|Institutional Source||Beutler Lab|
|Gene Name||fatty acid binding protein 2, intestinal|
|Synonyms||Fabpi, Fabpi, I-FABP|
|Is this an essential gene?||Probably non essential (E-score: 0.132)|
|Stock #||R8190 (G1)|
|Chromosomal Location||122895072-122899506 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 122896770 bp|
|Amino Acid Change||Histidine to Leucine at position 34 (H34L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023820 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023820]|
|Predicted Effect||probably benign
AA Change: H34L
PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: H34L
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene is part of the fatty acid binding protein family (FABP). FABPs are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands and participate in fatty acid uptake, transport, and metabolism. This protein functions within enterocytes, possibly to sense lipids as part of energy homeostasis. In humans polymorphisms are associated with increased fat oxidation and insulin resistance. In mice deficiency of this gene alters body weight in a gender-specific manner and causes hyperinsulinemia. [provided by RefSeq, Jan 2013]
PHENOTYPE: Male mutant mice exhibit increased body weight, hyperinsulinemia, increased leptin levels on a high fat diet and have elevated circulating levels of triglycerides. Female mutant mice exhibit a decreased body weight on a high fat diet compared to controls. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fabp2||
(F):5'- AGCATCACGACACTATTTGCT -3'
(R):5'- AAAAGTCAAGAATGCACTGCTT -3'
(F):5'- AGCATCACGACACTATTTGCTCTTTC -3'
(R):5'- TGTTCATTCAGAGATGAGGCACC -3'