Incidental Mutation 'R0664:Hsd17b2'
| ID |
61948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsd17b2
|
| Ensembl Gene |
ENSMUSG00000031844 |
| Gene Name |
hydroxysteroid (17-beta) dehydrogenase 2 |
| Synonyms |
17 HSD type 2 |
| MMRRC Submission |
038849-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0664 (G1)
|
| Quality Score |
110 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
118428643-118485766 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118485440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 301
(V301A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034304]
|
| AlphaFold |
P51658 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034304
AA Change: V301A
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034304
Gene: ENSMUSG00000031844
AA Change: V301A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
Pfam:adh_short
|
84 |
279 |
1.3e-48 |
PFAM |
|
Pfam:KR
|
85 |
263 |
3.6e-7 |
PFAM |
|
Pfam:DUF1776
|
85 |
361 |
3.2e-13 |
PFAM |
|
Pfam:adh_short_C2
|
89 |
288 |
1.5e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality starting at E11.5 and placenta defects. The few mutants that survive to birth exhibit enlarged brain ventricles, cerebral cortex abnormalities and a single kidney. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| A530064D06Rik |
T |
C |
17: 48,473,759 (GRCm39) |
I53V |
probably benign |
Het |
| Abtb3 |
G |
A |
10: 85,224,234 (GRCm39) |
A348T |
possibly damaging |
Het |
| Agmo |
A |
T |
12: 37,302,571 (GRCm39) |
H136L |
probably damaging |
Het |
| B020004C17Rik |
G |
A |
14: 57,254,225 (GRCm39) |
R116H |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,544,458 (GRCm39) |
S1243P |
probably damaging |
Het |
| Champ1 |
G |
A |
8: 13,929,485 (GRCm39) |
V548M |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,364,002 (GRCm39) |
M3541L |
probably damaging |
Het |
| Emc9 |
A |
G |
14: 55,819,365 (GRCm39) |
L138P |
possibly damaging |
Het |
| Epcam |
T |
A |
17: 87,947,398 (GRCm39) |
Y51N |
possibly damaging |
Het |
| Gpr55 |
A |
T |
1: 85,868,739 (GRCm39) |
S281T |
probably benign |
Het |
| Grid2ip |
T |
A |
5: 143,349,732 (GRCm39) |
|
probably null |
Het |
| Hgfac |
G |
T |
5: 35,205,522 (GRCm39) |
V601F |
probably benign |
Het |
| Hlcs |
A |
G |
16: 94,032,170 (GRCm39) |
W545R |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,701,711 (GRCm39) |
L466I |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,676,063 (GRCm39) |
D1275G |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,768,011 (GRCm39) |
E5315* |
probably null |
Het |
| Nfam1 |
T |
C |
15: 82,899,139 (GRCm39) |
T176A |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,204,267 (GRCm39) |
F432S |
probably damaging |
Het |
| Or4c31 |
C |
T |
2: 88,292,515 (GRCm39) |
P296L |
probably damaging |
Het |
| Prmt5 |
G |
T |
14: 54,745,313 (GRCm39) |
T618K |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Serpinb7 |
A |
G |
1: 107,356,037 (GRCm39) |
D20G |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,758,467 (GRCm39) |
I515V |
probably benign |
Het |
| Stk26 |
T |
A |
X: 49,976,803 (GRCm39) |
Y283* |
probably null |
Het |
| Tanc1 |
A |
T |
2: 59,674,228 (GRCm39) |
K1778* |
probably null |
Het |
| Thada |
A |
G |
17: 84,644,257 (GRCm39) |
L1288P |
probably damaging |
Het |
| Ttbk2 |
C |
A |
2: 120,579,302 (GRCm39) |
V607F |
probably damaging |
Het |
|
| Other mutations in Hsd17b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Hsd17b2
|
APN |
8 |
118,485,410 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00907:Hsd17b2
|
APN |
8 |
118,461,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1506:Hsd17b2
|
UTSW |
8 |
118,429,004 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1627:Hsd17b2
|
UTSW |
8 |
118,428,909 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1822:Hsd17b2
|
UTSW |
8 |
118,485,488 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1930:Hsd17b2
|
UTSW |
8 |
118,485,643 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2055:Hsd17b2
|
UTSW |
8 |
118,428,913 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3159:Hsd17b2
|
UTSW |
8 |
118,485,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6536:Hsd17b2
|
UTSW |
8 |
118,428,921 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8074:Hsd17b2
|
UTSW |
8 |
118,485,440 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8310:Hsd17b2
|
UTSW |
8 |
118,469,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8875:Hsd17b2
|
UTSW |
8 |
118,469,101 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9713:Hsd17b2
|
UTSW |
8 |
118,485,342 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCTTTCACAAGCACCCATC -3'
(R):5'- TCTTCCCACGAAGTCACAGGGAAC -3'
Sequencing Primer
(F):5'- ATCTTTCCTAGCAGGAGGATTTC -3'
(R):5'- CTTAAAGCTCTCGGCGTGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation