Incidental Mutation 'IGL02326:Fabp2'
ID 288493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fabp2
Ensembl Gene ENSMUSG00000023057
Gene Name fatty acid binding protein 2, intestinal
Synonyms Fabpi, Fabpi, I-FABP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # IGL02326
Quality Score
Status
Chromosome 3
Chromosomal Location 122688721-122693155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 122692395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 96 (R96C)
Ref Sequence ENSEMBL: ENSMUSP00000023820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023820]
AlphaFold P55050
Predicted Effect probably damaging
Transcript: ENSMUST00000023820
AA Change: R96C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023820
Gene: ENSMUSG00000023057
AA Change: R96C

DomainStartEndE-ValueType
Pfam:Lipocalin_7 1 131 1.2e-9 PFAM
Pfam:Lipocalin 4 132 4.8e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199131
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik T C 3: 121,465,051 (GRCm39) V29A unknown Het
Abcc8 C A 7: 45,772,281 (GRCm39) probably null Het
Ankar A T 1: 72,705,514 (GRCm39) I614N probably damaging Het
Ash1l G A 3: 88,873,364 (GRCm39) R49H probably benign Het
Atp8b1 T C 18: 64,671,654 (GRCm39) H1123R probably damaging Het
Casp12 T C 9: 5,358,317 (GRCm39) Y375H possibly damaging Het
Cbl A G 9: 44,062,770 (GRCm39) I861T possibly damaging Het
Cdh20 T C 1: 104,902,764 (GRCm39) L485P probably damaging Het
Cobl A T 11: 12,336,712 (GRCm39) N25K possibly damaging Het
Col14a1 T C 15: 55,282,193 (GRCm39) V818A unknown Het
Csmd3 G A 15: 47,619,359 (GRCm39) probably benign Het
Dpp6 A G 5: 27,869,755 (GRCm39) Y509C probably damaging Het
Fam53a T C 5: 33,757,938 (GRCm39) D395G probably damaging Het
Gabrb1 T A 5: 71,858,190 (GRCm39) I72K probably damaging Het
Hmcn2 G A 2: 31,340,964 (GRCm39) S4479N probably damaging Het
Hrnr C T 3: 93,231,052 (GRCm39) T430I unknown Het
Ighv1-53 T A 12: 115,122,235 (GRCm39) T47S probably benign Het
Ilk C A 7: 105,390,840 (GRCm39) P261Q probably damaging Het
Ints10 T G 8: 69,257,485 (GRCm39) D228E probably damaging Het
Kcnq5 A T 1: 21,472,816 (GRCm39) S782R probably benign Het
Map3k4 A G 17: 12,467,897 (GRCm39) S1046P probably damaging Het
Musk C T 4: 58,354,113 (GRCm39) P374S probably benign Het
Or52e18 T A 7: 104,609,853 (GRCm39) I29F probably benign Het
Or5b108 C A 19: 13,168,779 (GRCm39) Y249* probably null Het
Or5j1 G A 2: 86,879,355 (GRCm39) S75L possibly damaging Het
Or5w19 T A 2: 87,699,019 (GRCm39) I228N probably damaging Het
Pkd2 T C 5: 104,624,941 (GRCm39) Y246H probably benign Het
Plekha5 G T 6: 140,529,576 (GRCm39) G340* probably null Het
Plxna4 T A 6: 32,129,840 (GRCm39) M1828L probably damaging Het
Prex1 A G 2: 166,463,105 (GRCm39) I252T probably benign Het
Pura A G 18: 36,420,831 (GRCm39) D206G probably damaging Het
Rad54b T A 4: 11,612,713 (GRCm39) F782I probably damaging Het
Rbp4 T C 19: 38,112,563 (GRCm39) D90G probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Scn7a C A 2: 66,530,392 (GRCm39) R651L probably benign Het
Sh2d3c A T 2: 32,639,163 (GRCm39) probably null Het
Slc43a1 T G 2: 84,680,115 (GRCm39) L87R probably damaging Het
Sppl2c A G 11: 104,078,099 (GRCm39) T300A probably benign Het
Srgap2 T A 1: 131,284,645 (GRCm39) probably null Het
Tkt G A 14: 30,294,182 (GRCm39) V531M probably damaging Het
Twsg1 T C 17: 66,233,431 (GRCm39) D173G possibly damaging Het
Ugt2b37 G T 5: 87,388,861 (GRCm39) H451N probably benign Het
Ugt2b38 C T 5: 87,571,592 (GRCm39) D147N probably damaging Het
Vmn1r15 T C 6: 57,235,255 (GRCm39) I41T probably benign Het
Vwa5a A T 9: 38,649,252 (GRCm39) T667S probably benign Het
Xrn2 A G 2: 146,889,633 (GRCm39) E672G probably benign Het
Zfp235 T A 7: 23,834,727 (GRCm39) M1K probably null Het
Zmym1 T C 4: 126,941,553 (GRCm39) E847G probably damaging Het
Other mutations in Fabp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02569:Fabp2 APN 3 122,689,113 (GRCm39) missense probably damaging 0.99
R4177:Fabp2 UTSW 3 122,690,547 (GRCm39) missense possibly damaging 0.62
R7389:Fabp2 UTSW 3 122,689,014 (GRCm39) start gained probably benign
R8190:Fabp2 UTSW 3 122,690,419 (GRCm39) missense probably benign 0.05
Posted On 2015-04-16