Incidental Mutation 'R1173:Ddc'
ID99732
Institutional Source Beutler Lab
Gene Symbol Ddc
Ensembl Gene ENSMUSG00000020182
Gene Namedopa decarboxylase
SynonymsAadc, aromatic L-amino acid decarboxylase
MMRRC Submission 039246-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1173 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location11814101-11898144 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 11846634 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066237] [ENSMUST00000109659] [ENSMUST00000155690] [ENSMUST00000178704]
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 noncoding transcript
Transcript: ENSMUST00000122971
Predicted Effect probably benign
Transcript: ENSMUST00000155690
SMART Domains Protein: ENSMUSP00000121096
Gene: ENSMUSG00000020182

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 35 253 9.1e-91 PFAM
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 0.9491 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.9%
Validation Efficiency 99% (72/73)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T A 6: 50,589,141 K118M probably damaging Het
Accsl A T 2: 93,866,244 probably benign Het
Adam30 G A 3: 98,162,906 S685N probably benign Het
Adamts12 T C 15: 11,071,757 V129A probably benign Het
Agxt2 T C 15: 10,373,751 F81S probably damaging Het
Ahnak2 A T 12: 112,785,789 I186N probably damaging Het
Amz1 A T 5: 140,751,936 probably null Het
Anapc5 G A 5: 122,788,418 A619V possibly damaging Het
Bbox1 T C 2: 110,265,611 D336G probably damaging Het
Bivm A G 1: 44,126,782 T131A probably benign Het
Bpi A T 2: 158,267,740 I203F probably benign Het
Cd151 A C 7: 141,470,656 T241P probably damaging Het
Cdh23 G A 10: 60,312,392 probably benign Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Cul9 C G 17: 46,522,175 A1326P probably damaging Het
Dclre1b A C 3: 103,803,876 S240A probably benign Het
Dkk1 T C 19: 30,547,250 R252G probably damaging Het
Dmrtc2 T A 7: 24,874,313 M191K possibly damaging Het
Eml6 A G 11: 29,749,824 S1771P possibly damaging Het
Emx1 T C 6: 85,188,371 probably benign Het
Fah T C 7: 84,601,136 M1V probably null Het
Fmo6 A T 1: 162,926,141 M144K probably damaging Het
Frem1 A G 4: 82,950,352 V1445A probably benign Het
Fsd2 T C 7: 81,559,770 D108G probably benign Het
Gfm2 A G 13: 97,165,200 probably null Het
Ghrhr T A 6: 55,388,269 L416* probably null Het
Glipr1l2 C A 10: 112,083,466 L31I possibly damaging Het
Gm19965 T A 1: 116,820,820 probably benign Het
Gpr149 A G 3: 62,604,467 L37P probably damaging Het
Hoxa9 A G 6: 52,225,713 I131T probably damaging Het
Htra4 T C 8: 25,030,619 D342G possibly damaging Het
Idh1 G T 1: 65,161,160 N348K probably benign Het
Impdh2 T C 9: 108,561,829 F99S probably benign Het
Kank4 T C 4: 98,765,569 Y874C probably damaging Het
Kazn A T 4: 142,159,038 probably benign Het
Kcnq3 T A 15: 66,000,042 T593S probably benign Het
Lamc1 T C 1: 153,247,231 probably benign Het
Magi3 A G 3: 104,061,630 probably null Het
Map3k19 A G 1: 127,823,880 V578A probably benign Het
Meox2 T C 12: 37,109,152 C108R possibly damaging Het
Nlrp9c C A 7: 26,380,435 C722F probably damaging Het
Olfr448 T C 6: 42,897,351 V300A probably benign Het
Pde10a C T 17: 8,920,546 probably benign Het
Ppfia4 A G 1: 134,332,283 probably benign Het
Psg18 T C 7: 18,354,817 M1V probably null Het
Qtrt1 A G 9: 21,412,486 T136A probably benign Het
Retsat T C 6: 72,603,651 probably benign Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Sfswap G A 5: 129,507,143 probably null Het
Slc16a7 A T 10: 125,231,372 L133I possibly damaging Het
Slc30a3 A T 5: 31,086,810 M376K probably damaging Het
Srbd1 C T 17: 86,098,512 C620Y probably null Het
Svs1 C A 6: 48,990,239 P707H probably damaging Het
Trip10 T A 17: 57,253,363 L100Q probably damaging Het
Tyrp1 C T 4: 80,844,868 Q331* probably null Het
Vangl2 G T 1: 172,004,786 T501N probably damaging Het
Vdr A T 15: 97,869,333 Y185N probably benign Het
Vmn1r123 C T 7: 21,162,332 P50S probably damaging Het
Vmn1r158 T A 7: 22,790,445 H113L probably benign Het
Vmn2r12 A T 5: 109,092,854 I131N probably benign Het
Vmn2r72 T A 7: 85,751,944 E89V probably damaging Het
Xrcc6 A G 15: 82,031,163 D94G probably damaging Het
Zbtb32 T A 7: 30,591,267 E201V possibly damaging Het
Zfp185 A T X: 72,999,323 E138D possibly damaging Het
Zmynd11 T A 13: 9,689,549 H437L probably damaging Het
Other mutations in Ddc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Ddc APN 11 11839462 missense probably damaging 1.00
IGL01336:Ddc APN 11 11846630 splice site probably null
IGL02257:Ddc APN 11 11873171 nonsense probably null
IGL02327:Ddc APN 11 11863739 missense probably damaging 0.98
IGL02516:Ddc APN 11 11829125 missense probably damaging 1.00
IGL02616:Ddc APN 11 11880645 utr 5 prime probably benign
IGL02888:Ddc APN 11 11822297 splice site probably benign
IGL03267:Ddc APN 11 11876303 missense probably damaging 1.00
R0454:Ddc UTSW 11 11880587 missense possibly damaging 0.88
R1061:Ddc UTSW 11 11829132 missense probably benign 0.00
R1382:Ddc UTSW 11 11824856 missense possibly damaging 0.52
R1549:Ddc UTSW 11 11846656 unclassified probably null
R1583:Ddc UTSW 11 11829131 missense probably benign 0.17
R1929:Ddc UTSW 11 11835764 missense probably damaging 1.00
R1970:Ddc UTSW 11 11815292 missense possibly damaging 0.87
R2034:Ddc UTSW 11 11880456 missense probably benign 0.40
R2270:Ddc UTSW 11 11835764 missense probably damaging 1.00
R2272:Ddc UTSW 11 11835764 missense probably damaging 1.00
R4449:Ddc UTSW 11 11835802 missense probably damaging 1.00
R4508:Ddc UTSW 11 11819393 critical splice acceptor site probably null
R4799:Ddc UTSW 11 11846632 splice site probably null
R5307:Ddc UTSW 11 11876321 missense probably damaging 1.00
R6654:Ddc UTSW 11 11880452 missense probably damaging 1.00
R6817:Ddc UTSW 11 11824854 missense probably damaging 1.00
R6918:Ddc UTSW 11 11819307 missense probably damaging 1.00
R7001:Ddc UTSW 11 11824870 critical splice acceptor site probably null
R7784:Ddc UTSW 11 11839396 critical splice donor site probably null
Z1177:Ddc UTSW 11 11880552 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15