Incidental Mutation 'R8282:Fabp4'

• ID: 638237
• Institutional Source: Beutler Lab
• Gene Symbol: Fabp4
• Ensembl Gene: ENSMUSG00000062515
• Gene Name: fatty acid binding protein 4, adipocyte
• Synonyms: ALBP/Ap2, Ap2, 422/aP2, Lbpl
• MMRRC Submission: 067705-MU
• Essential gene?: Non essential (E-score: 0.000)
• Stock #: R8282 (G1)
• Quality Score: 225.009
• Status: Validated
• Chromosome: 3
• Chromosomal Location: 10269406-10273653 bp(-) (GRCm39)
• Type of Mutation: missense
• DNA Base Change (assembly): T to A at 10270342 bp (GRCm39)
• Zygosity: Heterozygous
• Amino Acid Change: Threonine to Serine at position 103 (T103S)
• 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; AA Change: T103S; PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
• SMART Domains: Protein: ENSMUSP00000029041; Gene: ENSMUSG00000062515; AA Change: T103S

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

• Coding Region Coverage:
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
• Validation Efficiency: 98% (57/58)
• 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: 2020-07-28

Predicted Primers

PCR Primer
(F):5'- TATGGGAGGATAGAGTGCACCTC -3'
(R):5'- TTGTCCTGTAGAGTTACTGAGAAC -3'

Sequencing Primer
(F):5'- GTGAGAGAACCAGGATTCAACCCTC -3'
(R):5'- GAGAACATCAGAATAGTCCTTTGG -3'