Het
Cspg4	T	C	9: 56,888,074	V1031A	probably damaging	Het
Dbnl	C	A	11: 5,798,102	P313T	probably benign	Het
Dnah1	A	G	14: 31,264,925	F3637L	probably damaging	Het
Dnah7a	A	T	1: 53,479,661	I2979N	probably damaging	Het
Dusp10	T	C	1: 184,037,605	V256A	possibly damaging	Het
Erlin2	T	C	8: 27,031,764	V164A	probably benign	Het
Fam110a	T	C	2: 151,970,211	D213G	probably damaging	Het
Fkbp1a	T	C	2: 151,557,500		probably null	Het
Foxg1	G	A	12: 49,384,720		probably benign	Het
Gm12185	T	C	11: 48,915,999	S122G	probably benign	Het
Gm2042	A	T	12: 87,960,281	D456V	probably damaging	Het
Gm8857	G	T	5: 10,950,551		probably null	Het
Grin2b	A	G	6: 135,923,038	Y282H	probably damaging	Het
Gys2	T	C	6: 142,472,722	D27G	probably benign	Het
H2-DMa	T	A	17: 34,136,997		probably null	Het
Hectd4	T	A	5: 121,364,568	I4245N	possibly damaging	Het
Incenp	A	G	19: 9,893,372	Y298H	unknown	Het
Ints2	C	T	11: 86,233,085	G626R	probably damaging	Het
Kifc1	A	T	17: 33,883,697	V314E	probably damaging	Het
Lurap1l	C	T	4: 80,911,367	P5S	probably benign	Het
Mtmr11	A	G	3: 96,169,946	Y540C	probably damaging	Het
Muc4	C	A	16: 32,756,324		probably benign	Het
Myh13	A	G	11: 67,369,316	E1860G	possibly damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Nbeal1	G	A	1: 60,310,947	G2385D	probably damaging	Het
Ncaph2	G	A	15: 89,371,356	A578T	probably benign	Het
Ncr1	T	C	7: 4,338,145	V8A	possibly damaging	Het
Nutm1	T	C	2: 112,256,168	T73A	probably damaging	Het
Olfm1	G	A	2: 28,229,336	D313N	probably damaging	Het
Olfr1196	T	A	2: 88,700,820	N170Y	probably damaging	Het
Olfr275	A	G	4: 52,826,089	M231V	probably benign	Het
Olfr749	A	G	14: 50,736,707	F152L	possibly damaging	Het
Otog	T	A	7: 46,267,398		probably null	Het
Peak1	G	T	9: 56,259,707	D312E	probably damaging	Het
Plekhg1	T	C	10: 3,940,251	I331T	probably damaging	Het
Polr2a	A	T	11: 69,747,213	H143Q	possibly damaging	Het
Ppargc1b	G	T	18: 61,307,714	A711D	probably damaging	Het
Prnd	T	A	2: 131,953,442	C161S	possibly damaging	Het
Prrt4	A	G	6: 29,171,148	L435P	possibly damaging	Het
Psen2	C	T	1: 180,227,520		probably null	Het
Psg23	T	C	7: 18,614,744	E46G	possibly damaging	Het
Rasgef1b	C	T	5: 99,232,336	R350H	probably damaging	Het
Rfxank	G	C	8: 70,138,170	P16A	probably benign	Het
Sema6a	A	G	18: 47,248,570	I944T	probably damaging	Het
Serpinc1	A	G	1: 160,997,521	T313A	probably benign	Het
Slc27a4	T	C	2: 29,804,271	S36P	possibly damaging	Het
Slc36a1	C	A	11: 55,223,737	R214S	probably benign	Het
Sorl1	C	T	9: 42,030,983	S982N	possibly damaging	Het
Syt1	A	C	10: 108,690,936	D37E	probably benign	Het
Tcl1b5	A	T	12: 105,176,491	D26V	probably damaging	Het
Tenm4	A	T	7: 96,895,223	K2149*	probably null	Het
Ubc	T	A	5: 125,388,174	I30F	probably damaging	Het
Ugt1a7c	A	T	1: 88,095,528	E136D	possibly damaging	Het
Utp20	A	G	10: 88,754,475		probably null	Het
Vmn1r159	C	T	7: 22,842,864	V248I	probably damaging	Het
Vmn2r105	T	C	17: 20,208,612	H734R	probably damaging	Het
Wdr60	T	C	12: 116,211,891	M889V	probably benign	Het
Xrcc2	T	G	5: 25,692,709	I81L	possibly damaging	Het
Zfat	A	C	15: 68,181,015	I310S	probably damaging	Het
Zfp119a	A	G	17: 55,866,009	V278A	probably benign	Het
Zfp53	A	G	17: 21,500,246	K33E	probably benign	Het
Zfp866	G	T	8: 69,765,841	H376Q	probably damaging	Het

Other mutations in Polr1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Polr1b	APN	2	129125909	missense	probably damaging	1.00
IGL00559:Polr1b	APN	2	129113731	missense	probably damaging	1.00
IGL00659:Polr1b	APN	2	129118100	critical splice donor site	probably null
IGL00672:Polr1b	APN	2	129125472	missense	probably damaging	1.00
IGL01066:Polr1b	APN	2	129119152	missense	probably damaging	1.00
IGL01536:Polr1b	APN	2	129125555	missense	probably benign	0.00
IGL01596:Polr1b	APN	2	129110126	missense	probably benign	0.38
IGL02156:Polr1b	APN	2	129123879	missense	probably benign	0.40
IGL02398:Polr1b	APN	2	129102966	missense	probably benign	0.03
IGL02797:Polr1b	APN	2	129102979	missense	probably damaging	0.99
IGL02965:Polr1b	APN	2	129125523	missense	probably benign	0.41
IGL03009:Polr1b	APN	2	129126068	missense	probably damaging	1.00
IGL03092:Polr1b	APN	2	129123129	missense	probably damaging	1.00
IGL03129:Polr1b	APN	2	129115707	missense	probably benign	0.00
IGL03138:Polr1b	UTSW	2	129102988	missense	probably benign	0.04
PIT4362001:Polr1b	UTSW	2	129109292	missense	possibly damaging	0.84
R0038:Polr1b	UTSW	2	129115668	nonsense	probably null
R0038:Polr1b	UTSW	2	129115668	nonsense	probably null
R0989:Polr1b	UTSW	2	129126077	missense	probably damaging	0.97
R1508:Polr1b	UTSW	2	129113734	missense	probably benign	0.24
R1539:Polr1b	UTSW	2	129118099	critical splice donor site	probably null
R1700:Polr1b	UTSW	2	129123121	missense	probably damaging	0.99
R1843:Polr1b	UTSW	2	129102966	missense	probably benign	0.03
R1920:Polr1b	UTSW	2	129101111	missense	probably benign	0.00
R2414:Polr1b	UTSW	2	129103134	splice site	probably benign
R3020:Polr1b	UTSW	2	129115681	missense	probably benign	0.01
R3837:Polr1b	UTSW	2	129119107	missense	possibly damaging	0.78
R4466:Polr1b	UTSW	2	129123882	missense	probably benign	0.03
R4773:Polr1b	UTSW	2	129105328	missense	probably benign	0.29
R4789:Polr1b	UTSW	2	129109337	missense	probably benign	0.00
R5027:Polr1b	UTSW	2	129123883	missense	possibly damaging	0.94
R5579:Polr1b	UTSW	2	129110108	missense	probably damaging	1.00
R5705:Polr1b	UTSW	2	129105351	nonsense	probably null
R6303:Polr1b	UTSW	2	129115762	missense	probably damaging	1.00
R6313:Polr1b	UTSW	2	129125446	missense	probably damaging	1.00
R6427:Polr1b	UTSW	2	129123261	missense	probably damaging	0.99
R6677:Polr1b	UTSW	2	129120211	intron	probably benign
R7163:Polr1b	UTSW	2	129126011	missense	probably benign	0.44
R7184:Polr1b	UTSW	2	129123922	missense	possibly damaging	0.94
R7376:Polr1b	UTSW	2	129119073	missense	probably benign	0.00
R7453:Polr1b	UTSW	2	129125663	missense	probably damaging	1.00
R7545:Polr1b	UTSW	2	129117846	splice site	probably null
R7770:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7772:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7774:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7776:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7777:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7814:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7825:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7826:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7827:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7828:Polr1b	UTSW	2	129105280	missense	probably damaging	1.00
R7959:Polr1b	UTSW	2	129108094	missense	probably damaging	1.00
R8082:Polr1b	UTSW	2	129115732	missense	probably benign	0.18
R8251:Polr1b	UTSW	2	129123166	missense	probably damaging	1.00
R8696:Polr1b	UTSW	2	129125651	missense	probably damaging	1.00
R8711:Polr1b	UTSW	2	129101144	missense	probably damaging	0.99
R8746:Polr1b	UTSW	2	129112677	missense	possibly damaging	0.70
R8823:Polr1b	UTSW	2	129125537	missense	probably damaging	1.00
R8872:Polr1b	UTSW	2	129115693	missense	probably damaging	1.00
R8901:Polr1b	UTSW	2	129125675	missense	probably damaging	1.00
R8963:Polr1b	UTSW	2	129115656	missense	probably benign
R9488:Polr1b	UTSW	2	129125497	missense	probably damaging	1.00
R9499:Polr1b	UTSW	2	129115764	nonsense	probably null
R9550:Polr1b	UTSW	2	129120285	missense	unknown
R9551:Polr1b	UTSW	2	129115764	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTTAGGAATCCGCGTGTGC -3'
(R):5'- CACTTCATCAACTAGGAAAGGC -3'

Sequencing Primer
(F):5'- CCCAGCCATCTTCTCACAGGAG -3'
(R):5'- TTCATCAACTAGGAAAGGCTGAGAAC -3'

Posted On

2019-05-13