|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 26, subfamily a, polypeptide 1|
|Synonyms||Cyp26, P450RA, P450RAI, retinoic acid hydrolase, RAH|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4693 (G1)|
|Chromosomal Location||37697808-37701528 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 37698477 bp|
|Amino Acid Change||Serine to Proline at position 126 (S126P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025946 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025946]|
|Predicted Effect||probably benign
AA Change: S126P
PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: S126P
|Meta Mutation Damage Score||0.2808|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die during mid-late gestation and exhibit spina bifida, caudal agenesis, and abnormalities of the kidneys, urogenital tract, hindgut, cervical vertebrae, and rostral hindbrain. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp26a1||
(F):5'- TTTCTGCAGATGAAGCGCAG -3'
(R):5'- GAGTACCCTTTCAAGAATTTCAGTCC -3'
(F):5'- GCGCAGGAAATACGGCTTCATC -3'
(R):5'- GGACTAACCCACGTGCTAG -3'