Mutagenetix > Incidental Mutation

Incidental Mutation 'R9616:Ddc'

724600

Institutional Source

Beutler Lab

Gene Symbol

Ddc

Ensembl Gene

ENSMUSG00000020182

Gene Name

dopa decarboxylase

Synonyms

Aadc, aromatic L-amino acid decarboxylase

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9616 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11764101-11848144 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 11772288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 349 (W349*)

Ref Sequence

ENSEMBL: ENSMUSP00000136467 (fasta)

Gene Model

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

AlphaFold

O88533

Predicted Effect

probably null
Transcript: ENSMUST00000066237
AA Change: W349*

SMART Domains

Protein: ENSMUSP00000068525
Gene: ENSMUSG00000020182
AA Change: W349*

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
AA Change: W349*

SMART Domains

Protein: ENSMUSP00000105286
Gene: ENSMUSG00000020182
AA Change: W349*

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: ENSMUST00000178704
AA Change: W349*

SMART Domains

Protein: ENSMUSP00000136467
Gene: ENSMUSG00000020182
AA Change: W349*

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040M04Rik	T	A	1: 151,080,480 (GRCm39)	D189E	probably benign	Het
Abca13	A	T	11: 9,240,501 (GRCm39)	H788L	probably benign	Het
Abcb1b	A	G	5: 8,862,779 (GRCm39)	I154V	probably benign	Het
Acsm4	A	G	7: 119,293,872 (GRCm39)	N81S	probably benign	Het
Adamts5	G	A	16: 85,659,674 (GRCm39)	H873Y	probably benign	Het
Aox4	C	T	1: 58,268,020 (GRCm39)	T200I	possibly damaging	Het
Arhgap33	A	G	7: 30,229,367 (GRCm39)	V336A	probably damaging	Het
Brca1	C	T	11: 101,416,683 (GRCm39)	E484K	probably damaging	Het
Capn13	T	A	17: 73,672,964 (GRCm39)	D113V	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ceacam3	G	A	7: 16,892,078 (GRCm39)	E274K		Het
Cfh	A	T	1: 140,030,254 (GRCm39)	I891K	probably damaging	Het
Cgn	A	G	3: 94,670,332 (GRCm39)	S1041P	probably damaging	Het
Cldn18	T	C	9: 99,580,915 (GRCm39)	D111G	probably benign	Het
Cnp	G	A	11: 100,467,261 (GRCm39)	R68Q	probably benign	Het
Cntn4	T	A	6: 106,674,525 (GRCm39)	C1008*	probably null	Het
Cntnap5a	T	C	1: 116,029,323 (GRCm39)	I259T	probably benign	Het
Cubn	A	G	2: 13,319,529 (GRCm39)	I2897T	probably benign	Het
Cyp2c39	T	A	19: 39,501,648 (GRCm39)	L67Q	probably damaging	Het
Dclk1	G	A	3: 55,387,854 (GRCm39)	C100Y	probably damaging	Het
Dennd3	A	G	15: 73,440,563 (GRCm39)	E1198G	probably benign	Het
Dnah1	T	C	14: 31,026,400 (GRCm39)	D826G	probably null	Het
Dpp4	T	C	2: 62,217,429 (GRCm39)	Y56C	probably damaging	Het
Etv6	A	G	6: 134,243,295 (GRCm39)	D350G	possibly damaging	Het
Fat1	C	A	8: 45,406,075 (GRCm39)	P942Q	probably damaging	Het
Fbxl5	A	G	5: 43,916,159 (GRCm39)	F418L	probably benign	Het
Fbxo11	T	A	17: 88,316,098 (GRCm39)	H368L		Het
Fhl2	G	T	1: 43,167,546 (GRCm39)	H182Q	probably damaging	Het
Gabpa	T	A	16: 84,649,461 (GRCm39)	C223S	probably damaging	Het
Gigyf2	T	C	1: 87,356,326 (GRCm39)	I803T	unknown	Het
Greb1	A	T	12: 16,790,038 (GRCm39)	N3K	probably damaging	Het
Hmcn1	T	G	1: 150,684,473 (GRCm39)	S366R	probably benign	Het
Il17b	A	G	18: 61,825,363 (GRCm39)	Q133R	probably benign	Het
Inha	T	A	1: 75,486,211 (GRCm39)	S169T	probably benign	Het
Itsn1	G	A	16: 91,650,055 (GRCm39)	R243H	probably benign	Het
Kcnu1	G	GA	8: 26,403,675 (GRCm39)		probably null	Het
Kdm1b	A	G	13: 47,234,030 (GRCm39)	E788G	probably damaging	Het
Kdm2a	A	T	19: 4,370,308 (GRCm39)	I1059N	probably damaging	Het
Klk1b9	G	T	7: 43,628,795 (GRCm39)	G100C	probably benign	Het
Knl1	T	C	2: 118,899,994 (GRCm39)	V565A	probably benign	Het
Knl1	A	T	2: 118,907,425 (GRCm39)	N1650Y	probably damaging	Het
Lpp	T	C	16: 24,580,719 (GRCm39)	V270A	probably benign	Het
Lrrc15	A	G	16: 30,092,517 (GRCm39)	L274P	probably damaging	Het
Mertk	C	T	2: 128,643,255 (GRCm39)	L885F	probably benign	Het
Mpst	T	A	15: 78,294,361 (GRCm39)	L31*	probably null	Het
Ms4a10	T	C	19: 10,944,440 (GRCm39)	T115A	possibly damaging	Het
Myof	A	G	19: 37,923,263 (GRCm39)	I1330T	possibly damaging	Het
Ncam2	T	C	16: 81,240,142 (GRCm39)	I201T	probably damaging	Het
Nefh	T	A	11: 4,889,443 (GRCm39)	K1059*	probably null	Het
Nek1	T	C	8: 61,473,107 (GRCm39)	Y168H	probably damaging	Het
Nek11	T	A	9: 105,082,011 (GRCm39)	T531S	probably damaging	Het
Nelfa	G	A	5: 34,059,127 (GRCm39)	P243S	possibly damaging	Het
Niban1	T	C	1: 151,512,193 (GRCm39)	Y32H	probably damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Or13c7d	T	A	4: 43,770,193 (GRCm39)	K273*	probably null	Het
Or52b2	A	C	7: 104,986,520 (GRCm39)	Y134*	probably null	Het
Or9i16	A	G	19: 13,864,861 (GRCm39)	S238P	probably damaging	Het
Otof	A	G	5: 30,539,708 (GRCm39)	I1035T	possibly damaging	Het
Otud3	A	G	4: 138,624,925 (GRCm39)	Y259H	probably benign	Het
Per1	G	T	11: 68,993,554 (GRCm39)	C368F	probably damaging	Het
Pitrm1	G	T	13: 6,605,602 (GRCm39)	R183L	probably damaging	Het
Prl3a1	C	T	13: 27,459,118 (GRCm39)	A119V		Het
Pycard	C	T	7: 127,592,776 (GRCm39)	G17E	probably benign	Het
Rnf13	A	G	3: 57,740,430 (GRCm39)	D249G	possibly damaging	Het
Sdhaf2	T	C	19: 10,494,689 (GRCm39)	Y33C	probably damaging	Het
Sdk2	A	G	11: 113,691,061 (GRCm39)	V1838A	probably benign	Het
Sgo2b	C	T	8: 64,380,274 (GRCm39)	V853I	probably benign	Het
Slc1a4	T	C	11: 20,282,403 (GRCm39)	T24A	probably benign	Het
Slc8a1	T	C	17: 81,955,407 (GRCm39)	T544A	probably benign	Het
Sntg2	T	C	12: 30,326,732 (GRCm39)	N143S	probably benign	Het
Sphkap	T	C	1: 83,254,989 (GRCm39)	E920G	probably damaging	Het
Srgap2	T	A	1: 131,252,828 (GRCm39)	H132L		Het
Srgap3	A	T	6: 112,748,524 (GRCm39)	V376D	probably damaging	Het
Stxbp5l	T	C	16: 37,036,314 (GRCm39)	K434E	probably damaging	Het
Tab2	A	T	10: 7,795,005 (GRCm39)	N492K	possibly damaging	Het
Tbc1d32	T	C	10: 56,037,246 (GRCm39)	Q666R	possibly damaging	Het
Tekt4	T	C	17: 25,692,782 (GRCm39)		probably null	Het
Tnni3k	G	A	3: 154,667,724 (GRCm39)	Q230*	probably null	Het
Trp53bp1	A	C	2: 121,066,657 (GRCm39)	S690A	probably benign	Het
Trpa1	C	A	1: 14,989,077 (GRCm39)		probably benign	Het
Trpm1	T	G	7: 63,858,132 (GRCm39)	V324G	probably damaging	Het
Usp29	A	G	7: 6,966,179 (GRCm39)	E674G	possibly damaging	Het
Vmn2r59	T	C	7: 41,661,299 (GRCm39)	R839G	probably damaging	Het
Vmn2r6	A	G	3: 64,445,724 (GRCm39)	L667P	probably damaging	Het
Vmn2r91	T	A	17: 18,356,305 (GRCm39)	F657L	possibly damaging	Het
Vps13d	A	G	4: 144,824,701 (GRCm39)	V2923A		Het
Xylb	T	A	9: 119,201,022 (GRCm39)	L220Q	probably damaging	Het
Zbtb10	C	T	3: 9,316,473 (GRCm39)	T95M	probably benign	Het
Zfp263	C	T	16: 3,567,482 (GRCm39)	P599L	probably damaging	Het
Zfp532	A	G	18: 65,789,639 (GRCm39)	E1026G	probably benign	Het
Zfp78	A	G	7: 6,382,078 (GRCm39)	N376S	probably benign	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
R1583:Ddc	UTSW	11	11,779,131 (GRCm39)	missense	probably benign	0.17
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
Z1177:Ddc	UTSW	11	11,830,552 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCCTGTTGTTAGGCAATGC -3'
(R):5'- ATGTGAAGGCAGCTTCTCCC -3'

Sequencing Primer
(F):5'- CCCTGTTGTTAGGCAATGCATGATG -3'
(R):5'- GAAGGCAGCTTCTCCCTCTCTTC -3'

Posted On

2022-09-12