Incidental Mutation 'R4508:Ddc'
ID 331079
Institutional Source Beutler Lab
Gene Symbol Ddc
Ensembl Gene ENSMUSG00000020182
Gene Name dopa decarboxylase
Synonyms Aadc, aromatic L-amino acid decarboxylase
MMRRC Submission 041757-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4508 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 11764101-11848144 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to T at 11769393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066237] [ENSMUST00000066237] [ENSMUST00000109659] [ENSMUST00000109659] [ENSMUST00000178704]
AlphaFold O88533
Predicted Effect probably null
Transcript: ENSMUST00000066237
SMART Domains Protein: ENSMUSP00000068525
Gene: ENSMUSG00000020182

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 35 414 8.2e-173 PFAM
Pfam:Beta_elim_lyase 81 401 2.3e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000066237
SMART Domains Protein: ENSMUSP00000068525
Gene: ENSMUSG00000020182

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 35 414 8.2e-173 PFAM
Pfam:Beta_elim_lyase 81 401 2.3e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109659
SMART Domains Protein: ENSMUSP00000105286
Gene: ENSMUSG00000020182

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 35 414 4.8e-174 PFAM
Pfam:Beta_elim_lyase 82 403 4.4e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109659
SMART Domains Protein: ENSMUSP00000105286
Gene: ENSMUSG00000020182

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 35 414 4.8e-174 PFAM
Pfam:Beta_elim_lyase 82 403 4.4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136810
Predicted Effect probably null
Transcript: ENSMUST00000178704
SMART Domains Protein: ENSMUSP00000136467
Gene: ENSMUSG00000020182

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 35 414 8.2e-173 PFAM
Pfam:Beta_elim_lyase 81 401 2.3e-9 PFAM
Meta Mutation Damage Score 0.9479 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 100% (50/50)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A G 2: 150,746,275 (GRCm39) probably benign Het
Amer3 A G 1: 34,627,380 (GRCm39) R540G probably benign Het
Ank C T 15: 27,565,063 (GRCm39) R255W probably damaging Het
Ank3 A C 10: 69,728,200 (GRCm39) I629L probably damaging Het
Arhgap11a T A 2: 113,672,387 (GRCm39) N194Y probably damaging Het
BB014433 T C 8: 15,092,095 (GRCm39) T253A possibly damaging Het
Ccdc40 C A 11: 119,133,335 (GRCm39) D534E probably damaging Het
Chrna2 C A 14: 66,383,902 (GRCm39) N106K probably damaging Het
Clec2f C A 6: 128,997,474 (GRCm39) noncoding transcript Het
Cnnm2 G A 19: 46,865,709 (GRCm39) D766N probably benign Het
Ctc1 A G 11: 68,906,943 (GRCm39) probably null Het
Doc2g G A 19: 4,054,036 (GRCm39) probably benign Het
Ep400 T C 5: 110,851,481 (GRCm39) T1334A unknown Het
Epdr1 T C 13: 19,778,659 (GRCm39) I44V probably benign Het
Fbp2 A T 13: 62,989,679 (GRCm39) I209N probably damaging Het
Garin1b T C 6: 29,323,764 (GRCm39) V163A probably benign Het
Get1 T A 16: 95,946,899 (GRCm39) probably benign Het
Gldc G T 19: 30,120,807 (GRCm39) Q375K probably damaging Het
Hc A C 2: 34,903,077 (GRCm39) V1058G possibly damaging Het
Hydin T A 8: 111,245,886 (GRCm39) S2200T possibly damaging Het
Kcnc1 C T 7: 46,077,712 (GRCm39) P505S probably benign Het
Kifc3 T C 8: 95,834,048 (GRCm39) probably null Het
Klhl10 A G 11: 100,333,002 (GRCm39) E49G possibly damaging Het
Lhx5 T C 5: 120,573,499 (GRCm39) S161P probably damaging Het
Lilra6 G T 7: 3,915,028 (GRCm39) Y455* probably null Het
Lzts1 C T 8: 69,588,270 (GRCm39) R562H probably benign Het
Muc6 G A 7: 141,226,356 (GRCm39) probably benign Het
Ogfod2 C T 5: 124,251,317 (GRCm39) Q74* probably null Het
Or4f56 A C 2: 111,703,947 (GRCm39) D84E probably damaging Het
Or5h17 T A 16: 58,820,138 (GRCm39) V30E probably benign Het
Polr2a T C 11: 69,633,385 (GRCm39) probably null Het
Ptpre T C 7: 135,270,832 (GRCm39) L329P probably damaging Het
Rnh1 T C 7: 140,744,456 (GRCm39) Q73R possibly damaging Het
Scly G A 1: 91,236,047 (GRCm39) V100I possibly damaging Het
Sos2 A T 12: 69,682,435 (GRCm39) L261* probably null Het
Sp1 A C 15: 102,317,747 (GRCm39) Q422P possibly damaging Het
Sp3 A T 2: 72,800,741 (GRCm39) F468Y probably damaging Het
Tenm2 T C 11: 35,899,172 (GRCm39) Y2662C possibly damaging Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Tmprss2 C A 16: 97,371,627 (GRCm39) G281C probably damaging Het
Tmprss6 A T 15: 78,343,978 (GRCm39) Y183N probably damaging Het
Ttn A T 2: 76,580,684 (GRCm39) L23403Q probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn1r90 T C 7: 14,296,084 (GRCm39) N5D probably benign Het
Vps13b A G 15: 35,709,819 (GRCm39) D1922G possibly damaging Het
Other mutations in Ddc
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6817:Ddc UTSW 11 11,774,854 (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'- GCTTAGCACCACAGGTCATG -3'
(R):5'- TAGGGCAGATGAGTTTCTTCTC -3'

Sequencing Primer
(F):5'- AGCACCACAGGTCATGTTCTGTAG -3'
(R):5'- CTCAACCTATGTGGGAAATGCTG -3'
Posted On 2015-07-21