Incidental Mutation 'R6817:Ddc'
| ID |
537388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddc
|
| Ensembl Gene |
ENSMUSG00000020182 |
| Gene Name |
dopa decarboxylase |
| Synonyms |
Aadc, aromatic L-amino acid decarboxylase |
| MMRRC Submission |
044929-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6817 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
11764101-11848144 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11774854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 346
(Y346H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066237]
[ENSMUST00000109659]
[ENSMUST00000178704]
|
| AlphaFold |
O88533 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066237
AA Change: Y346H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000068525
Gene: ENSMUSG00000020182
AA Change: Y346H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyridoxal_deC
|
35 |
414 |
8.2e-173 |
PFAM |
|
Pfam:Beta_elim_lyase
|
81 |
401 |
2.3e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109659
AA Change: Y346H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105286
Gene: ENSMUSG00000020182
AA Change: Y346H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyridoxal_deC
|
35 |
414 |
4.8e-174 |
PFAM |
|
Pfam:Beta_elim_lyase
|
82 |
403 |
4.4e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178704
AA Change: Y346H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136467
Gene: ENSMUSG00000020182
AA Change: Y346H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyridoxal_deC
|
35 |
414 |
8.2e-173 |
PFAM |
|
Pfam:Beta_elim_lyase
|
81 |
401 |
2.3e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.3571 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit preweaning phenotype. Mice homozygous for a different knock-in allele exhibit partial prenatal lethality, decreased body size, postnatal growth retardation, hypoactivity, increased anxiety, tremors, decreased heart rate and decreased dopamine levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Arhgap21 |
A |
C |
2: 20,885,107 (GRCm39) |
L690R |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,656,637 (GRCm39) |
N1549S |
probably benign |
Het |
| Cast |
T |
C |
13: 74,847,277 (GRCm39) |
T670A |
possibly damaging |
Het |
| Cd109 |
A |
G |
9: 78,622,237 (GRCm39) |
D1409G |
probably benign |
Het |
| Cemip |
A |
G |
7: 83,637,200 (GRCm39) |
F311S |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,744,524 (GRCm39) |
I1210F |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cops5 |
G |
A |
1: 10,100,829 (GRCm39) |
L256F |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,402,027 (GRCm39) |
|
probably null |
Het |
| Dab1 |
A |
G |
4: 104,536,743 (GRCm39) |
K178E |
probably damaging |
Het |
| Dlg2 |
T |
G |
7: 91,614,872 (GRCm39) |
D225E |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,527,462 (GRCm39) |
I198F |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,049,807 (GRCm39) |
H155R |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,036,305 (GRCm39) |
H247R |
probably damaging |
Het |
| Esrp1 |
A |
G |
4: 11,357,552 (GRCm39) |
V355A |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,419 (GRCm39) |
M193V |
possibly damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,607,037 (GRCm39) |
T4A |
probably benign |
Het |
| Gm17175 |
T |
C |
14: 51,810,478 (GRCm39) |
N50D |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,173,931 (GRCm39) |
|
probably benign |
Het |
| Lpo |
T |
C |
11: 87,700,067 (GRCm39) |
N525D |
probably benign |
Het |
| Lrrc41 |
G |
A |
4: 115,946,502 (GRCm39) |
E406K |
possibly damaging |
Het |
| Lrrc59 |
G |
C |
11: 94,520,891 (GRCm39) |
D21H |
probably damaging |
Het |
| Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
| Mroh7 |
C |
T |
4: 106,571,312 (GRCm39) |
A14T |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,416,650 (GRCm39) |
S3199P |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,237,326 (GRCm39) |
Y270F |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 112,978,104 (GRCm39) |
T1273S |
probably benign |
Het |
| Nos2 |
A |
T |
11: 78,836,092 (GRCm39) |
E385V |
possibly damaging |
Het |
| Nsl1 |
T |
G |
1: 190,795,471 (GRCm39) |
|
probably null |
Het |
| Nup93 |
T |
C |
8: 95,041,310 (GRCm39) |
|
probably null |
Het |
| Or5d45 |
A |
T |
2: 88,153,107 (GRCm39) |
M314K |
probably benign |
Het |
| Pcna-ps2 |
T |
G |
19: 9,260,861 (GRCm39) |
M40R |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,377,407 (GRCm39) |
E148G |
probably damaging |
Het |
| Pirt |
A |
G |
11: 66,816,737 (GRCm39) |
E16G |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,148,944 (GRCm39) |
Y566H |
probably damaging |
Het |
| Psg17 |
A |
C |
7: 18,548,565 (GRCm39) |
V402G |
probably damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rassf7 |
A |
G |
7: 140,797,360 (GRCm39) |
E191G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,353,111 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
C |
T |
5: 53,221,370 (GRCm39) |
T272I |
probably damaging |
Het |
| Sos2 |
T |
C |
12: 69,664,935 (GRCm39) |
E332G |
probably benign |
Het |
| Spdye4c |
T |
C |
2: 128,438,430 (GRCm39) |
Y263H |
probably damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,704,793 (GRCm39) |
V42I |
probably benign |
Het |
| Trpv5 |
T |
A |
6: 41,634,941 (GRCm39) |
N463Y |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,595,061 (GRCm39) |
Q3831L |
probably benign |
Het |
| Wdr41 |
C |
A |
13: 95,133,812 (GRCm39) |
|
probably null |
Het |
| Zfand1 |
A |
G |
3: 10,405,884 (GRCm39) |
C246R |
probably benign |
Het |
|
| Other mutations in Ddc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01307:Ddc
|
APN |
11 |
11,789,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01336:Ddc
|
APN |
11 |
11,796,630 (GRCm39) |
splice site |
probably null |
|
|
IGL02257:Ddc
|
APN |
11 |
11,823,171 (GRCm39) |
nonsense |
probably null |
|
|
IGL02327:Ddc
|
APN |
11 |
11,813,739 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02516:Ddc
|
APN |
11 |
11,779,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02616:Ddc
|
APN |
11 |
11,830,645 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02888:Ddc
|
APN |
11 |
11,772,297 (GRCm39) |
splice site |
probably benign |
|
|
IGL03267:Ddc
|
APN |
11 |
11,826,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:Ddc
|
UTSW |
11 |
11,830,587 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1061:Ddc
|
UTSW |
11 |
11,779,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1173:Ddc
|
UTSW |
11 |
11,796,634 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1382:Ddc
|
UTSW |
11 |
11,774,856 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1549:Ddc
|
UTSW |
11 |
11,796,656 (GRCm39) |
splice site |
probably null |
|
|
R1583:Ddc
|
UTSW |
11 |
11,779,131 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1929:Ddc
|
UTSW |
11 |
11,785,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Ddc
|
UTSW |
11 |
11,765,292 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2034:Ddc
|
UTSW |
11 |
11,830,456 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2270:Ddc
|
UTSW |
11 |
11,785,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Ddc
|
UTSW |
11 |
11,785,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4449:Ddc
|
UTSW |
11 |
11,785,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4508:Ddc
|
UTSW |
11 |
11,769,393 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4799:Ddc
|
UTSW |
11 |
11,796,632 (GRCm39) |
splice site |
probably null |
|
|
R5307:Ddc
|
UTSW |
11 |
11,826,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6654:Ddc
|
UTSW |
11 |
11,830,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Ddc
|
UTSW |
11 |
11,769,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Ddc
|
UTSW |
11 |
11,774,870 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7784:Ddc
|
UTSW |
11 |
11,789,396 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8435:Ddc
|
UTSW |
11 |
11,814,902 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8550:Ddc
|
UTSW |
11 |
11,785,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9200:Ddc
|
UTSW |
11 |
11,765,388 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9303:Ddc
|
UTSW |
11 |
11,779,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9616:Ddc
|
UTSW |
11 |
11,772,288 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Ddc
|
UTSW |
11 |
11,830,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACGTGGCAGAGATGCTTAC -3'
(R):5'- AAATGTGTCCTGGGCATCCTG -3'
Sequencing Primer
(F):5'- GTGTGTGTGACAGCAACA -3'
(R):5'- GAGTCAGTTACCTTGAATGAGCCAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation