Incidental Mutation 'R0254:Hsd11b2'
ID 34570
Institutional Source Beutler Lab
Gene Symbol Hsd11b2
Ensembl Gene ENSMUSG00000031891
Gene Name hydroxysteroid 11-beta dehydrogenase 2
Synonyms 11HSD2, 11(beta)-HSD2
MMRRC Submission 038485-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0254 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 105518755-105523988 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105523067 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 270 (V270E)
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

Pfam:vATP-synt_AC39 16 347 2.4e-116 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000034363
AA Change: V270E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034363
Gene: ENSMUSG00000031891
AA Change: V270E

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
Meta Mutation Damage Score 0.6646 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 100% (100/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,952,404 (GRCm38) M252L probably benign Het
Abca6 A G 11: 110,236,789 (GRCm38) V314A probably benign Het
Abcb1b A T 5: 8,827,409 (GRCm38) E656D probably benign Het
Abhd4 T C 14: 54,263,234 (GRCm38) I160T probably benign Het
Aco2 T C 15: 81,889,356 (GRCm38) V32A probably damaging Het
Actl6b A G 5: 137,554,144 (GRCm38) probably benign Het
Akap13 T C 7: 75,736,604 (GRCm38) probably benign Het
Alpk3 A T 7: 81,076,974 (GRCm38) T136S probably benign Het
Ap1g1 G T 8: 109,803,117 (GRCm38) M56I probably benign Het
Arid2 C T 15: 96,370,571 (GRCm38) T855I probably damaging Het
Asprv1 T C 6: 86,629,095 (GRCm38) F308L probably damaging Het
Ass1 A T 2: 31,514,819 (GRCm38) N371Y probably damaging Het
Atp11b T A 3: 35,812,110 (GRCm38) M378K possibly damaging Het
Atp1a3 T C 7: 24,981,512 (GRCm38) probably benign Het
Blk C A 14: 63,380,804 (GRCm38) A218S probably benign Het
C4b T A 17: 34,734,776 (GRCm38) T953S probably benign Het
Cdadc1 T C 14: 59,575,907 (GRCm38) probably benign Het
Cdca2 C A 14: 67,677,178 (GRCm38) L877F probably damaging Het
Ceacam10 G T 7: 24,778,308 (GRCm38) V83L probably damaging Het
Cep290 A T 10: 100,514,574 (GRCm38) I677F probably benign Het
Clip1 A T 5: 123,617,332 (GRCm38) probably benign Het
Col11a2 G T 17: 34,064,803 (GRCm38) probably benign Het
Coro1c A T 5: 113,845,252 (GRCm38) V405D probably benign Het
Crebrf A G 17: 26,739,594 (GRCm38) T13A probably benign Het
Cspg4 A G 9: 56,897,410 (GRCm38) E1835G probably damaging Het
Cubn T C 2: 13,424,694 (GRCm38) N1332S probably benign Het
Cubn T C 2: 13,440,514 (GRCm38) T1014A possibly damaging Het
Cubn A T 2: 13,476,035 (GRCm38) probably null Het
Efnb1 T C X: 99,137,028 (GRCm38) probably benign Het
Elf2 G T 3: 51,308,190 (GRCm38) P33Q probably damaging Het
Fap C T 2: 62,503,402 (GRCm38) G633D probably damaging Het
Gm10288 T C 3: 146,838,920 (GRCm38) noncoding transcript Het
Gm14139 G A 2: 150,191,864 (GRCm38) R35K possibly damaging Het
Gm7714 A T 5: 88,282,371 (GRCm38) H42L possibly damaging Het
Got2 T C 8: 95,869,538 (GRCm38) N318S probably benign Het
Guk1 A T 11: 59,186,028 (GRCm38) F76L probably damaging Het
H2-K1 A T 17: 33,996,665 (GRCm38) probably benign Het
Helz2 C A 2: 181,232,759 (GRCm38) G1981C probably damaging Het
Hinfp G A 9: 44,298,239 (GRCm38) H250Y probably damaging Het
Hnrnpm C T 17: 33,652,268 (GRCm38) probably null Het
Igbp1b A T 6: 138,658,203 (GRCm38) M81K probably damaging Het
Kif11 A G 19: 37,411,509 (GRCm38) T815A probably benign Het
Kit G A 5: 75,620,921 (GRCm38) V337I probably benign Het
Klf11 T C 12: 24,653,583 (GRCm38) S6P probably damaging Het
Klk13 T C 7: 43,723,821 (GRCm38) V193A probably benign Het
Krt73 T A 15: 101,799,889 (GRCm38) probably benign Het
L1td1 T A 4: 98,737,182 (GRCm38) L538* probably null Het
Macf1 A G 4: 123,432,779 (GRCm38) L2061P probably damaging Het
Mcm2 A G 6: 88,884,016 (GRCm38) I900T probably damaging Het
Med16 A T 10: 79,900,200 (GRCm38) N371K possibly damaging Het
Mepce A C 5: 137,785,436 (GRCm38) D209E possibly damaging Het
Mrc2 C G 11: 105,347,866 (GRCm38) P1249R probably benign Het
Mx2 A T 16: 97,556,095 (GRCm38) I463L probably benign Het
Naaa A T 5: 92,265,135 (GRCm38) N73K probably damaging Het
Nags T A 11: 102,147,945 (GRCm38) L404Q probably damaging Het
Neb A G 2: 52,243,390 (GRCm38) Y3379H probably damaging Het
Nhsl1 A G 10: 18,472,985 (GRCm38) E120G probably damaging Het
Olfr1276 A C 2: 111,257,121 (GRCm38) N2T probably benign Het
Olfr561 C A 7: 102,774,869 (GRCm38) S115* probably null Het
Olfr615 T A 7: 103,560,622 (GRCm38) Y48* probably null Het
Olfr643 T C 7: 104,059,521 (GRCm38) H27R probably benign Het
Olfr736 T C 14: 50,393,079 (GRCm38) S108P probably damaging Het
Pcnt A G 10: 76,392,580 (GRCm38) F1584L probably benign Het
Pdgfra G A 5: 75,167,935 (GRCm38) V243I probably damaging Het
Polr2a T C 11: 69,743,671 (GRCm38) I689V possibly damaging Het
Ppfia4 C A 1: 134,324,224 (GRCm38) probably benign Het
Prmt8 C A 6: 127,711,808 (GRCm38) V200L probably damaging Het
Prpf8 T A 11: 75,506,362 (GRCm38) I2007N possibly damaging Het
Ptpn6 T C 6: 124,728,150 (GRCm38) E230G probably damaging Het
R3hcc1l G A 19: 42,563,148 (GRCm38) V195I probably damaging Het
Rb1cc1 C T 1: 6,262,847 (GRCm38) T1330I probably damaging Het
Reep3 G T 10: 67,021,796 (GRCm38) T172N probably benign Het
Rfwd3 A G 8: 111,294,023 (GRCm38) V236A probably benign Het
Rgs22 T C 15: 36,104,552 (GRCm38) I121V probably damaging Het
Robo1 T A 16: 72,664,170 (GRCm38) F11I probably benign Het
Rsrc2 A G 5: 123,740,847 (GRCm38) probably benign Het
Rubcn A G 16: 32,847,946 (GRCm38) V117A probably benign Het
Scamp1 T G 13: 94,210,580 (GRCm38) N192T probably benign Het
Scn8a T A 15: 101,018,364 (GRCm38) I1218N probably damaging Het
Serinc1 A G 10: 57,523,208 (GRCm38) S200P probably damaging Het
Serpinb9f T A 13: 33,334,591 (GRCm38) F358Y probably damaging Het
Slc12a5 T C 2: 164,997,245 (GRCm38) probably null Het
Slc5a4b T C 10: 76,070,628 (GRCm38) M386V possibly damaging Het
Smarca5 A G 8: 80,704,700 (GRCm38) F963L probably benign Het
Smchd1 A T 17: 71,411,891 (GRCm38) F828I probably benign Het
Stab2 G T 10: 86,897,960 (GRCm38) Q1333K probably benign Het
Svop T C 5: 114,038,539 (GRCm38) S349G probably benign Het
Tdrd1 G A 19: 56,842,566 (GRCm38) S271N probably benign Het
Tec G A 5: 72,783,738 (GRCm38) P159S probably benign Het
Tec T C 5: 72,763,556 (GRCm38) probably benign Het
Tfip11 G A 5: 112,335,655 (GRCm38) M645I probably benign Het
Thap12 A T 7: 98,715,281 (GRCm38) T219S probably benign Het
Tmem87a C T 2: 120,375,507 (GRCm38) R329H probably damaging Het
Tpsab1 A G 17: 25,343,745 (GRCm38) Y227H probably damaging Het
Urah G A 7: 140,837,689 (GRCm38) V114I probably benign Het
Wnt5a G A 14: 28,522,854 (GRCm38) E353K probably damaging Het
Zfp101 A T 17: 33,380,978 (GRCm38) H601Q possibly damaging Het
Other mutations in Hsd11b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Hsd11b2 APN 8 105,523,127 (GRCm38) missense probably benign 0.06
IGL01620:Hsd11b2 APN 8 105,522,897 (GRCm38) missense probably benign 0.04
IGL02257:Hsd11b2 APN 8 105,523,222 (GRCm38) missense probably benign 0.04
IGL02655:Hsd11b2 APN 8 105,522,328 (GRCm38) missense probably benign 0.00
gilberto UTSW 8 105,523,067 (GRCm38) missense possibly damaging 0.96
R1082:Hsd11b2 UTSW 8 105,523,151 (GRCm38) missense probably damaging 0.99
R2050:Hsd11b2 UTSW 8 105,523,360 (GRCm38) missense probably benign 0.27
R4135:Hsd11b2 UTSW 8 105,523,166 (GRCm38) missense probably benign
R5294:Hsd11b2 UTSW 8 105,523,297 (GRCm38) missense probably benign 0.01
R5598:Hsd11b2 UTSW 8 105,522,511 (GRCm38) missense probably benign
R5780:Hsd11b2 UTSW 8 105,522,155 (GRCm38) missense probably damaging 1.00
R6058:Hsd11b2 UTSW 8 105,523,334 (GRCm38) missense possibly damaging 0.59
R6867:Hsd11b2 UTSW 8 105,522,317 (GRCm38) missense probably benign 0.00
R7535:Hsd11b2 UTSW 8 105,519,123 (GRCm38) missense probably damaging 0.99
R7786:Hsd11b2 UTSW 8 105,518,874 (GRCm38) missense probably damaging 0.99
R8006:Hsd11b2 UTSW 8 105,519,103 (GRCm38) missense possibly damaging 0.95
R8110:Hsd11b2 UTSW 8 105,522,634 (GRCm38) missense probably damaging 0.98
R8889:Hsd11b2 UTSW 8 105,522,631 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-05-09