Mutagenetix > Incidental Mutations

Incidental Mutation 'R4799:Ddc'

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11814101-11898144 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 11846632 bp

Zygosity

Heterozygous

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

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 null
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

0.9755

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	C	G	12: 70,169,064	S170C	probably damaging	Het
Acads	T	A	5: 115,113,090	T112S	probably benign	Het
Adgrl1	A	G	8: 83,935,573	H1021R	probably benign	Het
Ago3	A	T	4: 126,347,872		probably null	Het
Ap5m1	A	G	14: 49,081,070	K412E	probably benign	Het
Arid1b	C	T	17: 5,339,221	P1681S	probably damaging	Het
Atxn10	T	C	15: 85,376,708		probably null	Het
AU040320	A	G	4: 126,839,669	T661A	probably benign	Het
Capn7	T	C	14: 31,360,557	I455M	probably benign	Het
Capzb	A	G	4: 139,192,999		probably benign	Het
Car10	G	A	11: 93,578,666	V156I	possibly damaging	Het
Cbs	T	A	17: 31,632,852	D59V	probably damaging	Het
Ccar2	T	C	14: 70,139,554	E819G	probably damaging	Het
Cdc73	T	A	1: 143,627,875	Q346L	probably benign	Het
Cdhr4	T	C	9: 107,998,699		probably benign	Het
Chd2	A	T	7: 73,484,436	M721K	possibly damaging	Het
Cntnap5b	G	A	1: 100,358,725	G402R	probably benign	Het
Cps1	T	C	1: 67,142,986	Y120H	probably damaging	Het
Csf2	T	C	11: 54,249,480	D44G	probably benign	Het
Cubn	T	A	2: 13,287,024	Q3330L	possibly damaging	Het
Cubn	A	G	2: 13,351,058	S1788P	probably damaging	Het
Cul9	T	C	17: 46,500,844	D2486G	possibly damaging	Het
Cyp2c40	A	T	19: 39,773,849	S451R	probably damaging	Het
Cyp51	T	A	5: 4,083,256	T461S	probably damaging	Het
Cyth1	T	C	11: 118,183,942	M164V	probably damaging	Het
D130043K22Rik	T	C	13: 24,878,040	I664T	probably damaging	Het
Ddx21	A	T	10: 62,588,121	D589E	probably damaging	Het
Dgkb	C	T	12: 38,114,568	R113C	possibly damaging	Het
Dglucy	A	T	12: 100,850,343	M415L	probably benign	Het
Efnb2	A	T	8: 8,623,104		probably null	Het
Elp4	T	A	2: 105,809,267	Q189L	probably damaging	Het
Enpp2	T	C	15: 54,910,094	N77S	probably damaging	Het
Eps15	G	A	4: 109,366,530		probably benign	Het
F2rl1	G	A	13: 95,513,969	S135F	possibly damaging	Het
Fam133b	T	C	5: 3,557,815	M65T	probably damaging	Het
Fanca	A	G	8: 123,288,202	V689A	probably damaging	Het
Fbxo18	C	T	2: 11,755,747	C79Y	probably damaging	Het
Fbxw7	C	T	3: 84,903,861	Q98*	probably null	Het
Flrt3	T	C	2: 140,660,166	N514S	probably damaging	Het
Foxj3	A	T	4: 119,621,660	S438C	unknown	Het
Gcm2	T	C	13: 41,103,494	K260E	possibly damaging	Het
Gm12863	C	T	4: 118,954,488		noncoding transcript	Het
Gm5096	C	A	18: 87,756,449	A32E	probably damaging	Het
Gpnmb	G	T	6: 49,045,483		probably null	Het
Gsap	C	A	5: 21,250,943	N379K	probably benign	Het
Hsd3b1	T	A	3: 98,852,865	Y270F	probably benign	Het
Il22	C	A	10: 118,205,153	R55S	probably damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Klhdc3	T	C	17: 46,677,300	R180G	possibly damaging	Het
Lmbrd1	G	A	1: 24,744,975		probably null	Het
Lrrcc1	C	T	3: 14,536,096	R63*	probably null	Het
Lyar	A	G	5: 38,224,779	D35G	probably damaging	Het
Mbd4	C	T	6: 115,845,322	R442Q	probably benign	Het
Mib2	G	T	4: 155,659,772	S144R	probably benign	Het
Mms22l	A	T	4: 24,580,052		probably null	Het
Mtmr3	G	A	11: 4,487,764	H897Y	probably benign	Het
Muc5b	T	A	7: 141,847,716	C566*	probably null	Het
Nap1l4	A	T	7: 143,534,463		probably null	Het
Ncor2	A	T	5: 125,037,060		probably null	Het
Ndufa7	T	C	17: 33,838,213		probably benign	Het
Ndufs1	C	A	1: 63,160,949	G268V	probably damaging	Het
Nfs1	A	G	2: 156,134,449	V175A	possibly damaging	Het
Obsl1	C	A	1: 75,489,501	A1528S	possibly damaging	Het
Olfr1089	C	T	2: 86,732,674		probably null	Het
Olfr1252	C	T	2: 89,721,362	V250I	probably benign	Het
Olfr372	A	G	8: 72,058,094	N138S	probably benign	Het
Olfr67	A	T	7: 103,787,481	F265L	possibly damaging	Het
Olfr8	T	G	10: 78,956,097	D297E	probably null	Het
Pcdhb8	A	G	18: 37,355,653	D128G	probably damaging	Het
Pkp4	A	T	2: 59,342,105	I522F	probably damaging	Het
Plod3	G	A	5: 136,990,800	A398T	probably benign	Het
Pou4f3	A	G	18: 42,395,987	M332V	possibly damaging	Het
Prox1	A	G	1: 190,153,472	F593L	probably damaging	Het
Prrc2a	G	A	17: 35,150,042	P2006L	probably damaging	Het
Prss50	A	G	9: 110,863,796	D328G	probably damaging	Het
Psmd6	C	T	14: 14,120,126	S71N	probably benign	Het
Ptprd	A	G	4: 76,091,532	I764T	probably benign	Het
Ptprr	C	T	10: 116,048,218	A60V	probably benign	Het
Raet1e	T	A	10: 22,181,300	D174E	probably damaging	Het
Rbfox2	T	C	15: 77,091,818	I308M	probably benign	Het
Rnf20	G	C	4: 49,649,962		probably null	Het
Rpap2	A	T	5: 107,620,247	H317L	probably benign	Het
Rsph6a	T	A	7: 19,065,858	Y471*	probably null	Het
Sdhb	A	G	4: 140,977,466	H246R	possibly damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Sin3b	A	C	8: 72,725,643	I126L	probably benign	Het
Skint2	G	A	4: 112,652,108	A363T	probably benign	Het
Slc22a30	A	G	19: 8,344,404	I432T	probably benign	Het
Slc2a2	G	A	3: 28,717,532		probably null	Het
Slco1a5	T	C	6: 142,248,807	Y370C	possibly damaging	Het
Sltm	A	G	9: 70,589,057	H958R	probably damaging	Het
Smpdl3a	C	T	10: 57,808,015	H290Y	probably damaging	Het
Snrnp40	A	G	4: 130,362,756	I91M	probably damaging	Het
Spag9	A	T	11: 94,048,516	K90N	possibly damaging	Het
Spag9	T	A	11: 94,048,517	F91I	probably damaging	Het
Stox1	A	C	10: 62,665,737	I348S	probably damaging	Het
Sult1e1	A	G	5: 87,590,168	V18A	possibly damaging	Het
Syne2	A	G	12: 75,899,167	M338V	probably benign	Het
Tbc1d23	T	A	16: 57,192,628	Q327L	probably benign	Het
Terf2	G	T	8: 107,076,675	H425Q	probably benign	Het
Timd2	A	T	11: 46,677,267	Y233*	probably null	Het
Tmem39a	A	G	16: 38,591,162		probably benign	Het
Trappc10	T	C	10: 78,201,590	D793G	possibly damaging	Het
Ttc30a2	T	A	2: 75,977,385	Y261F	probably benign	Het
Ugt1a10	TAAAAAAAAA	TAAAAAAA	1: 88,215,928		probably benign	Het
Unc93a	T	C	17: 13,120,895		probably null	Het
Utrn	T	C	10: 12,750,069	T123A	probably damaging	Het
Vmn1r171	T	C	7: 23,632,944	I198T	probably benign	Het
Vmn1r213	T	A	13: 23,011,846	S200T	probably damaging	Het
Vmn2r108	T	A	17: 20,462,629	D771V	probably damaging	Het
Wdr66	C	T	5: 123,302,772	H1131Y	probably benign	Het
Wls	C	T	3: 159,897,445	T165I	probably benign	Het
Zc3h13	G	A	14: 75,339,423	C1657Y	probably damaging	Het
Zdhhc5	T	C	2: 84,693,431	K224E	probably damaging	Het
Zfp54	T	A	17: 21,434,140	Y299N	probably damaging	Het
Zfp820	A	T	17: 21,818,985	L454Q	probably benign	Het
Zfp960	T	A	17: 17,088,436	F471I	probably damaging	Het
Zswim5	A	G	4: 116,972,972	I515V	probably benign	Het
Zzef1	G	T	11: 72,859,623	S919I	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	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
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

PCR Primer
(F):5'- GGTTGGATAAACTCCCCACTCC -3'
(R):5'- GGGTTTCCATCTCCATGTAAACATTC -3'

Sequencing Primer
(F):5'- TGGCTGTCCTGGAACTCAC -3'
(R):5'- CATTAGCATTGTACCTGGGCTAAC -3'

Posted On

2016-02-04