Incidental Mutation 'R6223:Fabp5'
ID 504126
Institutional Source Beutler Lab
Gene Symbol Fabp5
Ensembl Gene ENSMUSG00000027533
Gene Name fatty acid binding protein 5, epidermal
Synonyms Klbp, Unknown Klbp, keratinocyte lipid binding protein, mal1, Fabpe E-FABP
MMRRC Submission 044354-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6223 (G1)
Quality Score 204.009
Status Not validated
Chromosome 3
Chromosomal Location 10012548-10016607 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10015110 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 73 (F73L)
Ref Sequence ENSEMBL: ENSMUSP00000029046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029046]
AlphaFold Q05816
PDB Structure Murine epidermal fatty acid-binding protein (FABP5), apo form, poly- his tag-mediated crystal packing [X-RAY DIFFRACTION]
Murine epidermal fatty acid-binding protein (FABP5), apo form, poly- his tag removed [X-RAY DIFFRACTION]
Murine epidermal fatty acid-binding protein (FABP5) in complex with the endocannabinoid anandamide [X-RAY DIFFRACTION]
Murine epidermal fatty acid-binding protein (FABP5) in complex with the endocannabinoid 2-arachidonoylglycerol [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000029046
AA Change: F73L

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029046
Gene: ENSMUSG00000027533
AA Change: F73L

DomainStartEndE-ValueType
Pfam:Lipocalin 8 134 2.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123744
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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. In humans this gene has been associated with psoriasis and type 2 diabetes. In mouse deficiency of this gene in combination with a deficiency in Fabp4 confers protection against atherosclerosis, diet-induced obesity, insulin resistance and experimental autoimmune encephalomyelitis (the mouse model for multiple sclerosis). Alternative splicing results in multiple transcript variants that encode different protein isoforms. The mouse genome contains many pseudogenes similar to this locus. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene, depending on allele, display impaired skin barrier function or resistance to diet-induced obesity, showing decreased adipose tissue and imporved glucose tolerance and insulin sensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A C 2: 152,427,953 R8S probably benign Het
Abca8b A G 11: 109,977,846 V164A probably benign Het
Acadm C A 3: 153,938,549 probably null Het
Ap3b2 G A 7: 81,473,462 R435* probably null Het
Art2b A G 7: 101,579,951 F247S possibly damaging Het
C1rb T A 6: 124,574,580 D216E probably benign Het
Casz1 C A 4: 148,933,383 D90E probably damaging Het
Ccdc13 A G 9: 121,798,909 probably benign Het
Cdc25a C A 9: 109,889,774 P409T possibly damaging Het
Cidea A C 18: 67,358,739 K23T possibly damaging Het
Clspn T A 4: 126,586,168 D1101E probably damaging Het
Col10a1 A T 10: 34,395,187 D385V probably damaging Het
Crat C T 2: 30,407,030 V304I probably benign Het
Cyp2d26 A T 15: 82,791,717 W265R probably benign Het
Dock8 A T 19: 25,161,052 Y1247F probably benign Het
Eed A G 7: 89,956,287 Y365H probably damaging Het
Fbn1 C T 2: 125,412,671 C224Y possibly damaging Het
Ggcx T C 6: 72,429,605 F684L probably damaging Het
Glrp1 G A 1: 88,503,442 Q69* probably null Het
Gm29797 T C 2: 181,659,057 V115A possibly damaging Het
Gtf3c1 C T 7: 125,676,625 R543K probably benign Het
Ifih1 T C 2: 62,598,259 I891V probably benign Het
Ifnar2 C T 16: 91,387,988 T89M probably damaging Het
Kat6a C A 8: 22,940,426 N1932K unknown Het
Mgat5 A T 1: 127,382,979 D210V possibly damaging Het
Mmel1 A G 4: 154,871,702 probably null Het
Myh3 G T 11: 67,098,017 V1499L probably benign Het
Ncan A C 8: 70,109,954 D551E probably benign Het
Nol11 G T 11: 107,171,616 T598K possibly damaging Het
Olfml3 G A 3: 103,736,460 R202W probably damaging Het
Olfr1362 G A 13: 21,611,366 T201I probably benign Het
Olfr1509 A G 14: 52,450,679 R89G probably benign Het
Pcdh9 T C 14: 93,015,733 K1131E probably benign Het
Pcolce A G 5: 137,605,299 M424T probably damaging Het
Pi16 C A 17: 29,327,439 S397* probably null Het
Pi4ka A T 16: 17,357,571 Y464* probably null Het
Pik3c2b T A 1: 133,070,357 L324M probably damaging Het
Prdm2 T C 4: 143,142,207 N179S probably benign Het
Prss56 C T 1: 87,185,412 P183S probably benign Het
Prx T G 7: 27,516,836 M393R probably damaging Het
Qpctl T C 7: 19,143,209 D328G probably damaging Het
Qser1 A G 2: 104,787,648 S940P probably benign Het
Rchy1 G A 5: 91,957,967 R41W probably damaging Het
Scp2d1 T C 2: 144,823,948 I69T possibly damaging Het
Sirpb1a A G 3: 15,379,026 V388A probably benign Het
Ssu2 G T 6: 112,376,448 C238* probably null Het
Stub1 C T 17: 25,832,813 G14D probably damaging Het
Tab1 T A 15: 80,148,263 C24S probably damaging Het
Tdrd1 T C 19: 56,865,850 V1076A probably damaging Het
Tex10 T C 4: 48,468,525 R134G probably damaging Het
Tg T A 15: 66,707,922 N1525K probably benign Het
Tll2 G A 19: 41,135,952 T208I possibly damaging Het
Tmem232 T C 17: 65,500,196 M1V probably null Het
Ttc7b A G 12: 100,387,109 probably null Het
Ubb A G 11: 62,552,525 E127G possibly damaging Het
Ulk2 A T 11: 61,787,504 Y796* probably null Het
Vdac2 G A 14: 21,845,178 G265R possibly damaging Het
Vmn2r45 A T 7: 8,483,302 V329E probably benign Het
Wdr60 T C 12: 116,257,458 D11G possibly damaging Het
Zfp651 G A 9: 121,763,787 R391Q possibly damaging Het
Other mutations in Fabp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03218:Fabp5 APN 3 10014963 splice site probably benign
R1640:Fabp5 UTSW 3 10015110 missense probably benign 0.10
R1672:Fabp5 UTSW 3 10015541 missense probably benign 0.17
R6020:Fabp5 UTSW 3 10016089 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTGGCCAGTGGGATGATAAG -3'
(R):5'- AGATGTCTTCATTTCTTAGTCCTGG -3'

Sequencing Primer
(F):5'- CCAGTGGGATGATAAGGAATGAATCC -3'
(R):5'- AGCCCTTGGCAGTAAGTA -3'
Posted On 2018-02-28