Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Polr1b'

554602

Institutional Source

Beutler Lab

Gene Symbol

Polr1b

Ensembl Gene

ENSMUSG00000027395

Gene Name

polymerase (RNA) I polypeptide B

Synonyms

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

Accession Numbers

Ncbi RefSeq: NM_009086.2; MGI:108014

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4362001 (G1)

Quality Score

139.008

Status

Not validated

Chromosome

Chromosomal Location

129100995-129126594 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129109292 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 275 (D275G)

Ref Sequence

ENSEMBL: ENSMUSP00000099494 (fasta)

Gene Model

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

AlphaFold

P70700

Predicted Effect

probably damaging
Transcript: ENSMUST00000028874
AA Change: D275G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395
AA Change: D275G

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: D275G

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: D275G

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

Coding Region Coverage

1x: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,064,424	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,079,100	V165A	probably damaging	Het
Aox2	A	T	1: 58,282,680	T44S	probably damaging	Het
Arhgap29	T	A	3: 122,003,212	N482K	probably benign	Het
Arhgef38	T	A	3: 133,160,830	D182V		Het
Atad5	C	T	11: 80,111,567	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,885,256	S147P	possibly damaging	Het
Cblb	T	A	16: 52,139,542	Y299*	probably null	Het
Ccdc28b	T	C	4: 129,621,025	N97S	probably benign	Het
Cdh23	A	G	10: 60,465,458	V479A	probably benign	Het
Chuk	A	G	19: 44,098,583		probably null	Het
Cmtr2	G	A	8: 110,222,336	G426D	probably damaging	Het
Cog4	G	A	8: 110,866,672	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472	L193*	probably null	Het
Cxcr6	A	T	9: 123,810,461	I183F	probably benign	Het
Dbf4	A	G	5: 8,403,664	F253L	probably benign	Het
Dcaf8	T	C	1: 172,172,797	V174A	probably damaging	Het
Ddhd2	T	C	8: 25,735,752	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,763,565	V33A	probably benign	Het
Egfl7	C	T	2: 26,591,040	P188L	probably benign	Het
Ephb3	A	G	16: 21,220,857	E707G	probably damaging	Het
Epn3	C	T	11: 94,496,523	R7H	probably damaging	Het
Fam198b	C	A	3: 79,886,939	S238Y	possibly damaging	Het
Fbp1	T	A	13: 62,867,380	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,918,688	R177*	probably null	Het
Gbp5	T	C	3: 142,500,710	S52P	probably damaging	Het
Glb1l2	A	T	9: 26,773,981	S282T	probably benign	Het
Glg1	A	T	8: 111,258,799	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,377,175	L736F	probably benign	Het
Gm5565	A	T	5: 146,158,299	S212R	probably benign	Het
Grin2c	T	C	11: 115,249,633	T1220A	probably benign	Het
Grp	T	G	18: 65,886,226	S133A	probably benign	Het
Gstp2	C	A	19: 4,040,713	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,791,408	F84L	probably damaging	Het
Inppl1	T	C	7: 101,826,013	R944G	probably benign	Het
Lama2	A	T	10: 27,369,136	N216K	probably damaging	Het
Lrp2	T	A	2: 69,537,538	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,962,540	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 103,071,194	I1555T	probably benign	Het
Map2	G	A	1: 66,412,518	G189D	probably benign	Het
Mdc1	A	G	17: 35,844,469	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,797,768	D152G	possibly damaging	Het
Med23	A	G	10: 24,874,571	M99V	probably benign	Het
Mutyh	G	A	4: 116,817,070	V273M	probably damaging	Het
Neurod2	T	A	11: 98,327,882	Y152F	probably damaging	Het
Olfr1002	A	C	2: 85,647,724	L199R	probably damaging	Het
Olfr1177-ps	C	T	2: 88,344,013	A247T	probably benign	Het
Olfr898	G	T	9: 38,349,198	L32F	probably benign	Het
Pcdh20	G	C	14: 88,467,026	P946R	probably damaging	Het
Pde6b	T	C	5: 108,423,585		probably null	Het
Pdzrn4	A	T	15: 92,769,881	D638V	possibly damaging	Het
Rnf157	T	A	11: 116,360,317	D127V	probably damaging	Het
Rspo4	T	A	2: 151,867,883	C69*	probably null	Het
Scara3	T	C	14: 65,936,402	T63A	probably benign	Het
Scn2a	G	A	2: 65,683,838	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,377,549	T163A	probably benign	Het
Slc2a10	T	A	2: 165,516,293	F446Y	probably damaging	Het
Snapc1	C	T	12: 73,982,495	R351C	probably damaging	Het
Snx6	A	G	12: 54,768,030	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,861,435	C1996*	probably null	Het
Steap4	A	G	5: 7,980,337	T398A	probably benign	Het
Tep1	A	T	14: 50,866,053	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,464	V70D	possibly damaging	Het
Ttn	G	A	2: 76,739,018	A27177V	probably damaging	Het
Ube3a	T	C	7: 59,276,122	V237A	possibly damaging	Het
Vil1	G	A	1: 74,421,383	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,393,929	T716A	probably benign	Het
Zbp1	A	G	2: 173,216,990	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524	V1845A	probably benign	Het
Zfp407	A	T	18: 84,561,268	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,925,815	T626A	probably benign	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
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
R7033:Polr1b	UTSW	2	129115642	missense	possibly damaging	0.82
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'- GGCATTAAGGTTATGAGAGGCTC -3'
(R):5'- ACATACTTAAGCAGGAACTCGG -3'

Sequencing Primer
(F):5'- TTATGAGAGGCTCAGTGCAGC -3'
(R):5'- TAAGCAGGAACTCGGCAGCTTC -3'

Posted On

2019-06-07