Incidental Mutation 'R0085:Fbxo2'
ID 19845
Institutional Source Beutler Lab
Gene Symbol Fbxo2
Ensembl Gene ENSMUSG00000041556
Gene Name F-box protein 2
Synonyms FBX2, Fbs1, NFB42, Prpl4
MMRRC Submission 038372-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R0085 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 148245078-148250881 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 148249367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047951] [ENSMUST00000057907] [ENSMUST00000129253] [ENSMUST00000173352]
AlphaFold Q80UW2
Predicted Effect probably damaging
Transcript: ENSMUST00000047951
AA Change: F163S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037377
Gene: ENSMUSG00000041556
AA Change: F163S

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
Predicted Effect probably null
Transcript: ENSMUST00000057907
SMART Domains Protein: ENSMUSP00000054022
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 252 2.24e-110 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129253
SMART Domains Protein: ENSMUSP00000117013
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 213 1.15e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000173352
SMART Domains Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 62 103 1.37e-2 SMART
FBA 121 254 3.86e-50 SMART
Meta Mutation Damage Score 0.9027 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
Validation Efficiency 95% (71/75)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 A G 5: 121,742,357 (GRCm39) I417T possibly damaging Het
Adcy9 T C 16: 4,106,088 (GRCm39) T1009A probably benign Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Baat T C 4: 49,490,425 (GRCm39) probably benign Het
Bpi T A 2: 158,115,072 (GRCm39) L311* probably null Het
Brd2 A C 17: 34,332,233 (GRCm39) F294L probably damaging Het
Carmil1 T A 13: 24,209,850 (GRCm39) E804D probably benign Het
Cd209g A T 8: 4,184,785 (GRCm39) probably benign Het
Cfi A G 3: 129,668,635 (GRCm39) I554V probably benign Het
Clvs2 G C 10: 33,498,542 (GRCm39) S129R possibly damaging Het
Dst T C 1: 34,268,268 (GRCm39) S2897P probably damaging Het
Efcab7 T C 4: 99,761,877 (GRCm39) probably benign Het
Fgfr2 C A 7: 129,797,993 (GRCm39) R400L probably damaging Het
Hsd17b14 T C 7: 45,205,834 (GRCm39) probably benign Het
Il23r T C 6: 67,463,206 (GRCm39) N96D probably damaging Het
Ints13 T A 6: 146,476,285 (GRCm39) probably benign Het
Khdc4 T A 3: 88,619,046 (GRCm39) S583R probably damaging Het
Lig1 A G 7: 13,041,495 (GRCm39) I776V possibly damaging Het
Madd T C 2: 90,993,083 (GRCm39) I997V probably benign Het
Mgat4b C T 11: 50,121,826 (GRCm39) H116Y possibly damaging Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Myo5b A C 18: 74,834,751 (GRCm39) D937A probably benign Het
Nox3 T C 17: 3,685,556 (GRCm39) N584S probably benign Het
Ogfr A G 2: 180,232,830 (GRCm39) probably null Het
Or11g25 T A 14: 50,723,791 (GRCm39) M292K probably benign Het
Or13p3 T C 4: 118,567,078 (GRCm39) V158A probably benign Het
Or8b1b T C 9: 38,375,958 (GRCm39) I207T probably benign Het
Osbpl6 G T 2: 76,423,758 (GRCm39) V728F probably benign Het
Picalm T A 7: 89,831,525 (GRCm39) S453T probably benign Het
Piezo1 A G 8: 123,228,354 (GRCm39) L310P probably damaging Het
Pitrm1 C T 13: 6,599,604 (GRCm39) probably benign Het
Pkd1 T C 17: 24,805,197 (GRCm39) F3250L probably damaging Het
Plekha4 C T 7: 45,193,373 (GRCm39) R376* probably null Het
Pnma8b A T 7: 16,679,474 (GRCm39) S153C unknown Het
Rp1l1 C T 14: 64,259,744 (GRCm39) R129W probably damaging Het
Ryr3 A G 2: 112,690,108 (GRCm39) V1147A probably damaging Het
Sema3d G A 5: 12,620,953 (GRCm39) V520I probably benign Het
Sgsm1 A G 5: 113,427,136 (GRCm39) probably benign Het
Slc13a2 A G 11: 78,297,694 (GRCm39) V58A probably damaging Het
Slc1a4 A G 11: 20,254,510 (GRCm39) probably benign Het
Slc4a10 G A 2: 62,074,690 (GRCm39) probably benign Het
Tab1 G T 15: 80,040,094 (GRCm39) A305S probably benign Het
Tmem30a T A 9: 79,678,576 (GRCm39) T327S probably benign Het
Tpr A C 1: 150,293,164 (GRCm39) E863A possibly damaging Het
Upk3bl A G 5: 136,088,969 (GRCm39) N161D probably benign Het
Ush1c T A 7: 45,874,979 (GRCm39) I131F probably benign Het
Wdfy4 C A 14: 32,800,200 (GRCm39) R1975S possibly damaging Het
Zbtb18 C T 1: 177,275,501 (GRCm39) A287V probably benign Het
Zfp712 T C 13: 67,189,256 (GRCm39) T424A probably benign Het
Zfp791 G T 8: 85,838,862 (GRCm39) Y56* 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
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
Predicted Primers PCR Primer
(F):5'- CTACCTCTCACTGTCAGGGCAAAAG -3'
(R):5'- CAATAGCTGCTCACCAGTCCTTCAC -3'

Sequencing Primer
(F):5'- CTGTCAGGGCAAAAGTCAGC -3'
(R):5'- AGTCCTTCACCACGATGGC -3'
Posted On 2013-04-11