Incidental Mutation 'R4799:Ddc'
ID 369357
Institutional Source Beutler Lab
Gene Symbol Ddc
Ensembl Gene ENSMUSG00000020182
Gene Name dopa decarboxylase
Synonyms Aadc, aromatic L-amino acid decarboxylase
MMRRC Submission 041997-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4799 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 11764101-11848144 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 11796632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066237] [ENSMUST00000109659] [ENSMUST00000155690] [ENSMUST00000178704]
AlphaFold O88533
Predicted Effect probably null
Transcript: ENSMUST00000066237
SMART Domains Protein: ENSMUSP00000068525
Gene: ENSMUSG00000020182

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

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 null
Transcript: ENSMUST00000155690
SMART Domains Protein: ENSMUSP00000121096
Gene: ENSMUSG00000020182

Pfam:Pyridoxal_deC 35 253 9.1e-91 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000178704
SMART Domains Protein: ENSMUSP00000136467
Gene: ENSMUSG00000020182

Pfam:Pyridoxal_deC 35 414 8.2e-173 PFAM
Pfam:Beta_elim_lyase 81 401 2.3e-9 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 97% (122/126)
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: 119 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b C G 12: 70,215,838 (GRCm39) S170C probably damaging Het
Acads T A 5: 115,251,149 (GRCm39) T112S probably benign Het
Adgrl1 A G 8: 84,662,202 (GRCm39) H1021R probably benign Het
Ago3 A T 4: 126,241,665 (GRCm39) probably null Het
Ap5m1 A G 14: 49,318,527 (GRCm39) K412E probably benign Het
Arid1b C T 17: 5,389,496 (GRCm39) P1681S probably damaging Het
Atxn10 T C 15: 85,260,909 (GRCm39) probably null Het
AU040320 A G 4: 126,733,462 (GRCm39) T661A probably benign Het
Bhmt1b C A 18: 87,774,573 (GRCm39) A32E probably damaging Het
Capn7 T C 14: 31,082,514 (GRCm39) I455M probably benign Het
Capzb A G 4: 138,920,310 (GRCm39) probably benign Het
Car10 G A 11: 93,469,492 (GRCm39) V156I possibly damaging Het
Cbs T A 17: 31,851,826 (GRCm39) D59V probably damaging Het
Ccar2 T C 14: 70,377,003 (GRCm39) E819G probably damaging Het
Cdc73 T A 1: 143,503,613 (GRCm39) Q346L probably benign Het
Cdhr4 T C 9: 107,875,898 (GRCm39) probably benign Het
Cfap251 C T 5: 123,440,835 (GRCm39) H1131Y probably benign Het
Chd2 A T 7: 73,134,184 (GRCm39) M721K possibly damaging Het
Cntnap5b G A 1: 100,286,450 (GRCm39) G402R probably benign Het
Cps1 T C 1: 67,182,145 (GRCm39) Y120H probably damaging Het
Csf2 T C 11: 54,140,306 (GRCm39) D44G probably benign Het
Cubn T A 2: 13,291,835 (GRCm39) Q3330L possibly damaging Het
Cubn A G 2: 13,355,869 (GRCm39) S1788P probably damaging Het
Cul9 T C 17: 46,811,770 (GRCm39) D2486G possibly damaging Het
Cyp2c40 A T 19: 39,762,293 (GRCm39) S451R probably damaging Het
Cyp51 T A 5: 4,133,256 (GRCm39) T461S probably damaging Het
Cyth1 T C 11: 118,074,768 (GRCm39) M164V probably damaging Het
D130043K22Rik T C 13: 25,062,023 (GRCm39) I664T probably damaging Het
Ddx21 A T 10: 62,423,900 (GRCm39) D589E probably damaging Het
Dgkb C T 12: 38,164,567 (GRCm39) R113C possibly damaging Het
Dglucy A T 12: 100,816,602 (GRCm39) M415L probably benign Het
Efnb2 A T 8: 8,673,104 (GRCm39) probably null Het
Elp4 T A 2: 105,639,612 (GRCm39) Q189L probably damaging Het
Enpp2 T C 15: 54,773,490 (GRCm39) N77S probably damaging Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
F2rl1 G A 13: 95,650,477 (GRCm39) S135F possibly damaging Het
Fam133b T C 5: 3,607,815 (GRCm39) M65T probably damaging Het
Fanca A G 8: 124,014,941 (GRCm39) V689A probably damaging Het
Fbh1 C T 2: 11,760,558 (GRCm39) C79Y probably damaging Het
Fbxw7 C T 3: 84,811,168 (GRCm39) Q98* probably null Het
Flrt3 T C 2: 140,502,086 (GRCm39) N514S probably damaging Het
Foxj3 A T 4: 119,478,857 (GRCm39) S438C unknown Het
Gcm2 T C 13: 41,256,970 (GRCm39) K260E possibly damaging Het
Gm12863 C T 4: 118,811,685 (GRCm39) noncoding transcript Het
Gpnmb G T 6: 49,022,417 (GRCm39) probably null Het
Gsap C A 5: 21,455,941 (GRCm39) N379K probably benign Het
Hsd3b1 T A 3: 98,760,181 (GRCm39) Y270F probably benign Het
Ift70a2 T A 2: 75,807,729 (GRCm39) Y261F probably benign Het
Il22 C A 10: 118,041,058 (GRCm39) R55S probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhdc3 T C 17: 46,988,226 (GRCm39) R180G possibly damaging Het
Lmbrd1 G A 1: 24,784,056 (GRCm39) probably null Het
Lrrcc1 C T 3: 14,601,156 (GRCm39) R63* probably null Het
Lyar A G 5: 38,382,123 (GRCm39) D35G probably damaging Het
Mbd4 C T 6: 115,822,283 (GRCm39) R442Q probably benign Het
Mib2 G T 4: 155,744,229 (GRCm39) S144R probably benign Het
Mms22l A T 4: 24,580,052 (GRCm39) probably null Het
Mtmr3 G A 11: 4,437,764 (GRCm39) H897Y probably benign Het
Muc5b T A 7: 141,401,453 (GRCm39) C566* probably null Het
Nap1l4 A T 7: 143,088,200 (GRCm39) probably null Het
Ncor2 A T 5: 125,114,124 (GRCm39) probably null Het
Ndufa7 T C 17: 34,057,187 (GRCm39) probably benign Het
Ndufs1 C A 1: 63,200,108 (GRCm39) G268V probably damaging Het
Nfs1 A G 2: 155,976,369 (GRCm39) V175A possibly damaging Het
Obsl1 C A 1: 75,466,145 (GRCm39) A1528S possibly damaging Het
Or2z8 A G 8: 72,811,938 (GRCm39) N138S probably benign Het
Or4a79 C T 2: 89,551,706 (GRCm39) V250I probably benign Het
Or52z1 A T 7: 103,436,688 (GRCm39) F265L possibly damaging Het
Or7a42 T G 10: 78,791,931 (GRCm39) D297E probably null Het
Or8k39 C T 2: 86,563,018 (GRCm39) probably null Het
Pcdhb8 A G 18: 37,488,706 (GRCm39) D128G probably damaging Het
Pkp4 A T 2: 59,172,449 (GRCm39) I522F probably damaging Het
Plod3 G A 5: 137,019,654 (GRCm39) A398T probably benign Het
Pou4f3 A G 18: 42,529,052 (GRCm39) M332V possibly damaging Het
Prox1 A G 1: 189,885,669 (GRCm39) F593L probably damaging Het
Prrc2a G A 17: 35,369,018 (GRCm39) P2006L probably damaging Het
Prss50 A G 9: 110,692,864 (GRCm39) D328G probably damaging Het
Psmd6 C T 14: 14,120,126 (GRCm38) S71N probably benign Het
Ptprd A G 4: 76,009,769 (GRCm39) I764T probably benign Het
Ptprr C T 10: 115,884,123 (GRCm39) A60V probably benign Het
Raet1e T A 10: 22,057,199 (GRCm39) D174E probably damaging Het
Rbfox2 T C 15: 76,976,018 (GRCm39) I308M probably benign Het
Rnf20 G C 4: 49,649,962 (GRCm39) probably null Het
Rpap2 A T 5: 107,768,113 (GRCm39) H317L probably benign Het
Rsph6a T A 7: 18,799,783 (GRCm39) Y471* probably null Het
Sdhb A G 4: 140,704,777 (GRCm39) H246R possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Sin3b A C 8: 73,452,271 (GRCm39) I126L probably benign Het
Skint2 G A 4: 112,509,305 (GRCm39) A363T probably benign Het
Slc22a30 A G 19: 8,321,768 (GRCm39) I432T probably benign Het
Slc2a2 G A 3: 28,771,681 (GRCm39) probably null Het
Slco1a5 T C 6: 142,194,533 (GRCm39) Y370C possibly damaging Het
Sltm A G 9: 70,496,339 (GRCm39) H958R probably damaging Het
Smpdl3a C T 10: 57,684,111 (GRCm39) H290Y probably damaging Het
Snrnp40 A G 4: 130,256,549 (GRCm39) I91M probably damaging Het
Spag9 T A 11: 93,939,343 (GRCm39) F91I probably damaging Het
Spag9 A T 11: 93,939,342 (GRCm39) K90N possibly damaging Het
Stox1 A C 10: 62,501,516 (GRCm39) I348S probably damaging Het
Sult1e1 A G 5: 87,738,027 (GRCm39) V18A possibly damaging Het
Syne2 A G 12: 75,945,941 (GRCm39) M338V probably benign Het
Tbc1d23 T A 16: 57,012,991 (GRCm39) Q327L probably benign Het
Terf2 G T 8: 107,803,307 (GRCm39) H425Q probably benign Het
Timd2 A T 11: 46,568,094 (GRCm39) Y233* probably null Het
Tmem39a A G 16: 38,411,524 (GRCm39) probably benign Het
Trappc10 T C 10: 78,037,424 (GRCm39) D793G possibly damaging Het
Ugt1a10 TAAAAAAAAA TAAAAAAA 1: 88,143,650 (GRCm39) probably benign Het
Unc93a T C 17: 13,339,782 (GRCm39) probably null Het
Utrn T C 10: 12,625,813 (GRCm39) T123A probably damaging Het
Vmn1r171 T C 7: 23,332,369 (GRCm39) I198T probably benign Het
Vmn1r213 T A 13: 23,196,016 (GRCm39) S200T probably damaging Het
Vmn2r108 T A 17: 20,682,891 (GRCm39) D771V probably damaging Het
Wls C T 3: 159,603,082 (GRCm39) T165I probably benign Het
Zc3h13 G A 14: 75,576,863 (GRCm39) C1657Y probably damaging Het
Zdhhc5 T C 2: 84,523,775 (GRCm39) K224E probably damaging Het
Zfp54 T A 17: 21,654,402 (GRCm39) Y299N probably damaging Het
Zfp820 A T 17: 22,037,966 (GRCm39) L454Q probably benign Het
Zfp960 T A 17: 17,308,698 (GRCm39) F471I probably damaging Het
Zswim5 A G 4: 116,830,169 (GRCm39) I515V probably benign Het
Zzef1 G T 11: 72,750,449 (GRCm39) S919I probably benign 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
R4508:Ddc UTSW 11 11,769,393 (GRCm39) critical splice acceptor 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

Sequencing Primer
Posted On 2016-02-04