Incidental Mutation 'R5817:Polr2f'
ID 449127
Institutional Source Beutler Lab
Gene Symbol Polr2f
Ensembl Gene ENSMUSG00000033020
Gene Name polymerase (RNA) II (DNA directed) polypeptide F
Synonyms RNA Pol II, 1810060D16Rik
MMRRC Submission 043397-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5817 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 79025525-79035974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79035869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 110 (I110T)
Ref Sequence ENSEMBL: ENSMUSP00000043566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040019] [ENSMUST00000040077] [ENSMUST00000229973] [ENSMUST00000230261] [ENSMUST00000230271] [ENSMUST00000230532]
AlphaFold P61219
Predicted Effect probably benign
Transcript: ENSMUST00000040019
SMART Domains Protein: ENSMUSP00000039466
Gene: ENSMUSG00000033006

DomainStartEndE-ValueType
Pfam:Sox_N 12 93 1.8e-31 PFAM
HMG 103 173 8.16e-27 SMART
low complexity region 183 205 N/A INTRINSIC
low complexity region 238 245 N/A INTRINSIC
low complexity region 310 332 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000040077
AA Change: I110T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043566
Gene: ENSMUSG00000033020
AA Change: I110T

DomainStartEndE-ValueType
low complexity region 3 37 N/A INTRINSIC
Pfam:RNA_pol_Rpb6 51 104 2.7e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229762
Predicted Effect probably benign
Transcript: ENSMUST00000229973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229978
Predicted Effect probably benign
Transcript: ENSMUST00000230261
Predicted Effect possibly damaging
Transcript: ENSMUST00000230271
AA Change: I125T

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000230532
Meta Mutation Damage Score 0.2748 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A G 4: 144,349,497 (GRCm39) I251M probably benign Het
Abcf3 T C 16: 20,367,833 (GRCm39) V63A possibly damaging Het
Agpat4 C T 17: 12,434,097 (GRCm39) probably benign Het
Ahcyl2 G A 6: 29,890,720 (GRCm39) V292M probably damaging Het
Ahnak2 A T 12: 112,740,437 (GRCm39) F406I probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgef5 G A 6: 43,252,038 (GRCm39) D930N probably benign Het
Cc2d2a G A 5: 43,869,760 (GRCm39) R887Q probably damaging Het
Ceacam18 A G 7: 43,291,265 (GRCm39) T236A probably benign Het
Chst15 A T 7: 131,870,873 (GRCm39) Y221N probably damaging Het
Chst15 G A 7: 131,870,876 (GRCm39) L220F probably damaging Het
Cntn2 G A 1: 132,446,486 (GRCm39) T784I probably benign Het
D630003M21Rik A G 2: 158,038,413 (GRCm39) L1011P probably damaging Het
Dync2h1 T A 9: 6,996,905 (GRCm39) D3894V probably damaging Het
Eif1ad19 G T 12: 87,740,201 (GRCm39) D119E probably benign Het
Fam13b T C 18: 34,590,850 (GRCm39) M443V possibly damaging Het
Fam20a T A 11: 109,564,244 (GRCm39) Q503L possibly damaging Het
Ftdc2 T C 16: 58,457,156 (GRCm39) I89V probably benign Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Gm5454 T A 13: 103,493,140 (GRCm39) noncoding transcript Het
Gm5581 A G 6: 131,144,132 (GRCm39) noncoding transcript Het
Gm6619 A G 6: 131,463,400 (GRCm39) I6V unknown Het
Gmcl1 A G 6: 86,691,230 (GRCm39) M255T probably damaging Het
Golm2 T A 2: 121,736,525 (GRCm39) S231T probably benign Het
Gprc5c T A 11: 114,754,450 (GRCm39) C42* probably null Het
Hmcn1 T A 1: 150,613,275 (GRCm39) E1384V possibly damaging Het
Il6 A G 5: 30,223,006 (GRCm39) I91V probably benign Het
Kmt2d A T 15: 98,760,244 (GRCm39) S1005T unknown Het
Map1a A T 2: 121,129,391 (GRCm39) H143L possibly damaging Het
Mical2 A T 7: 111,922,866 (GRCm39) T624S probably benign Het
Msh3 A T 13: 92,422,508 (GRCm39) N549K possibly damaging Het
Ncr1 T A 7: 4,343,894 (GRCm39) I164N possibly damaging Het
Or10ak11 T G 4: 118,687,296 (GRCm39) T115P probably damaging Het
Or51a5 A T 7: 102,771,115 (GRCm39) M292K possibly damaging Het
Or52m1 A G 7: 102,289,585 (GRCm39) N44S probably damaging Het
Or8d2b A G 9: 38,788,673 (GRCm39) D67G probably damaging Het
Palmd T C 3: 116,712,272 (GRCm39) I541M probably benign Het
Pcsk7 A T 9: 45,837,331 (GRCm39) M552L probably benign Het
Plekhh2 A G 17: 84,879,154 (GRCm39) E626G possibly damaging Het
Pole G A 5: 110,460,838 (GRCm39) D1176N probably damaging Het
Pomt1 A T 2: 32,138,691 (GRCm39) I436F probably damaging Het
Prag1 A C 8: 36,570,857 (GRCm39) Q480P probably damaging Het
Qars1 C T 9: 108,387,441 (GRCm39) probably benign Het
Ralgapa2 G A 2: 146,175,406 (GRCm39) S1797L probably damaging Het
Rbm26 T C 14: 105,366,039 (GRCm39) T832A probably damaging Het
Rnf169 A G 7: 99,574,976 (GRCm39) S540P probably benign Het
Serpini1 T A 3: 75,520,631 (GRCm39) M76K probably benign Het
Shq1 A G 6: 100,550,681 (GRCm39) L419S probably damaging Het
Slc25a17 G A 15: 81,211,261 (GRCm39) T225M probably damaging Het
Slc6a5 C A 7: 49,606,239 (GRCm39) L716I probably benign Het
Smc1b A G 15: 84,951,984 (GRCm39) V1149A probably damaging Het
Trappc1 A T 11: 69,215,060 (GRCm39) Q26L possibly damaging Het
Trpm2 C A 10: 77,801,814 (GRCm39) G84W probably damaging Het
Ttn G A 2: 76,573,010 (GRCm39) T24215M probably damaging Het
Ubn2 C A 6: 38,456,088 (GRCm39) T337K probably damaging Het
Ubr4 A G 4: 139,196,158 (GRCm39) K1265E probably damaging Het
Vmn1r214 T G 13: 23,219,491 (GRCm39) I328M probably damaging Het
Xcr1 C T 9: 123,684,922 (GRCm39) C280Y possibly damaging Het
Zc3h13 A G 14: 75,565,572 (GRCm39) E895G probably damaging Het
Other mutations in Polr2f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Polr2f APN 15 79,030,329 (GRCm39) missense probably damaging 1.00
R1727:Polr2f UTSW 15 79,028,805 (GRCm39) unclassified probably benign
R3120:Polr2f UTSW 15 79,028,788 (GRCm39) splice site probably null
R4724:Polr2f UTSW 15 79,030,269 (GRCm39) missense probably benign 0.01
R5050:Polr2f UTSW 15 79,028,862 (GRCm39) unclassified probably benign
R5139:Polr2f UTSW 15 79,035,858 (GRCm39) missense possibly damaging 0.53
R5768:Polr2f UTSW 15 79,035,845 (GRCm39) missense probably damaging 1.00
R6313:Polr2f UTSW 15 79,035,573 (GRCm39) missense probably damaging 1.00
R7494:Polr2f UTSW 15 79,028,865 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGGCTCATTCATGGTCAGCC -3'
(R):5'- CCTTAGAAAGAGCTAACAGTCACAG -3'

Sequencing Primer
(F):5'- ATTCATGGTCAGCCCCTGG -3'
(R):5'- GGGCCACCTTGATGTATGC -3'
Posted On 2016-12-20