Mutagenetix > Incidental Mutation

Incidental Mutation 'R1970:Ddc'

219752

Institutional Source

Beutler Lab

Gene Symbol

Ddc

Ensembl Gene

ENSMUSG00000020182

Gene Name

dopa decarboxylase

Synonyms

Aadc, aromatic L-amino acid decarboxylase

MMRRC Submission

039983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11814101-11898144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11815292 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 460 (V460A)

Ref Sequence

ENSEMBL: ENSMUSP00000136467 (fasta)

Gene Model

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

AlphaFold

O88533

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066237
AA Change: V460A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068525
Gene: ENSMUSG00000020182
AA Change: V460A

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: V460A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105286
Gene: ENSMUSG00000020182
AA Change: V460A

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

noncoding transcript
Transcript: ENSMUST00000136810

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178704
AA Change: V460A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136467
Gene: ENSMUSG00000020182
AA Change: V460A

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

0.4617

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (121/125)

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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,307,575	H578Q	probably benign	Het
Abcc12	A	G	8: 86,527,281	I958T	probably benign	Het
Abcg5	AATCATTTG	AG	17: 84,673,602		probably null	Het
Acap2	A	G	16: 31,133,527		probably null	Het
Adgrb1	T	C	15: 74,539,877		probably benign	Het
Akap6	T	A	12: 52,938,475	V897E	probably damaging	Het
Als2	A	T	1: 59,215,169	L343Q	probably benign	Het
Arhgap5	A	G	12: 52,542,593	I1275M	probably damaging	Het
Arnt	C	T	3: 95,448,393	S16L	possibly damaging	Het
Bglap3	C	T	3: 88,376,993		probably benign	Het
Blnk	T	C	19: 40,940,165		probably benign	Het
C1qtnf4	T	C	2: 90,889,659	M92T	probably damaging	Het
C77080	A	G	4: 129,226,017		probably benign	Het
Ccdc177	G	A	12: 80,758,712	R263C	unknown	Het
Ccdc83	T	A	7: 90,244,154	S132C	probably damaging	Het
Cdc7	A	G	5: 106,973,074		probably benign	Het
Cgnl1	T	A	9: 71,725,535	N178I	probably benign	Het
Col27a1	C	T	4: 63,273,117		probably benign	Het
Col5a1	A	T	2: 27,986,754	M822L	unknown	Het
Coro7	T	C	16: 4,633,756	I451V	probably benign	Het
Csmd3	T	C	15: 48,673,531	T92A	probably damaging	Het
Ddx4	C	T	13: 112,600,013	V608I	probably damaging	Het
Ddx60	A	T	8: 61,972,206	H676L	possibly damaging	Het
Dmtf1	T	C	5: 9,148,989	E48G	probably benign	Het
Dpf3	T	A	12: 83,325,035		probably null	Het
Dydc2	A	G	14: 41,061,903	C88R	probably benign	Het
Elovl4	A	G	9: 83,780,719	Y163H	probably damaging	Het
Enpp2	T	C	15: 54,882,982	D296G	probably damaging	Het
Fam83h	G	T	15: 76,006,570		probably benign	Het
Fbf1	T	A	11: 116,151,491	Q511L	possibly damaging	Het
Fhdc1	A	T	3: 84,454,851	L323Q	probably damaging	Het
Fmnl2	T	A	2: 53,105,576	V437D	possibly damaging	Het
Foxo3	A	G	10: 42,197,262	S420P	probably benign	Het
Foxp4	C	T	17: 47,875,871	R378Q	unknown	Het
Garem2	G	T	5: 30,117,174	G844*	probably null	Het
Glmp	T	C	3: 88,327,870	L269S	probably damaging	Het
Gm2000	T	G	1: 156,366,447	*124G	probably null	Het
Gm9915	T	C	1: 42,230,721		noncoding transcript	Het
Gnb4	A	T	3: 32,598,141	D27E	probably damaging	Het
Gnb5	A	G	9: 75,344,650		probably null	Het
Gpr161	T	G	1: 165,306,358	V63G	probably damaging	Het
Gsk3a	T	A	7: 25,229,721		probably benign	Het
Hapln2	T	C	3: 88,024,120		probably null	Het
Incenp	G	T	19: 9,885,487	T401N	unknown	Het
Kalrn	A	G	16: 33,977,524		probably null	Het
Kcnq3	A	G	15: 66,028,623		probably null	Het
Kif21b	T	C	1: 136,171,156	V1394A	probably damaging	Het
Klhl23	T	C	2: 69,833,686	C460R	probably damaging	Het
L3mbtl1	G	A	2: 162,959,572	A291T	probably damaging	Het
Lcp1	T	C	14: 75,200,506	S119P	probably damaging	Het
Ldhc	A	G	7: 46,869,751	I133V	probably benign	Het
Lmntd2	G	A	7: 141,212,059		probably benign	Het
Lpl	A	T	8: 68,896,802	K327*	probably null	Het
Lrp1b	T	C	2: 40,875,069	D2801G	probably damaging	Het
Mppe1	C	A	18: 67,229,772	A131S	probably benign	Het
Msh3	T	A	13: 92,249,820		probably benign	Het
Msh5	A	G	17: 35,033,600	I377T	probably damaging	Het
Myo1e	T	C	9: 70,368,773	F757L	probably benign	Het
Myof	A	T	19: 37,945,634	D955E	probably damaging	Het
Nckap1	C	T	2: 80,517,942	S889N	probably benign	Het
Ncor2	T	C	5: 125,038,918	D858G	probably damaging	Het
Neb	A	T	2: 52,263,905	V2398D	possibly damaging	Het
Nefl	C	G	14: 68,086,672	T453R	probably benign	Het
Nf1	A	G	11: 79,553,961	N371D	probably benign	Het
Nlrp4f	T	C	13: 65,194,091	Y580C	probably damaging	Het
Nme8	A	C	13: 19,652,322	L228R	probably damaging	Het
Numa1	C	T	7: 102,009,322	A1605V	probably damaging	Het
Ofd1	T	C	X: 166,427,214	Y205C	probably benign	Het
Olfr1047	T	A	2: 86,228,252	T240S	probably damaging	Het
Olfr1283	C	T	2: 111,369,076	S148L	probably benign	Het
Olfr1532-ps1	G	A	7: 106,914,246	G16D	probably damaging	Het
Olfr693	T	A	7: 106,677,670	N272I	probably damaging	Het
Olfr972	T	A	9: 39,873,938	I221N	probably damaging	Het
Pclo	A	G	5: 14,713,473	T3987A	unknown	Het
Pdgfrb	G	A	18: 61,066,494		probably benign	Het
Pdxk	G	A	10: 78,441,154	T270I	probably damaging	Het
Pex5	T	C	6: 124,414,405	E10G	probably damaging	Het
Pik3c2g	T	A	6: 139,900,386		probably null	Het
Pkhd1	T	A	1: 20,381,523	I2183F	probably damaging	Het
Plppr2	T	C	9: 21,941,126	V102A	probably damaging	Het
Plxnd1	T	C	6: 115,962,517	T1449A	probably damaging	Het
Pnkd	T	A	1: 74,285,910		probably null	Het
Pom121l2	A	G	13: 21,983,472	I638V	probably damaging	Het
Prag1	A	G	8: 36,129,160		probably null	Het
Ranbp10	A	G	8: 105,786,708	F191L	probably damaging	Het
Rapgef1	T	C	2: 29,733,711	L824P	probably damaging	Het
Rec8	T	C	14: 55,624,142	L418P	probably damaging	Het
Rimbp2	T	A	5: 128,797,241	N429Y	probably damaging	Het
Rpe65	C	A	3: 159,615,670	T373K	probably benign	Het
Rrn3	T	C	16: 13,789,074	S151P	probably damaging	Het
Scn7a	A	G	2: 66,684,289	V1047A	possibly damaging	Het
Scn9a	G	T	2: 66,515,380	P1123Q	probably damaging	Het
Secisbp2l	T	C	2: 125,747,510	D706G	probably damaging	Het
Serpina5	A	T	12: 104,103,857	T338S	probably benign	Het
Sez6	G	A	11: 77,954,068		probably null	Het
Shisa4	C	T	1: 135,372,274	G157D	probably damaging	Het
Slc1a7	G	T	4: 107,968,585	D14Y	probably benign	Het
Slc25a11	A	C	11: 70,646,173	L51V	probably benign	Het
Slit3	A	G	11: 35,630,841		probably null	Het
Spata13	G	T	14: 60,691,463	G157W	probably damaging	Het
Spta1	T	C	1: 174,240,367	V2120A	possibly damaging	Het
Srpr	T	C	9: 35,213,538		probably null	Het
Syt6	A	G	3: 103,587,420	I234V	probably benign	Het
Thada	G	T	17: 84,310,042	P1349T	probably damaging	Het
Tmem161a	C	T	8: 70,176,909	R58W	probably damaging	Het
Top3b	A	G	16: 16,883,519	I232V	probably damaging	Het
Tspan1	T	A	4: 116,163,629	Q197L	possibly damaging	Het
Ttc28	A	C	5: 111,235,635	Y1334S	probably benign	Het
Ubxn6	G	T	17: 56,073,077	N28K	possibly damaging	Het
Uggt1	T	C	1: 36,151,781	D1366G	probably damaging	Het
Ugp2	A	G	11: 21,328,942	S415P	probably damaging	Het
Vcan	A	T	13: 89,689,038	S2796T	probably damaging	Het
Vipr2	T	C	12: 116,136,206	V231A	probably benign	Het
Vmn1r176	T	C	7: 23,834,948	N260S	probably benign	Het
Vmn1r59	A	T	7: 5,454,039	Y241N	probably damaging	Het
Vmn2r67	A	T	7: 85,151,805	Y308N	probably benign	Het
Vmn2r75	A	T	7: 86,148,262	M781K	probably damaging	Het
Vwa3a	A	T	7: 120,780,171	I500F	probably damaging	Het
Zfp609	A	G	9: 65,795,277	V31A	probably damaging	Het
Zfp689	G	T	7: 127,444,787	Q224K	probably damaging	Het
Zfp81	A	T	17: 33,335,501	L113H	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	splice site	probably null
R1583:Ddc	UTSW	11	11829131	missense	probably benign	0.17
R1929:Ddc	UTSW	11	11835764	missense	probably damaging	1.00
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'- TGCCACTCCTGACTGACTATG -3'
(R):5'- TACCGTCTCTAGGTGTTACTAGAC -3'

Sequencing Primer
(F):5'- ACTCCTGACTGACTATGATAGTTTTC -3'
(R):5'- CTAGACTTTGTGTTATACGATGGATC -3'

Posted On

2014-08-25