Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Ddc'

177264

Institutional Source

Beutler Lab

Gene Symbol

Ddc

Ensembl Gene

ENSMUSG00000020182

Gene Name

dopa decarboxylase

Synonyms

Aadc, aromatic L-amino acid decarboxylase

MMRRC Submission

039620-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11764101-11848144 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11779131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 331 (V331A)

Ref Sequence

ENSEMBL: ENSMUSP00000136467 (fasta)

Gene Model

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

AlphaFold

O88533

Predicted Effect

probably benign
Transcript: ENSMUST00000066237
AA Change: V331A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000068525
Gene: ENSMUSG00000020182
AA Change: V331A

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 benign
Transcript: ENSMUST00000109659
AA Change: V331A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105286
Gene: ENSMUSG00000020182
AA Change: V331A

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

probably benign
Transcript: ENSMUST00000178704
AA Change: V331A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000136467
Gene: ENSMUSG00000020182
AA Change: V331A

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,030,528 (GRCm39)	S691P	probably benign	Het
Adgrb3	T	C	1: 25,265,912 (GRCm39)		probably null	Het
Ankar	A	G	1: 72,718,714 (GRCm39)		probably benign	Het
Aplf	A	T	6: 87,623,015 (GRCm39)	Y355N	probably damaging	Het
Bms1	A	G	6: 118,366,350 (GRCm39)		probably benign	Het
Catsperb	T	C	12: 101,429,373 (GRCm39)	I182T	probably damaging	Het
Cd300ld2	T	C	11: 114,904,603 (GRCm39)	D88G	probably benign	Het
Cebpz	T	C	17: 79,242,181 (GRCm39)	N491S	probably damaging	Het
Crybg2	T	C	4: 133,808,770 (GRCm39)	S1415P	probably damaging	Het
Decr2	T	C	17: 26,301,998 (GRCm39)	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,713,943 (GRCm39)	M136T	probably damaging	Het
Eapp	G	A	12: 54,732,733 (GRCm39)	Q126*	probably null	Het
Fam111a	T	A	19: 12,565,142 (GRCm39)	V297D	probably damaging	Het
Fbxo10	A	C	4: 45,062,118 (GRCm39)	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,167,118 (GRCm39)	H613Q	possibly damaging	Het
Frk	A	T	10: 34,467,806 (GRCm39)		probably null	Het
Gm10392	T	A	11: 77,408,307 (GRCm39)	D104V	probably benign	Het
Gpn1	A	G	5: 31,654,682 (GRCm39)	E78G	possibly damaging	Het
Hhip	T	C	8: 80,716,905 (GRCm39)	Y506C	probably damaging	Het
Hid1	G	A	11: 115,247,576 (GRCm39)	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,750,548 (GRCm39)		probably benign	Het
Klhl21	T	C	4: 152,094,081 (GRCm39)	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,119,224 (GRCm39)		probably null	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lratd1	G	A	12: 14,200,409 (GRCm39)	A106V	probably benign	Het
Magi2	T	C	5: 19,432,330 (GRCm39)	V15A	probably benign	Het
Map2k7	T	C	8: 4,293,621 (GRCm39)		probably null	Het
Mga	T	A	2: 119,794,441 (GRCm39)	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,588,286 (GRCm39)	I238T	possibly damaging	Het
Mylk	T	A	16: 34,695,956 (GRCm39)	D230E	probably benign	Het
Nacad	T	A	11: 6,551,185 (GRCm39)	T669S	probably benign	Het
Nin	C	T	12: 70,078,512 (GRCm39)	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,116,164 (GRCm39)	A203T	probably damaging	Het
Or10aa1	T	C	1: 173,870,046 (GRCm39)	F177L	probably benign	Het
Or10q12	A	T	19: 13,745,874 (GRCm39)	H56L	probably benign	Het
Or4c106	T	G	2: 88,682,606 (GRCm39)	F104C	probably damaging	Het
Or4k5	C	A	14: 50,386,231 (GRCm39)	M33I	probably benign	Het
Or4k51	A	T	2: 111,584,770 (GRCm39)	M59L	probably damaging	Het
Or5ac19	A	G	16: 59,089,394 (GRCm39)	V212A	probably benign	Het
Osbp	C	A	19: 11,955,193 (GRCm39)	Q282K	probably benign	Het
Osbpl2	A	G	2: 179,790,256 (GRCm39)	S177G	probably damaging	Het
Pax1	A	G	2: 147,208,175 (GRCm39)	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,728,647 (GRCm39)	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,188,049 (GRCm39)	S3420P	probably benign	Het
Prss3	A	C	6: 41,354,561 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,400,563 (GRCm39)	T751A	possibly damaging	Het
Pus10	T	C	11: 23,623,239 (GRCm39)	V126A	probably damaging	Het
Rai14	A	C	15: 10,588,002 (GRCm39)	D258E	probably damaging	Het
Rbp3	T	C	14: 33,676,481 (GRCm39)	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,374,153 (GRCm39)	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,227,092 (GRCm39)		noncoding transcript	Het
Scrn1	A	T	6: 54,497,754 (GRCm39)	V279E	probably damaging	Het
Sipa1l2	T	C	8: 126,148,634 (GRCm39)	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,640,122 (GRCm39)	I305F	probably benign	Het
Smarcc1	A	G	9: 110,042,685 (GRCm39)	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,957,389 (GRCm39)	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,677,193 (GRCm39)	R260*	probably null	Het
Tenm3	T	C	8: 48,732,109 (GRCm39)	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,878,357 (GRCm39)	G116A	probably damaging	Het
Tial1	A	G	7: 128,045,634 (GRCm39)	Y317H	probably damaging	Het
Top6bl	T	A	19: 4,702,199 (GRCm39)	K282N	probably damaging	Het
Trim66	A	T	7: 109,054,287 (GRCm39)	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,674,371 (GRCm39)	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,490,140 (GRCm39)	S31T	possibly damaging	Het

Other mutations in Ddc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R4799:Ddc	UTSW	11	11,796,632 (GRCm39)	splice 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
(F):5'- GCCCTCAACTCAGCACAGCATAG -3'
(R):5'- TCTGTCCAGCAAGGCGTGTAGT -3'

Sequencing Primer
(F):5'- CCAAGTCAGTCCTGAAGCAAAC -3'
(R):5'- gccttccagccttttcttttc -3'

Posted On

2014-04-24