Incidental Mutation 'R2050:Hsd11b2'
ID 226343
Institutional Source Beutler Lab
Gene Symbol Hsd11b2
Ensembl Gene ENSMUSG00000031891
Gene Name hydroxysteroid 11-beta dehydrogenase 2
Synonyms 11(beta)-HSD2, 11HSD2
MMRRC Submission 040057-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2050 (G1)
Quality Score 123
Status Not validated
Chromosome 8
Chromosomal Location 106245387-106250620 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106249992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 368 (I368V)
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: I368V

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034363
Gene: ENSMUSG00000031891
AA Change: I368V

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 G T 10: 126,916,130 (GRCm39) E214* probably null Het
Angpt2 G T 8: 18,755,673 (GRCm39) P265T probably benign Het
Apc2 C A 10: 80,143,443 (GRCm39) probably null Het
Arpc1b C T 5: 145,062,729 (GRCm39) P250S probably damaging Het
Atxn10 T G 15: 85,249,513 (GRCm39) V115G probably benign Het
Bace2 T A 16: 97,213,336 (GRCm39) C100S probably damaging Het
Bpifb9b T C 2: 154,151,524 (GRCm39) S82P possibly damaging Het
Cacna1g A G 11: 94,300,300 (GRCm39) S2157P probably damaging Het
Cacnb4 T A 2: 52,359,598 (GRCm39) I104L probably damaging Het
Ccdc121 T C 5: 31,643,402 (GRCm39) I44T possibly damaging Het
Cdh6 T A 15: 13,057,587 (GRCm39) M245L probably benign Het
Celsr1 A C 15: 85,914,748 (GRCm39) V1075G probably benign Het
Cfap61 T C 2: 145,987,393 (GRCm39) F1065L probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Colgalt1 T C 8: 72,070,330 (GRCm39) probably null Het
Ctnnal1 A T 4: 56,835,350 (GRCm39) V309D probably benign Het
D7Ertd443e T A 7: 133,868,527 (GRCm39) E659D probably damaging Het
Dab2 T C 15: 6,464,696 (GRCm39) Y516H possibly damaging Het
Dnah14 T C 1: 181,580,127 (GRCm39) L3099P probably damaging Het
Frem3 A G 8: 81,341,520 (GRCm39) E1271G probably damaging Het
Grap2 A G 15: 80,530,444 (GRCm39) H188R probably benign Het
Grin2c T C 11: 115,148,245 (GRCm39) D344G possibly damaging Het
Hmcn2 T C 2: 31,225,448 (GRCm39) M119T probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifit1bl2 T A 19: 34,596,870 (GRCm39) N249Y possibly damaging Het
Igsf8 T A 1: 172,146,432 (GRCm39) Y36N probably damaging Het
Lrp12 G A 15: 39,735,985 (GRCm39) S649L probably damaging Het
Map2 T C 1: 66,453,473 (GRCm39) S788P probably damaging Het
Mast4 T C 13: 102,887,917 (GRCm39) D1164G probably damaging Het
Mcm9 A G 10: 53,488,921 (GRCm39) probably null Het
Myo5a G A 9: 75,054,156 (GRCm39) E355K probably benign Het
Myo9b T A 8: 71,743,194 (GRCm39) V85E probably damaging Het
Nbeal1 G A 1: 60,332,123 (GRCm39) probably null Het
Nlrx1 A T 9: 44,174,077 (GRCm39) W375R probably damaging Het
Pik3c2a A G 7: 116,016,686 (GRCm39) probably null Het
Plch2 A G 4: 155,085,275 (GRCm39) M272T probably benign Het
Plk4 T A 3: 40,764,815 (GRCm39) M603K probably benign Het
Rfx7 T A 9: 72,524,748 (GRCm39) V646E probably benign Het
Slc28a2b T C 2: 122,353,349 (GRCm39) S510P probably benign Het
Slc9a1 A G 4: 133,143,645 (GRCm39) H377R probably benign Het
Snrnp70 A C 7: 45,036,724 (GRCm39) Y61* probably null Het
Spatc1l T C 10: 76,399,892 (GRCm39) L138P probably damaging Het
Spink5 T C 18: 44,140,825 (GRCm39) probably null Het
Sptan1 T A 2: 29,892,250 (GRCm39) S1055T probably benign Het
Tas2r104 T A 6: 131,662,083 (GRCm39) M209L probably damaging Het
Tdrd12 C T 7: 35,228,672 (GRCm39) V17I probably damaging Het
Tmem129 C A 5: 33,815,126 (GRCm39) A16S probably benign Het
Tmtc1 T C 6: 148,164,381 (GRCm39) E584G probably damaging Het
Trank1 C A 9: 111,193,856 (GRCm39) H627N probably damaging Het
Trio T C 15: 27,852,031 (GRCm39) D820G possibly damaging Het
Trpt1 T A 19: 6,975,452 (GRCm39) N98K probably damaging Het
Ube4b A T 4: 149,429,069 (GRCm39) F857I probably damaging Het
Vmn2r45 A G 7: 8,475,021 (GRCm39) V669A probably damaging Het
Vmn2r71 A G 7: 85,273,681 (GRCm39) I832V probably damaging Het
Zbtb20 T A 16: 43,429,975 (GRCm39) probably null Het
Zfyve9 A C 4: 108,575,800 (GRCm39) M427R probably benign Het
Zfyve9 A T 4: 108,576,500 (GRCm39) F194I possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TACATTGAGCACGTGCACG -3'
(R):5'- ACAGACTCTAGGGTAAGGCTG -3'

Sequencing Primer
(F):5'- GGGCAGTTCCTGAATTCACTCAG -3'
(R):5'- TAGGTTTGTGGCTCACAG -3'
Posted On 2014-09-17