|Institutional Source||Beutler Lab|
|Gene Name||retinol binding protein 4, plasma|
|Synonyms||retinol binding protein 4, cellular, Rbp-4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7366 (G1)|
|Chromosomal Location||38116620-38125321 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 38124962 bp|
|Amino Acid Change||Arginine to Histidine at position 36 (R36H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025951 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025951] [ENSMUST00000112335]|
|Predicted Effect||possibly damaging
AA Change: R36H
PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: R36H
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||99% (94/95)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show abnormal retinal function and retinol level, delayed heart trabeculation, and increased myocyte proliferation and fibronectin deposition in cardiac jelly and nascent valves. Homozygotes for another null allele show testicular defects on a vitamin A-deficient diet. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rbp4||
(F):5'- TCTCCTTGACTCGGAAGCTG -3'
(R):5'- TTTTCGCTCAGTGAGGCCAC -3'
(F):5'- TTGACTCGGAAGCTGCTCAC -3'
(R):5'- ACACCATGGCCACGTAGG -3'