|Institutional Source||Beutler Lab|
|Gene Name||ADP-ribosylation factor-like 6 interacting protein 5|
|Synonyms||5930404D22Rik, Aip-5, Gtrap3-18, addiscin|
|Is this an essential gene?||Probably non essential (E-score: 0.139)|
|Stock #||R2255 (G1)|
|Chromosomal Location||97210689-97233315 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 97232400 bp|
|Amino Acid Change||Leucine to Serine at position 132 (L132S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041503 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044681]|
|Predicted Effect||probably damaging
AA Change: L132S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L132S
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased resistance to oxidative stress hypoactivity, enhanced motor coordination and learning, and enhanced spatial working memory. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arl6ip5||
(F):5'- CACAACAGTCAGTGTGTGGC -3'
(R):5'- CCCTCGCTTTGCTGATGTAG -3'
(F):5'- CACATCCATGTTAGGTGGCTCAG -3'
(R):5'- GAGTTTTCTTCAGGCCGA -3'