Incidental Mutation 'R7591:Dbh'
ID |
587387 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dbh
|
Ensembl Gene |
ENSMUSG00000000889 |
Gene Name |
dopamine beta hydroxylase |
Synonyms |
|
MMRRC Submission |
045638-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7591 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
27055519-27073216 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27060522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 233
(T233A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000910]
|
AlphaFold |
Q64237 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000910
AA Change: T233A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000910 Gene: ENSMUSG00000000889 AA Change: T233A
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: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (45/45) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccne2 |
T |
C |
4: 11,201,393 (GRCm39) |
I307T |
probably benign |
Het |
Chrm3 |
A |
T |
13: 9,927,349 (GRCm39) |
C562* |
probably null |
Het |
Cldn11 |
A |
T |
3: 31,204,436 (GRCm39) |
E46D |
probably benign |
Het |
Cyp4a14 |
A |
G |
4: 115,347,157 (GRCm39) |
|
probably null |
Het |
Dennd2c |
T |
A |
3: 103,040,661 (GRCm39) |
Y309N |
possibly damaging |
Het |
Dnttip2 |
T |
A |
3: 122,070,117 (GRCm39) |
L444* |
probably null |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Epop |
A |
T |
11: 97,519,158 (GRCm39) |
V317E |
probably damaging |
Het |
Eppk1 |
T |
C |
15: 75,991,797 (GRCm39) |
T1695A |
possibly damaging |
Het |
Fam149a |
T |
A |
8: 45,803,472 (GRCm39) |
I421F |
possibly damaging |
Het |
Impa2 |
T |
C |
18: 67,451,480 (GRCm39) |
L258P |
probably damaging |
Het |
Itga1 |
G |
A |
13: 115,119,315 (GRCm39) |
R855W |
probably damaging |
Het |
Kcnh5 |
T |
C |
12: 75,054,541 (GRCm39) |
T468A |
probably benign |
Het |
Kif11 |
A |
G |
19: 37,372,711 (GRCm39) |
K33R |
probably damaging |
Het |
Lamb1 |
C |
A |
12: 31,376,647 (GRCm39) |
A1657E |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,410,393 (GRCm39) |
V387A |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,561,297 (GRCm39) |
T734A |
probably benign |
Het |
Nphp3 |
T |
C |
9: 103,895,477 (GRCm39) |
|
probably null |
Het |
Nutm2 |
A |
G |
13: 50,627,903 (GRCm39) |
I461M |
probably damaging |
Het |
Or14p1 |
T |
C |
13: 65,292,462 (GRCm39) |
F130L |
probably benign |
Het |
Or4p7 |
G |
A |
2: 88,222,220 (GRCm39) |
V210M |
probably benign |
Het |
Or4s2 |
A |
C |
2: 88,473,811 (GRCm39) |
K233N |
probably damaging |
Het |
Or5b112 |
A |
G |
19: 13,319,619 (GRCm39) |
S166G |
probably benign |
Het |
Pigo |
T |
C |
4: 43,025,093 (GRCm39) |
N2S |
probably benign |
Het |
Plcl1 |
A |
T |
1: 55,736,608 (GRCm39) |
I650L |
probably benign |
Het |
Ppcdc |
A |
T |
9: 57,342,262 (GRCm39) |
V20D |
probably damaging |
Het |
Pramel27 |
A |
T |
4: 143,577,481 (GRCm39) |
I88L |
probably benign |
Het |
Rhobtb2 |
A |
G |
14: 70,037,190 (GRCm39) |
V78A |
possibly damaging |
Het |
Rp1l1 |
T |
C |
14: 64,263,558 (GRCm39) |
V226A |
probably damaging |
Het |
Scrt1 |
C |
A |
15: 76,403,694 (GRCm39) |
G99C |
probably damaging |
Het |
Skint9 |
A |
T |
4: 112,248,147 (GRCm39) |
I199N |
probably damaging |
Het |
Slc5a4a |
T |
C |
10: 75,983,501 (GRCm39) |
|
probably benign |
Het |
Smad3 |
C |
T |
9: 63,561,999 (GRCm39) |
W326* |
probably null |
Het |
Spata18 |
A |
T |
5: 73,829,759 (GRCm39) |
I305F |
|
Het |
Spata31h1 |
C |
A |
10: 82,128,046 (GRCm39) |
V1655F |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Syne3 |
A |
G |
12: 104,906,863 (GRCm39) |
|
probably null |
Het |
Trim69 |
G |
A |
2: 121,998,454 (GRCm39) |
R142Q |
probably benign |
Het |
Vmn1r40 |
A |
T |
6: 89,691,755 (GRCm39) |
I191F |
probably benign |
Het |
Vmn2r16 |
T |
A |
5: 109,510,223 (GRCm39) |
D535E |
probably damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,420,317 (GRCm39) |
E742G |
probably damaging |
Het |
Zfp442 |
A |
T |
2: 150,250,092 (GRCm39) |
Y603* |
probably null |
Het |
Zp1 |
T |
C |
19: 10,896,835 (GRCm39) |
N68S |
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 |
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'- TGGAAGAGCCATTTCAGTCG -3'
(R):5'- GCTCCAGGCAGGTAAGATAG -3'
Sequencing Primer
(F):5'- AGAGCCATTTCAGTCGCTGGAG -3'
(R):5'- TAGGAAATATTCATCTCAGGGGCCC -3'
|
Posted On |
2019-10-24 |