Mutagenetix > Incidental Mutation

Incidental Mutation 'R0014:Polr2g'

262077

Institutional Source

Beutler Lab

Gene Symbol

Polr2g

Ensembl Gene

ENSMUSG00000071662

Gene Name

polymerase (RNA) II (DNA directed) polypeptide G

Synonyms

Rpo2-7l, A230108L04Rik, RBP7, 2410046K11Rik

MMRRC Submission

038309-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R0014 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

8770493-8775921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8771016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 160 (I160T)

Ref Sequence

ENSEMBL: ENSMUSP00000093980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096261]

AlphaFold

P62488

Predicted Effect

probably damaging
Transcript: ENSMUST00000096261
AA Change: I160T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093980
Gene: ENSMUSG00000071662
AA Change: I160T

Domain	Start	End	E-Value	Type
Pfam:SHS2_Rpb7-N	8	77	1e-18	PFAM
S1	80	162	1.75e-4	SMART

Meta Mutation Damage Score

0.4096

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,791,581 (GRCm39)	D92V	probably damaging	Het
Ankrd52	C	A	10: 128,222,321 (GRCm39)	T583K	probably benign	Het
C3ar1	C	T	6: 122,827,810 (GRCm39)	V136M	probably damaging	Het
Capg	A	G	6: 72,538,026 (GRCm39)	E304G	possibly damaging	Het
Ccdc125	A	C	13: 100,820,846 (GRCm39)	N189T	possibly damaging	Het
Ccr5	T	C	9: 123,924,658 (GRCm39)	F87S	probably damaging	Het
Cd2ap	T	C	17: 43,118,819 (GRCm39)	S540G	probably benign	Het
Cdt1	C	T	8: 123,299,305 (GRCm39)	T529M	probably benign	Het
Cfap126	A	G	1: 170,953,353 (GRCm39)	D49G	possibly damaging	Het
Cngb3	T	C	4: 19,396,685 (GRCm39)	I346T	probably benign	Het
Degs1l	T	C	1: 180,882,696 (GRCm39)	F153L	possibly damaging	Het
Dgkd	A	G	1: 87,809,603 (GRCm39)	D97G	probably damaging	Het
Dgkg	A	T	16: 22,384,114 (GRCm39)		probably null	Het
Dmbx1	G	T	4: 115,775,221 (GRCm39)	T358K	probably damaging	Het
Dnai3	T	C	3: 145,787,178 (GRCm39)		probably null	Het
Epc2	A	T	2: 49,412,537 (GRCm39)	K172*	probably null	Het
F2rl2	A	T	13: 95,837,417 (GRCm39)	N154I	probably damaging	Het
Fyttd1	G	A	16: 32,725,924 (GRCm39)	R175Q	probably damaging	Het
Gbp5	T	A	3: 142,212,496 (GRCm39)	C395S	probably damaging	Het
Gen1	T	C	12: 11,291,642 (GRCm39)	N716D	probably benign	Het
Helz2	A	G	2: 180,882,304 (GRCm39)	L163P	probably damaging	Het
Hmox2	T	A	16: 4,582,897 (GRCm39)	L210Q	probably damaging	Het
Klhl28	T	C	12: 65,004,076 (GRCm39)	T146A	probably benign	Het
Lrrk2	T	C	15: 91,686,248 (GRCm39)		probably benign	Het
Man2c1	T	A	9: 57,046,985 (GRCm39)	M580K	probably benign	Het
Neb	G	A	2: 52,177,168 (GRCm39)	A1391V	probably damaging	Het
Nyap2	T	C	1: 81,219,666 (GRCm39)	S563P	probably damaging	Het
Or2at4	T	C	7: 99,385,256 (GRCm39)	V302A	probably damaging	Het
Or4k51	A	G	2: 111,585,119 (GRCm39)	D175G	probably damaging	Het
Or55b3	A	G	7: 102,126,684 (GRCm39)	I131T	probably damaging	Het
P2rx5	T	A	11: 73,057,888 (GRCm39)		probably benign	Het
Pclo	C	T	5: 14,730,465 (GRCm39)		probably benign	Het
Pex1	G	A	5: 3,676,141 (GRCm39)		probably benign	Het
Psma8	A	G	18: 14,859,587 (GRCm39)	I86V	possibly damaging	Het
Ptpdc1	G	T	13: 48,740,395 (GRCm39)	Y345*	probably null	Het
Rcbtb1	G	T	14: 59,472,691 (GRCm39)	K493N	probably benign	Het
Rexo2	A	T	9: 48,385,747 (GRCm39)	S126T	probably benign	Het
Rorc	T	A	3: 94,284,920 (GRCm39)		probably benign	Het
Slc7a2	T	C	8: 41,364,065 (GRCm39)	L426P	probably damaging	Het
Syde1	T	C	10: 78,425,868 (GRCm39)	T100A	probably benign	Het
Tbc1d20	A	T	2: 152,153,701 (GRCm39)	Q342L	probably benign	Het
Thbs1	A	G	2: 117,943,831 (GRCm39)	T150A	possibly damaging	Het
Trpm1	A	G	7: 63,897,970 (GRCm39)	H317R	probably damaging	Het
Tut1	T	A	19: 8,939,811 (GRCm39)	L265Q	possibly damaging	Het
Wdfy4	A	G	14: 32,829,130 (GRCm39)	F1029L	possibly damaging	Het
Wdr7	A	G	18: 64,037,172 (GRCm39)	T1199A	probably benign	Het
Zfp458	A	G	13: 67,406,154 (GRCm39)	V95A	possibly damaging	Het
Zscan18	A	T	7: 12,503,344 (GRCm39)	F738L	possibly damaging	Het

Other mutations in Polr2g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01994:Polr2g	APN	19	8,771,740 (GRCm39)	splice site	probably benign
IGL02474:Polr2g	APN	19	8,775,820 (GRCm39)	splice site	probably null
IGL03346:Polr2g	APN	19	8,775,669 (GRCm39)	missense	probably damaging	1.00
R0015:Polr2g	UTSW	19	8,771,016 (GRCm39)	missense	probably damaging	0.99
R0015:Polr2g	UTSW	19	8,771,016 (GRCm39)	missense	probably damaging	0.99
R5372:Polr2g	UTSW	19	8,774,667 (GRCm39)	missense	probably damaging	1.00
R6073:Polr2g	UTSW	19	8,774,673 (GRCm39)	missense	probably damaging	0.99
R6177:Polr2g	UTSW	19	8,771,541 (GRCm39)	missense	probably damaging	1.00
R8213:Polr2g	UTSW	19	8,775,621 (GRCm39)	missense	probably damaging	1.00
R8963:Polr2g	UTSW	19	8,771,513 (GRCm39)	missense	probably damaging	1.00
R9325:Polr2g	UTSW	19	8,774,669 (GRCm39)	missense	probably benign	0.04
R9643:Polr2g	UTSW	19	8,774,631 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCACGAGCCCTATGAGATCAG -3'
(R):5'- TGTGTAGCAAGCTCTTTCACCACC -3'

Sequencing Primer
(F):5'- TCAGTCAGACACCGAGTTCC -3'
(R):5'- gctctttcaccacctgcac -3'

Posted On

2015-02-04