Incidental Mutation 'IGL02474:Polr2g'
ID 294878
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 # IGL02474
Quality Score
Status
Chromosome 19
Chromosomal Location 8770493-8775921 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) C to A at 8775820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000093980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096261] [ENSMUST00000172175]
AlphaFold P62488
Predicted Effect probably null
Transcript: ENSMUST00000096261
SMART Domains Protein: ENSMUSP00000093980
Gene: ENSMUSG00000071662

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,038,491 (GRCm39) E283G probably damaging Het
Ahnak A G 19: 8,982,297 (GRCm39) I1194V probably benign Het
Aqr T A 2: 113,943,127 (GRCm39) N1149Y probably damaging Het
Bms1 T C 6: 118,393,480 (GRCm39) I131V probably benign Het
Cacna1s A C 1: 136,046,118 (GRCm39) T1461P probably benign Het
Chrnb3 T C 8: 27,883,397 (GRCm39) S113P probably damaging Het
Col1a2 C T 6: 4,516,398 (GRCm39) R171C unknown Het
Cramp1 A G 17: 25,204,024 (GRCm39) V318A probably damaging Het
Csf2ra A G 19: 61,214,975 (GRCm39) V163A possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ctnnd2 A G 15: 30,669,708 (GRCm39) D439G possibly damaging Het
Dnah11 T A 12: 117,991,180 (GRCm39) probably null Het
Dyrk4 C A 6: 126,857,194 (GRCm39) C495F probably damaging Het
Gabra6 A G 11: 42,198,244 (GRCm39) V402A probably benign Het
Gba2 T C 4: 43,568,538 (GRCm39) M643V possibly damaging Het
Gbp9 A T 5: 105,242,433 (GRCm39) probably benign Het
Ginm1 A G 10: 7,653,532 (GRCm39) probably benign Het
Git1 T A 11: 77,394,217 (GRCm39) D282E probably damaging Het
Gm5799 T C 14: 43,782,086 (GRCm39) I86T probably damaging Het
Gm9894 T C 13: 67,913,213 (GRCm39) noncoding transcript Het
Gng12 A G 6: 66,992,745 (GRCm39) K4R probably benign Het
Hnrnpul1 A T 7: 25,426,182 (GRCm39) D556E probably benign Het
Kat6b T A 14: 21,719,107 (GRCm39) L1153Q possibly damaging Het
Ly75 A T 2: 60,213,526 (GRCm39) L17Q probably null Het
Mc5r T C 18: 68,471,910 (GRCm39) F90L probably damaging Het
Or1x2 C A 11: 50,918,192 (GRCm39) A121D probably damaging Het
Or5k8 A T 16: 58,645,019 (GRCm39) S18T probably benign Het
Or6b13 T C 7: 139,782,500 (GRCm39) Y61C probably damaging Het
Or7c70 A T 10: 78,682,897 (GRCm39) M284K probably damaging Het
Or8b9 A T 9: 37,766,656 (GRCm39) I181L probably benign Het
Pi4ka A T 16: 17,143,293 (GRCm39) Y6N probably damaging Het
Psme3 A G 11: 101,208,480 (GRCm39) Q82R probably benign Het
Rab11a G T 9: 64,633,929 (GRCm39) T17K possibly damaging Het
Rbm12 A T 2: 155,940,017 (GRCm39) L85Q probably damaging Het
Skap1 A T 11: 96,599,512 (GRCm39) Y188F probably damaging Het
Tmprss6 A T 15: 78,326,536 (GRCm39) F34I probably damaging Het
Trip12 A C 1: 84,771,854 (GRCm39) I98S probably benign Het
Ttn T C 2: 76,708,532 (GRCm39) probably benign Het
Ube2t A T 1: 134,899,079 (GRCm39) K21* probably null Het
Vmn1r216 T C 13: 23,283,647 (GRCm39) V110A possibly damaging Het
Vmn2r109 A T 17: 20,761,150 (GRCm39) F736I probably benign Het
Vps13c A G 9: 67,845,158 (GRCm39) T2081A probably benign Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Polr2g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Polr2g APN 19 8,771,740 (GRCm39) splice site probably benign
IGL03346:Polr2g APN 19 8,775,669 (GRCm39) missense probably damaging 1.00
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 2015-04-16