Incidental Mutation 'IGL02569:Fabp2'
ID 298950
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 # IGL02569
Quality Score
Status
Chromosome 3
Chromosomal Location 122688721-122693155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122689113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 18 (F18L)
Ref Sequence ENSEMBL: ENSMUSP00000023820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023820]
AlphaFold P55050
Predicted Effect probably damaging
Transcript: ENSMUST00000023820
AA Change: F18L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023820
Gene: ENSMUSG00000023057
AA Change: F18L

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,034,061 (GRCm39) D2223G probably damaging Het
Brd1 A G 15: 88,598,132 (GRCm39) L538P probably damaging Het
Cacna2d2 T C 9: 107,391,245 (GRCm39) V424A probably damaging Het
Capg A C 6: 72,538,032 (GRCm39) E306A probably damaging Het
Cdc14b T C 13: 64,373,428 (GRCm39) Y115C probably benign Het
Crat G A 2: 30,294,542 (GRCm39) R509W probably damaging Het
Ddx60 A G 8: 62,477,985 (GRCm39) N1594S possibly damaging Het
Fam187a A G 11: 102,776,985 (GRCm39) K263R probably benign Het
Fam227a C T 15: 79,518,323 (GRCm39) C323Y probably benign Het
Fas A G 19: 34,297,962 (GRCm39) E210G possibly damaging Het
Fgfbp1 A G 5: 44,136,569 (GRCm39) F241S probably damaging Het
Gramd1a A T 7: 30,829,932 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,573,244 (GRCm39) M2135K probably benign Het
Ikbkb G T 8: 23,183,899 (GRCm39) Q84K probably damaging Het
Kcnk9 T C 15: 72,384,426 (GRCm39) T251A probably benign Het
Mphosph9 C A 5: 124,435,634 (GRCm39) E600* probably null Het
Or2ag1 T A 7: 106,313,793 (GRCm39) I32L probably benign Het
Or2ag1b T A 7: 106,288,849 (GRCm39) T30S probably benign Het
Pde1a C A 2: 79,698,602 (GRCm39) K341N probably benign Het
Prune2 A G 19: 17,156,223 (GRCm39) N2792S probably damaging Het
Scart2 A C 7: 139,878,275 (GRCm39) I885L probably benign Het
Slc17a3 A G 13: 24,030,285 (GRCm39) Y132C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
St6galnac1 T C 11: 116,658,528 (GRCm39) D312G probably damaging Het
Tardbp A G 4: 148,703,639 (GRCm39) probably null Het
Tex9 C T 9: 72,385,645 (GRCm39) V8I probably damaging Het
Tpr T A 1: 150,301,382 (GRCm39) probably benign Het
Ttll8 C T 15: 88,818,129 (GRCm39) W182* probably null Het
Vmn2r61 G A 7: 41,926,070 (GRCm39) G525E probably damaging Het
Zfp111 T C 7: 23,906,494 (GRCm39) T2A possibly damaging Het
Other mutations in Fabp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02326:Fabp2 APN 3 122,692,395 (GRCm39) missense probably damaging 1.00
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