Mutagenetix > Incidental Mutation

Incidental Mutation 'R0454:Ddc'

39895

Institutional Source

Beutler Lab

Gene Symbol

Ddc

Ensembl Gene

ENSMUSG00000020182

Gene Name

dopa decarboxylase

Synonyms

Aadc, aromatic L-amino acid decarboxylase

MMRRC Submission

038654-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0454 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11814101-11898144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 11880587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 19 (D19A)

Ref Sequence

ENSEMBL: ENSMUSP00000121096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066237] [ENSMUST00000109659] [ENSMUST00000155690] [ENSMUST00000178704]

AlphaFold

O88533

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066237
AA Change: D19A

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068525
Gene: ENSMUSG00000020182
AA Change: D19A

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

possibly damaging
Transcript: ENSMUST00000109659
AA Change: D19A

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105286
Gene: ENSMUSG00000020182
AA Change: D19A

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: ENSMUST00000134121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151032

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155690
AA Change: D19A

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121096
Gene: ENSMUSG00000020182
AA Change: D19A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178704
AA Change: D19A

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136467
Gene: ENSMUSG00000020182
AA Change: D19A

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	A	G	5: 118,255,821	E88G	possibly damaging	Het
4930447F04Rik	T	C	X: 66,303,668	E91G	unknown	Het
Acot1	A	G	12: 84,017,339	Q407R	probably benign	Het
Adcy10	T	A	1: 165,570,728	Y1465N	probably damaging	Het
Ahsa2	T	A	11: 23,490,702	I249F	probably damaging	Het
Arhgap10	T	C	8: 77,250,965	N721S	probably damaging	Het
Arrdc4	T	G	7: 68,741,871	E216A	probably damaging	Het
Axin1	T	C	17: 26,173,663	V306A	probably benign	Het
BC005561	T	G	5: 104,518,211	S200A	probably benign	Het
Cct3	T	C	3: 88,302,866		probably null	Het
Cfap58	G	A	19: 47,974,680		probably null	Het
Chd9	T	C	8: 90,973,231	S49P	possibly damaging	Het
Clcn2	C	A	16: 20,710,428		probably null	Het
Col26a1	T	C	5: 136,754,193	N286D	probably benign	Het
Cpt1b	T	A	15: 89,424,393	I111F	possibly damaging	Het
Cyp4f16	T	A	17: 32,537,087	I30N	probably damaging	Het
Depdc1a	T	A	3: 159,516,900		probably null	Het
Evc2	T	A	5: 37,417,484	C1028S	possibly damaging	Het
Fam228a	T	C	12: 4,731,457	E134G	probably damaging	Het
Fasl	T	C	1: 161,787,954	E111G	probably benign	Het
Fbxw10	A	G	11: 62,876,738	N800S	possibly damaging	Het
Fras1	T	C	5: 96,762,665	S3318P	probably damaging	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gad1	T	A	2: 70,579,201	M212K	probably damaging	Het
Gm17455	T	G	10: 60,402,973	S6A	probably benign	Het
Grm5	T	C	7: 88,130,789	S1146P	probably damaging	Het
Gsn	T	C	2: 35,304,639	L649P	probably damaging	Het
H2-DMb1	A	G	17: 34,155,711	T112A	probably benign	Het
Hcn3	T	A	3: 89,152,894	I148F	probably damaging	Het
Hdac10	T	C	15: 89,125,758		probably null	Het
Hk3	C	A	13: 55,008,705	D619Y	probably damaging	Het
Ifi44	T	A	3: 151,745,497	R272S	possibly damaging	Het
Il1rap	A	C	16: 26,698,875	D275A	probably damaging	Het
Itgam	A	T	7: 128,107,980	N660I	probably benign	Het
Itpr3	T	C	17: 27,113,819	M1853T	probably benign	Het
Lrmp	A	G	6: 145,167,984	R293G	possibly damaging	Het
Lrrc8c	A	C	5: 105,607,099	K247Q	probably damaging	Het
Map3k21	T	C	8: 125,942,119	S815P	probably benign	Het
Mast4	A	G	13: 102,751,560	S1114P	probably damaging	Het
Myh8	C	T	11: 67,303,765	Q1601*	probably null	Het
Nhlrc2	A	G	19: 56,570,527	D148G	probably damaging	Het
Nos1	T	A	5: 117,943,320	S1196T	probably benign	Het
Nsmaf	C	T	4: 6,424,874		probably null	Het
Obscn	T	C	11: 58,999,623	D7361G	unknown	Het
Olfr1350	C	T	7: 6,570,360	A123V	probably damaging	Het
Olfr600	C	A	7: 103,346,878	A17S	probably benign	Het
Olfr721-ps1	T	C	14: 14,407,777	V183A	probably damaging	Het
Pank3	T	G	11: 35,777,709	M175R	probably benign	Het
Papolg	A	G	11: 23,879,868		probably null	Het
Pcdhb21	G	A	18: 37,514,513	D232N	probably damaging	Het
Pcdhb22	T	C	18: 37,518,872	F131S	probably damaging	Het
Pik3r6	G	A	11: 68,528,782	A140T	possibly damaging	Het
Pinlyp	T	C	7: 24,542,522	T87A	possibly damaging	Het
Pld1	T	C	3: 28,124,575	S873P	probably damaging	Het
Pld5	T	A	1: 176,274,729	Y49F	probably benign	Het
Polq	T	C	16: 37,034,890	V449A	probably damaging	Het
Prkca	A	G	11: 107,978,280	V69A	probably benign	Het
Ptk6	A	G	2: 181,202,282	S75P	possibly damaging	Het
Ptprq	G	A	10: 107,582,530	Q1662*	probably null	Het
Ptprt	C	A	2: 161,553,822	A1144S	probably damaging	Het
Rrm1	T	A	7: 102,466,926	W684R	probably damaging	Het
Ryr1	T	A	7: 29,036,075	M4093L	probably damaging	Het
Scnn1a	C	T	6: 125,322,226	L90F	probably damaging	Het
Slc25a19	G	T	11: 115,617,597	Y188*	probably null	Het
Slc31a1	C	T	4: 62,385,629		probably benign	Het
Slc5a11	C	G	7: 123,265,235	S351R	possibly damaging	Het
Slc6a17	A	G	3: 107,476,867	L387P	probably benign	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Spam1	T	A	6: 24,797,838	L331Q	probably damaging	Het
Spata32	A	G	11: 103,209,299	W127R	probably damaging	Het
Spta1	T	G	1: 174,213,942	I1324S	probably damaging	Het
St6galnac4	A	G	2: 32,594,318	Y176C	probably damaging	Het
Stk10	A	G	11: 32,596,724	E327G	probably damaging	Het
Stxbp5l	T	A	16: 37,134,284	Y912F	possibly damaging	Het
Tchp	G	A	5: 114,720,182	E459K	probably benign	Het
Terf2	C	T	8: 107,096,210	W100*	probably null	Het
Thrsp	T	C	7: 97,417,427	N26S	probably damaging	Het
Tln1	C	A	4: 43,553,504	R297L	probably benign	Het
Tmeff2	C	A	1: 50,928,075	T43N	possibly damaging	Het
Tmx1	C	T	12: 70,453,173	A2V	possibly damaging	Het
Tnks1bp1	T	A	2: 85,072,137	L1053Q	probably damaging	Het
Trmt10b	A	T	4: 45,304,286	K107N	probably damaging	Het
Trpa1	A	T	1: 14,885,748		probably null	Het
Trrap	A	G	5: 144,846,477	K3371R	probably damaging	Het
Tuba3b	G	A	6: 145,618,269	V14I	probably benign	Het
Usp19	T	C	9: 108,494,240		probably null	Het
Usp28	C	A	9: 49,039,101	D615E	possibly damaging	Het
Utp20	T	C	10: 88,822,069	D43G	probably benign	Het
Vmn1r58	T	G	7: 5,410,998	K78Q	possibly damaging	Het
Vmn2r10	T	C	5: 109,003,461	M96V	probably benign	Het
Wdr90	T	C	17: 25,860,049	E273G	probably damaging	Het
Xpc	C	T	6: 91,491,226	A860T	probably benign	Het
Zscan21	T	C	5: 138,133,603	I463T	possibly 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
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
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

PCR Primer
(F):5'- AGCTTACGTGTTGTGGTGACCC -3'
(R):5'- AGAATCTCTGCTCCCTGGACTTGC -3'

Sequencing Primer
(F):5'- GTGCTTTATAGGCATAAGCCCAG -3'
(R):5'- TGGACTTGCTCACCCCC -3'

Posted On

2013-05-23