Incidental Mutation 'IGL01620:Hsd11b2'
ID 92548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd11b2
Ensembl Gene ENSMUSG00000031891
Gene Name hydroxysteroid 11-beta dehydrogenase 2
Synonyms 11(beta)-HSD2, 11HSD2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01620
Quality Score
Status
Chromosome 8
Chromosomal Location 106245387-106250620 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106249529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 266 (K266R)
Ref Sequence ENSEMBL: ENSMUSP00000034363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013304] [ENSMUST00000034363]
AlphaFold P51661
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: K266R

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000034363
Gene: ENSMUSG00000031891
AA Change: K266R

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,248,385 (GRCm39) V277D probably damaging Het
Akap9 T A 5: 4,010,218 (GRCm39) V325D probably benign Het
Ambra1 A G 2: 91,741,757 (GRCm39) probably null Het
Ano9 A G 7: 140,690,352 (GRCm39) L94P probably damaging Het
Atad3a G T 4: 155,830,535 (GRCm39) T521K probably damaging Het
Bckdk A G 7: 127,504,948 (GRCm39) K126E possibly damaging Het
Bdp1 A T 13: 100,220,713 (GRCm39) probably benign Het
Btbd17 T C 11: 114,686,599 (GRCm39) T26A probably benign Het
Cadps2 G A 6: 23,587,461 (GRCm39) S314L probably benign Het
Ccl8 A T 11: 82,007,435 (GRCm39) Q90L probably damaging Het
Chit1 T C 1: 134,078,257 (GRCm39) V355A probably damaging Het
Col17a1 A G 19: 47,656,978 (GRCm39) I555T possibly damaging Het
Dmwd T A 7: 18,815,159 (GRCm39) probably null Het
Dtna T C 18: 23,758,144 (GRCm39) I483T probably damaging Het
Eloc T A 1: 16,713,502 (GRCm39) probably benign Het
Emc7 T A 2: 112,295,119 (GRCm39) L177H probably damaging Het
Emsy T A 7: 98,275,831 (GRCm39) K352I probably damaging Het
Ermn T C 2: 57,942,502 (GRCm39) E76G probably benign Het
Flot1 A T 17: 36,140,763 (GRCm39) E203V possibly damaging Het
Iqck A T 7: 118,476,901 (GRCm39) K154M probably damaging Het
Itgb5 T A 16: 33,740,168 (GRCm39) V426E probably damaging Het
Kash5 T C 7: 44,839,384 (GRCm39) D359G probably damaging Het
Kif13a T C 13: 47,018,296 (GRCm39) K53R probably benign Het
Klhl2 A T 8: 65,232,772 (GRCm39) H168Q probably damaging Het
Lpcat2b T C 5: 107,581,759 (GRCm39) Y363H probably damaging Het
Lrp6 A T 6: 134,488,225 (GRCm39) N290K probably damaging Het
Map2k3 T C 11: 60,840,873 (GRCm39) F301L possibly damaging Het
Mns1 A G 9: 72,364,195 (GRCm39) probably benign Het
Nos1 A G 5: 118,043,374 (GRCm39) probably null Het
Or1j17 T A 2: 36,578,550 (GRCm39) C179S probably damaging Het
Or52h7 T A 7: 104,214,220 (GRCm39) V264D probably damaging Het
Pask A T 1: 93,237,844 (GRCm39) H1374Q possibly damaging Het
Pik3r1 G A 13: 101,822,728 (GRCm39) A658V probably damaging Het
Ppp2r2a A T 14: 67,307,726 (GRCm39) F14I probably damaging Het
Ptprc C T 1: 137,996,148 (GRCm39) E904K possibly damaging Het
Rab11fip4 G T 11: 79,582,705 (GRCm39) D591Y possibly damaging Het
Rab3gap2 A G 1: 184,936,523 (GRCm39) T29A probably benign Het
Rgs19 A G 2: 181,331,381 (GRCm39) V84A possibly damaging Het
Shisa6 T G 11: 66,108,705 (GRCm39) M391L probably benign Het
Sipa1l1 G A 12: 82,469,263 (GRCm39) G1254D probably damaging Het
Slfn8 A T 11: 82,895,059 (GRCm39) Y358* probably null Het
Taf3 G T 2: 9,957,472 (GRCm39) R232S probably benign Het
Terb2 T A 2: 122,035,338 (GRCm39) H186Q possibly damaging Het
Trav13n-4 T C 14: 53,601,473 (GRCm39) S81P probably damaging Het
Trim30d G T 7: 104,121,333 (GRCm39) P321T possibly damaging Het
Tyrp1 G T 4: 80,763,039 (GRCm39) G309* probably null Het
Vps13d C A 4: 144,821,437 (GRCm39) G2979V possibly damaging Het
Other mutations in Hsd11b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Hsd11b2 APN 8 106,249,759 (GRCm39) missense probably benign 0.06
IGL02257:Hsd11b2 APN 8 106,249,854 (GRCm39) missense probably benign 0.04
IGL02655:Hsd11b2 APN 8 106,248,960 (GRCm39) missense probably benign 0.00
gilberto UTSW 8 106,249,699 (GRCm39) missense possibly damaging 0.96
R0254:Hsd11b2 UTSW 8 106,249,699 (GRCm39) missense possibly damaging 0.96
R1082:Hsd11b2 UTSW 8 106,249,783 (GRCm39) missense probably damaging 0.99
R2050:Hsd11b2 UTSW 8 106,249,992 (GRCm39) missense probably benign 0.27
R4135:Hsd11b2 UTSW 8 106,249,798 (GRCm39) missense probably benign
R5294:Hsd11b2 UTSW 8 106,249,929 (GRCm39) missense probably benign 0.01
R5598:Hsd11b2 UTSW 8 106,249,143 (GRCm39) missense probably benign
R5780:Hsd11b2 UTSW 8 106,248,787 (GRCm39) missense probably damaging 1.00
R6058:Hsd11b2 UTSW 8 106,249,966 (GRCm39) missense possibly damaging 0.59
R6867:Hsd11b2 UTSW 8 106,248,949 (GRCm39) missense probably benign 0.00
R7535:Hsd11b2 UTSW 8 106,245,755 (GRCm39) missense probably damaging 0.99
R7786:Hsd11b2 UTSW 8 106,245,506 (GRCm39) missense probably damaging 0.99
R8006:Hsd11b2 UTSW 8 106,245,735 (GRCm39) missense possibly damaging 0.95
R8110:Hsd11b2 UTSW 8 106,249,266 (GRCm39) missense probably damaging 0.98
R8889:Hsd11b2 UTSW 8 106,249,263 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09