|Institutional Source||Beutler Lab|
|Gene Name||cellular retinoic acid binding protein II|
|Is this an essential gene?||Possibly essential (E-score: 0.515)|
|Stock #||R1776 (G1)|
|Chromosomal Location||87948666-87953376 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 87952994 bp|
|Amino Acid Change||Threonine to Lysine at position 125 (T125K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005019 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005019]|
|Predicted Effect||probably benign
AA Change: T125K
PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
AA Change: T125K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.038|
|Coding Region Coverage||
|Validation Efficiency||98% (86/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the retinoic acid (RA, a form of vitamin A) binding protein family and lipocalin/cytosolic fatty-acid binding protein family. The protein is a cytosol-to-nuclear shuttling protein, which facilitates RA binding to its cognate receptor complex and transfer to the nucleus. It is involved in the retinoid signaling pathway, and is associated with increased circulating low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygotes for targeted null mutations may exhibit an additional postaxial digit, usually on a single forepaw. Penetrance is dependent on the genetic background. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Crabp2||
(F):5'- TTGATCCCCAGCAATGATGCCC -3'
(R):5'- AGACAGTCTCTTCCAGGAAGGACC -3'
(F):5'- ATGCCCCGGCATCCTTG -3'
(R):5'- CCCCTCTCTGGCTTAGAGAAG -3'