Mutagenetix > Incidental Mutation

Incidental Mutation 'R2305:Polr2b'

244552

Institutional Source

Beutler Lab

Gene Symbol

Polr2b

Ensembl Gene

ENSMUSG00000029250

Gene Name

polymerase (RNA) II (DNA directed) polypeptide B

Synonyms

RPB2

MMRRC Submission

040304-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R2305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77458331-77497175 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 77468284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031167]

AlphaFold

Q8CFI7

Predicted Effect

probably benign
Transcript: ENSMUST00000031167

SMART Domains

Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
Pfam:RNA_pol_Rpb2_1	38	442	2.5e-69	PFAM
Pfam:RNA_pol_Rpb2_2	201	394	3.7e-57	PFAM
Pfam:RNA_pol_Rpb2_3	468	532	6.1e-25	PFAM
Pfam:RNA_pol_Rpb2_4	567	629	7.4e-27	PFAM
Pfam:RNA_pol_Rpb2_5	653	700	1.6e-22	PFAM
Pfam:RNA_pol_Rpb2_6	707	1080	4.5e-129	PFAM
Pfam:RNA_pol_Rpb2_7	1082	1174	3.3e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202146

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (32/32)

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 II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	C	A	2: 58,171,711 (GRCm39)	D295Y	probably damaging	Het
Adamts7	A	G	9: 90,062,764 (GRCm39)	D406G	probably benign	Het
Ankhd1	T	C	18: 36,775,979 (GRCm39)	S1443P	possibly damaging	Het
Casp8ap2	A	T	4: 32,646,411 (GRCm39)	K1828I	probably damaging	Het
Cep135	T	C	5: 76,743,236 (GRCm39)		probably benign	Het
Cyp3a57	A	G	5: 145,318,090 (GRCm39)	D357G	probably damaging	Het
Defb21	T	A	2: 152,416,791 (GRCm39)	L89Q	possibly damaging	Het
Dnah5	A	T	15: 28,387,913 (GRCm39)	E3124V	probably benign	Het
Efcab7	A	G	4: 99,719,718 (GRCm39)	T67A	possibly damaging	Het
Exo1	C	T	1: 175,716,327 (GRCm39)	P148L	probably damaging	Het
Hps4	A	G	5: 112,494,527 (GRCm39)	I37V	probably damaging	Het
Krt9	T	A	11: 100,083,942 (GRCm39)	M30L	unknown	Het
Med25	C	A	7: 44,535,314 (GRCm39)	R37L	possibly damaging	Het
Or10ak12	T	G	4: 118,666,058 (GRCm39)	Q318H	probably benign	Het
Or5an10	T	C	19: 12,276,451 (GRCm39)	E15G	probably benign	Het
Phf3	G	A	1: 30,844,556 (GRCm39)	Q1468*	probably null	Het
Phkb	A	G	8: 86,770,431 (GRCm39)	K900R	possibly damaging	Het
Pirb	G	A	7: 3,715,990 (GRCm39)	H755Y	probably benign	Het
Polq	A	T	16: 36,882,699 (GRCm39)	N1342I	probably damaging	Het
Pus1	C	A	5: 110,922,826 (GRCm39)	M232I	probably benign	Het
Serpina3a	C	A	12: 104,082,787 (GRCm39)	Q187K	probably benign	Het
Slit1	G	A	19: 41,599,455 (GRCm39)	P1032L	probably benign	Het
Syne1	C	T	10: 4,997,573 (GRCm39)	E465K	probably damaging	Het
Tektl1	T	C	10: 78,584,336 (GRCm39)	T360A	probably damaging	Het
Tlk2	T	G	11: 105,132,417 (GRCm39)	I217R	possibly damaging	Het
Tlr4	A	G	4: 66,758,338 (GRCm39)	D377G	probably damaging	Het
Tmtc1	T	C	6: 148,146,195 (GRCm39)	D866G	probably damaging	Het
Tubd1	T	A	11: 86,446,017 (GRCm39)	I219N	probably benign	Het
Ugt3a1	C	A	15: 9,351,203 (GRCm39)	P71T	probably benign	Het
Vmn1r64	A	G	7: 5,887,535 (GRCm39)	S3P	probably benign	Het

Other mutations in Polr2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02026:Polr2b	APN	5	77,480,099 (GRCm39)	missense	probably benign
IGL02069:Polr2b	APN	5	77,491,044 (GRCm39)	missense	probably benign	0.01
IGL03218:Polr2b	APN	5	77,463,764 (GRCm39)	missense	probably benign	0.03
R0007:Polr2b	UTSW	5	77,488,284 (GRCm39)	missense	probably benign	0.02
R0056:Polr2b	UTSW	5	77,482,382 (GRCm39)	missense	possibly damaging	0.55
R0076:Polr2b	UTSW	5	77,474,408 (GRCm39)	missense	possibly damaging	0.78
R0099:Polr2b	UTSW	5	77,468,797 (GRCm39)	splice site	probably benign
R0114:Polr2b	UTSW	5	77,491,110 (GRCm39)	missense	probably damaging	1.00
R0193:Polr2b	UTSW	5	77,467,923 (GRCm39)	missense	probably damaging	1.00
R0481:Polr2b	UTSW	5	77,479,929 (GRCm39)	missense	possibly damaging	0.90
R0607:Polr2b	UTSW	5	77,461,006 (GRCm39)	unclassified	probably benign
R1233:Polr2b	UTSW	5	77,482,412 (GRCm39)	missense	probably benign
R1597:Polr2b	UTSW	5	77,473,948 (GRCm39)	missense	probably damaging	1.00
R1674:Polr2b	UTSW	5	77,474,470 (GRCm39)	missense	possibly damaging	0.83
R1696:Polr2b	UTSW	5	77,490,495 (GRCm39)	missense	probably benign	0.12
R1704:Polr2b	UTSW	5	77,490,407 (GRCm39)	missense	possibly damaging	0.95
R1871:Polr2b	UTSW	5	77,474,374 (GRCm39)	splice site	probably benign
R2114:Polr2b	UTSW	5	77,468,817 (GRCm39)	missense	probably damaging	1.00
R2137:Polr2b	UTSW	5	77,468,193 (GRCm39)	missense	probably benign	0.18
R3921:Polr2b	UTSW	5	77,474,500 (GRCm39)	missense	probably damaging	1.00
R4027:Polr2b	UTSW	5	77,496,252 (GRCm39)	missense	possibly damaging	0.88
R4031:Polr2b	UTSW	5	77,496,252 (GRCm39)	missense	possibly damaging	0.88
R4526:Polr2b	UTSW	5	77,474,561 (GRCm39)	missense	probably damaging	1.00
R4750:Polr2b	UTSW	5	77,479,886 (GRCm39)	missense	possibly damaging	0.92
R4827:Polr2b	UTSW	5	77,490,398 (GRCm39)	missense	probably benign
R5244:Polr2b	UTSW	5	77,490,847 (GRCm39)	intron	probably benign
R5360:Polr2b	UTSW	5	77,496,993 (GRCm39)	missense	possibly damaging	0.90
R5628:Polr2b	UTSW	5	77,461,063 (GRCm39)	missense	probably damaging	0.98
R5928:Polr2b	UTSW	5	77,493,189 (GRCm39)	missense	probably damaging	1.00
R6009:Polr2b	UTSW	5	77,468,099 (GRCm39)	missense	probably benign
R6179:Polr2b	UTSW	5	77,468,824 (GRCm39)	missense	probably damaging	1.00
R6251:Polr2b	UTSW	5	77,496,141 (GRCm39)	missense	probably benign	0.00
R7209:Polr2b	UTSW	5	77,491,026 (GRCm39)	missense	probably damaging	1.00
R7303:Polr2b	UTSW	5	77,468,868 (GRCm39)	missense	probably benign	0.04
R7328:Polr2b	UTSW	5	77,463,846 (GRCm39)	missense	probably damaging	1.00
R7345:Polr2b	UTSW	5	77,496,966 (GRCm39)	missense	possibly damaging	0.55
R7471:Polr2b	UTSW	5	77,468,913 (GRCm39)	nonsense	probably null
R7581:Polr2b	UTSW	5	77,474,551 (GRCm39)	missense	probably damaging	1.00
R7697:Polr2b	UTSW	5	77,468,059 (GRCm39)	missense	probably damaging	1.00
R7699:Polr2b	UTSW	5	77,488,268 (GRCm39)	missense	probably benign	0.00
R7700:Polr2b	UTSW	5	77,488,268 (GRCm39)	missense	probably benign	0.00
R7956:Polr2b	UTSW	5	77,468,092 (GRCm39)	missense	probably benign	0.35
R7995:Polr2b	UTSW	5	77,473,614 (GRCm39)	missense	possibly damaging	0.96
R8015:Polr2b	UTSW	5	77,484,353 (GRCm39)	missense	probably damaging	1.00
R8247:Polr2b	UTSW	5	77,468,062 (GRCm39)	missense	possibly damaging	0.94
R8318:Polr2b	UTSW	5	77,483,576 (GRCm39)	missense	probably benign	0.00
R8686:Polr2b	UTSW	5	77,483,510 (GRCm39)	missense	probably damaging	1.00
R8850:Polr2b	UTSW	5	77,463,761 (GRCm39)	missense	probably benign	0.00
R9253:Polr2b	UTSW	5	77,493,224 (GRCm39)	missense	probably benign	0.16
R9275:Polr2b	UTSW	5	77,471,485 (GRCm39)	missense	probably damaging	1.00
R9278:Polr2b	UTSW	5	77,471,485 (GRCm39)	missense	probably damaging	1.00
X0054:Polr2b	UTSW	5	77,496,152 (GRCm39)	missense	probably damaging	0.97
Z1088:Polr2b	UTSW	5	77,493,248 (GRCm39)	missense	probably damaging	1.00
Z1088:Polr2b	UTSW	5	77,490,569 (GRCm39)	missense	possibly damaging	0.95
Z1176:Polr2b	UTSW	5	77,479,818 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAGAACAGCTGCAGACTCAG -3'
(R):5'- AACCGCTGGCAAATTTCTAATG -3'

Sequencing Primer
(F):5'- GCACCAGAAAACGTTCATAGG -3'
(R):5'- CATCAAGCACCCTGGAAGTGG -3'

Posted On

2014-10-30