Incidental Mutation 'IGL00329:Hsd11b2'
ID4973
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd11b2
Ensembl Gene ENSMUSG00000031891
Gene Namehydroxysteroid 11-beta dehydrogenase 2
Synonyms11HSD2, 11(beta)-HSD2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00329
Quality Score
Status
Chromosome8
Chromosomal Location105518755-105523988 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105523127 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 290 (E290G)
Ref Sequence ENSEMBL: ENSMUSP00000034363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013304] [ENSMUST00000034363]
Predicted Effect probably benign
Transcript: ENSMUST00000013304
SMART Domains Protein: ENSMUSP00000013304
Gene: ENSMUSG00000013160

DomainStartEndE-ValueType
Pfam:vATP-synt_AC39 16 347 2.4e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034363
AA Change: E290G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000034363
Gene: ENSMUSG00000031891
AA Change: E290G

DomainStartEndE-ValueType
low complexity region 11 32 N/A INTRINSIC
low complexity region 34 44 N/A INTRINSIC
low complexity region 51 65 N/A INTRINSIC
Pfam:adh_short 83 278 9.2e-47 PFAM
Pfam:adh_short_C2 89 294 2e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T A 13: 63,191,163 I623N probably damaging Het
Acad9 A G 3: 36,069,762 N72S probably benign Het
Apba3 C T 10: 81,273,067 P555S probably damaging Het
Arcn1 C A 9: 44,759,036 E98* probably null Het
Col28a1 G T 6: 8,175,425 T141K probably damaging Het
Dna2 T C 10: 62,966,443 F811S probably damaging Het
Dusp19 T A 2: 80,630,925 I186K probably damaging Het
Dync2li1 A G 17: 84,644,726 D195G possibly damaging Het
Epm2aip1 T C 9: 111,272,787 V276A possibly damaging Het
Extl3 T C 14: 65,075,621 E704G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Gle1 T C 2: 29,939,289 probably benign Het
Gm2178 C A 14: 26,514,612 probably benign Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gm7257 G A 9: 36,432,902 probably benign Het
Herc2 T A 7: 56,124,299 L1166Q probably damaging Het
Inpp5d T C 1: 87,668,003 V157A probably benign Het
Krt72 T A 15: 101,784,999 Q160L probably damaging Het
Lrrd1 A G 5: 3,850,081 K129E possibly damaging Het
Mapk13 A G 17: 28,776,405 Y200C probably damaging Het
Mme G A 3: 63,380,328 W750* probably null Het
Nat8l C T 5: 33,998,417 P139L probably damaging Het
Nrtn C A 17: 56,751,569 R144L probably benign Het
Olfr651 C A 7: 104,553,092 P58T probably benign Het
Pdgfa T A 5: 138,988,461 probably benign Het
Rtp3 A G 9: 110,986,598 V233A probably benign Het
Syne2 A G 12: 76,031,700 probably benign Het
Trappc10 A T 10: 78,203,877 probably benign Het
Usp24 A G 4: 106,359,091 T380A probably benign Het
Vmn1r21 A T 6: 57,844,064 S132T probably benign Het
Other mutations in Hsd11b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Hsd11b2 APN 8 105522897 missense probably benign 0.04
IGL02257:Hsd11b2 APN 8 105523222 missense probably benign 0.04
IGL02655:Hsd11b2 APN 8 105522328 missense probably benign 0.00
gilberto UTSW 8 105523067 missense possibly damaging 0.96
R0254:Hsd11b2 UTSW 8 105523067 missense possibly damaging 0.96
R1082:Hsd11b2 UTSW 8 105523151 missense probably damaging 0.99
R2050:Hsd11b2 UTSW 8 105523360 missense probably benign 0.27
R4135:Hsd11b2 UTSW 8 105523166 missense probably benign
R5294:Hsd11b2 UTSW 8 105523297 missense probably benign 0.01
R5598:Hsd11b2 UTSW 8 105522511 missense probably benign
R5780:Hsd11b2 UTSW 8 105522155 missense probably damaging 1.00
R6058:Hsd11b2 UTSW 8 105523334 missense possibly damaging 0.59
R6867:Hsd11b2 UTSW 8 105522317 missense probably benign 0.00
R7535:Hsd11b2 UTSW 8 105519123 missense probably damaging 0.99
R7786:Hsd11b2 UTSW 8 105518874 missense probably damaging 0.99
R8006:Hsd11b2 UTSW 8 105519103 missense possibly damaging 0.95
R8110:Hsd11b2 UTSW 8 105522634 missense probably damaging 0.98
Posted On2012-04-20