Incidental Mutation 'R6715:Fbxo2'
ID 529285
Institutional Source Beutler Lab
Gene Symbol Fbxo2
Ensembl Gene ENSMUSG00000041556
Gene Name F-box protein 2
Synonyms FBX2, Fbs1, NFB42, Prpl4
MMRRC Submission 044833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R6715 (G1)
Quality Score 152.008
Status Validated
Chromosome 4
Chromosomal Location 148245078-148250881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 148250226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 252 (M252K)
Ref Sequence ENSEMBL: ENSMUSP00000037377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047951]
AlphaFold Q80UW2
PDB Structure Structural basis of sugar-recognizing ubiquitin ligase [X-RAY DIFFRACTION]
Structural basis of sugar-recognizing ubiquitin ligase [X-RAY DIFFRACTION]
Structural basis for selection of glycosylated substrate by SCFFbs1 ubiquitin ligase [X-RAY DIFFRACTION]
Structural basis for selection of glycosylated substrate by SCFFbs1 ubiquitin ligase [X-RAY DIFFRACTION]
Structural basis for selection of glycosylated substrate by SCFFbs1 ubiquitin ligase [X-RAY DIFFRACTION]
Crystal Structure of the Sugar Recognizing SCF Ubiquitin Ligase at 1.7 Resolution [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000047951
AA Change: M252K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037377
Gene: ENSMUSG00000041556
AA Change: M252K

DomainStartEndE-ValueType
Pfam:F-box 50 97 3.8e-9 PFAM
Pfam:F-box-like 51 97 9.3e-8 PFAM
FBA 114 297 3.81e-104 SMART
Meta Mutation Damage Score 0.1412 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is highly similar to the rat NFB42 (neural F Box 42 kDa) protein which is enriched in the nervous system and may play a role in maintaining neurons in a postmitotic state. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted mutation are behaviorally normal but display accelerated, age-related hearing loss associated with cochlear degeneration. Cellular degeneration begins at 2 months in the supporting cells of the organ of Corti and progresses to cochlear hair cells and the spiral ganglion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 G A 12: 88,425,850 (GRCm39) R426H probably damaging Het
Arl2 G A 19: 6,187,555 (GRCm39) R98C probably damaging Het
Atm A G 9: 53,442,948 (GRCm39) I105T probably damaging Het
Cnnm2 G A 19: 46,842,412 (GRCm39) G565E probably damaging Het
Ddx60 G A 8: 62,436,924 (GRCm39) G958D probably benign Het
Filip1 C A 9: 79,726,040 (GRCm39) A860S probably benign Het
Gm11992 C A 11: 9,011,214 (GRCm39) S218R probably damaging Het
Gnb3 A G 6: 124,814,691 (GRCm39) L69P possibly damaging Het
Gpr18 T G 14: 122,149,389 (GRCm39) H212P possibly damaging Het
Iqcb1 T C 16: 36,655,991 (GRCm39) F126S probably damaging Het
Katnip C T 7: 125,361,001 (GRCm39) Q104* probably null Het
Kcnh1 A G 1: 192,019,949 (GRCm39) D425G probably benign Het
Kdm5b T A 1: 134,536,799 (GRCm39) probably null Het
Mcm3ap C T 10: 76,325,366 (GRCm39) T989M possibly damaging Het
Mtor T C 4: 148,623,004 (GRCm39) C1999R probably benign Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Myof A T 19: 37,956,794 (GRCm39) D508E probably benign Het
Or52b2 A T 7: 104,986,539 (GRCm39) I128N probably damaging Het
Or56b2j G A 7: 104,353,163 (GRCm39) V130M possibly damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Osbpl7 A G 11: 96,945,425 (GRCm39) H266R probably damaging Het
Pear1 T C 3: 87,666,424 (GRCm39) Y93C probably damaging Het
Pgr A G 9: 8,965,000 (GRCm39) H881R possibly damaging Het
Rfx1 A G 8: 84,822,444 (GRCm39) E914G possibly damaging Het
Samm50 T C 15: 84,095,259 (GRCm39) I415T probably benign Het
Snx7 T C 3: 117,575,985 (GRCm39) D434G possibly damaging Het
Susd4 G A 1: 182,719,602 (GRCm39) V406M probably benign Het
Syt15 G T 14: 33,944,819 (GRCm39) G122V probably damaging Het
Tlr5 A G 1: 182,800,224 (GRCm39) probably benign Het
Ttc6 T C 12: 57,721,556 (GRCm39) probably null Het
Vmn1r211 C A 13: 23,035,949 (GRCm39) M239I probably benign Het
Vps37a G T 8: 40,993,902 (GRCm39) probably null Het
Other mutations in Fbxo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Fbxo2 APN 4 148,250,163 (GRCm39) missense probably benign 0.01
IGL01690:Fbxo2 APN 4 148,249,581 (GRCm39) critical splice donor site probably null
R0085:Fbxo2 UTSW 4 148,249,367 (GRCm39) splice site probably null
R1083:Fbxo2 UTSW 4 148,250,234 (GRCm39) splice site probably null
R2879:Fbxo2 UTSW 4 148,250,468 (GRCm39) missense probably damaging 1.00
R4583:Fbxo2 UTSW 4 148,249,356 (GRCm39) missense possibly damaging 0.54
R5108:Fbxo2 UTSW 4 148,250,486 (GRCm39) missense probably damaging 1.00
R6529:Fbxo2 UTSW 4 148,249,511 (GRCm39) missense probably damaging 1.00
R7772:Fbxo2 UTSW 4 148,248,783 (GRCm39) missense probably damaging 1.00
R9147:Fbxo2 UTSW 4 148,250,166 (GRCm39) missense probably damaging 0.96
R9148:Fbxo2 UTSW 4 148,250,166 (GRCm39) missense probably damaging 0.96
R9176:Fbxo2 UTSW 4 148,250,147 (GRCm39) missense probably damaging 1.00
R9422:Fbxo2 UTSW 4 148,248,616 (GRCm39) missense unknown
R9722:Fbxo2 UTSW 4 148,248,883 (GRCm39) missense probably damaging 1.00
Z1177:Fbxo2 UTSW 4 148,249,519 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- AGGCAGAAGAGATCTCTGGC -3'
(R):5'- CCGTAGTCGATGAAGGTGTG -3'

Sequencing Primer
(F):5'- ATCTCTGGCAGAGTGAGGCTC -3'
(R):5'- TGAAAGGATAGCACGTCAGCCTC -3'
Posted On 2018-07-24