|Institutional Source||Beutler Lab|
|Gene Name||retinol binding protein 1, cellular|
|Synonyms||Rbp-1, Crbp, CRBPI|
|Is this an essential gene?||Not available|
|Stock #||R6146 (G1)|
|Chromosomal Location||98422961-98446575 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 98425616 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 79 (D79E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059749 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052068]|
|Predicted Effect||possibly damaging
AA Change: D79E
PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: D79E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for a targeted null mutation show increased susceptibility to a diet deficient in vitamin A. Mutants also exhibit a two-fold delay in dark adaptation after a photic flash. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
(F):5'- GAGTTTTCTTGACAACTCTGCC -3'
(R):5'- AATCGGTTTTGTCCAGCCACC -3'
(F):5'- TGACAACTCTGCCGCTGC -3'
(R):5'- ACCCCACACTTGCAGGG -3'