Mutagenetix > Incidental Mutation

Incidental Mutation 'R1173:Ddc'

99732

Institutional Source

Beutler Lab

Gene Symbol

Ddc

Ensembl Gene

ENSMUSG00000020182

Gene Name

dopa decarboxylase

Synonyms

Aadc, aromatic L-amino acid decarboxylase

MMRRC Submission

039246-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11814101-11898144 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 11846634 bp (GRCm38)

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

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

noncoding transcript
Transcript: ENSMUST00000122971

Predicted Effect

probably benign
Transcript: ENSMUST00000155690

SMART Domains

Protein: ENSMUSP00000121096
Gene: ENSMUSG00000020182

Domain	Start	End	E-Value	Type
Pfam:Pyridoxal_deC	35	253	9.1e-91	PFAM

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

0.9491

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

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
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
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
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
R9616:Ddc	UTSW	11	11822288	nonsense	probably null
Z1177:Ddc	UTSW	11	11880552	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15