Incidental Mutation 'R3769:Polr2c'
ID 273169
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 040746-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R3769 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 95584078-95590870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95586928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 65 (A65T)
Ref Sequence ENSEMBL: ENSMUSP00000148830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046461] [ENSMUST00000109521] [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 possibly damaging
Transcript: ENSMUST00000109521
AA Change: A65T

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105147
Gene: ENSMUSG00000031783
AA Change: A65T

DomainStartEndE-ValueType
RPOLD 18 262 6.79e-105 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000211939
AA Change: A65T

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 unknown
Transcript: ENSMUST00000212124
AA Change: A39T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212744
Predicted Effect probably benign
Transcript: ENSMUST00000212810
Predicted Effect probably benign
Transcript: ENSMUST00000212848
Meta Mutation Damage Score 0.6897 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (47/48)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Ccer1 G A 10: 97,530,414 (GRCm39) G359E probably damaging Het
Cdkal1 T C 13: 29,736,386 (GRCm39) probably null Het
Celf1 T C 2: 90,828,993 (GRCm39) V20A probably damaging Het
Cep350 G A 1: 155,828,950 (GRCm39) T318I probably damaging Het
Chn2 A G 6: 54,267,396 (GRCm39) D159G probably damaging Het
Chst5 T A 8: 112,616,513 (GRCm39) D369V possibly damaging Het
Cmya5 A T 13: 93,233,201 (GRCm39) I629K possibly damaging Het
Cplx4 T C 18: 66,102,998 (GRCm39) T41A probably benign Het
Ddx3x T C X: 13,156,808 (GRCm39) probably benign Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Dpy19l4 T C 4: 11,276,868 (GRCm39) probably null Het
Fgf10 G T 13: 118,918,083 (GRCm39) V124F probably damaging Het
Gm6356 C A 14: 6,971,774 (GRCm38) M120I probably benign Het
Gm7964 T A 7: 83,405,338 (GRCm39) V76D probably damaging Het
Gm826 A G 2: 160,169,165 (GRCm39) V48A unknown Het
Hoxb5 A G 11: 96,194,795 (GRCm39) D119G possibly damaging Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Itgb2 T C 10: 77,385,802 (GRCm39) V255A possibly damaging Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Mgl2 T C 11: 70,026,659 (GRCm39) L128P probably damaging Het
Or1ad6 A G 11: 50,860,385 (GRCm39) D180G probably damaging Het
Pdia6 T C 12: 17,320,457 (GRCm39) V32A probably damaging Het
Pex6 G T 17: 47,035,311 (GRCm39) probably null Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Scn5a G A 9: 119,381,142 (GRCm39) probably benign Het
Sh3rf3 A G 10: 58,820,013 (GRCm39) T275A probably benign Het
Slc27a2 A G 2: 126,409,718 (GRCm39) D300G possibly damaging Het
Slc35e1 A T 8: 73,245,714 (GRCm39) I155N possibly damaging Het
Slco1a4 A G 6: 141,785,357 (GRCm39) Y78H probably damaging Het
Snx15 T A 19: 6,173,984 (GRCm39) probably benign Het
Top1 A T 2: 160,563,442 (GRCm39) I758F probably damaging Het
U2surp A G 9: 95,375,750 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ulk4 A G 9: 121,092,766 (GRCm39) V157A probably benign Het
Urgcp T C 11: 5,667,000 (GRCm39) Y446C probably damaging Het
Vps51 T C 19: 6,126,378 (GRCm39) T125A possibly damaging Het
Ypel1 T C 16: 16,927,532 (GRCm39) H20R probably benign Het
Zfp458 T A 13: 67,405,546 (GRCm39) I298F probably damaging Het
Zfp747l1 A G 7: 126,984,035 (GRCm39) 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
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
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'- GGTCAGGACACCTTCAACTTTG -3'
(R):5'- TCCACAATGTCATCACTAGTGAGG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TCATCACTAGTGAGGGGGATTAAACC -3'
Posted On 2015-03-25