Incidental Mutation 'R8398:Dbh'
| ID |
647694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dbh
|
| Ensembl Gene |
ENSMUSG00000000889 |
| Gene Name |
dopamine beta hydroxylase |
| Synonyms |
|
| MMRRC Submission |
067761-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8398 (G1)
|
| Quality Score |
186.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
27055519-27073216 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 27064910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 374
(V374M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000910]
|
| AlphaFold |
Q64237 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000910
AA Change: V374M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: V374M
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 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 |
|---|
| Adgrv1 |
T |
C |
13: 81,330,797 (GRCm39) |
D6086G |
probably damaging |
Het |
| Amh |
T |
C |
10: 80,641,394 (GRCm39) |
S105P |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,906,252 (GRCm39) |
Y256N |
probably damaging |
Het |
| Asap3 |
G |
A |
4: 135,961,704 (GRCm39) |
M271I |
probably benign |
Het |
| Bbof1 |
T |
C |
12: 84,475,188 (GRCm39) |
L459P |
probably damaging |
Het |
| Ccl21a |
T |
C |
4: 42,773,412 (GRCm39) |
T109A |
probably benign |
Het |
| Cnot6 |
C |
T |
11: 49,593,445 (GRCm39) |
R12Q |
probably damaging |
Het |
| D5Ertd579e |
G |
A |
5: 36,771,621 (GRCm39) |
Q925* |
probably null |
Het |
| Dvl2 |
T |
A |
11: 69,899,128 (GRCm39) |
L462Q |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,099,577 (GRCm39) |
R206C |
probably damaging |
Het |
| Gjd4 |
C |
T |
18: 9,280,326 (GRCm39) |
V251M |
possibly damaging |
Het |
| Glud1 |
A |
G |
14: 34,033,228 (GRCm39) |
D125G |
probably benign |
Het |
| Gm10428 |
T |
C |
11: 62,644,173 (GRCm39) |
I83T |
unknown |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Gm3045 |
A |
G |
13: 56,577,280 (GRCm39) |
T143A |
possibly damaging |
Het |
| Heatr6 |
A |
C |
11: 83,672,164 (GRCm39) |
E1057D |
probably benign |
Het |
| Hoxa9 |
T |
C |
6: 52,201,403 (GRCm39) |
T213A |
probably damaging |
Het |
| Hsd3b5 |
T |
A |
3: 98,526,720 (GRCm39) |
D242V |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,838,827 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
C |
T |
2: 40,591,819 (GRCm39) |
C3827Y |
|
Het |
| Mast2 |
A |
T |
4: 116,165,946 (GRCm39) |
S1261T |
probably damaging |
Het |
| Mex3b |
T |
A |
7: 82,518,842 (GRCm39) |
F386I |
probably benign |
Het |
| Mta1 |
T |
A |
12: 113,095,242 (GRCm39) |
M465K |
possibly damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,265,695 (GRCm39) |
F470L |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,487,883 (GRCm39) |
N400S |
probably benign |
Het |
| Ndnf |
T |
C |
6: 65,681,362 (GRCm39) |
V547A |
probably damaging |
Het |
| Noc3l |
A |
T |
19: 38,783,554 (GRCm39) |
D607E |
probably benign |
Het |
| Or5w14 |
A |
G |
2: 87,542,175 (GRCm39) |
V25A |
probably benign |
Het |
| Pcdha11 |
G |
A |
18: 37,146,116 (GRCm39) |
G736R |
possibly damaging |
Het |
| Pcgf3 |
A |
G |
5: 108,647,509 (GRCm39) |
N205S |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,520 (GRCm39) |
P455L |
possibly damaging |
Het |
| Psg27 |
T |
C |
7: 18,295,837 (GRCm39) |
T203A |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,672,939 (GRCm39) |
T889A |
probably benign |
Het |
| Sars1 |
C |
T |
3: 108,335,489 (GRCm39) |
|
probably null |
Het |
| Scrn2 |
G |
T |
11: 96,921,730 (GRCm39) |
V67L |
probably benign |
Het |
| Slc1a4 |
T |
C |
11: 20,257,982 (GRCm39) |
D380G |
probably damaging |
Het |
| Slc9a1 |
A |
T |
4: 133,146,814 (GRCm39) |
Q516L |
probably benign |
Het |
| Smc4 |
T |
C |
3: 68,933,184 (GRCm39) |
Y627H |
probably damaging |
Het |
| Spon2 |
G |
T |
5: 33,374,154 (GRCm39) |
H76Q |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Sppl2b |
CTGTCACA |
C |
10: 80,701,902 (GRCm39) |
|
probably null |
Het |
| Sugp1 |
A |
G |
8: 70,523,783 (GRCm39) |
Y550C |
probably damaging |
Het |
| Sun1 |
A |
G |
5: 139,222,408 (GRCm39) |
D558G |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,074,923 (GRCm39) |
E1134G |
probably damaging |
Het |
| Thbd |
C |
T |
2: 148,248,600 (GRCm39) |
V423I |
probably benign |
Het |
| V1rd19 |
C |
A |
7: 23,703,374 (GRCm39) |
S280* |
probably null |
Het |
| Zfp947 |
A |
T |
17: 22,365,102 (GRCm39) |
C191S |
probably benign |
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 |
|
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 |
|
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'- CCCATAGATGTGACAGGTGC -3'
(R):5'- ACTCAGACAACCTTGATTCCAG -3'
Sequencing Primer
(F):5'- GTGCACTAAGAACAGCTTCTGGC -3'
(R):5'- AACCTTGATTCCAGGTCAGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation