Incidental Mutation 'IGL01607:Polr2e'
ID 278599
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr2e
Ensembl Gene ENSMUSG00000004667
Gene Name polymerase (RNA) II (DNA directed) polypeptide E
Synonyms RPB5, XAP4, 25kDa
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # IGL01607
Quality Score
Status
Chromosome 10
Chromosomal Location 79871787-79875493 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 79875467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 3 (D3Y)
Ref Sequence ENSEMBL: ENSMUSP00000004786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004786]
AlphaFold Q80UW8
Predicted Effect probably damaging
Transcript: ENSMUST00000004786
AA Change: D3Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004786
Gene: ENSMUSG00000004667
AA Change: D3Y

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpb5_N 4 94 3.2e-38 PFAM
Pfam:RNA_pol_Rpb5_C 137 209 6.7e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143438
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152843
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 fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,243,823 (GRCm39) K556E possibly damaging Het
Adgre4 A C 17: 56,101,748 (GRCm39) probably benign Het
Ajap1 C T 4: 153,516,736 (GRCm39) G202S probably damaging Het
Catsperb G T 12: 101,446,985 (GRCm39) probably benign Het
Ccdc178 T A 18: 22,200,778 (GRCm39) D393V probably benign Het
Cfap74 A G 4: 155,503,443 (GRCm39) T95A possibly damaging Het
Dis3l2 A G 1: 86,673,209 (GRCm39) T67A probably benign Het
Dnaja3 T C 16: 4,511,259 (GRCm39) F205L probably damaging Het
Dsc1 C T 18: 20,222,720 (GRCm39) C584Y probably damaging Het
Duox2 C A 2: 122,122,800 (GRCm39) V545L probably benign Het
Etaa1 A G 11: 17,903,637 (GRCm39) L53P probably benign Het
Gm14184 C T 11: 99,590,490 (GRCm39) C4Y unknown Het
Inpp4b C T 8: 82,737,292 (GRCm39) A563V probably benign Het
Kcnc3 A G 7: 44,240,728 (GRCm39) D140G probably damaging Het
Ly6a A T 15: 74,867,262 (GRCm39) M85K probably benign Het
Map4k2 C T 19: 6,395,623 (GRCm39) probably null Het
Mttp T C 3: 137,810,459 (GRCm39) Y652C probably damaging Het
Neu1 A T 17: 35,153,692 (GRCm39) N372I probably benign Het
Nuak2 G A 1: 132,255,878 (GRCm39) V184I probably damaging Het
Phf11a T C 14: 59,524,950 (GRCm39) I85V probably damaging Het
Ralb A G 1: 119,411,279 (GRCm39) V20A probably damaging Het
Rln1 A T 19: 29,309,260 (GRCm39) V173D probably benign Het
Stk38l T A 6: 146,673,152 (GRCm39) C304S probably damaging Het
Stk38l T C 6: 146,673,725 (GRCm39) probably benign Het
Tjp1 G T 7: 64,985,926 (GRCm39) D288E possibly damaging Het
Trpm3 A G 19: 22,964,491 (GRCm39) I1319V probably benign Het
Zic2 T G 14: 122,716,294 (GRCm39) probably benign Het
Other mutations in Polr2e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Polr2e APN 10 79,872,681 (GRCm39) splice site probably benign
IGL01574:Polr2e APN 10 79,875,467 (GRCm39) missense probably damaging 1.00
R0157:Polr2e UTSW 10 79,872,615 (GRCm39) missense probably damaging 1.00
R1953:Polr2e UTSW 10 79,874,388 (GRCm39) missense probably benign
R3891:Polr2e UTSW 10 79,873,213 (GRCm39) missense probably benign 0.00
R5305:Polr2e UTSW 10 79,873,897 (GRCm39) intron probably benign
R7599:Polr2e UTSW 10 79,874,404 (GRCm39) missense possibly damaging 0.60
R8750:Polr2e UTSW 10 79,875,424 (GRCm39) missense probably benign 0.07
R9526:Polr2e UTSW 10 79,872,792 (GRCm39) missense probably benign 0.30
Posted On 2015-04-16