Mutagenetix > Incidental Mutation

Incidental Mutation 'R5928:Polr2b'

460000

Institutional Source

Beutler Lab

Gene Symbol

Polr2b

Ensembl Gene

ENSMUSG00000029250

Gene Name

polymerase (RNA) II (DNA directed) polypeptide B

Synonyms

RPB2

MMRRC Submission

044123-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R5928 (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 77493189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1057 (D1057G)

Ref Sequence

ENSEMBL: ENSMUSP00000031167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031167] [ENSMUST00000046746] [ENSMUST00000163898]

AlphaFold

Q8CFI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031167
AA Change: D1057G

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

SMART Domains

Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250
AA Change: D1057G

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

probably benign
Transcript: ENSMUST00000046746

SMART Domains

Protein: ENSMUSP00000045057
Gene: ENSMUSG00000036256

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IB	30	113	9.23e-19	SMART
KAZAL	110	156	6.39e-12	SMART
IG	166	266	5.53e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150191

Predicted Effect

probably benign
Transcript: ENSMUST00000163898

SMART Domains

Protein: ENSMUSP00000128318
Gene: ENSMUSG00000036256

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IB	30	113	9.23e-19	SMART
KAZAL	110	156	6.39e-12	SMART
IG	197	297	5.53e-6	SMART

Meta Mutation Damage Score

0.9624

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (90/93)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,537,159 (GRCm39)	I475L	probably benign	Het
Abcc2	C	T	19: 43,807,797 (GRCm39)	R813W	probably damaging	Het
Adam34	T	C	8: 44,105,067 (GRCm39)	T193A	probably benign	Het
Adgb	T	C	10: 10,254,531 (GRCm39)	D1118G	probably damaging	Het
Adprh	A	C	16: 38,267,746 (GRCm39)	S180A	probably benign	Het
Atad5	A	T	11: 79,985,003 (GRCm39)	D30V	probably damaging	Het
Best3	G	A	10: 116,843,532 (GRCm39)	D303N	probably damaging	Het
Bmp2k	G	C	5: 97,235,595 (GRCm39)		probably benign	Het
Btc	A	T	5: 91,514,004 (GRCm39)	V86E	probably damaging	Het
Cacna2d4	G	T	6: 119,258,659 (GRCm39)	A582S	probably benign	Het
Carm1	A	G	9: 21,486,598 (GRCm39)		probably benign	Het
Catsperg1	A	T	7: 28,906,040 (GRCm39)	S180T	probably damaging	Het
Ccdc185	A	T	1: 182,575,047 (GRCm39)	H547Q	probably benign	Het
Ccl6	A	G	11: 83,479,658 (GRCm39)	I115T	possibly damaging	Het
Cd44	C	T	2: 102,654,648 (GRCm39)	V470M	probably damaging	Het
Cdc25a	T	C	9: 109,718,861 (GRCm39)	V354A	probably damaging	Het
Cdhr2	C	A	13: 54,881,832 (GRCm39)	Q1122K	probably benign	Het
Cep290	A	G	10: 100,387,692 (GRCm39)	K1958E	probably damaging	Het
Cfap53	C	T	18: 74,492,811 (GRCm39)	P512S	possibly damaging	Het
Chrdl2	A	T	7: 99,659,200 (GRCm39)		probably benign	Het
Cibar1	A	G	4: 12,171,919 (GRCm39)		probably benign	Het
Clec7a	A	T	6: 129,442,430 (GRCm39)	F199Y	probably damaging	Het
Cracd	A	C	5: 76,989,581 (GRCm39)		probably benign	Het
Dhx29	A	G	13: 113,101,002 (GRCm39)	K1182E	probably benign	Het
Dnah11	G	T	12: 117,878,371 (GRCm39)		probably null	Het
Dnmt3a	A	G	12: 3,916,096 (GRCm39)	S94G	possibly damaging	Het
Ecpas	A	T	4: 58,849,948 (GRCm39)	M425K	possibly damaging	Het
Egfem1	T	C	3: 29,637,077 (GRCm39)	V42A	possibly damaging	Het
Eif3e	T	A	15: 43,138,728 (GRCm39)		probably null	Het
Exosc9	T	A	3: 36,609,774 (GRCm39)		probably benign	Het
Fbxw18	T	A	9: 109,529,149 (GRCm39)	T135S	probably damaging	Het
Fbxw21	T	C	9: 108,972,893 (GRCm39)	E347G	possibly damaging	Het
Gcm2	A	G	13: 41,256,874 (GRCm39)	Y292H	probably benign	Het
Gltpd2	C	A	11: 70,410,179 (GRCm39)	Q46K	probably benign	Het
Gm6741	A	G	17: 91,544,528 (GRCm39)	Y97C	probably damaging	Het
Golgb1	T	C	16: 36,732,349 (GRCm39)	L532S	probably damaging	Het
Hdac3	C	T	18: 38,074,394 (GRCm39)		probably benign	Het
Helz2	A	T	2: 180,872,177 (GRCm39)	F2554L	possibly damaging	Het
Hmbox1	T	A	14: 65,061,122 (GRCm39)	H384L	possibly damaging	Het
Hmcn1	G	T	1: 150,474,648 (GRCm39)	D4746E	possibly damaging	Het
Il17rb	C	A	14: 29,726,232 (GRCm39)		probably null	Het
Irak2	A	T	6: 113,653,587 (GRCm39)	I252F	probably damaging	Het
Khnyn	C	T	14: 56,123,344 (GRCm39)	R33C	probably damaging	Het
Ksr1	G	A	11: 78,950,545 (GRCm39)	P20L	probably damaging	Het
Lamc3	T	C	2: 31,811,721 (GRCm39)	Y903H	probably benign	Het
Miga2	T	C	2: 30,258,875 (GRCm39)		probably benign	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Ncoa4	T	C	14: 31,888,678 (GRCm39)		probably null	Het
Nphp3	T	C	9: 103,912,996 (GRCm39)	Y925H	probably benign	Het
Nr2c1	T	G	10: 94,024,055 (GRCm39)	L420R	probably damaging	Het
Onecut1	A	G	9: 74,770,066 (GRCm39)	N163S	probably benign	Het
Or5ac21	G	A	16: 59,123,521 (GRCm39)	E2K	probably damaging	Het
Or5d47	T	A	2: 87,804,380 (GRCm39)	S210C	probably benign	Het
Or7e166	A	T	9: 19,625,049 (GRCm39)	T309S	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Per2	C	T	1: 91,372,373 (GRCm39)	V234I	probably damaging	Het
Pign	A	G	1: 105,485,792 (GRCm39)	V735A	possibly damaging	Het
Plekha7	T	C	7: 115,727,809 (GRCm39)	K85R	probably benign	Het
Pnma2	C	T	14: 67,154,323 (GRCm39)	T249I	probably benign	Het
Polrmt	A	T	10: 79,576,186 (GRCm39)	L519H	probably damaging	Het
Ptar1	T	C	19: 23,695,277 (GRCm39)	I248T	probably benign	Het
Ptprh	A	C	7: 4,576,507 (GRCm39)	L251R	probably damaging	Het
Purg	T	C	8: 33,876,980 (GRCm39)	M206T	probably benign	Het
Pwp2	A	T	10: 78,018,290 (GRCm39)	F134I	probably damaging	Het
Riok3	T	A	18: 12,286,075 (GRCm39)	H434Q	probably benign	Het
Sorbs2	A	G	8: 46,216,220 (GRCm39)	I187V	probably damaging	Het
Tbc1d2b	T	C	9: 90,101,197 (GRCm39)	I598V	probably benign	Het
Tdg	T	A	10: 82,477,204 (GRCm39)	V85E	probably benign	Het
Tfb1m	C	T	17: 3,593,422 (GRCm39)	V166I	probably benign	Het
Tmem163	A	T	1: 127,419,383 (GRCm39)	M274K	probably damaging	Het
Tpr	T	C	1: 150,303,878 (GRCm39)	I1343T	probably benign	Het
Ttn	T	A	2: 76,719,794 (GRCm39)		probably benign	Het
Tut7	G	A	13: 59,969,880 (GRCm39)	A5V	probably benign	Het
Usp34	A	G	11: 23,386,040 (GRCm39)	T2156A	probably damaging	Het
Vmn1r215	A	T	13: 23,260,487 (GRCm39)	T176S	possibly damaging	Het
Vps52	C	T	17: 34,180,100 (GRCm39)	P268L	possibly damaging	Het
Xbp1	G	A	11: 5,473,514 (GRCm39)		probably benign	Het
Ythdc2	T	A	18: 44,966,272 (GRCm39)	F169L	probably benign	Het
Zfyve16	T	C	13: 92,658,625 (GRCm39)	R429G	probably benign	Het
Zzef1	A	G	11: 72,803,678 (GRCm39)	E2504G	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
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'- ATAGGAGTATGTGCATATGCGTTTC -3'
(R):5'- TTCACAGCCCTGACCTGAAAG -3'

Sequencing Primer
(F):5'- TGCATATGCGTTTCTAAACTTGG -3'
(R):5'- CAGGAACACAGGCGGTCATC -3'

Posted On

2017-02-28