Mutagenetix > Incidental Mutations

Incidental Mutation 'R4508:Ddc'

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4508 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11814101-11898144 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to T at 11819393 bp (GRCm38)

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

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 null
Transcript: ENSMUST00000066237

SMART Domains

Protein: ENSMUSP00000068525
Gene: ENSMUSG00000020182

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 null
Transcript: ENSMUST00000109659

SMART Domains

Protein: ENSMUSP00000105286
Gene: ENSMUSG00000020182

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 null
Transcript: ENSMUST00000109659

SMART Domains

Protein: ENSMUSP00000105286
Gene: ENSMUSG00000020182

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

noncoding transcript
Transcript: ENSMUST00000134401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136810

Predicted Effect

probably null
Transcript: ENSMUST00000178704

SMART Domains

Protein: ENSMUSP00000136467
Gene: ENSMUSG00000020182

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

0.9479

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	G	2: 150,904,355		probably benign	Het
Amer3	A	G	1: 34,588,299	R540G	probably benign	Het
Ank	C	T	15: 27,564,977	R255W	probably damaging	Het
Ank3	A	C	10: 69,892,370	I629L	probably damaging	Het
Arhgap11a	T	A	2: 113,842,042	N194Y	probably damaging	Het
BB014433	T	C	8: 15,042,095	T253A	possibly damaging	Het
Ccdc40	C	A	11: 119,242,509	D534E	probably damaging	Het
Chrna2	C	A	14: 66,146,453	N106K	probably damaging	Het
Clec2f	C	A	6: 129,020,511		noncoding transcript	Het
Cnnm2	G	A	19: 46,877,270	D766N	probably benign	Het
Ctc1	A	G	11: 69,016,117		probably null	Het
Doc2g	G	A	19: 4,004,036		probably benign	Het
Ep400	T	C	5: 110,703,615	T1334A	unknown	Het
Epdr1	T	C	13: 19,594,489	I44V	probably benign	Het
Fam71f1	T	C	6: 29,323,765	V163A	probably benign	Het
Fbp2	A	T	13: 62,841,865	I209N	probably damaging	Het
Gldc	G	T	19: 30,143,407	Q375K	probably damaging	Het
Hc	A	C	2: 35,013,065	V1058G	possibly damaging	Het
Hydin	T	A	8: 110,519,254	S2200T	possibly damaging	Het
Kcnc1	C	T	7: 46,428,288	P505S	probably benign	Het
Kifc3	T	C	8: 95,107,420		probably null	Het
Klhl10	A	G	11: 100,442,176	E49G	possibly damaging	Het
Lhx5	T	C	5: 120,435,434	S161P	probably damaging	Het
Lilra6	G	T	7: 3,912,029	Y455*	probably null	Het
Lzts1	C	T	8: 69,135,618	R562H	probably benign	Het
Muc6	G	A	7: 141,640,089		probably benign	Het
Ogfod2	C	T	5: 124,113,254	Q74*	probably null	Het
Olfr1305	A	C	2: 111,873,602	D84E	probably damaging	Het
Olfr183	T	A	16: 58,999,775	V30E	probably benign	Het
Polr2a	T	C	11: 69,742,559		probably null	Het
Ptpre	T	C	7: 135,669,103	L329P	probably damaging	Het
Rnh1	T	C	7: 141,164,543	Q73R	possibly damaging	Het
Scly	G	A	1: 91,308,325	V100I	possibly damaging	Het
Sos2	A	T	12: 69,635,661	L261*	probably null	Het
Sp1	A	C	15: 102,409,312	Q422P	possibly damaging	Het
Sp3	A	T	2: 72,970,397	F468Y	probably damaging	Het
Tenm2	T	C	11: 36,008,345	Y2662C	possibly damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmprss2	C	A	16: 97,570,427	G281C	probably damaging	Het
Tmprss6	A	T	15: 78,459,778	Y183N	probably damaging	Het
Ttn	A	T	2: 76,750,340	L23403Q	probably damaging	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn1r90	T	C	7: 14,562,159	N5D	probably benign	Het
Vps13b	A	G	15: 35,709,673	D1922G	possibly damaging	Het
Wrb	T	A	16: 96,145,699		probably benign	Het

Other mutations in Ddc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R1173:Ddc	UTSW	11	11846634	critical splice donor site	probably null
R1382:Ddc	UTSW	11	11824856	missense	possibly damaging	0.52
R1549:Ddc	UTSW	11	11846656	splice site	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
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
R8435:Ddc	UTSW	11	11864902	missense	probably damaging	0.97
R8550:Ddc	UTSW	11	11835743	missense	probably damaging	1.00
R9200:Ddc	UTSW	11	11815388	missense	possibly damaging	0.81
R9303:Ddc	UTSW	11	11829132	missense	probably benign	0.00
Z1177:Ddc	UTSW	11	11880552	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