Mutagenetix > Incidental Mutation

Incidental Mutation 'R9278:Polr2b'

703423

Institutional Source

Beutler Lab

Gene Symbol

Polr2b

Ensembl Gene

ENSMUSG00000029250

Gene Name

polymerase (RNA) II (DNA directed) polypeptide B

Synonyms

RPB2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R9278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77458331-77497175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77471485 bp (GRCm39)

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: 93.4%
3x: 93.4%
10x: 93.2%
20x: 92.9%

Validation Efficiency

97% (77/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Aicda	C	T	6: 122,538,854 (GRCm39)	A161V	possibly damaging	Het
Ankrd12	C	T	17: 66,344,599 (GRCm39)	E91K	possibly damaging	Het
Arpc2	C	A	1: 74,276,041 (GRCm39)	F19L	probably benign	Het
Aspa	T	C	11: 73,215,280 (GRCm39)	K12E	possibly damaging	Het
Chd8	G	A	14: 52,472,627 (GRCm39)	P392L	probably benign	Het
Cldn10	C	T	14: 119,111,647 (GRCm39)	R206W	probably damaging	Het
Clec4b2	T	A	6: 123,181,224 (GRCm39)	M203K	probably damaging	Het
Clec4d	G	T	6: 123,251,651 (GRCm39)	E178*	probably null	Het
Clec4d	T	C	6: 123,251,649 (GRCm39)	M177T	probably benign	Het
Cmpk2	A	T	12: 26,519,568 (GRCm39)	Y73F	probably benign	Het
Col1a1	T	A	11: 94,838,103 (GRCm39)	V845D	unknown	Het
Cyp2c67	C	T	19: 39,597,699 (GRCm39)	R433Q	probably damaging	Het
Dda1	A	T	8: 71,927,130 (GRCm39)		probably null	Het
Ddx60	A	T	8: 62,431,012 (GRCm39)	Y849F	possibly damaging	Het
Dnm2	C	T	9: 21,416,977 (GRCm39)	R837W	possibly damaging	Het
Dtwd1	C	T	2: 126,006,728 (GRCm39)	T250I	probably damaging	Het
Efcab6	A	G	15: 83,777,094 (GRCm39)	V1114A	probably damaging	Het
Fat4	A	G	3: 38,945,171 (GRCm39)	T1355A	probably benign	Het
Fbxo40	T	G	16: 36,789,940 (GRCm39)	D390A	possibly damaging	Het
Gnaz	T	A	10: 74,827,437 (GRCm39)	L63Q	probably benign	Het
H6pd	T	A	4: 150,080,307 (GRCm39)	K179N	probably damaging	Het
Hmgb2	A	G	8: 57,965,786 (GRCm39)		probably benign	Het
Hps5	A	G	7: 46,440,397 (GRCm39)	F18L	probably benign	Het
Hyal5	A	G	6: 24,876,694 (GRCm39)	E189G	probably benign	Het
Ifnar1	T	A	16: 91,302,013 (GRCm39)	I496N	probably damaging	Het
Ift70a2	T	C	2: 75,807,375 (GRCm39)	D379G	probably damaging	Het
Igf2r	C	A	17: 12,914,240 (GRCm39)	C1743F	probably damaging	Het
Igfn1	C	A	1: 135,901,185 (GRCm39)	R431L	probably damaging	Het
Itch	A	G	2: 155,045,217 (GRCm39)	Q507R	probably benign	Het
Kbtbd2	C	A	6: 56,757,331 (GRCm39)	R135L	probably damaging	Het
Kcnn2	T	C	18: 45,725,446 (GRCm39)	I314T	probably damaging	Het
Lix1	A	G	17: 17,623,211 (GRCm39)	D2G	probably damaging	Het
Lrp1b	T	C	2: 40,487,076 (GRCm39)	Y4557C		Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcam	G	T	9: 44,046,473 (GRCm39)		probably benign	Het
Med19	G	T	2: 84,508,975 (GRCm39)	G63C	probably damaging	Het
Mfsd4b1	C	T	10: 39,883,330 (GRCm39)	R40H	probably damaging	Het
Neb	C	T	2: 52,146,190 (GRCm39)	R2929H	probably damaging	Het
Nlrc5	A	G	8: 95,237,908 (GRCm39)	D1434G	probably benign	Het
Nlrp14	A	T	7: 106,797,049 (GRCm39)	N972I	probably damaging	Het
Or13a18	T	C	7: 140,190,936 (GRCm39)	Y278H	probably damaging	Het
Or14j7	A	T	17: 38,235,275 (GRCm39)	M273L	probably benign	Het
Or2h15	A	T	17: 38,441,693 (GRCm39)	L130Q	probably damaging	Het
Or4a74	A	C	2: 89,439,948 (GRCm39)	F166C	probably damaging	Het
Or8g29-ps1	A	G	9: 39,200,781 (GRCm39)	V135A	probably benign	Het
Otop1	T	C	5: 38,460,158 (GRCm39)	V575A	probably damaging	Het
Pcdhb4	A	G	18: 37,441,925 (GRCm39)	S412G	possibly damaging	Het
Pcsk4	T	C	10: 80,161,224 (GRCm39)	D230G	probably damaging	Het
Phldb2	C	A	16: 45,646,308 (GRCm39)	S46I	probably damaging	Het
Pik3ca	A	T	3: 32,508,587 (GRCm39)	N785I	probably damaging	Het
Prkdc	G	A	16: 15,634,523 (GRCm39)		probably null	Het
Prune2	C	T	19: 17,101,144 (GRCm39)	T2216I	probably benign	Het
Psma3	A	T	12: 71,041,156 (GRCm39)	D252V	probably benign	Het
Rnf213	T	C	11: 119,326,768 (GRCm39)	V1586A		Het
Ryr2	T	C	13: 11,897,976 (GRCm39)	T140A	probably benign	Het
Slc25a48	A	G	13: 56,611,552 (GRCm39)	I220V	probably benign	Het
Slc2a1	A	T	4: 118,990,607 (GRCm39)	E246D	probably benign	Het
Slc45a4	A	G	15: 73,458,206 (GRCm39)	Y448H	probably benign	Het
Sorl1	C	T	9: 41,957,857 (GRCm39)	V596I	probably benign	Het
Spag6	A	C	2: 18,703,985 (GRCm39)	E11A	probably benign	Het
Spef2	A	G	15: 9,727,495 (GRCm39)		probably null	Het
Spon1	T	C	7: 113,628,188 (GRCm39)	S315P	probably damaging	Het
Stard3	G	A	11: 98,262,931 (GRCm39)		probably benign	Het
Sv2c	A	G	13: 96,112,589 (GRCm39)	M636T	probably damaging	Het
Syt17	T	A	7: 118,033,480 (GRCm39)	D172V	probably damaging	Het
Tcf4	A	G	18: 69,766,652 (GRCm39)	Y206C	probably damaging	Het
Tead2	G	T	7: 44,880,776 (GRCm39)	S318I	probably benign	Het
Tom1	A	T	8: 75,783,883 (GRCm39)	D289V	probably damaging	Het
Tonsl	A	G	15: 76,520,971 (GRCm39)		probably benign	Het
Tsen15	T	C	1: 152,259,098 (GRCm39)	I87V	probably damaging	Het
Usp15	A	G	10: 123,007,112 (GRCm39)	F123S	probably damaging	Het
Vmn1r220	A	T	13: 23,368,258 (GRCm39)	I146N	possibly damaging	Het
Vmn2r108	A	T	17: 20,692,561 (GRCm39)	N98K	probably benign	Het
Vmn2r71	T	A	7: 85,269,788 (GRCm39)	M433K	probably benign	Het
Vmn2r97	A	T	17: 19,134,762 (GRCm39)	H60L	probably benign	Het
Wbp4	A	G	14: 79,699,486 (GRCm39)	V336A	probably benign	Het
Zfp663	T	C	2: 165,202,010 (GRCm39)		probably null	Het
Zpld2	A	G	4: 133,922,770 (GRCm39)	L521P	probably damaging	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
R2305:Polr2b	UTSW	5	77,468,284 (GRCm39)	splice site	probably benign
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
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'- TGTGTACCGTATACTAAGTTGGCC -3'
(R):5'- CTTTCACTACACCGTAAATGCC -3'

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

Posted On

2022-03-25