|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 11, subfamily b, polypeptide 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.315)|
|Stock #||R5822 (G1)|
|Chromosomal Location||74834125-74841643 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 74836821 bp|
|Amino Acid Change||Arginine to Glycine at position 375 (R375G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000127888 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000170259] [ENSMUST00000188180]|
|Predicted Effect||probably null
AA Change: R375G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R375G
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6468|
|Coding Region Coverage||
|Validation Efficiency||96% (54/56)|
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. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp11b1||
(F):5'- AAAGGCTTCTCCTGTCCACATC -3'
(R):5'- CAATGTCCTTTGGCAGGGTG -3'
(F):5'- TCCTGTCCACATCCACACC -3'
(R):5'- GAGATTGCTCTCTGGCTCCTG -3'