Incidental Mutation 'R5780:Hsd11b2'
ID 446936
Institutional Source Beutler Lab
Gene Symbol Hsd11b2
Ensembl Gene ENSMUSG00000031891
Gene Name hydroxysteroid 11-beta dehydrogenase 2
Synonyms 11(beta)-HSD2, 11HSD2
MMRRC Submission 043205-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5780 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 106245387-106250620 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106248787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 93 (G93D)
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 damaging
Transcript: ENSMUST00000034363
AA Change: G93D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034363
Gene: ENSMUSG00000031891
AA Change: G93D

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik C T 1: 85,646,039 (GRCm39) A189T probably benign Het
Acsm4 A G 7: 119,293,068 (GRCm39) E66G possibly damaging Het
Afm A G 5: 90,699,290 (GRCm39) E578G possibly damaging Het
Alox5 A T 6: 116,397,310 (GRCm39) D291E probably benign Het
Apoa4 A G 9: 46,153,890 (GRCm39) M164V possibly damaging Het
Atp6v1a A T 16: 43,935,006 (GRCm39) M61K probably benign Het
Avp A G 2: 130,422,629 (GRCm39) S159P probably benign Het
Bicra A T 7: 15,713,679 (GRCm39) L841Q possibly damaging Het
Cdk5rap1 CTT CT 2: 154,187,788 (GRCm39) probably null Het
Clasp2 T G 9: 113,679,220 (GRCm39) L246R probably damaging Het
Dhdds G A 4: 133,724,141 (GRCm39) L58F probably damaging Het
Dmkn A G 7: 30,477,040 (GRCm39) D227G probably damaging Het
Dnah7a G A 1: 53,522,478 (GRCm39) A2920V probably benign Het
Epb41l1 C T 2: 156,338,445 (GRCm39) R163W probably damaging Het
Etfbkmt T A 6: 149,048,657 (GRCm39) Y99N probably damaging Het
Fat4 T C 3: 39,035,104 (GRCm39) Y2919H probably damaging Het
Fcgbp T A 7: 27,784,643 (GRCm39) D234E probably benign Het
Frem1 T C 4: 82,868,652 (GRCm39) D1443G probably benign Het
Fscn2 A C 11: 120,257,494 (GRCm39) E285A probably benign Het
Hmga2 T A 10: 120,298,583 (GRCm39) R79* probably null Het
Hrh3 A T 2: 179,742,608 (GRCm39) V308E probably damaging Het
Hydin T C 8: 111,312,712 (GRCm39) F4151S probably damaging Het
Ica1l C A 1: 60,067,374 (GRCm39) E5D probably benign Het
Kcnma1 C A 14: 23,436,419 (GRCm39) E640* probably null Het
Mdn1 C T 4: 32,722,950 (GRCm39) H2422Y probably benign Het
Mgarp T C 3: 51,299,269 (GRCm39) T47A probably damaging Het
Mmp13 T G 9: 7,278,952 (GRCm39) F348V possibly damaging Het
Mov10l1 A G 15: 88,896,181 (GRCm39) D675G probably benign Het
Mtcl2 A G 2: 156,860,410 (GRCm39) C1610R probably damaging Het
Nxpe3 T A 16: 55,686,804 (GRCm39) Q68L probably damaging Het
Or4k41 A T 2: 111,280,178 (GRCm39) D231V probably benign Het
Or6c208 T C 10: 129,223,939 (GRCm39) S146P probably damaging Het
Or7e175 T A 9: 20,048,793 (GRCm39) M127K probably damaging Het
Pald1 A T 10: 61,174,997 (GRCm39) I751N probably damaging Het
Pramel19 C T 4: 101,798,724 (GRCm39) L232F probably damaging Het
Prickle2 T C 6: 92,435,593 (GRCm39) T3A probably benign Het
Ros1 A T 10: 52,070,953 (GRCm39) C34S probably damaging Het
Sema3f A G 9: 107,559,788 (GRCm39) L702P probably damaging Het
Sptbn2 T A 19: 4,774,695 (GRCm39) L116Q probably damaging Het
Stard9 T C 2: 120,533,877 (GRCm39) V3378A probably benign Het
Sycp2l A G 13: 41,282,976 (GRCm39) I158V possibly damaging Het
Tbc1d10b G A 7: 126,797,925 (GRCm39) R739W possibly damaging Het
Tnik T C 3: 28,648,241 (GRCm39) M431T probably benign Het
Ube4b C T 4: 149,415,821 (GRCm39) R1091Q probably benign Het
Vwce C A 19: 10,627,983 (GRCm39) P481Q probably damaging Het
Zfp1005 T A 2: 150,108,139 (GRCm39) M33K probably benign Het
Other mutations in Hsd11b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Hsd11b2 APN 8 106,249,759 (GRCm39) missense probably benign 0.06
IGL01620:Hsd11b2 APN 8 106,249,529 (GRCm39) missense probably benign 0.04
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
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
Predicted Primers PCR Primer
(F):5'- ACAACTGTCACAGAACTGATGCTC -3'
(R):5'- AGACACATCTGCTGACCAGTG -3'

Sequencing Primer
(F):5'- CTGATGCTCAGGGTTCAGTCAG -3'
(R):5'- CCTTGGTGATTTCCAGAACACGG -3'
Posted On 2016-12-15