Incidental Mutation 'IGL03346:Polr2g'
ID 417442
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr2g
Ensembl Gene ENSMUSG00000071662
Gene Name polymerase (RNA) II (DNA directed) polypeptide G
Synonyms Rpo2-7l, A230108L04Rik, RBP7, 2410046K11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL03346
Quality Score
Status
Chromosome 19
Chromosomal Location 8770493-8775921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8775669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 14 (H14R)
Ref Sequence ENSEMBL: ENSMUSP00000093980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096261] [ENSMUST00000172175]
AlphaFold P62488
Predicted Effect probably damaging
Transcript: ENSMUST00000096261
AA Change: H14R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093980
Gene: ENSMUSG00000071662
AA Change: H14R

DomainStartEndE-ValueType
Pfam:SHS2_Rpb7-N 8 77 1e-18 PFAM
S1 80 162 1.75e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172175
SMART Domains Protein: ENSMUSP00000127746
Gene: ENSMUSG00000071661

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
BTB 24 123 4.37e-21 SMART
low complexity region 207 225 N/A INTRINSIC
low complexity region 273 292 N/A INTRINSIC
low complexity region 386 406 N/A INTRINSIC
ZnF_C2H2 418 440 7.55e-1 SMART
ZnF_C2H2 446 469 3.11e-2 SMART
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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 C T 16: 29,133,422 (GRCm39) V410M probably benign Het
Cdkn2aip G T 8: 48,166,653 (GRCm39) D51E probably benign Het
Chd6 A G 2: 160,802,282 (GRCm39) V2184A probably benign Het
Clcn1 C T 6: 42,288,153 (GRCm39) T797I probably benign Het
Cldn23 G A 8: 36,292,594 (GRCm39) probably benign Het
Cntnap4 A G 8: 113,500,208 (GRCm39) D500G probably benign Het
Cog5 A T 12: 31,944,037 (GRCm39) I641F possibly damaging Het
Cr2 A T 1: 194,852,067 (GRCm39) V94E probably damaging Het
Creg2 T G 1: 39,689,915 (GRCm39) D65A probably damaging Het
Dennd4a A G 9: 64,795,808 (GRCm39) R711G possibly damaging Het
Efr3b A G 12: 4,034,648 (GRCm39) V58A probably damaging Het
Fbxo3 A G 2: 103,880,639 (GRCm39) T250A probably damaging Het
Fzr1 T C 10: 81,205,018 (GRCm39) T300A probably benign Het
Gabrg1 A T 5: 70,935,474 (GRCm39) Y227N possibly damaging Het
Gins3 A G 8: 96,369,903 (GRCm39) I197V probably benign Het
Gm17079 T C 14: 51,930,420 (GRCm39) T142A possibly damaging Het
Gna15 T C 10: 81,338,879 (GRCm39) Y320C probably damaging Het
H2-T5 C A 17: 36,479,001 (GRCm39) D83Y probably damaging Het
Hibch G A 1: 52,959,539 (GRCm39) probably benign Het
Kif5b G A 18: 6,222,767 (GRCm39) R355W probably damaging Het
Klf1 T C 8: 85,629,561 (GRCm39) S129P probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Nat8f5 A G 6: 85,794,640 (GRCm39) S107P probably damaging Het
Or2t49 A G 11: 58,392,581 (GRCm39) L267P possibly damaging Het
Or8g24 T A 9: 38,989,258 (GRCm39) Q261L probably damaging Het
Or8g24 C A 9: 38,989,257 (GRCm39) Q261H probably benign Het
Pcdhb18 G A 18: 37,622,674 (GRCm39) M1I probably null Het
Plcb3 A G 19: 6,932,420 (GRCm39) F1080L probably benign Het
Rp1l1 A G 14: 64,266,889 (GRCm39) D825G probably benign Het
Scn3a G A 2: 65,367,016 (GRCm39) A2V probably damaging Het
Slc25a54 T C 3: 108,993,046 (GRCm39) probably benign Het
Smad9 C A 3: 54,696,636 (GRCm39) Q234K probably benign Het
Tie1 T C 4: 118,330,025 (GRCm39) Y1066C probably damaging Het
Traf1 T C 2: 34,838,484 (GRCm39) E118G probably benign Het
Ttc21b T C 2: 66,068,192 (GRCm39) D278G possibly damaging Het
Uaca C A 9: 60,761,600 (GRCm39) T204K probably damaging Het
Utrn A T 10: 12,401,096 (GRCm39) Y154N probably benign Het
Virma A G 4: 11,518,984 (GRCm39) T694A probably benign Het
Vmn2r50 T C 7: 9,779,929 (GRCm39) D500G probably damaging Het
Vmn2r59 T A 7: 41,693,253 (GRCm39) H449L probably benign Het
Other mutations in Polr2g
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6073:Polr2g UTSW 19 8,774,673 (GRCm39) missense probably damaging 0.99
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
Posted On 2016-08-02