Incidental Mutation 'R4475:Dbh'
ID |
330512 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dbh
|
Ensembl Gene |
ENSMUSG00000000889 |
Gene Name |
dopamine beta hydroxylase |
Synonyms |
|
MMRRC Submission |
041732-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4475 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
27055519-27073216 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 27070984 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000910]
|
AlphaFold |
Q64237 |
Predicted Effect |
probably null
Transcript: ENSMUST00000000910
|
SMART Domains |
Protein: ENSMUSP00000000910 Gene: ENSMUSG00000000889
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
97% (38/39) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630010A05Rik |
T |
A |
16: 14,407,227 (GRCm39) |
I52N |
possibly damaging |
Het |
Adgra3 |
A |
T |
5: 50,159,240 (GRCm39) |
Y337N |
probably damaging |
Het |
Aga |
T |
C |
8: 53,964,871 (GRCm39) |
L11P |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,188,426 (GRCm39) |
F1947L |
probably benign |
Het |
Atp6v1c1 |
T |
C |
15: 38,677,817 (GRCm39) |
I114T |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,094,544 (GRCm39) |
T904A |
probably damaging |
Het |
Dgkh |
T |
C |
14: 78,827,318 (GRCm39) |
D858G |
possibly damaging |
Het |
Dlx5 |
T |
C |
6: 6,881,663 (GRCm39) |
Y75C |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
Epg5 |
A |
C |
18: 77,991,723 (GRCm39) |
D140A |
probably benign |
Het |
Esr2 |
C |
T |
12: 76,180,716 (GRCm39) |
D402N |
probably benign |
Het |
Hells |
A |
G |
19: 38,933,973 (GRCm39) |
T265A |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hspa8 |
T |
A |
9: 40,715,442 (GRCm39) |
|
probably benign |
Het |
Ighm |
A |
G |
12: 113,384,513 (GRCm39) |
|
probably benign |
Het |
Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
Nrxn1 |
G |
T |
17: 91,009,410 (GRCm39) |
N388K |
probably damaging |
Het |
Oprk1 |
T |
A |
1: 5,672,824 (GRCm39) |
Y320* |
probably null |
Het |
Or10j2 |
T |
C |
1: 173,098,480 (GRCm39) |
V246A |
probably damaging |
Het |
Or9s27 |
T |
C |
1: 92,516,301 (GRCm39) |
V83A |
probably benign |
Het |
Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,235,170 (GRCm39) |
L809P |
probably damaging |
Het |
Plek |
C |
T |
11: 16,935,528 (GRCm39) |
|
probably null |
Het |
Prg4 |
T |
C |
1: 150,330,610 (GRCm39) |
|
probably benign |
Het |
Rrs1 |
T |
C |
1: 9,615,810 (GRCm39) |
L21P |
probably damaging |
Het |
Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
Sim2 |
T |
C |
16: 93,926,650 (GRCm39) |
S625P |
probably benign |
Het |
Smpd5 |
T |
C |
15: 76,178,926 (GRCm39) |
L98P |
probably damaging |
Het |
Srpra |
A |
G |
9: 35,124,155 (GRCm39) |
K34E |
possibly damaging |
Het |
Tbc1d2 |
A |
G |
4: 46,609,080 (GRCm39) |
V719A |
possibly damaging |
Het |
Tmem52b |
C |
T |
6: 129,491,219 (GRCm39) |
H37Y |
probably benign |
Het |
Tnip1 |
A |
G |
11: 54,830,422 (GRCm39) |
|
probably null |
Het |
Trim3 |
A |
G |
7: 105,267,009 (GRCm39) |
Y457H |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,407,975 (GRCm39) |
I2600T |
possibly damaging |
Het |
Vmn2r129 |
T |
G |
4: 156,691,085 (GRCm39) |
|
noncoding transcript |
Het |
Zfp365 |
C |
A |
10: 67,724,750 (GRCm39) |
K379N |
possibly damaging |
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 |
IGL02297:Dbh
|
APN |
2 |
27,067,748 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAACCCCATGAGTGTGTGG -3'
(R):5'- TACAGAGGCTGTCCATGCTG -3'
Sequencing Primer
(F):5'- TGGCTCTATCCTGGGGAC -3'
(R):5'- GCTGTCCATGCTGGGTTCC -3'
|
Posted On |
2015-07-21 |