Mutagenetix > Incidental Mutation

Incidental Mutation 'R7209:Polr2b'

560932

Institutional Source

Beutler Lab

Gene Symbol

Polr2b

Ensembl Gene

ENSMUSG00000029250

Gene Name

polymerase (RNA) II (DNA directed) polypeptide B

Synonyms

RPB2

MMRRC Submission

045338-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R7209 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77458331-77497175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77491026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 956 (F956I)

Ref Sequence

ENSEMBL: ENSMUSP00000031167 (fasta)

Gene Model

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

AlphaFold

Q8CFI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031167
AA Change: F956I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250
AA Change: F956I

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: 99.7%
20x: 98.8%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	A	G	14: 68,767,268 (GRCm39)	Y61H	probably damaging	Het
Adgrb1	T	G	15: 74,441,797 (GRCm39)	V966G	possibly damaging	Het
Adh5	G	A	3: 138,148,909 (GRCm39)		probably benign	Het
Akr1b8	T	C	6: 34,333,207 (GRCm39)	V28A	probably damaging	Het
Apbb1	T	A	7: 105,215,292 (GRCm39)	I450F	probably damaging	Het
Arhgap23	C	T	11: 97,366,911 (GRCm39)	T1064I	probably damaging	Het
Arhgap23	G	C	11: 97,383,273 (GRCm39)		probably null	Het
Atg4b	A	G	1: 93,702,955 (GRCm39)	I128M	probably damaging	Het
Baat	A	T	4: 49,503,065 (GRCm39)	I19N	probably damaging	Het
Bspry	T	G	4: 62,404,852 (GRCm39)	I216S	possibly damaging	Het
Commd9	T	A	2: 101,725,483 (GRCm39)	S19T	possibly damaging	Het
Cr2	A	G	1: 194,851,032 (GRCm39)	C145R	probably damaging	Het
Cyp2c68	A	G	19: 39,677,649 (GRCm39)	L447P	probably damaging	Het
Depdc1b	T	C	13: 108,519,389 (GRCm39)	M333T	possibly damaging	Het
Dhx9	T	C	1: 153,340,369 (GRCm39)	T710A	possibly damaging	Het
Dnah5	T	C	15: 28,459,371 (GRCm39)	V4530A	possibly damaging	Het
Dohh	T	A	10: 81,221,874 (GRCm39)	H89Q	probably damaging	Het
Dop1b	T	A	16: 93,566,733 (GRCm39)	N1171K	probably benign	Het
Dscam	T	C	16: 96,451,544 (GRCm39)		probably null	Het
Entpd5	T	A	12: 84,443,702 (GRCm39)	S14C	probably benign	Het
Eqtn	G	A	4: 94,813,806 (GRCm39)	S125F	probably damaging	Het
Erp44	A	T	4: 48,211,704 (GRCm39)	D197E	probably benign	Het
Fgf18	A	T	11: 33,084,315 (GRCm39)	D46E	probably benign	Het
Foxa1	T	A	12: 57,590,077 (GRCm39)	M48L	probably benign	Het
Gabrg1	C	A	5: 70,911,513 (GRCm39)	C417F	probably damaging	Het
Glrp1	T	A	1: 88,431,004 (GRCm39)	Q122L	unknown	Het
Gm5622	A	G	14: 51,893,363 (GRCm39)	I97V	possibly damaging	Het
Gusb	A	G	5: 130,027,387 (GRCm39)	V306A	probably benign	Het
Hars1	A	G	18: 36,906,593 (GRCm39)	S126P	probably benign	Het
Herc1	A	G	9: 66,292,314 (GRCm39)	S356G	possibly damaging	Het
Hydin	C	A	8: 111,216,424 (GRCm39)	Y1336*	probably null	Het
Iftap	T	C	2: 101,396,727 (GRCm39)	*217W	probably null	Het
Kin	T	C	2: 10,096,564 (GRCm39)	Y138H	possibly damaging	Het
Lypd2	C	T	15: 74,604,266 (GRCm39)	V101M	probably benign	Het
Madcam1	A	T	10: 79,500,892 (GRCm39)	T70S	possibly damaging	Het
Man1a2	A	G	3: 100,554,395 (GRCm39)	C112R	unknown	Het
Mia2	T	A	12: 59,201,176 (GRCm39)	V198E	possibly damaging	Het
Mpdz	C	T	4: 81,225,114 (GRCm39)	V1438M	possibly damaging	Het
Mtif2	G	A	11: 29,479,996 (GRCm39)	V21M	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nln	G	A	13: 104,209,406 (GRCm39)	Q56*	probably null	Het
Nlrp4b	T	C	7: 10,444,297 (GRCm39)	V82A	probably benign	Het
Obscn	C	A	11: 58,975,933 (GRCm39)	E2065*	probably null	Het
Or10g1	A	G	14: 52,647,550 (GRCm39)	C260R	possibly damaging	Het
Pilrb2	C	T	5: 137,869,126 (GRCm39)		probably null	Het
Plekhh1	C	A	12: 79,097,150 (GRCm39)	D99E	probably benign	Het
Ppp3cc	A	G	14: 70,504,947 (GRCm39)	F20L	probably benign	Het
Prmt9	T	C	8: 78,291,627 (GRCm39)	V333A	probably benign	Het
Psd4	T	C	2: 24,287,357 (GRCm39)	S430P	probably damaging	Het
Relch	C	A	1: 105,678,082 (GRCm39)	P1136T	probably damaging	Het
Rrp12	A	C	19: 41,861,388 (GRCm39)	V973G	possibly damaging	Het
Rxfp2	A	G	5: 149,976,563 (GRCm39)		probably null	Het
S100a6	G	A	3: 90,521,095 (GRCm39)	A8T	possibly damaging	Het
Sgsm2	C	A	11: 74,745,151 (GRCm39)	G717V	probably damaging	Het
Sipa1	A	G	19: 5,705,003 (GRCm39)	Y531H	probably damaging	Het
Slc45a1	A	C	4: 150,719,669 (GRCm39)		probably null	Het
Spopfm3	A	T	3: 94,106,012 (GRCm39)	Q110L	probably benign	Het
Srbd1	C	A	17: 86,308,948 (GRCm39)	L743F	probably damaging	Het
Taar2	A	T	10: 23,816,597 (GRCm39)	I46F	possibly damaging	Het
Tmem241	A	T	18: 12,237,229 (GRCm39)	V69D	probably damaging	Het
Tns1	T	C	1: 73,993,074 (GRCm39)	S535G	possibly damaging	Het
Trgc3	A	G	13: 19,445,334 (GRCm39)	N94S	probably benign	Het
Ttc34	C	A	4: 154,923,585 (GRCm39)	P98Q	probably damaging	Het
Ubr1	C	A	2: 120,693,246 (GRCm39)	R1720L	probably benign	Het
Ubr3	T	A	2: 69,846,478 (GRCm39)	D1597E	probably benign	Het
Unc79	T	C	12: 103,091,883 (GRCm39)	M1930T	probably benign	Het
Vmn2r100	A	T	17: 19,751,576 (GRCm39)	I603F	not run	Het
Vps26b	A	T	9: 26,921,288 (GRCm39)	S304T	probably benign	Het
Zfp952	A	T	17: 33,222,444 (GRCm39)	T308S	possibly 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
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'- AGAGGTAGGTGTCTCCAGTCTTTC -3'
(R):5'- GGCTCAATGATCAGAGAAATGGTC -3'

Sequencing Primer
(F):5'- TGCCTAACCCAGAGTTGTATTG -3'
(R):5'- TCAGAGAAATGGTCACCAAAATG -3'

Posted On

2019-06-26