Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Polr2g'

636293

Institutional Source

Beutler Lab

Gene Symbol

Polr2g

Ensembl Gene

ENSMUSG00000071662

Gene Name

polymerase (RNA) II (DNA directed) polypeptide G

Synonyms

2410046K11Rik, RBP7, A230108L04Rik, Rpo2-7l

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8793129-8798557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8798257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 30 (L30Q)

Ref Sequence

ENSEMBL: ENSMUSP00000093980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096261] [ENSMUST00000172175]

AlphaFold

P62488

Predicted Effect

probably damaging
Transcript: ENSMUST00000096261
AA Change: L30Q

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

SMART Domains

Protein: ENSMUSP00000093980
Gene: ENSMUSG00000071662
AA Change: L30Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172175

SMART Domains

Protein: ENSMUSP00000127746
Gene: ENSMUSG00000071661

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
BTB	24	123	4.37e-21	SMART
low complexity region	207	225	N/A	INTRINSIC
low complexity region	273	292	N/A	INTRINSIC
low complexity region	386	406	N/A	INTRINSIC
ZnF_C2H2	418	440	7.55e-1	SMART
ZnF_C2H2	446	469	3.11e-2	SMART

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,919,756	Y277C	probably damaging	Het
Acss1	T	A	2: 150,619,710	D651V	possibly damaging	Het
Aktip	G	T	8: 91,124,866	P243H	possibly damaging	Het
Arl11	T	G	14: 61,311,265	S175A	probably benign	Het
Aup1	A	G	6: 83,054,607		probably benign	Het
Avil	A	T	10: 127,008,321	I250F	probably damaging	Het
Btnl6	A	T	17: 34,508,883		probably null	Het
C77080	A	T	4: 129,221,459	V1070D	possibly damaging	Het
Ccdc7b	C	A	8: 129,178,291	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,639,881	E319K	unknown	Het
Chka	A	C	19: 3,885,882	E196A	probably damaging	Het
Depdc5	C	T	5: 32,937,637	R753C	probably damaging	Het
Dhx57	T	A	17: 80,275,156	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,702,693	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,207,133	L164M	probably benign	Het
Dock6	A	G	9: 21,831,444	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,116,071	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783	S226T	probably benign	Het
Fgd6	A	T	10: 94,044,052	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113	Y218*	probably null	Het
Filip1	C	A	9: 79,818,092	A1082S	probably benign	Het
Gm13088	T	A	4: 143,654,185	M423L	probably benign	Het
Gm13128	A	T	4: 144,330,460	D71V	probably benign	Het
Heatr5a	G	A	12: 51,891,443	T1484M	probably damaging	Het
Herc1	G	T	9: 66,450,888	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,317,175		probably benign	Het
Igsf5	A	T	16: 96,372,988	I73F	probably damaging	Het
Il17ra	T	C	6: 120,473,034	V91A	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,566,356	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,444,721	Y353N	probably damaging	Het
Nepn	A	T	10: 52,391,759	E40D	probably benign	Het
Npat	G	T	9: 53,570,570	E1193*	probably null	Het
Nrde2	G	A	12: 100,131,003	S846L	probably benign	Het
Nup205	T	C	6: 35,225,203	V1290A	probably benign	Het
Olfr1009	T	A	2: 85,721,501	L32Q	probably null	Het
Olfr1424	A	G	19: 12,059,092	V220A	probably benign	Het
Olfr517	C	A	7: 108,868,519	V212L	probably benign	Het
Pde6a	A	T	18: 61,220,696	K31M	possibly damaging	Het
Pms2	C	T	5: 143,914,771	R169C	probably damaging	Het
Prdm15	T	A	16: 97,807,060	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,023,386	Y214*	probably null	Het
Prlr	C	T	15: 10,329,242	T601M	possibly damaging	Het
Psen2	A	C	1: 180,245,691	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,722,914	R764L	probably damaging	Het
Scgb2b11	T	C	7: 32,209,408	E89G	probably damaging	Het
Serpina10	T	C	12: 103,628,277	I228V	probably benign	Het
Serpinb1a	T	A	13: 32,842,999	H320L	probably damaging	Het
Sesn2	C	A	4: 132,498,053	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,251,011	W1019R	probably damaging	Het
Sqle	A	G	15: 59,321,302		probably null	Het
Syt14	T	C	1: 192,986,829	M39V	probably benign	Het
Tgm7	A	G	2: 121,101,064	V206A	probably damaging	Het
Thbs4	T	C	13: 92,760,586		probably null	Het
Trpv1	T	C	11: 73,254,251	F721S	probably damaging	Het
Ttll10	A	T	4: 156,036,234	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,099,525	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,470,088	S494F	probably benign	Het
Vwa3b	C	T	1: 37,128,939	A603V	probably benign	Het
Xirp2	T	A	2: 67,476,866	N19K	probably damaging	Het
Zfp397	T	A	18: 23,960,722	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly damaging	Het

Other mutations in Polr2g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01994:Polr2g	APN	19	8794376	splice site	probably benign
IGL02474:Polr2g	APN	19	8798456	splice site	probably null
IGL03346:Polr2g	APN	19	8798305	missense	probably damaging	1.00
R0014:Polr2g	UTSW	19	8793652	missense	probably damaging	0.99
R0015:Polr2g	UTSW	19	8793652	missense	probably damaging	0.99
R0015:Polr2g	UTSW	19	8793652	missense	probably damaging	0.99
R5372:Polr2g	UTSW	19	8797303	missense	probably damaging	1.00
R6073:Polr2g	UTSW	19	8797309	missense	probably damaging	0.99
R6177:Polr2g	UTSW	19	8794177	missense	probably damaging	1.00
R8963:Polr2g	UTSW	19	8794149	missense	probably damaging	1.00
R9325:Polr2g	UTSW	19	8797305	missense	probably benign	0.04
R9643:Polr2g	UTSW	19	8797267	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAACTGGCTGCTTCAGGTG -3'
(R):5'- CTGCAGAAGATGTTTTATCACGTGAG -3'

Sequencing Primer
(F):5'- CTGCTTCAGGTGCCTGG -3'
(R):5'- ATCACGTGAGCTGGATGC -3'

Posted On

2020-07-13