Mutagenetix > Incidental Mutation

Incidental Mutation 'R0193:Polr2b'

23212

Institutional Source

Beutler Lab

Gene Symbol

Polr2b

Ensembl Gene

ENSMUSG00000029250

Gene Name

polymerase (RNA) II (DNA directed) polypeptide B

Synonyms

RPB2

MMRRC Submission

038452-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R0193 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

77310147-77349324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77320076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 119 (T119M)

Ref Sequence

ENSEMBL: ENSMUSP00000031167 (fasta)

Gene Model

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

AlphaFold

Q8CFI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031167
AA Change: T119M

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

SMART Domains

Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250
AA Change: T119M

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: ENSMUST00000202146

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.7%
20x: 85.3%

Validation Efficiency

95% (186/196)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	T	5: 9,422,359	Q352L	probably damaging	Het
Adgrb1	T	C	15: 74,572,156	S96P	probably damaging	Het
Akr1c20	A	G	13: 4,511,293		probably benign	Het
Atp2a3	G	T	11: 72,972,220	V99L	possibly damaging	Het
Atp6v0a1	T	A	11: 101,048,482	I691N	possibly damaging	Het
Atp8b1	C	T	18: 64,561,636	R525Q	probably benign	Het
Aurkb	A	G	11: 69,048,544	D151G	probably damaging	Het
Bank1	A	T	3: 136,066,518		probably benign	Het
Bcl9l	T	C	9: 44,507,406	L847P	probably damaging	Het
Bscl2	T	A	19: 8,847,429	M292K	probably benign	Het
Cacna1c	C	T	6: 118,602,402		probably benign	Het
Cadps2	T	C	6: 23,599,440	K260R	probably benign	Het
Cc2d2a	T	C	5: 43,736,118	S1419P	probably damaging	Het
Ccdc180	G	A	4: 45,914,803	E145K	probably benign	Het
Ccdc58	T	C	16: 36,082,814	S59P	probably damaging	Het
Ccno	C	T	13: 112,988,884		probably benign	Het
Cd300a	A	G	11: 114,893,376	D70G	probably benign	Het
Cenpc1	T	C	5: 86,032,403	D670G	probably benign	Het
Cenpl	A	G	1: 161,085,988	I323V	probably damaging	Het
Cfap44	A	G	16: 44,449,210		probably null	Het
Cfap74	C	T	4: 155,426,115	R386C	probably benign	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Clcnkb	T	C	4: 141,412,316	E125G	possibly damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Coro7	G	A	16: 4,627,504		probably benign	Het
Dchs1	C	T	7: 105,764,983	R875H	probably benign	Het
Eif3j1	A	C	2: 122,052,027	M239L	probably benign	Het
Eif4g3	G	T	4: 138,146,376		probably benign	Het
Erbb4	T	C	1: 68,043,960		probably benign	Het
Erlin2	T	G	8: 27,031,764	V164G	possibly damaging	Het
Fbxo43	G	T	15: 36,161,883	Q393K	probably benign	Het
Fcgr4	A	T	1: 171,025,760	N178I	possibly damaging	Het
Grid2	A	G	6: 64,063,953	N293S	possibly damaging	Het
H2-M1	C	T	17: 36,671,332	V126I	probably benign	Het
Htr1f	T	A	16: 64,926,749	Y60F	probably damaging	Het
Ilf2	A	G	3: 90,481,339		probably null	Het
Impg2	A	T	16: 56,265,049	K931*	probably null	Het
Ints1	T	C	5: 139,751,730	E2176G	probably damaging	Het
Iqsec2	T	C	X: 152,223,403	V1319A	probably benign	Het
Iqsec3	G	T	6: 121,410,724	D685E	probably damaging	Het
Itgbl1	G	A	14: 123,846,546	V279I	probably benign	Het
Kdm4b	C	T	17: 56,393,952	A541V	probably benign	Het
Kif14	A	T	1: 136,468,438	T161S	probably benign	Het
Krt86	T	C	15: 101,479,363		probably benign	Het
Kyat1	C	T	2: 30,187,186		probably null	Het
Limch1	T	C	5: 67,027,539	W791R	probably damaging	Het
Map3k11	T	A	19: 5,695,846	M396K	probably damaging	Het
Mat2a	A	G	6: 72,436,195		probably null	Het
Mbnl2	A	G	14: 120,379,237	I88V	possibly damaging	Het
Mib2	T	C	4: 155,655,673	T708A	probably benign	Het
Mkks	T	C	2: 136,877,606		probably null	Het
Mtss1	T	C	15: 58,944,017	M565V	probably damaging	Het
Myoc	A	G	1: 162,649,035	N436S	probably damaging	Het
Myod1	T	A	7: 46,377,112	V147E	probably damaging	Het
Ngef	A	G	1: 87,509,334	L144P	probably benign	Het
Ngrn	C	T	7: 80,261,930	R92W	probably damaging	Het
Nup153	G	A	13: 46,709,654	T349I	probably benign	Het
Olfr1211	T	A	2: 88,930,283	I11L	probably benign	Het
Olfr600	G	T	7: 103,346,204	S241R	possibly damaging	Het
Pigl	A	G	11: 62,503,748	I135M	probably damaging	Het
Pitpnm3	A	G	11: 72,070,492		probably benign	Het
Pkhd1	A	T	1: 20,358,917	F2420I	probably damaging	Het
Prr29	A	G	11: 106,376,896	Y130C	probably damaging	Het
Rab11fip3	T	C	17: 25,990,999	I1048V	probably damaging	Het
Rab12	G	A	17: 66,500,362	T124I	probably damaging	Het
Rab44	A	G	17: 29,140,307	S490G	probably benign	Het
Rasa3	A	G	8: 13,570,233		probably null	Het
Rhbdl3	C	T	11: 80,353,574	S369L	possibly damaging	Het
Rimbp2	A	T	5: 128,788,356	S643T	probably benign	Het
Rin1	T	G	19: 5,052,652	S396R	probably damaging	Het
Rpusd3	C	T	6: 113,419,237	G28S	probably damaging	Het
Rtl9	T	A	X: 143,100,278	S229T	probably damaging	Het
Rufy1	G	T	11: 50,389,852	T701N	probably benign	Het
Scn4a	A	T	11: 106,320,538	L1551*	probably null	Het
Sec24b	T	C	3: 129,988,984	N1119S	probably null	Het
Serbp1	T	A	6: 67,272,884	*75R	probably null	Het
Setx	C	T	2: 29,179,673	P2497S	probably benign	Het
Slc26a11	A	T	11: 119,359,314	I132F	probably damaging	Het
Slc4a1	A	G	11: 102,352,684	V707A	possibly damaging	Het
Slfn1	A	G	11: 83,121,843	I262V	probably damaging	Het
Tmem168	T	A	6: 13,583,313	D523V	possibly damaging	Het
Traf7	G	T	17: 24,510,551	Q469K	probably benign	Het
Trdmt1	C	A	2: 13,544,617	V6F	probably damaging	Het
Tsacc	A	T	3: 88,287,088		probably benign	Het
Vmn2r5	A	G	3: 64,491,530	I589T	possibly damaging	Het
Vmn2r7	T	C	3: 64,691,039	D699G	probably damaging	Het
Vmn2r82	T	C	10: 79,381,295	V487A	probably damaging	Het
Zfp287	A	T	11: 62,715,029	S351T	probably benign	Het
Zfp651	T	C	9: 121,767,666	V696A	probably damaging	Het
Zfp654	T	C	16: 64,785,688	H176R	possibly 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
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
R9275:Polr2b	UTSW	5	77323638	missense	probably damaging	1.00
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'- GGGTCTCACACCTTCTTCTGGCT -3'
(R):5'- AGCGGAGCAGAATACCTGCAAATAGA -3'

Sequencing Primer
(F):5'- tgcctagtctggctttaaactc -3'
(R):5'- ATAGAAGTGGGTCAGAACTGGC -3'

Posted On

2013-04-16