Incidental Mutation 'IGL02257:Hsd11b2'
| ID |
286635 |
| 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)
|
| Stock # |
IGL02257
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106245387-106250620 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106249854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 322
(V322I)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:vATP-synt_AC39
|
16 |
347 |
2.4e-116 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034363
AA Change: V322I
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000034363
Gene: ENSMUSG00000031891
AA Change: V322I
| Domain | Start | End | E-Value | Type |
|---|
|
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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
C |
T |
11: 116,486,535 (GRCm39) |
Q25* |
probably null |
Het |
| Adam8 |
A |
T |
7: 139,567,561 (GRCm39) |
V394D |
possibly damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,748,905 (GRCm39) |
F314S |
possibly damaging |
Het |
| Arsg |
T |
C |
11: 109,412,473 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
T |
G |
4: 140,733,400 (GRCm39) |
V958G |
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,252,226 (GRCm39) |
D218G |
probably benign |
Het |
| Cntnap4 |
T |
A |
8: 113,343,126 (GRCm39) |
L63Q |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,145,606 (GRCm39) |
T655A |
possibly damaging |
Het |
| Ddc |
A |
T |
11: 11,823,171 (GRCm39) |
L133* |
probably null |
Het |
| Fat4 |
C |
T |
3: 39,055,288 (GRCm39) |
A4169V |
probably benign |
Het |
| Gnpat |
T |
C |
8: 125,613,587 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
A |
G |
2: 57,254,536 (GRCm39) |
D678G |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,107,422 (GRCm39) |
D851G |
probably benign |
Het |
| Hsd17b3 |
G |
A |
13: 64,207,276 (GRCm39) |
T255M |
probably benign |
Het |
| Hsp90b1 |
T |
C |
10: 86,534,453 (GRCm39) |
S284G |
probably damaging |
Het |
| Med1 |
T |
A |
11: 98,071,096 (GRCm39) |
I69L |
probably damaging |
Het |
| Mmut |
C |
T |
17: 41,249,625 (GRCm39) |
T200I |
possibly damaging |
Het |
| Morn3 |
T |
G |
5: 123,175,788 (GRCm39) |
D200A |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,828,394 (GRCm39) |
V173A |
probably damaging |
Het |
| Myl6b |
T |
C |
10: 128,333,210 (GRCm39) |
|
probably benign |
Het |
| Nin |
A |
G |
12: 70,149,465 (GRCm39) |
V48A |
possibly damaging |
Het |
| Odr4 |
A |
T |
1: 150,262,155 (GRCm39) |
I95N |
probably damaging |
Het |
| Or10w1 |
G |
A |
19: 13,632,629 (GRCm39) |
V279I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Phlpp2 |
T |
A |
8: 110,646,731 (GRCm39) |
V529E |
possibly damaging |
Het |
| Pnlip |
G |
A |
19: 58,662,306 (GRCm39) |
V151I |
probably benign |
Het |
| Pus7 |
A |
C |
5: 23,967,459 (GRCm39) |
H247Q |
probably damaging |
Het |
| Setd6 |
T |
C |
8: 96,443,320 (GRCm39) |
Y188H |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,061,328 (GRCm39) |
S444P |
probably benign |
Het |
| Sox9 |
C |
A |
11: 112,675,811 (GRCm39) |
H333Q |
possibly damaging |
Het |
| Specc1 |
T |
A |
11: 62,009,243 (GRCm39) |
I333N |
probably damaging |
Het |
| Tmprss11e |
G |
A |
5: 86,872,039 (GRCm39) |
T59I |
probably damaging |
Het |
| Vmn2r93 |
A |
C |
17: 18,545,770 (GRCm39) |
|
probably benign |
Het |
| Vrk2 |
A |
T |
11: 26,484,266 (GRCm39) |
V163D |
probably damaging |
Het |
|
| Other mutations in Hsd11b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2015-04-16 |
Incidental Mutation