Incidental Mutation 'IGL02297:Dbh'
| ID |
290203 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dbh
|
| Ensembl Gene |
ENSMUSG00000000889 |
| Gene Name |
dopamine beta hydroxylase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02297
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
27055519-27073216 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27067748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 457
(V457A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000910]
|
| AlphaFold |
Q64237 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000910
AA Change: V457A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: V457A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
|
DoH
|
88 |
177 |
6.62e-8 |
SMART |
|
Pfam:Cu2_monooxygen
|
217 |
345 |
4.9e-47 |
PFAM |
|
Pfam:Cu2_monoox_C
|
364 |
520 |
3.6e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155290
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. It is present in the synaptic vesicles of postganglionic sympathetic neurons and converts dopamine to norepinephrine. It exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are embryonic lethal probably due to cardiovascular failure, but survive if treated to replace their dopamine deficit. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aifm2 |
C |
T |
10: 61,571,327 (GRCm39) |
A287V |
possibly damaging |
Het |
| Aqr |
A |
G |
2: 113,980,962 (GRCm39) |
I273T |
probably benign |
Het |
| Arid3c |
T |
C |
4: 41,730,021 (GRCm39) |
E58G |
possibly damaging |
Het |
| Col5a3 |
G |
T |
9: 20,683,450 (GRCm39) |
T1574K |
unknown |
Het |
| Gm12888 |
T |
C |
4: 121,181,996 (GRCm39) |
E32G |
probably damaging |
Het |
| Gnaq |
A |
G |
19: 16,355,615 (GRCm39) |
D277G |
probably damaging |
Het |
| Il20 |
G |
A |
1: 130,836,145 (GRCm39) |
H133Y |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,316,478 (GRCm39) |
F58L |
possibly damaging |
Het |
| Lynx1 |
G |
T |
15: 74,623,491 (GRCm39) |
Q19K |
probably benign |
Het |
| Lyst |
G |
T |
13: 13,812,677 (GRCm39) |
E1030* |
probably null |
Het |
| Matn1 |
T |
A |
4: 130,679,575 (GRCm39) |
|
probably benign |
Het |
| Nav2 |
A |
T |
7: 49,243,977 (GRCm39) |
N2068I |
probably damaging |
Het |
| Or5b3 |
C |
T |
19: 13,388,839 (GRCm39) |
T302I |
probably benign |
Het |
| Or8g30 |
T |
C |
9: 39,229,999 (GRCm39) |
I304V |
possibly damaging |
Het |
| Slc25a23 |
G |
T |
17: 57,360,324 (GRCm39) |
Q273K |
probably benign |
Het |
| Slco4a1 |
T |
G |
2: 180,106,282 (GRCm39) |
C155G |
probably benign |
Het |
| Txnip |
T |
C |
3: 96,465,673 (GRCm39) |
V41A |
probably damaging |
Het |
| Wnt16 |
C |
A |
6: 22,297,990 (GRCm39) |
Y285* |
probably null |
Het |
|
| Other mutations in Dbh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01707:Dbh
|
APN |
2 |
27,055,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02169:Dbh
|
APN |
2 |
27,064,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02940:Dbh
|
APN |
2 |
27,058,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03100:Dbh
|
APN |
2 |
27,055,534 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03290:Dbh
|
APN |
2 |
27,064,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Dbh
|
UTSW |
2 |
27,060,584 (GRCm39) |
splice site |
probably benign |
|
|
R1908:Dbh
|
UTSW |
2 |
27,071,506 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1914:Dbh
|
UTSW |
2 |
27,058,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Dbh
|
UTSW |
2 |
27,058,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2328:Dbh
|
UTSW |
2 |
27,055,742 (GRCm39) |
missense |
probably benign |
|
|
R3406:Dbh
|
UTSW |
2 |
27,064,977 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4475:Dbh
|
UTSW |
2 |
27,070,984 (GRCm39) |
splice site |
probably null |
|
|
R4532:Dbh
|
UTSW |
2 |
27,067,343 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4533:Dbh
|
UTSW |
2 |
27,067,343 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4619:Dbh
|
UTSW |
2 |
27,064,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Dbh
|
UTSW |
2 |
27,067,243 (GRCm39) |
intron |
probably benign |
|
|
R6936:Dbh
|
UTSW |
2 |
27,062,809 (GRCm39) |
missense |
probably benign |
|
|
R7047:Dbh
|
UTSW |
2 |
27,055,622 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7121:Dbh
|
UTSW |
2 |
27,058,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7591:Dbh
|
UTSW |
2 |
27,060,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Dbh
|
UTSW |
2 |
27,061,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7814:Dbh
|
UTSW |
2 |
27,064,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8037:Dbh
|
UTSW |
2 |
27,055,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8231:Dbh
|
UTSW |
2 |
27,060,555 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8398:Dbh
|
UTSW |
2 |
27,064,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8525:Dbh
|
UTSW |
2 |
27,055,798 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8530:Dbh
|
UTSW |
2 |
27,058,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Dbh
|
UTSW |
2 |
27,060,328 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Dbh
|
UTSW |
2 |
27,067,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation