Incidental Mutation 'R3894:Fbxl2'
ID310455
Institutional Source Beutler Lab
Gene Symbol Fbxl2
Ensembl Gene ENSMUSG00000032507
Gene NameF-box and leucine-rich repeat protein 2
Synonyms2810423A21Rik, Fbl3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3894 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location113963637-114046191 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 114003193 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 51 (N51S)
Ref Sequence ENSEMBL: ENSMUSP00000114075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035090] [ENSMUST00000117537] [ENSMUST00000143180]
Predicted Effect probably damaging
Transcript: ENSMUST00000035090
AA Change: N51S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035090
Gene: ENSMUSG00000032507
AA Change: N51S

DomainStartEndE-ValueType
FBOX 15 55 1.18e-6 SMART
LRR 77 102 1.16e-1 SMART
LRR 103 128 5.21e-4 SMART
LRR 129 154 2.24e-3 SMART
LRR_CC 155 180 5.46e-7 SMART
LRR 181 206 7.05e-1 SMART
LRR 207 232 4.87e-4 SMART
LRR 233 258 1.5e-4 SMART
LRR 259 284 8.81e-2 SMART
LRR 285 310 2.05e-2 SMART
LRR_CC 311 336 6.37e-8 SMART
LRR 365 391 2.44e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117537
AA Change: N51S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114075
Gene: ENSMUSG00000032507
AA Change: N51S

DomainStartEndE-ValueType
FBOX 15 55 1.18e-6 SMART
LRR 77 102 1.16e-1 SMART
LRR 103 128 5.21e-4 SMART
LRR 129 154 2.24e-3 SMART
LRR_CC 155 180 5.46e-7 SMART
LRR 181 206 7.05e-1 SMART
LRR 207 232 4.87e-4 SMART
LRR 233 258 1.5e-4 SMART
LRR 259 284 8.81e-2 SMART
LRR 285 310 2.05e-2 SMART
LRR_CC 311 336 6.37e-8 SMART
LRR 365 391 2.44e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141832
Predicted Effect probably benign
Transcript: ENSMUST00000143180
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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 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 Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1s1 A G 7: 44,853,939 D180G probably damaging Het
Aldh1a7 A T 19: 20,696,398 Y457* probably null Het
Alpk3 C T 7: 81,078,390 P423S possibly damaging Het
Aox2 A T 1: 58,334,678 probably null Het
Crebbp T C 16: 4,096,102 T1316A probably benign Het
Cul3 C A 1: 80,283,690 V273F probably damaging Het
Dnah1 G T 14: 31,307,028 R582S probably benign Het
Gapvd1 T C 2: 34,728,476 D295G probably benign Het
Gdf7 A G 12: 8,298,845 S151P unknown Het
Gm10277 T C 11: 77,786,001 probably benign Het
Hdac4 T C 1: 91,970,968 E688G possibly damaging Het
Htr1d A G 4: 136,443,237 E259G probably benign Het
Ifi204 T C 1: 173,749,208 H609R possibly damaging Het
Ift80 T C 3: 68,917,999 D541G probably damaging Het
Il18r1 A T 1: 40,474,874 H80L possibly damaging Het
Lrp4 G A 2: 91,473,949 G158S probably damaging Het
Mesd T A 7: 83,897,785 L152H probably damaging Het
Morf4l1 A T 9: 90,094,448 F276I possibly damaging Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
Mut G A 17: 40,955,139 C531Y probably damaging Het
Myo15 A G 11: 60,504,319 T2480A probably benign Het
Olfr1284 C A 2: 111,379,637 F212L probably benign Het
Olfr1317 T C 2: 112,142,014 I23T probably benign Het
Olfr1387 G A 11: 49,459,939 G87R possibly damaging Het
Olfr180 A G 16: 58,916,339 F101L probably benign Het
Olfr437 A T 6: 43,167,258 I67F probably benign Het
Ovgp1 T C 3: 105,986,567 probably benign Het
Ovgp1 A G 3: 105,986,596 probably benign Het
Pcbp4 A T 9: 106,461,371 Q59L possibly damaging Het
Prg4 G C 1: 150,454,759 probably benign Het
Rad50 T A 11: 53,678,870 I905L probably benign Het
Rp1l1 T C 14: 64,029,307 S781P probably benign Het
Rps3 C T 7: 99,479,896 R173H probably benign Het
Rtn3 T A 19: 7,435,085 T86S probably damaging Het
Sdha A T 13: 74,334,391 S268T probably benign Het
Sgo2b A T 8: 63,928,733 V355E possibly damaging Het
Sh3glb2 T C 2: 30,355,288 T60A probably damaging Het
Slc26a3 A C 12: 31,464,720 Y513S probably damaging Het
Slc35b2 T C 17: 45,566,442 V165A probably benign Het
Slco3a1 A G 7: 74,284,613 W604R probably damaging Het
Tet2 A G 3: 133,469,477 S1370P possibly damaging Het
Tmtc4 A T 14: 122,921,319 probably null Het
Tsga13 A G 6: 30,912,263 V18A probably benign Het
Ugt2a3 T C 5: 87,329,590 T317A probably benign Het
Zcchc4 A T 5: 52,784,100 D79V probably damaging Het
Other mutations in Fbxl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Fbxl2 APN 9 113983979 splice site probably benign
IGL02165:Fbxl2 APN 9 114018031 missense probably benign 0.06
IGL02535:Fbxl2 APN 9 113979507 missense probably benign 0.25
R0145:Fbxl2 UTSW 9 113985325 missense probably damaging 1.00
R1668:Fbxl2 UTSW 9 113989146 missense probably benign 0.00
R1694:Fbxl2 UTSW 9 114003171 missense probably damaging 0.99
R1964:Fbxl2 UTSW 9 113989169 missense probably benign 0.00
R2993:Fbxl2 UTSW 9 113989416 missense possibly damaging 0.48
R4235:Fbxl2 UTSW 9 113989163 missense probably benign 0.03
R4342:Fbxl2 UTSW 9 113985306 missense probably benign
R5310:Fbxl2 UTSW 9 113986508 missense possibly damaging 0.78
R5509:Fbxl2 UTSW 9 113985347 splice site probably null
R5696:Fbxl2 UTSW 9 113986478 missense probably damaging 1.00
R6232:Fbxl2 UTSW 9 113986448 missense probably damaging 0.98
R6371:Fbxl2 UTSW 9 113989383 missense probably damaging 1.00
R6803:Fbxl2 UTSW 9 113984549 missense probably damaging 1.00
R7530:Fbxl2 UTSW 9 113989173 missense probably benign 0.01
Z1177:Fbxl2 UTSW 9 113989345 missense probably benign
Predicted Primers
Posted On2015-04-17