Mutagenetix > Incidental Mutation

Incidental Mutation 'R1597:Polr2b'

175862

Institutional Source

Beutler Lab

Gene Symbol

Polr2b

Ensembl Gene

ENSMUSG00000029250

Gene Name

polymerase (RNA) II (DNA directed) polypeptide B

Synonyms

RPB2

MMRRC Submission

039634-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R1597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77458331-77497175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77473948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 384 (D384G)

Ref Sequence

ENSEMBL: ENSMUSP00000031167 (fasta)

Gene Model

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

AlphaFold

Q8CFI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031167
AA Change: D384G

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

SMART Domains

Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250
AA Change: D384G

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: ENSMUST00000132134

Meta Mutation Damage Score

0.9745

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.1%

Validation Efficiency

100% (77/77)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	A	T	19: 34,229,983 (GRCm39)		probably benign	Het
Afap1l2	T	C	19: 56,902,881 (GRCm39)	N748S	probably benign	Het
Aox1	T	A	1: 58,086,326 (GRCm39)	I77N	probably damaging	Het
Ap1s1	A	T	5: 137,072,095 (GRCm39)	M20K	probably damaging	Het
Atad3a	A	T	4: 155,835,892 (GRCm39)		probably null	Het
Atp1b1	G	T	1: 164,265,889 (GRCm39)	R291S	probably damaging	Het
Birc7	T	C	2: 180,570,974 (GRCm39)	V12A	possibly damaging	Het
Btnl2	T	C	17: 34,582,211 (GRCm39)	V259A	probably damaging	Het
Cdh11	A	T	8: 103,377,343 (GRCm39)	N434K	probably benign	Het
Cel	G	T	2: 28,450,479 (GRCm39)		probably benign	Het
Col10a1	A	G	10: 34,271,074 (GRCm39)	K349E	probably damaging	Het
Ddhd2	A	G	8: 26,239,768 (GRCm39)	V315A	probably benign	Het
Dnah17	C	A	11: 117,994,324 (GRCm39)		probably benign	Het
Dock2	T	C	11: 34,595,474 (GRCm39)	T441A	probably benign	Het
Ermap	A	T	4: 119,041,152 (GRCm39)	I286N	probably damaging	Het
Fbxl17	T	C	17: 63,794,813 (GRCm39)	K423R	probably damaging	Het
Frem2	T	C	3: 53,561,940 (GRCm39)	T856A	probably benign	Het
Gas6	T	C	8: 13,543,901 (GRCm39)	E64G	probably damaging	Het
Gzma	T	A	13: 113,232,331 (GRCm39)	N190I	probably damaging	Het
Ifngr1	C	T	10: 19,485,090 (GRCm39)	T363M	probably damaging	Het
Itga7	A	G	10: 128,782,732 (GRCm39)	T690A	probably benign	Het
Kif15	A	G	9: 122,823,074 (GRCm39)	E485G	probably benign	Het
Kif18a	A	G	2: 109,123,336 (GRCm39)	I203M	probably damaging	Het
Klhl1	A	T	14: 96,438,647 (GRCm39)		probably null	Het
Lrch3	C	T	16: 32,770,781 (GRCm39)	Q128*	probably null	Het
Lrriq4	C	G	3: 30,705,037 (GRCm39)	P355R	probably damaging	Het
Mcm10	A	T	2: 5,003,563 (GRCm39)	H551Q	probably damaging	Het
Mcm3ap	T	C	10: 76,319,060 (GRCm39)	F763L	probably damaging	Het
Mdc1	T	A	17: 36,156,758 (GRCm39)	V55E	probably damaging	Het
Me2	A	T	18: 73,931,016 (GRCm39)	N92K	probably damaging	Het
Mtss1	A	G	15: 58,815,560 (GRCm39)	S667P	probably damaging	Het
Mup5	A	T	4: 61,753,317 (GRCm39)	Y15N	possibly damaging	Het
Mx1	T	A	16: 97,256,329 (GRCm39)	M197L	probably damaging	Het
N4bp2	C	T	5: 65,964,483 (GRCm39)	T844I	probably benign	Het
Nlrc3	T	A	16: 3,781,859 (GRCm39)	R517W	probably damaging	Het
Nos3	A	T	5: 24,573,995 (GRCm39)	I227F	probably damaging	Het
Or52a5	A	G	7: 103,427,267 (GRCm39)	F95S	probably benign	Het
Pabpc2	A	G	18: 39,906,953 (GRCm39)	N73D	probably damaging	Het
Pcdhb18	A	G	18: 37,624,820 (GRCm39)	R717G	probably benign	Het
Pcsk5	T	A	19: 17,413,964 (GRCm39)	M1702L	probably benign	Het
Plxna2	A	C	1: 194,431,614 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,630,755 (GRCm39)	M1221T	possibly damaging	Het
Ppl	T	A	16: 4,925,438 (GRCm39)	H67L	probably benign	Het
Psmd5	A	G	2: 34,757,035 (GRCm39)	L63S	probably damaging	Het
Psme1	A	G	14: 55,818,222 (GRCm39)	T150A	probably damaging	Het
Rapgef5	C	T	12: 117,621,940 (GRCm39)	R33C	probably damaging	Het
Rela	G	A	19: 5,695,359 (GRCm39)	R295H	probably damaging	Het
Rpe65	T	A	3: 159,320,421 (GRCm39)	V326E	probably damaging	Het
Scn5a	C	A	9: 119,391,563 (GRCm39)	R43L	probably damaging	Het
Skida1	T	C	2: 18,051,143 (GRCm39)		probably benign	Het
Slc4a4	G	A	5: 89,283,587 (GRCm39)	A469T	probably benign	Het
Spaca7	G	T	8: 12,630,991 (GRCm39)	E48*	probably null	Het
Syn3	G	T	10: 85,970,908 (GRCm39)	T238K	probably benign	Het
Taok1	A	G	11: 77,470,626 (GRCm39)	S60P	probably benign	Het
Tecpr1	A	G	5: 144,151,128 (GRCm39)	I256T	probably benign	Het
Tenm4	T	A	7: 96,552,196 (GRCm39)		probably null	Het
Tex15	A	G	8: 34,061,511 (GRCm39)	T588A	probably damaging	Het
Tgfbi	T	A	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem62	G	A	2: 120,814,843 (GRCm39)	A169T	probably benign	Het
Tnc	A	G	4: 63,924,621 (GRCm39)	S1026P	probably benign	Het
Tnik	T	C	3: 28,658,418 (GRCm39)	S568P	probably damaging	Het
Trpm6	A	T	19: 18,804,888 (GRCm39)	I947F	probably damaging	Het
Ttc27	T	A	17: 75,170,402 (GRCm39)	L832Q	possibly damaging	Het
U2surp	C	T	9: 95,363,793 (GRCm39)		probably benign	Het
Ube4a	A	T	9: 44,841,064 (GRCm39)	D1009E	possibly damaging	Het
Unc13d	T	C	11: 115,965,262 (GRCm39)	E192G	probably benign	Het
Vmn2r71	T	C	7: 85,273,352 (GRCm39)	V722A	possibly damaging	Het
Zfp386	T	C	12: 116,023,709 (GRCm39)	S476P	probably damaging	Het
Zfp644	A	T	5: 106,786,199 (GRCm39)	V116D	probably damaging	Het
Zfyve16	T	A	13: 92,644,755 (GRCm39)	N1149I	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
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
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'- GGCAAAGCCTGGTGTTACTAAGGAG -3'
(R):5'- CCTGCCGTGAAACCATAAGGACAAG -3'

Sequencing Primer
(F):5'- AGAAATGCTCCCTCACGTTGG -3'
(R):5'- CCATAAGGACAAGAGCCTGTG -3'

Posted On

2014-04-24