Incidental Mutation 'IGL02569:Fabp2'
ID298950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fabp2
Ensembl Gene ENSMUSG00000023057
Gene Namefatty acid binding protein 2, intestinal
SynonymsFabpi, Fabpi, I-FABP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.206) question?
Stock #IGL02569
Quality Score
Status
Chromosome3
Chromosomal Location122895072-122899506 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122895464 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 18 (F18L)
Ref Sequence ENSEMBL: ENSMUSP00000023820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023820]
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
5830411N06Rik A C 7: 140,298,362 I885L probably benign Het
Abca1 T C 4: 53,034,061 D2223G probably damaging Het
Brd1 A G 15: 88,713,929 L538P probably damaging Het
Cacna2d2 T C 9: 107,514,046 V424A probably damaging Het
Capg A C 6: 72,561,049 E306A probably damaging Het
Cdc14b T C 13: 64,225,614 Y115C probably benign Het
Crat G A 2: 30,404,530 R509W probably damaging Het
Ddx60 A G 8: 62,024,951 N1594S possibly damaging Het
Fam187a A G 11: 102,886,159 K263R probably benign Het
Fam227a C T 15: 79,634,122 C323Y probably benign Het
Fas A G 19: 34,320,562 E210G possibly damaging Het
Fgfbp1 A G 5: 43,979,227 F241S probably damaging Het
Gramd1a A T 7: 31,130,507 probably benign Het
Hmcn1 A T 1: 150,697,493 M2135K probably benign Het
Ikbkb G T 8: 22,693,883 Q84K probably damaging Het
Kcnk9 T C 15: 72,512,577 T251A probably benign Het
Mphosph9 C A 5: 124,297,571 E600* probably null Het
Olfr694 T A 7: 106,689,642 T30S probably benign Het
Olfr705 T A 7: 106,714,586 I32L probably benign Het
Pde1a C A 2: 79,868,258 K341N probably benign Het
Prune2 A G 19: 17,178,859 N2792S probably damaging Het
Slc17a3 A G 13: 23,846,302 Y132C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
St6galnac1 T C 11: 116,767,702 D312G probably damaging Het
Tardbp A G 4: 148,619,182 probably null Het
Tex9 C T 9: 72,478,363 V8I probably damaging Het
Tpr T A 1: 150,425,631 probably benign Het
Ttll8 C T 15: 88,933,926 W182* probably null Het
Vmn2r61 G A 7: 42,276,646 G525E probably damaging Het
Zfp111 T C 7: 24,207,069 T2A possibly damaging Het
Other mutations in Fabp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02326:Fabp2 APN 3 122898746 missense probably damaging 1.00
R4177:Fabp2 UTSW 3 122896898 missense possibly damaging 0.62
R7389:Fabp2 UTSW 3 122895365 start gained probably benign
R8190:Fabp2 UTSW 3 122896770 missense probably benign 0.05
Posted On2015-04-16