Incidental Mutation 'R0086:Polr2i'
ID 19896
Institutional Source Beutler Lab
Gene Symbol Polr2i
Ensembl Gene ENSMUSG00000019738
Gene Name polymerase (RNA) II (DNA directed) polypeptide I
Synonyms 2810002B19Rik
MMRRC Submission 038373-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R0086 (G1)
Quality Score 192
Status Validated
Chromosome 7
Chromosomal Location 29931499-29932812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29932511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 73 (V73M)
Ref Sequence ENSEMBL: ENSMUSP00000116741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006254] [ENSMUST00000019882] [ENSMUST00000108192] [ENSMUST00000108193] [ENSMUST00000149654] [ENSMUST00000189482]
AlphaFold P60898
Predicted Effect probably benign
Transcript: ENSMUST00000006254
SMART Domains Protein: ENSMUSP00000006254
Gene: ENSMUSG00000006095

DomainStartEndE-ValueType
Pfam:Ubiquitin_2 10 94 9.6e-30 PFAM
low complexity region 135 152 N/A INTRINSIC
CAP_GLY 161 230 4.76e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000019882
AA Change: V95M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019882
Gene: ENSMUSG00000019738
AA Change: V95M

DomainStartEndE-ValueType
RPOL9 15 68 1.22e-24 SMART
ZnF_C2C2 84 125 2.18e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108192
AA Change: V73M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103827
Gene: ENSMUSG00000019738
AA Change: V73M

DomainStartEndE-ValueType
RPOL9 1 46 5.45e-13 SMART
ZnF_C2C2 62 103 2.18e-11 SMART
Predicted Effect unknown
Transcript: ENSMUST00000108193
AA Change: S114N
SMART Domains Protein: ENSMUSP00000103828
Gene: ENSMUSG00000019738
AA Change: S114N

DomainStartEndE-ValueType
Pfam:RNA_POL_M_15KD 14 41 1.8e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138886
Predicted Effect probably damaging
Transcript: ENSMUST00000149654
AA Change: V73M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116741
Gene: ENSMUSG00000019738
AA Change: V73M

DomainStartEndE-ValueType
RPOL9 1 46 5.45e-13 SMART
Blast:ZnF_C2C2 62 83 2e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145559
Predicted Effect probably benign
Transcript: ENSMUST00000189482
SMART Domains Protein: ENSMUSP00000140811
Gene: ENSMUSG00000100512

DomainStartEndE-ValueType
ZnF_C2H2 69 91 3.2e-4 SMART
ZnF_C2H2 97 119 1.4e-6 SMART
ZnF_C2H2 125 148 3.2e-5 SMART
ZnF_C2H2 164 186 5.3e-4 SMART
Meta Mutation Damage Score 0.6635 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.6%
  • 20x: 86.6%
Validation Efficiency 96% (91/95)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,946,802 (GRCm39) V233D probably benign Het
Abcg8 T C 17: 85,000,199 (GRCm39) V252A probably damaging Het
Adam39 C T 8: 41,279,397 (GRCm39) T596I possibly damaging Het
Agap2 C A 10: 126,923,751 (GRCm39) probably null Het
Ap4b1 T G 3: 103,722,176 (GRCm39) V50G probably damaging Het
Atp13a1 T A 8: 70,250,424 (GRCm39) I381N possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Birc6 T C 17: 74,900,161 (GRCm39) V1113A possibly damaging Het
C1galt1 T A 6: 7,867,051 (GRCm39) probably benign Het
Capza2 A G 6: 17,660,773 (GRCm39) K158E probably damaging Het
Cenpe C T 3: 134,970,185 (GRCm39) probably benign Het
Cercam T C 2: 29,761,076 (GRCm39) L42P probably damaging Het
Cfap54 T C 10: 92,864,456 (GRCm39) E807G possibly damaging Het
Cog6 A G 3: 52,900,991 (GRCm39) V157A probably damaging Het
Cts6 A T 13: 61,344,271 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,357 (GRCm39) I15F unknown Het
Dock7 A T 4: 98,833,381 (GRCm39) V1970D probably damaging Het
Exph5 A G 9: 53,249,230 (GRCm39) D73G possibly damaging Het
Gjc2 A T 11: 59,067,672 (GRCm39) M270K probably benign Het
Gns G A 10: 121,227,378 (GRCm39) D463N probably damaging Het
Hoxd8 G T 2: 74,536,276 (GRCm39) G129W probably damaging Het
Ina A G 19: 47,012,030 (GRCm39) T483A possibly damaging Het
Lmod3 T A 6: 97,224,306 (GRCm39) Q505L probably damaging Het
Map3k13 A G 16: 21,732,975 (GRCm39) N526D probably damaging Het
Map3k2 A T 18: 32,351,521 (GRCm39) I435F probably damaging Het
Mfsd6l A G 11: 68,447,391 (GRCm39) T81A probably benign Het
Micall1 T C 15: 79,009,689 (GRCm39) probably benign Het
Mkrn2 G T 6: 115,590,296 (GRCm39) M217I possibly damaging Het
Mtrex G T 13: 113,063,862 (GRCm39) F10L probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Ncapg A G 5: 45,834,086 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,972 (GRCm39) C530Y probably damaging Het
Numb T C 12: 83,842,704 (GRCm39) T442A probably damaging Het
Oip5 C T 2: 119,448,410 (GRCm39) probably benign Het
Or1j14 A T 2: 36,417,462 (GRCm39) I13F possibly damaging Het
Or4c119 C T 2: 88,986,820 (GRCm39) R233H probably benign Het
Or51k1 A G 7: 103,661,261 (GRCm39) I216T probably benign Het
Or8g22 T C 9: 38,958,191 (GRCm39) T175A probably benign Het
Pcnx1 T C 12: 82,038,832 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,419,404 (GRCm39) N2956K possibly damaging Het
Plcl1 T A 1: 55,754,742 (GRCm39) W1030R probably damaging Het
Prr14l T A 5: 32,988,903 (GRCm39) probably benign Het
Pxdn G T 12: 30,052,418 (GRCm39) R865L possibly damaging Het
Scnn1a T C 6: 125,319,550 (GRCm39) probably benign Het
Shkbp1 G T 7: 27,051,451 (GRCm39) H203N probably benign Het
Slc22a14 C T 9: 119,051,804 (GRCm39) probably benign Het
Snap29 C A 16: 17,246,100 (GRCm39) T240K probably damaging Het
Sp2 C A 11: 96,848,253 (GRCm39) G457C probably damaging Het
Ssr2 C T 3: 88,484,187 (GRCm39) probably benign Het
Synpo2 A T 3: 122,910,753 (GRCm39) C297* probably null Het
Tpm3 T A 3: 89,997,399 (GRCm39) probably benign Het
Trmt6 CTG C 2: 132,650,937 (GRCm39) probably benign Het
Trp63 T C 16: 25,689,837 (GRCm39) Y431H probably damaging Het
Tuba3b T A 6: 145,566,886 (GRCm39) C376S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Ulk1 G A 5: 110,935,573 (GRCm39) probably benign Het
Usp24 T C 4: 106,249,557 (GRCm39) S1425P probably damaging Het
Xdh T C 17: 74,191,433 (GRCm39) I1335V probably benign Het
Zmynd15 T C 11: 70,355,058 (GRCm39) Y352H probably damaging Het
Other mutations in Polr2i
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01617:Polr2i APN 7 29,931,817 (GRCm39) missense possibly damaging 0.71
R0594:Polr2i UTSW 7 29,932,170 (GRCm39) splice site probably null
R1474:Polr2i UTSW 7 29,932,227 (GRCm39) missense probably damaging 1.00
R1730:Polr2i UTSW 7 29,932,493 (GRCm39) missense probably damaging 1.00
R1783:Polr2i UTSW 7 29,932,493 (GRCm39) missense probably damaging 1.00
R8783:Polr2i UTSW 7 29,931,790 (GRCm39) missense possibly damaging 0.96
R9015:Polr2i UTSW 7 29,932,513 (GRCm39) missense unknown
R9792:Polr2i UTSW 7 29,932,190 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTGCGATTACCAGCAGGAAGCC -3'
(R):5'- GAAGGAACGATCACTCAGTCCAGC -3'

Sequencing Primer
(F):5'- CGGCCTGACCGCTAATTAC -3'
(R):5'- GCATGGCGTCCTAGCAATAAG -3'
Posted On 2013-04-11