Incidental Mutation 'R8037:Dbh'
| ID |
618270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dbh
|
| Ensembl Gene |
ENSMUSG00000000889 |
| Gene Name |
dopamine beta hydroxylase |
| Synonyms |
|
| MMRRC Submission |
067474-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8037 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
27055519-27073216 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27055700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 58
(D58G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000910]
|
| AlphaFold |
Q64237 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000910
AA Change: D58G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: D58G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,243,904 (GRCm39) |
W1922C |
probably damaging |
Het |
| Acad11 |
T |
A |
9: 103,953,035 (GRCm39) |
I88N |
possibly damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,404,510 (GRCm39) |
C309S |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,771,676 (GRCm39) |
V1343E |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,992,161 (GRCm39) |
Y72N |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,946,776 (GRCm39) |
T2339A |
probably damaging |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,502,882 (GRCm39) |
V274A |
probably benign |
Het |
| Ccr8 |
T |
C |
9: 119,923,436 (GRCm39) |
F184L |
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,116,692 (GRCm39) |
|
probably null |
Het |
| Dhdds |
G |
A |
4: 133,724,158 (GRCm39) |
T52I |
probably benign |
Het |
| Dnmt1 |
A |
C |
9: 20,852,860 (GRCm39) |
V82G |
probably damaging |
Het |
| Efemp2 |
C |
T |
19: 5,530,141 (GRCm39) |
Q290* |
probably null |
Het |
| Eipr1 |
A |
G |
12: 28,914,676 (GRCm39) |
S277G |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,511 (GRCm39) |
I310V |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,394,658 (GRCm39) |
D423G |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,816,322 (GRCm39) |
N4018K |
possibly damaging |
Het |
| Gm12887 |
T |
A |
4: 121,472,887 (GRCm39) |
D85V |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,394,119 (GRCm39) |
V473A |
probably benign |
Het |
| Hnrnpu |
A |
T |
1: 178,159,917 (GRCm39) |
F388Y |
unknown |
Het |
| Hoxa5 |
A |
G |
6: 52,181,309 (GRCm39) |
S8P |
probably damaging |
Het |
| Ier5 |
A |
T |
1: 154,975,175 (GRCm39) |
M1K |
probably null |
Het |
| Ighv1-52 |
A |
G |
12: 115,109,210 (GRCm39) |
F83S |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,023,794 (GRCm39) |
D577G |
probably damaging |
Het |
| Lrrk1 |
A |
T |
7: 65,935,089 (GRCm39) |
M1010K |
probably benign |
Het |
| Mttp |
T |
G |
3: 137,796,883 (GRCm39) |
N873T |
probably damaging |
Het |
| Nphs2 |
A |
G |
1: 156,138,400 (GRCm39) |
R15G |
possibly damaging |
Het |
| Or4a70 |
A |
T |
2: 89,324,055 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,319 (GRCm39) |
T218A |
probably benign |
Het |
| Or8d6 |
T |
A |
9: 39,854,177 (GRCm39) |
V207D |
probably damaging |
Het |
| Pcdhga8 |
T |
C |
18: 37,860,071 (GRCm39) |
S376P |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,429,650 (GRCm39) |
N737S |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,336,509 (GRCm39) |
L209P |
possibly damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Rin1 |
T |
A |
19: 5,101,852 (GRCm39) |
L179Q |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,659,483 (GRCm39) |
M57K |
probably benign |
Het |
| Senp2 |
C |
T |
16: 21,832,888 (GRCm39) |
Q59* |
probably null |
Het |
| St8sia5 |
G |
A |
18: 77,336,238 (GRCm39) |
V224I |
possibly damaging |
Het |
| Sycp2 |
A |
T |
2: 178,045,571 (GRCm39) |
D16E |
probably damaging |
Het |
| Tab1 |
A |
G |
15: 80,044,471 (GRCm39) |
T500A |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,358,727 (GRCm39) |
D13G |
possibly damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,902,854 (GRCm39) |
F860L |
probably benign |
Het |
| Tg |
A |
G |
15: 66,560,724 (GRCm39) |
M1029V |
probably benign |
Het |
| Tnni2 |
A |
G |
7: 141,997,691 (GRCm39) |
R109G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,016,178 (GRCm39) |
K320R |
probably damaging |
Het |
| Vmn1r9 |
T |
A |
6: 57,047,988 (GRCm39) |
V21D |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,741,932 (GRCm39) |
F332S |
probably 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 |
|
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 |
|
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'- CCCACTGGACAGGCATAAATG -3'
(R):5'- AGGACTCACCGCAAAGTAGG -3'
Sequencing Primer
(F):5'- GCTCATCCCTGCCATGCAAG -3'
(R):5'- TCACCGCAAAGTAGGCCCTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation