Mutagenetix > Incidental Mutation

Incidental Mutation 'R9275:Polr2b'

703213

Institutional Source

Beutler Lab

Gene Symbol

Polr2b

Ensembl Gene

ENSMUSG00000029250

Gene Name

polymerase (RNA) II (DNA directed) polypeptide B

Synonyms

RPB2

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R9275 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77310147-77349324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77323638 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 274 (R274G)

Ref Sequence

ENSEMBL: ENSMUSP00000031167 (fasta)

Gene Model

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

AlphaFold

Q8CFI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031167
AA Change: R274G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250
AA Change: R274G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	G	11: 76,464,282	Y249H	probably damaging	Het
AF067063	T	C	13: 119,828,457	S68G	possibly damaging	Het
Afdn	T	A	17: 13,804,008	C59S	probably damaging	Het
Akap11	C	A	14: 78,513,709	V413F		Het
Ank3	T	C	10: 69,986,832	S444P	probably damaging	Het
Ankrd12	C	T	17: 66,037,604	E91K	possibly damaging	Het
Arhgap10	A	G	8: 77,411,036	S309P	probably damaging	Het
Arpc2	C	A	1: 74,236,882	F19L	probably benign	Het
Atp5a1	C	T	18: 77,781,297	T457I	probably damaging	Het
Bsn	C	T	9: 108,111,620	R2311H	probably damaging	Het
C1ra	A	G	6: 124,517,424	T277A	probably benign	Het
Celsr3	C	G	9: 108,838,490	L2124V	probably benign	Het
Cenpv	T	C	11: 62,525,163	*253W	probably null	Het
Cfap54	A	T	10: 93,039,186	V479E	possibly damaging	Het
Cmpk2	A	T	12: 26,469,569	Y73F	probably benign	Het
Cpne2	T	C	8: 94,555,015	I226T	possibly damaging	Het
Cyp2c67	C	T	19: 39,609,255	R433Q	probably damaging	Het
Dagla	A	G	19: 10,254,856	Y489H	probably damaging	Het
Dennd4a	C	A	9: 64,842,624	P166T	probably damaging	Het
Dnm2	C	T	9: 21,505,681	R837W	possibly damaging	Het
Enpp2	C	T	15: 54,850,088	R658Q	probably benign	Het
Gm10521	G	A	1: 171,896,463	V114I	unknown	Het
Gm7534	A	G	4: 134,195,459	L521P	probably damaging	Het
H2-T24	T	A	17: 36,017,384	E69V	probably damaging	Het
H6pd	T	A	4: 149,995,850	K179N	probably damaging	Het
Hsf2bp	C	T	17: 31,987,362	W265*	probably null	Het
Igfn1	C	A	1: 135,973,447	R431L	probably damaging	Het
Kcng2	T	C	18: 80,295,859	S405G	possibly damaging	Het
Leng9	T	C	7: 4,148,448	T410A	probably benign	Het
Lrp1b	T	C	2: 40,597,064	Y4557C		Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mlkl	A	G	8: 111,316,423	V364A	probably benign	Het
Mns1	T	A	9: 72,449,225	F254Y	probably benign	Het
Naip1	T	A	13: 100,426,176	N827I	probably damaging	Het
Neb	C	T	2: 52,256,178	R2929H	probably damaging	Het
Olfr1025-ps1	A	G	2: 85,918,702	Y259C	probably benign	Het
Olfr111	T	A	17: 37,530,928	M317K	probably benign	Het
Pde10a	A	G	17: 8,981,656	*797W	probably null	Het
Pirb	T	G	7: 3,716,860	H429P	probably benign	Het
Plbd1	A	G	6: 136,617,288	L321P	probably damaging	Het
Pmfbp1	A	G	8: 109,535,839	I722V	probably benign	Het
Prune2	C	T	19: 17,123,780	T2216I	probably benign	Het
Psma3	A	T	12: 70,994,382	D252V	probably benign	Het
Ptpn1	C	T	2: 167,974,256	T230I	probably damaging	Het
Rhpn1	T	C	15: 75,713,271	V519A	possibly damaging	Het
Rnf213	T	C	11: 119,435,942	V1586A		Het
Rrp36	T	A	17: 46,672,380	K103*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,923		probably benign	Het
Ryr2	T	C	13: 11,883,090	T140A	probably benign	Het
Scn1a	T	A	2: 66,299,682	Y243F	probably damaging	Het
Sdk1	A	G	5: 141,956,198	T534A	possibly damaging	Het
Slc27a5	T	C	7: 12,997,713	D117G	probably damaging	Het
Slc2a1	A	T	4: 119,133,410	E246D	probably benign	Het
Smpd2	T	C	10: 41,487,689	D289G	probably benign	Het
Spag6	A	C	2: 18,699,174	E11A	probably benign	Het
Stard3	G	A	11: 98,372,105		probably benign	Het
Tcf19	A	G	17: 35,515,002	V86A	probably damaging	Het
Tigit	A	T	16: 43,659,470	M154K	probably benign	Het
Trim34a	T	A	7: 104,260,994	N334K	probably damaging	Het
Tsen15	T	C	1: 152,383,347	I87V	probably damaging	Het
Ttn	A	T	2: 76,907,874	M4153K	unknown	Het
Uchl3	A	T	14: 101,668,527		probably null	Het
Usp1	A	G	4: 98,931,341	K347E	probably damaging	Het
Vmn1r73	T	C	7: 11,756,552	M99T	probably benign	Het
Vmn2r20	A	G	6: 123,385,435	W797R	probably damaging	Het
Vwa7	A	G	17: 35,019,736	T267A	probably damaging	Het

Other mutations in Polr2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02026:Polr2b	APN	5	77332252	missense	probably benign
IGL02069:Polr2b	APN	5	77343197	missense	probably benign	0.01
IGL03218:Polr2b	APN	5	77315917	missense	probably benign	0.03
R0007:Polr2b	UTSW	5	77340437	missense	probably benign	0.02
R0056:Polr2b	UTSW	5	77334535	missense	possibly damaging	0.55
R0076:Polr2b	UTSW	5	77326561	missense	possibly damaging	0.78
R0099:Polr2b	UTSW	5	77320950	splice site	probably benign
R0114:Polr2b	UTSW	5	77343263	missense	probably damaging	1.00
R0193:Polr2b	UTSW	5	77320076	missense	probably damaging	1.00
R0481:Polr2b	UTSW	5	77332082	missense	possibly damaging	0.90
R0607:Polr2b	UTSW	5	77313159	unclassified	probably benign
R1233:Polr2b	UTSW	5	77334565	missense	probably benign
R1597:Polr2b	UTSW	5	77326101	missense	probably damaging	1.00
R1674:Polr2b	UTSW	5	77326623	missense	possibly damaging	0.83
R1696:Polr2b	UTSW	5	77342648	missense	probably benign	0.12
R1704:Polr2b	UTSW	5	77342560	missense	possibly damaging	0.95
R1871:Polr2b	UTSW	5	77326527	splice site	probably benign
R2114:Polr2b	UTSW	5	77320970	missense	probably damaging	1.00
R2137:Polr2b	UTSW	5	77320346	missense	probably benign	0.18
R2305:Polr2b	UTSW	5	77320437	splice site	probably benign
R3921:Polr2b	UTSW	5	77326653	missense	probably damaging	1.00
R4027:Polr2b	UTSW	5	77348405	missense	possibly damaging	0.88
R4031:Polr2b	UTSW	5	77348405	missense	possibly damaging	0.88
R4526:Polr2b	UTSW	5	77326714	missense	probably damaging	1.00
R4750:Polr2b	UTSW	5	77332039	missense	possibly damaging	0.92
R4827:Polr2b	UTSW	5	77342551	missense	probably benign
R5244:Polr2b	UTSW	5	77343000	intron	probably benign
R5360:Polr2b	UTSW	5	77349146	missense	possibly damaging	0.90
R5628:Polr2b	UTSW	5	77313216	missense	probably damaging	0.98
R5928:Polr2b	UTSW	5	77345342	missense	probably damaging	1.00
R6009:Polr2b	UTSW	5	77320252	missense	probably benign
R6179:Polr2b	UTSW	5	77320977	missense	probably damaging	1.00
R6251:Polr2b	UTSW	5	77348294	missense	probably benign	0.00
R7209:Polr2b	UTSW	5	77343179	missense	probably damaging	1.00
R7303:Polr2b	UTSW	5	77321021	missense	probably benign	0.04
R7328:Polr2b	UTSW	5	77315999	missense	probably damaging	1.00
R7345:Polr2b	UTSW	5	77349119	missense	possibly damaging	0.55
R7471:Polr2b	UTSW	5	77321066	nonsense	probably null
R7581:Polr2b	UTSW	5	77326704	missense	probably damaging	1.00
R7697:Polr2b	UTSW	5	77320212	missense	probably damaging	1.00
R7699:Polr2b	UTSW	5	77340421	missense	probably benign	0.00
R7700:Polr2b	UTSW	5	77340421	missense	probably benign	0.00
R7956:Polr2b	UTSW	5	77320245	missense	probably benign	0.35
R7995:Polr2b	UTSW	5	77325767	missense	possibly damaging	0.96
R8015:Polr2b	UTSW	5	77336506	missense	probably damaging	1.00
R8247:Polr2b	UTSW	5	77320215	missense	possibly damaging	0.94
R8318:Polr2b	UTSW	5	77335729	missense	probably benign	0.00
R8686:Polr2b	UTSW	5	77335663	missense	probably damaging	1.00
R8850:Polr2b	UTSW	5	77315914	missense	probably benign	0.00
R9253:Polr2b	UTSW	5	77345377	missense	probably benign	0.16
R9278:Polr2b	UTSW	5	77323638	missense	probably damaging	1.00
X0054:Polr2b	UTSW	5	77348305	missense	probably damaging	0.97
Z1088:Polr2b	UTSW	5	77342722	missense	possibly damaging	0.95
Z1088:Polr2b	UTSW	5	77345401	missense	probably damaging	1.00
Z1176:Polr2b	UTSW	5	77331971	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGTATACTAAGTTGGCCATCTGG -3'
(R):5'- CTTTCACTACACCGTAAATGCC -3'

Sequencing Primer
(F):5'- AAGTTGGCCATCTGGTACAC -3'
(R):5'- TTTCACTACACCGTAAATGCCACAAG -3'

Posted On

2022-03-25