Incidental Mutation 'IGL01731:Fabp4'

• ID: 105510
• Institutional Source: Australian Phenomics Network
• Gene Symbol: Fabp4
• Ensembl Gene: ENSMUSG00000062515
• Gene Name: fatty acid binding protein 4, adipocyte
• Synonyms: ALBP/Ap2, Ap2, 422/aP2, Lbpl
• Essential gene?: Non essential (E-score: 0.000)
• Stock #: IGL01731
• Chromosome: 3
• Chromosomal Location: 10269406-10273653 bp(-) (GRCm39)
• Type of Mutation: splice site
• DNA Base Change (assembly): T to C at 10270293 bp (GRCm39)
• Zygosity: Heterozygous
• Ref Sequence: ENSEMBL: ENSMUSP00000029041
• Gene Model: predicted gene model for transcript(s): [ENSMUST00000029041]
• AlphaFold: P04117
• PDB Structure: PHENANTHROLINE MODIFIED MURINE ADIPOCYTE LIPID BINDING PROTEIN [X-RAY DIFFRACTION] ; PYRIDOXAMINE MODIFIED MURINE ADIPOCYTE LIPID BINDING PROTEIN [X-RAY DIFFRACTION] ; C1G/V32D/F57H MUTANT OF MURINE ADIPOCYTE LIPID BINDING PROTEIN AT PH 4.5 [X-RAY DIFFRACTION] ; V32D/F57H MUTANT OF MURINE ADIPOCYTE LIPID BINDING PROTEIN [X-RAY DIFFRACTION] ; ADIPOCYTE LIPID BINDING PROTEIN COMPLEXED WITH ARACHIDONIC ACID: X-RAY CRYSTALLOGRAPHIC AND TITRATION CALORIMETRY STUDIES [X-RAY DIFFRACTION] ; CRYSTAL STRUCTURE OF RECOMBINANT MURINE ADIPOCYTE LIPID-BINDING PROTEIN [X-RAY DIFFRACTION] ; Toward changing specificity: adipocyte lipid binding protein mutant, oleic acid bound form [X-RAY DIFFRACTION] ; Toward changing specificity: adipocyte lipid binding protein mutant, apo form [X-RAY DIFFRACTION] ; THE ADIPOCYTE LIPID-BINDING PROTEIN AT 1.6 ANGSTROMS RESOLUTION: CRYSTAL STRUCTURES OF THE APOPROTEIN AND WITH BOUND SATURATED AND UNSATURATED FATTY ACIDS [X-RAY DIFFRACTION] ; X-RAY CRYSTALLOGRAPHIC STRUCTURES OF ADIPOCYTE LIPID BINDING PROTEIN COMPLEXED WITH PALMITATE AND HEXADECANESULFONIC ACID. PROPERTIES OF CAVITY BINDING SITES. [X-RAY DIFFRACTION] ; >> 9 additional structures at PDB <<
• Predicted Effect: probably benign; Transcript: ENSMUST00000029041
• SMART Domains: Protein: ENSMUSP00000029041; Gene: ENSMUSG00000062515

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	6	132	4e-29	PFAM

• Predicted Effect: noncoding transcript; Transcript: ENSMUST00000191757
• MGI Phenotype: FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FABP4 encodes the fatty acid binding protein found in adipocytes. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008] ; PHENOTYPE: Homozygotes for a targeted null mutation exhibit susceptibility to diet-induced obesity, attenuated dibutyryl cAMP-induced adipocyte release of glycerol and free fatty acid, and reduced acute insulin secretion in response to beta-adrenergic stimulation. [provided by MGI curators]
• Posted On: 2014-01-21