Incidental Mutation 'IGL01286:Fbxo2'
ID 72722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo2
Ensembl Gene ENSMUSG00000041556
Gene Name F-box protein 2
Synonyms FBX2, Fbs1, NFB42, Prpl4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # IGL01286
Quality Score
Status
Chromosome 4
Chromosomal Location 148245078-148250881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148250163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 231 (N231S)
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: N231S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000037377
Gene: ENSMUSG00000041556
AA Change: N231S

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
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 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,629,578 (GRCm39) C214S possibly damaging Het
Ankrd26 A T 6: 118,536,068 (GRCm39) V122E probably damaging Het
Blnk T C 19: 40,922,950 (GRCm39) K389R probably benign Het
Cdcp3 A T 7: 130,848,432 (GRCm39) N862I probably damaging Het
Cdh11 T A 8: 103,391,261 (GRCm39) Q325L probably damaging Het
Cep112 T C 11: 108,750,235 (GRCm39) probably null Het
Cmtr2 T A 8: 110,949,484 (GRCm39) I598N possibly damaging Het
Col1a2 A C 6: 4,533,891 (GRCm39) E857D unknown Het
Col2a1 G A 15: 97,892,759 (GRCm39) P237L unknown Het
Commd2 G A 3: 57,558,143 (GRCm39) T66M probably benign Het
Cyp2c50 A T 19: 40,080,728 (GRCm39) K241N probably benign Het
Grm5 T C 7: 87,251,773 (GRCm39) S8P probably benign Het
Ip6k1 A G 9: 107,923,082 (GRCm39) T405A probably benign Het
Kel G T 6: 41,665,051 (GRCm39) probably null Het
Lin54 T C 5: 100,633,466 (GRCm39) T73A probably benign Het
Nek1 T A 8: 61,577,250 (GRCm39) V1052D possibly damaging Het
Or4p22 T A 2: 88,317,592 (GRCm39) I172K probably damaging Het
Or6c6 T A 10: 129,186,519 (GRCm39) L29H probably damaging Het
Pcid2 T C 8: 13,140,660 (GRCm39) D155G probably damaging Het
Ptchd1 T C X: 154,357,820 (GRCm39) T462A possibly damaging Het
Pxdn A G 12: 30,032,753 (GRCm39) E179G probably benign Het
Rfc2 T C 5: 134,618,243 (GRCm39) L82P probably damaging Het
Sh3rf2 T C 18: 42,272,676 (GRCm39) probably null Het
Sis A T 3: 72,848,358 (GRCm39) W639R probably damaging Het
Tbcd T C 11: 121,384,719 (GRCm39) probably null Het
Tert G A 13: 73,776,416 (GRCm39) R389H possibly damaging Het
Tns3 C T 11: 8,442,617 (GRCm39) S582N probably benign Het
Tssk2 C T 16: 17,716,822 (GRCm39) T75I probably benign Het
Txnl4a C T 18: 80,261,956 (GRCm39) T64I probably benign Het
Xpot T C 10: 121,438,243 (GRCm39) D782G probably benign Het
Other mutations in Fbxo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6715:Fbxo2 UTSW 4 148,250,226 (GRCm39) missense probably benign 0.00
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
Posted On 2013-10-07