Incidental Mutation 'R5139:Polr2f'
ID 396367
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 042725-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5139 (G1)
Quality Score 198
Status Not validated
Chromosome 15
Chromosomal Location 79025525-79035974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 79035858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 106 (D106E)
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 possibly damaging
Transcript: ENSMUST00000040077
AA Change: D106E

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043566
Gene: ENSMUSG00000033020
AA Change: D106E

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 probably benign
Transcript: ENSMUST00000230271
AA Change: D121E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000230532
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,029,905 (GRCm39) L625P probably damaging Het
Agtpbp1 A G 13: 59,648,027 (GRCm39) S598P probably damaging Het
Ahnak A C 19: 8,982,019 (GRCm39) D1101A probably damaging Het
Aoah T C 13: 21,207,407 (GRCm39) V542A possibly damaging Het
Aox1 T C 1: 58,100,456 (GRCm39) S418P probably benign Het
Appl1 A G 14: 26,669,112 (GRCm39) I354T probably benign Het
BC035947 T C 1: 78,475,884 (GRCm39) E216G possibly damaging Het
Bnip3l A G 14: 67,237,064 (GRCm39) S63P probably damaging Het
Cckar T C 5: 53,860,265 (GRCm39) N188S probably benign Het
Ccl24 C T 5: 135,601,775 (GRCm39) A18T probably benign Het
Cmya5 A G 13: 93,232,569 (GRCm39) C840R probably benign Het
Copa C T 1: 171,948,896 (GRCm39) R1183W probably damaging Het
Dnah10 T C 5: 124,876,024 (GRCm39) V2621A probably damaging Het
Fryl A G 5: 73,248,061 (GRCm39) Y1019H probably damaging Het
Hira T C 16: 18,773,508 (GRCm39) Y943H probably damaging Het
Ighv3-8 T C 12: 114,285,994 (GRCm39) Y116C probably damaging Het
Igkv4-70 G A 6: 69,245,089 (GRCm39) T44I probably damaging Het
Lce3c G A 3: 92,852,778 (GRCm39) G80S unknown Het
Ldhb A T 6: 142,439,921 (GRCm39) N206K probably damaging Het
Mical1 T A 10: 41,354,411 (GRCm39) probably null Het
Myh2 T C 11: 67,070,174 (GRCm39) L402P probably damaging Het
Naa15 T A 3: 51,351,261 (GRCm39) L144I probably damaging Het
Nbea T A 3: 55,534,384 (GRCm39) I2918F possibly damaging Het
Or5w11 C A 2: 87,459,000 (GRCm39) H64Q probably benign Het
Pdcd11 C A 19: 47,095,554 (GRCm39) S625R probably benign Het
Pdlim7 A G 13: 55,654,869 (GRCm39) S214P probably damaging Het
Polg T C 7: 79,099,773 (GRCm39) D49G probably damaging Het
Ppp6r3 A C 19: 3,514,610 (GRCm39) N766K probably damaging Het
Prl8a1 T A 13: 27,758,049 (GRCm39) D220V probably damaging Het
Qrfprl A T 6: 65,433,203 (GRCm39) N341I probably damaging Het
Septin9 A G 11: 117,247,511 (GRCm39) K497E possibly damaging Het
Sfswap T G 5: 129,648,073 (GRCm39) M927R possibly damaging Het
Smad9 T G 3: 54,704,827 (GRCm39) W400G possibly damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Tcaf3 A G 6: 42,573,867 (GRCm39) V115A probably benign Het
Tesmin A G 19: 3,456,934 (GRCm39) I238V probably damaging Het
Trf C T 9: 103,100,133 (GRCm39) probably null Het
Trpc3 A T 3: 36,725,706 (GRCm39) M90K possibly damaging Het
Tshz3 C T 7: 36,470,450 (GRCm39) T813I probably benign Het
Tub T A 7: 108,610,309 (GRCm39) M1K probably null Het
Wdfy3 A T 5: 101,997,133 (GRCm39) probably null Het
Zfp853 T C 5: 143,274,570 (GRCm39) Q350R unknown 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
R5768:Polr2f UTSW 15 79,035,845 (GRCm39) missense probably damaging 1.00
R5817:Polr2f UTSW 15 79,035,869 (GRCm39) missense probably damaging 0.98
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'- TCTGGCTCATTCATGGTCAGC -3'
(R):5'- CCCTGGTGCCTTAGAAAGAG -3'

Sequencing Primer
(F):5'- ATTCATGGTCAGCCCCTGG -3'
(R):5'- CCTGGTGCCTTAGAAAGAGCTAAC -3'
Posted On 2016-06-21