|Institutional Source||Beutler Lab|
|Gene Name||hydroxysteroid 11-beta dehydrogenase 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0254 (G1)|
|Chromosomal Location||105518746-105523984 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 105523067 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 270 (V270E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034363 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034363]|
|Predicted Effect||possibly damaging
AA Change: V270E
PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: V270E
|Meta Mutation Damage Score||0.77|
|Coding Region Coverage||
|Validation Efficiency||100% (100/100)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are at least two isozymes of the corticosteroid 11-beta-dehydrogenase, a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. The type I isozyme has both 11-beta-dehydrogenase (cortisol to cortisone) and 11-oxoreductase (cortisone to cortisol) activities. The type II isozyme, encoded by this gene, has only 11-beta-dehydrogenase activity. In aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. In tissues that do not express the mineralocorticoid receptor, such as the placenta and testis, it protects cells from the growth-inhibiting and/or pro-apoptotic effects of cortisol, particularly during embryonic development. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010]
PHENOTYPE: About half of all mice homozygous for disruptions in this gene die within 48 hours of birth. Survivors are subject to sudden unexplained deaths when between 2 and 4 months of age. They are hypertensive with dilute urine and are hypokalemic and hypochloremic. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hsd11b2||
(F):5'- GGCAGCAATAGCACTGCTTATGGAC -3'
(R):5'- GGCTAAGGTCAGGCAATGCCATTC -3'
(F):5'- ACTGCTTATGGACACATTCGG -3'
(R):5'- GCACGTGCTCAATGTAGTCT -3'
|Posted On||May 09, 2013|