Mutagenetix > Incidental Mutation

Incidental Mutation 'R6073:Polr2g'

482612

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

044234-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6073 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8770493-8775921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8774673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 70 (V70E)

Ref Sequence

ENSEMBL: ENSMUSP00000093980 (fasta)

Gene Model

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

AlphaFold

P62488

Predicted Effect

probably damaging
Transcript: ENSMUST00000096261
AA Change: V70E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093980
Gene: ENSMUSG00000071662
AA Change: V70E

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

0.6329

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

97% (57/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb2	A	T	18: 62,312,537 (GRCm39)	M96K	probably benign	Het
Aox1	T	C	1: 58,143,668 (GRCm39)		probably null	Het
Bnip5	A	T	17: 29,123,597 (GRCm39)	V367D	probably damaging	Het
C3	C	T	17: 57,513,223 (GRCm39)	G183R	probably null	Het
Cad	A	G	5: 31,219,906 (GRCm39)	T753A	possibly damaging	Het
Cc2d2a	C	T	5: 43,887,317 (GRCm39)	T1249M	probably damaging	Het
Cd74	G	A	18: 60,944,558 (GRCm39)		probably null	Het
Cenpc1	A	G	5: 86,206,012 (GRCm39)		probably null	Het
Cenpe	T	A	3: 134,965,834 (GRCm39)	L2104*	probably null	Het
Cttnbp2	A	G	6: 18,434,232 (GRCm39)	I542T	probably damaging	Het
Cttnbp2	T	C	6: 18,448,368 (GRCm39)	D97G	probably benign	Het
Dnah10	A	G	5: 124,896,274 (GRCm39)	D3546G	probably benign	Het
Dscaml1	G	A	9: 45,361,881 (GRCm39)	V214I	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l2	T	G	10: 25,377,730 (GRCm39)	H597Q	probably damaging	Het
Erbin	G	A	13: 103,981,429 (GRCm39)	Q499*	probably null	Het
Erc2	A	T	14: 27,733,593 (GRCm39)	I556F	probably benign	Het
Fscn2	G	T	11: 120,252,613 (GRCm39)	E27*	probably null	Het
Fsd1l	A	G	4: 53,679,994 (GRCm39)	T231A	probably damaging	Het
G6pc1	T	A	11: 101,258,802 (GRCm39)	N60K	probably benign	Het
Gm43302	A	G	5: 105,438,825 (GRCm39)	V21A	probably damaging	Het
Heatr3	G	T	8: 88,864,768 (GRCm39)	A41S	probably benign	Het
Hrct1	T	C	4: 43,727,543 (GRCm39)		probably benign	Het
Ihh	T	C	1: 74,990,438 (GRCm39)		probably benign	Het
Jph3	A	T	8: 122,480,291 (GRCm39)	Y323F	probably damaging	Het
Kcnj5	T	C	9: 32,229,096 (GRCm39)	D34G	probably damaging	Het
Magi2	G	A	5: 20,774,286 (GRCm39)	E231K	probably damaging	Het
Muc5b	A	C	7: 141,412,025 (GRCm39)	Y1657S	unknown	Het
Muc5b	G	A	7: 141,402,797 (GRCm39)	C667Y	unknown	Het
Myo10	G	A	15: 25,736,728 (GRCm39)	C459Y	probably damaging	Het
Nemp1	A	G	10: 127,525,112 (GRCm39)	K40E	probably benign	Het
Nipsnap1	T	C	11: 4,838,895 (GRCm39)	F107S	possibly damaging	Het
Ntrk1	T	C	3: 87,698,677 (GRCm39)		probably null	Het
Pabpc1	A	G	15: 36,600,895 (GRCm39)	I305T	probably damaging	Het
Piezo2	A	G	18: 63,145,716 (GRCm39)	F2736S	probably damaging	Het
Pnldc1	T	C	17: 13,109,250 (GRCm39)	Y450C	probably null	Het
Pramel23	T	C	4: 143,424,838 (GRCm39)	I202V	probably damaging	Het
Prpf8	T	C	11: 75,384,848 (GRCm39)		probably null	Het
Rfxap	T	C	3: 54,714,708 (GRCm39)	Y130C	probably damaging	Het
Rpl3l	A	G	17: 24,949,861 (GRCm39)	E20G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
Slc39a10	T	C	1: 46,871,772 (GRCm39)	D389G	possibly damaging	Het
Sorbs1	T	C	19: 40,303,101 (GRCm39)	H496R	probably damaging	Het
Spast	G	A	17: 74,680,300 (GRCm39)	V420M	probably damaging	Het
Spata13	C	T	14: 60,987,470 (GRCm39)	T876I	probably damaging	Het
Spata31d1a	T	A	13: 59,850,808 (GRCm39)	N440I	probably damaging	Het
Tdrd1	G	T	19: 56,831,655 (GRCm39)	E349*	probably null	Het
Tie1	A	G	4: 118,339,587 (GRCm39)	V398A	probably benign	Het
Tmem255b	T	A	8: 13,506,958 (GRCm39)	L229Q	probably damaging	Het
Tmem59	T	A	4: 107,050,598 (GRCm39)		probably null	Het
Trim3	G	A	7: 105,266,746 (GRCm39)	R479C	probably damaging	Het
Ucp2	G	A	7: 100,147,338 (GRCm39)	V131M	possibly damaging	Het
Vars1	A	G	17: 35,220,505 (GRCm39)	D29G	probably benign	Het
Vmn2r43	T	C	7: 8,258,184 (GRCm39)	K343R	probably benign	Het
Washc5	T	C	15: 59,207,019 (GRCm39)	K1085E	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp963	A	T	8: 70,195,853 (GRCm39)	C86*	probably null	Het
Zfp977	A	G	7: 42,230,165 (GRCm39)	I120T	probably benign	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
R0014: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
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
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'- GGCTACACAGAGAAACCCTGTC -3'
(R):5'- TCAATGAACCATCTGAACAGAGG -3'

Posted On

2017-07-14