Incidental Mutation 'R2409:Fabp7'
ID 248135
Institutional Source Beutler Lab
Gene Symbol Fabp7
Ensembl Gene ENSMUSG00000019874
Gene Name fatty acid binding protein 7, brain
Synonyms B-FABP, BFABP, Blbp
MMRRC Submission 040375-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2409 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 57661019-57664546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57661772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 82 (K82E)
Ref Sequence ENSEMBL: ENSMUSP00000131415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020024] [ENSMUST00000165013]
AlphaFold P51880
Predicted Effect possibly damaging
Transcript: ENSMUST00000020024
AA Change: K82E

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020024
Gene: ENSMUSG00000019874
AA Change: K82E

DomainStartEndE-ValueType
Pfam:Lipocalin_7 3 132 4.6e-10 PFAM
Pfam:Lipocalin 7 132 4.2e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165013
AA Change: K82E

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131415
Gene: ENSMUSG00000019874
AA Change: K82E

DomainStartEndE-ValueType
Pfam:Lipocalin_7 3 125 4.7e-10 PFAM
Pfam:Lipocalin 7 123 8.4e-26 PFAM
low complexity region 129 145 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177265
Meta Mutation Damage Score 0.4185 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a small, highly conserved cytoplasmic protein that bind long-chain fatty acids and other hydrophobic ligands. The encoded protein is important in the establishment of the radial glial fiber in the developing brain. Alternative splicing and promoter usage results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased fear memory, increased anxiety, and decreased sensitivity to DHA-induced NMDA currents. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,788,747 (GRCm39) T1042I probably benign Het
Adamts13 A G 2: 26,868,374 (GRCm39) T162A probably benign Het
Adamts7 T A 9: 90,062,740 (GRCm39) I398N probably damaging Het
Cib2 A G 9: 54,452,751 (GRCm39) probably null Het
Cyp3a16 T C 5: 145,377,177 (GRCm39) K470R probably benign Het
Dpy19l2 A G 9: 24,569,924 (GRCm39) M343T probably benign Het
Dyrk2 A G 10: 118,696,532 (GRCm39) V242A probably benign Het
Extl3 T C 14: 65,315,017 (GRCm39) D55G probably benign Het
Fat1 G T 8: 45,493,567 (GRCm39) probably benign Het
Gen1 A G 12: 11,299,165 (GRCm39) I280T possibly damaging Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Gucy1b2 CCGTGTTT C 14: 62,643,628 (GRCm39) probably null Het
Il3ra G A 14: 14,349,377 (GRCm38) probably null Het
Myo1f A G 17: 33,795,641 (GRCm39) N66D probably damaging Het
Nfkb1 C T 3: 135,319,704 (GRCm39) E264K possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or7d10 G T 9: 19,832,072 (GRCm39) R189L probably benign Het
Or7d10 G C 9: 19,832,077 (GRCm39) D191H probably damaging Het
Prdm10 A G 9: 31,260,418 (GRCm39) H624R possibly damaging Het
Rgs5 G T 1: 169,504,451 (GRCm39) V34F possibly damaging Het
Sec14l4 T C 11: 3,990,048 (GRCm39) S116P probably benign Het
Septin1 T C 7: 126,815,143 (GRCm39) probably null Het
Septin9 T A 11: 117,251,287 (GRCm39) I535N probably damaging Het
Sh2b1 C T 7: 126,070,651 (GRCm39) G350D probably damaging Het
Slc6a21 T C 7: 44,929,750 (GRCm39) V107A probably benign Het
Trim26 C A 17: 37,161,895 (GRCm39) H105N probably damaging Het
Trim71 A T 9: 114,342,781 (GRCm39) D500E possibly damaging Het
Vmn2r78 T A 7: 86,569,953 (GRCm39) probably benign Het
Vmn2r84 A G 10: 130,227,940 (GRCm39) S99P probably damaging Het
Other mutations in Fabp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0571:Fabp7 UTSW 10 57,661,637 (GRCm39) missense probably benign 0.01
R4835:Fabp7 UTSW 10 57,661,676 (GRCm39) missense possibly damaging 0.80
R7206:Fabp7 UTSW 10 57,661,087 (GRCm39) start gained probably benign
R9169:Fabp7 UTSW 10 57,662,439 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGTTGCTGTTAACTGCGCTG -3'
(R):5'- GATAAATAGCCTGCAAGTTTGGC -3'

Sequencing Primer
(F):5'- GTTAACTGCGCTGGCTCC -3'
(R):5'- CCTGCAAGTTTGGCTCTGGAAATTAC -3'
Posted On 2014-11-11