|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 11, subfamily b, polypeptide 2|
|Synonyms||Cyp11b-2, Cyp11b, aldosterone synthase, steroid-11-beta-hydroxylase|
|Is this an essential gene?||Probably non essential (E-score: 0.064)|
|Stock #||R6738 (G1)|
|Chromosomal Location||74851010-74856318 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 74853514 bp|
|Amino Acid Change||Threonine to Isoleucine at position 252 (T252I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000131503 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000167634]|
|Predicted Effect||possibly damaging
AA Change: T252I
PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: T252I
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
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 mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit some postnatal lethality, altered blood chemistry, hypotension, and abnormal adrenal cortex morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp11b2||
(F):5'- GGCCTGGTAGGAACATGTTAG -3'
(R):5'- GTCTTGAGGACAGAGATTGCCC -3'
(F):5'- CCTGGTAGGAACATGTTAGAAGAGC -3'
(R):5'- ACAGAGATTGCCCGCCTTAG -3'