|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 21, subfamily a, polypeptide 1|
|Synonyms||Oh21-1, 21OHA, 21-hydroxylase, 21-OH, Cyp21, 21OH, Oh21-1|
|Is this an essential gene?||Probably non essential (E-score: 0.125)|
|Stock #||R7077 (G1)|
|Chromosomal Location||34801348-34804561 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 34802359 bp|
|Amino Acid Change||Arginine to Leucine at position 346 (R346L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025223 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025223]|
|Predicted Effect||probably damaging
AA Change: R346L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R346L
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
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 protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: An 80kb deletion including Cyp21a1 is found in mice with the H2 haplotype aw18. Homozygotes are lethal, but can be rescued with a Cyp21a1 transgene. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp21a1||
(F):5'- ACCATCTCATCCAGGTTGGC -3'
(R):5'- TAGGGTCAGCTAGATGGCAG -3'
(F):5'- ATCCAGGTTGGCGCCTTG -3'
(R):5'- TGGGCAGCTGTGAGCCAC -3'