Incidental Mutation 'R8110:Hsd11b2'
ID 630812
Institutional Source Beutler Lab
Gene Symbol Hsd11b2
Ensembl Gene ENSMUSG00000031891
Gene Name hydroxysteroid 11-beta dehydrogenase 2
Synonyms 11(beta)-HSD2, 11HSD2
MMRRC Submission 067539-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8110 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106245387-106250620 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106249266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 214 (I214V)
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: I214V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034363
Gene: ENSMUSG00000031891
AA Change: I214V

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 93.1%
Validation Efficiency 99% (73/74)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd45 T C 1: 160,978,889 (GRCm39) probably null Het
Appl1 C A 14: 26,649,751 (GRCm39) G592* probably null Het
Arfgef2 T A 2: 166,720,464 (GRCm39) M1501K probably benign Het
Calcrl C T 2: 84,169,683 (GRCm39) A333T probably damaging Het
Cd200r3 T A 16: 44,771,835 (GRCm39) I33N probably benign Het
Ceacam15 A G 7: 16,407,334 (GRCm39) L61P probably benign Het
Cfap69 T A 5: 5,632,515 (GRCm39) H827L possibly damaging Het
Csmd3 T A 15: 47,507,666 (GRCm39) E2780V probably damaging Het
Cyp2u1 G A 3: 131,087,303 (GRCm39) T426I probably damaging Het
Eefsec A C 6: 88,353,312 (GRCm39) I119S probably damaging Het
Fem1b T C 9: 62,703,550 (GRCm39) N570S probably damaging Het
Fmo9 A G 1: 166,491,095 (GRCm39) M461T probably benign Het
Fryl A G 5: 73,290,620 (GRCm39) Y95H probably benign Het
Fsip2 T C 2: 82,789,017 (GRCm39) I346T probably benign Het
Fto T C 8: 92,211,818 (GRCm39) F381S probably damaging Het
Gabbr1 G C 17: 37,359,475 (GRCm39) S150T probably benign Het
Galnt9 G T 5: 110,763,339 (GRCm39) W448L probably damaging Het
Gcnt2 G T 13: 41,071,198 (GRCm39) probably benign Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Hectd4 A G 5: 121,471,012 (GRCm39) Y2633C possibly damaging Het
Hspa12a T A 19: 58,809,445 (GRCm39) E217V possibly damaging Het
Itih2 A G 2: 10,101,948 (GRCm39) F845L probably damaging Het
Kcnn3 T A 3: 89,568,540 (GRCm39) L606H probably damaging Het
Krt6b G A 15: 101,588,577 (GRCm39) R28C probably damaging Het
Lama2 T A 10: 26,866,866 (GRCm39) D2876V probably damaging Het
Lmbrd2 T C 15: 9,175,279 (GRCm39) S397P probably damaging Het
Lmf2 C T 15: 89,236,561 (GRCm39) probably null Het
Lrp2 A G 2: 69,336,797 (GRCm39) I1325T probably benign Het
Ltbp2 A T 12: 84,850,676 (GRCm39) C879* probably null Het
Map3k1 A G 13: 111,891,847 (GRCm39) V1136A probably damaging Het
Mettl3 G T 14: 52,537,709 (GRCm39) H84N probably benign Het
Mia2 A G 12: 59,155,873 (GRCm39) probably null Het
Mlip G T 9: 77,146,861 (GRCm39) T92K probably damaging Het
Nalcn T A 14: 123,702,113 (GRCm39) Y466F probably benign Het
Nav2 T A 7: 49,201,698 (GRCm39) L235* probably null Het
Nbn T C 4: 15,981,588 (GRCm39) V560A probably benign Het
Ncln A T 10: 81,328,987 (GRCm39) Y144N possibly damaging Het
Nfe2l2 A C 2: 75,509,765 (GRCm39) D18E probably benign Het
Or10aa3 G A 1: 173,878,091 (GRCm39) A51T probably benign Het
Or12d2 A G 17: 37,624,604 (GRCm39) F224L probably benign Het
Or1ak2 T C 2: 36,827,721 (GRCm39) C197R possibly damaging Het
Or5w11 T C 2: 87,458,951 (GRCm39) I48T possibly damaging Het
Otop3 A T 11: 115,230,221 (GRCm39) M33L probably benign Het
Pate7 T C 9: 35,689,329 (GRCm39) *84W probably null Het
Pdzd2 G A 15: 12,373,592 (GRCm39) S2181L probably benign Het
Phf14 T C 6: 11,953,422 (GRCm39) I387T possibly damaging Het
Prb1c C T 6: 132,338,531 (GRCm39) G229D unknown Het
Prdm9 T A 17: 15,774,960 (GRCm39) N318Y probably damaging Het
Proca1 A G 11: 78,095,737 (GRCm39) D123G probably damaging Het
Prune2 G A 19: 17,098,083 (GRCm39) G1196S probably benign Het
Psd3 T A 8: 68,573,708 (GRCm39) S158C probably damaging Het
Rps18 A G 17: 34,174,110 (GRCm39) V15A probably benign Het
Sanbr G T 11: 23,526,764 (GRCm39) T696N probably benign Het
Sharpin C A 15: 76,231,965 (GRCm39) R271L possibly damaging Het
Smad5 C A 13: 56,871,701 (GRCm39) Q99K probably damaging Het
Sox5 T C 6: 144,062,200 (GRCm39) M151V possibly damaging Het
Sphkap A T 1: 83,256,492 (GRCm39) F419Y possibly damaging Het
Tbx20 T A 9: 24,636,821 (GRCm39) Y422F probably damaging Het
Tcirg1 A C 19: 3,949,099 (GRCm39) F397V probably damaging Het
Tex36 G A 7: 133,197,012 (GRCm39) S35F possibly damaging Het
Tsen54 G T 11: 115,705,760 (GRCm39) A26S unknown Het
Usp50 T A 2: 126,622,250 (GRCm39) probably null Het
Vmn2r5 A T 3: 64,398,709 (GRCm39) F757I probably benign Het
Zbbx T C 3: 75,062,749 (GRCm39) T3A possibly damaging Het
Zfp28 T A 7: 6,392,828 (GRCm39) M168K probably benign Het
Zfp568 G T 7: 29,722,551 (GRCm39) G499W probably damaging Het
Zfp7 C G 15: 76,775,131 (GRCm39) P391R 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
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
R8889:Hsd11b2 UTSW 8 106,249,263 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGATCACCTGAACCTTCCC -3'
(R):5'- GTGTCCATAAGCAGTGCTATTG -3'

Sequencing Primer
(F):5'- GATCACCTGAACCTTCCCTCCTG -3'
(R):5'- CAGTGCTATTGCTGCCTTGGAG -3'
Posted On 2020-06-30