Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02168:Polr2c'

282800

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr2c

Ensembl Gene

ENSMUSG00000031783

Gene Name

polymerase (RNA) II (DNA directed) polypeptide C

Synonyms

33kDa, Rpo2-3, mRBP31, RPB3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL02168

Quality Score

Status

Chromosome

Chromosomal Location

95584078-95590870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95584394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 36 (R36G)

Ref Sequence

ENSEMBL: ENSMUSP00000148830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034234] [ENSMUST00000109521] [ENSMUST00000159871] [ENSMUST00000211939]

AlphaFold

P97760

Predicted Effect

probably benign
Transcript: ENSMUST00000034234

SMART Domains

Protein: ENSMUSP00000034234
Gene: ENSMUSG00000031782

Domain	Start	End	E-Value	Type
low complexity region	9	24	N/A	INTRINSIC
low complexity region	46	66	N/A	INTRINSIC
low complexity region	83	92	N/A	INTRINSIC
low complexity region	117	135	N/A	INTRINSIC
Pfam:COQ9	205	281	1.6e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109521
AA Change: R36G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105147
Gene: ENSMUSG00000031783
AA Change: R36G

Domain	Start	End	E-Value	Type
RPOLD	18	262	6.79e-105	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159638

Predicted Effect

probably benign
Transcript: ENSMUST00000159871

SMART Domains

Protein: ENSMUSP00000124695
Gene: ENSMUSG00000031782

Domain	Start	End	E-Value	Type
low complexity region	9	24	N/A	INTRINSIC
low complexity region	46	66	N/A	INTRINSIC
low complexity region	83	92	N/A	INTRINSIC
low complexity region	117	135	N/A	INTRINSIC
Pfam:COQ9	196	246	1.3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161208

Predicted Effect

probably benign
Transcript: ENSMUST00000211859

Predicted Effect

probably damaging
Transcript: ENSMUST00000212124
AA Change: R10G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211939
AA Change: R36G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211957

Predicted Effect

probably benign
Transcript: ENSMUST00000212848

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010007H06Rik	T	C	9: 51,191,801 (GRCm39)		probably benign	Het
6030468B19Rik	T	A	11: 117,689,244 (GRCm39)		probably benign	Het
Ankra2	G	A	13: 98,409,882 (GRCm39)		probably benign	Het
Astn1	C	A	1: 158,436,911 (GRCm39)	A823E	possibly damaging	Het
Cfap43	T	C	19: 47,740,362 (GRCm39)		probably benign	Het
Clec4b2	T	A	6: 123,181,156 (GRCm39)	N180K	probably damaging	Het
Col7a1	A	G	9: 108,813,143 (GRCm39)		probably benign	Het
Dhrs7c	T	C	11: 67,706,693 (GRCm39)	F284L	probably benign	Het
Dock1	T	C	7: 134,678,860 (GRCm39)		probably benign	Het
Entpd5	A	T	12: 84,433,752 (GRCm39)		probably null	Het
Heatr5b	A	T	17: 79,139,020 (GRCm39)		probably benign	Het
Kdm3a	A	G	6: 71,577,101 (GRCm39)	V738A	probably damaging	Het
Klf10	A	T	15: 38,297,085 (GRCm39)	F318L	probably damaging	Het
Mcc	A	C	18: 44,582,366 (GRCm39)	I770S	probably damaging	Het
Muc19	C	T	15: 91,778,292 (GRCm39)		noncoding transcript	Het
Or9a4	A	T	6: 40,548,317 (GRCm39)		probably benign	Het
Pcdh17	A	G	14: 84,770,635 (GRCm39)	T1038A	probably benign	Het
Pole2	A	G	12: 69,248,660 (GRCm39)		probably benign	Het
Ptgs2	A	G	1: 149,979,430 (GRCm39)		probably null	Het
Scart1	A	T	7: 139,803,399 (GRCm39)	H321L	probably benign	Het
Taf5	A	G	19: 47,070,917 (GRCm39)	D747G	probably damaging	Het
Tll1	T	G	8: 64,507,001 (GRCm39)	K580T	possibly damaging	Het
Tmc3	A	T	7: 83,269,203 (GRCm39)	N768I	possibly damaging	Het
Top1	G	T	2: 160,546,893 (GRCm39)		probably null	Het
Ubtf	T	C	11: 102,204,994 (GRCm39)	K97E	probably damaging	Het
Vcl	T	C	14: 21,057,355 (GRCm39)	V509A	probably benign	Het
Vmn2r110	A	T	17: 20,804,062 (GRCm39)		probably benign	Het
Zfp106	A	G	2: 120,364,712 (GRCm39)	V565A	possibly damaging	Het
Zfp458	A	T	13: 67,406,098 (GRCm39)	C111S	probably damaging	Het

Other mutations in Polr2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0391:Polr2c	UTSW	8	95,584,403 (GRCm39)	missense	possibly damaging	0.66
R0722:Polr2c	UTSW	8	95,589,265 (GRCm39)	missense	probably damaging	1.00
R2075:Polr2c	UTSW	8	95,590,195 (GRCm39)	missense	probably benign	0.00
R3769:Polr2c	UTSW	8	95,586,928 (GRCm39)	missense	probably damaging	1.00
R4426:Polr2c	UTSW	8	95,590,090 (GRCm39)	missense	probably damaging	1.00
R7539:Polr2c	UTSW	8	95,597,407 (GRCm39)	missense	unknown
R8056:Polr2c	UTSW	8	95,586,895 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16