Incidental Mutation 'R0722:Polr2c'
ID 63563
Institutional Source Beutler Lab
Gene Symbol Polr2c
Ensembl Gene ENSMUSG00000031783
Gene Name polymerase (RNA) II (DNA directed) polypeptide C
Synonyms 33kDa, Rpo2-3, mRBP31, RPB3
MMRRC Submission 038904-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R0722 (G1)
Quality Score 92
Status Validated
Chromosome 8
Chromosomal Location 95584078-95590870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95589265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 186 (Y186N)
Ref Sequence ENSEMBL: ENSMUSP00000105147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046461] [ENSMUST00000109521] [ENSMUST00000211892] [ENSMUST00000211939] [ENSMUST00000212810]
AlphaFold P97760
Predicted Effect probably benign
Transcript: ENSMUST00000046461
SMART Domains Protein: ENSMUSP00000043554
Gene: ENSMUSG00000040631

DomainStartEndE-ValueType
PH 8 114 5.09e-6 SMART
PTBI 130 232 2.82e-57 SMART
IRS 135 232 5.51e-40 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109521
AA Change: Y186N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105147
Gene: ENSMUSG00000031783
AA Change: Y186N

DomainStartEndE-ValueType
RPOLD 18 262 6.79e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211892
Predicted Effect probably damaging
Transcript: ENSMUST00000211939
AA Change: Y186N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212120
Predicted Effect probably benign
Transcript: ENSMUST00000212124
Predicted Effect unknown
Transcript: ENSMUST00000212848
AA Change: Y98N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212744
Predicted Effect probably benign
Transcript: ENSMUST00000212810
Meta Mutation Damage Score 0.9619 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.7%
Validation Efficiency 97% (63/65)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 T C 11: 80,047,810 (GRCm39) F89L possibly damaging Het
Akr1c13 A G 13: 4,247,931 (GRCm39) probably null Het
Atp10a A G 7: 58,465,931 (GRCm39) I1053V possibly damaging Het
Bmper G T 9: 23,285,224 (GRCm39) V258L probably benign Het
Brd4 T C 17: 32,431,956 (GRCm39) H636R possibly damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Ccbe1 C T 18: 66,217,877 (GRCm39) C112Y probably damaging Het
Ccdc28b T A 4: 129,514,945 (GRCm39) probably null Het
Cd320 T C 17: 34,065,004 (GRCm39) S46P possibly damaging Het
Cfap251 T A 5: 123,394,248 (GRCm39) V379E probably damaging Het
Cfap44 G A 16: 44,225,039 (GRCm39) E95K possibly damaging Het
Clpp T C 17: 57,299,901 (GRCm39) V144A probably damaging Het
Crtam A T 9: 40,903,912 (GRCm39) C96S probably damaging Het
Dcst1 C T 3: 89,261,112 (GRCm39) R480H probably benign Het
Dock2 A T 11: 34,414,970 (GRCm39) probably benign Het
Ermard A G 17: 15,242,390 (GRCm39) T189A probably benign Het
Gm10840 A G 11: 106,051,902 (GRCm39) probably benign Het
Gm4845 T A 1: 141,184,598 (GRCm39) noncoding transcript Het
Heatr1 A G 13: 12,420,918 (GRCm39) E403G probably benign Het
Herc4 A G 10: 63,121,844 (GRCm39) I399V probably null Het
Htr1f A G 16: 64,746,254 (GRCm39) I346T probably damaging Het
Igf2r T C 17: 12,934,382 (GRCm39) probably null Het
Jmy G A 13: 93,589,325 (GRCm39) T644I probably benign Het
Kcnn2 T C 18: 45,692,543 (GRCm39) C40R possibly damaging Het
Krt13 T G 11: 100,009,979 (GRCm39) K297T probably damaging Het
Lrba T C 3: 86,513,296 (GRCm39) probably null Het
Lrrc8b T C 5: 105,627,978 (GRCm39) V108A possibly damaging Het
Lrrc8c T A 5: 105,727,414 (GRCm39) V26E probably damaging Het
Or10g6 A G 9: 39,934,295 (GRCm39) D202G probably damaging Het
Or5p6 A G 7: 107,631,541 (GRCm39) F3S probably benign Het
Pcna A G 2: 132,093,155 (GRCm39) probably benign Het
Pgm2 A T 5: 64,265,022 (GRCm39) R348* probably null Het
Pikfyve T G 1: 65,292,682 (GRCm39) S1378A probably damaging Het
Pkp2 T C 16: 16,064,892 (GRCm39) V472A probably benign Het
Pld5 A G 1: 175,803,081 (GRCm39) F395L probably benign Het
Plekhb1 A T 7: 100,294,810 (GRCm39) Y169N probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prr5l A G 2: 101,547,819 (GRCm39) probably benign Het
Ptbp2 C T 3: 119,514,570 (GRCm39) R419Q possibly damaging Het
Ralgapa2 A G 2: 146,230,451 (GRCm39) V1038A probably damaging Het
Rassf2 A G 2: 131,844,830 (GRCm39) V204A probably damaging Het
Slc22a22 T C 15: 57,119,949 (GRCm39) probably null Het
Slit1 T C 19: 41,596,874 (GRCm39) Y1075C probably damaging Het
Smc5 C A 19: 23,186,291 (GRCm39) L1055F probably damaging Het
Spidr A G 16: 15,730,645 (GRCm39) F620S probably damaging Het
Susd1 A G 4: 59,379,749 (GRCm39) S293P possibly damaging Het
Tepsin A G 11: 119,986,163 (GRCm39) probably benign Het
Vmn2r68 A T 7: 84,870,794 (GRCm39) L830I possibly damaging Het
Vtn A G 11: 78,391,680 (GRCm39) probably benign Het
Zfp267 C T 3: 36,219,218 (GRCm39) H414Y probably benign Het
Zfp280d T G 9: 72,219,383 (GRCm39) S162A possibly damaging Het
Zfp608 T G 18: 55,033,306 (GRCm39) K409T probably damaging Het
Zfp738 A T 13: 67,819,643 (GRCm39) M116K probably benign Het
Other mutations in Polr2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02168:Polr2c APN 8 95,584,394 (GRCm39) missense probably damaging 1.00
R0391:Polr2c UTSW 8 95,584,403 (GRCm39) missense possibly damaging 0.66
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
Predicted Primers PCR Primer
(F):5'- TCTTTGGACCCTTTGCCAAGATGTG -3'
(R):5'- TCCTCATCCAGCTCGGAATACTCAC -3'

Sequencing Primer
(F):5'- TGCAGTACTACAGGTCACAAGTTG -3'
(R):5'- AGCTCGGAATACTCACTCTTGG -3'
Posted On 2013-07-30