Mutagenetix > Incidental Mutation

Incidental Mutation 'R2034:Ddc'

224353

Institutional Source

Beutler Lab

Gene Symbol

Ddc

Ensembl Gene

ENSMUSG00000020182

Gene Name

dopa decarboxylase

Synonyms

Aadc, aromatic L-amino acid decarboxylase

MMRRC Submission

040041-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11764101-11848144 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11830456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 63 (I63L)

Ref Sequence

ENSEMBL: ENSMUSP00000136467 (fasta)

Gene Model

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

AlphaFold

O88533

Predicted Effect

probably benign
Transcript: ENSMUST00000066237
AA Change: I63L

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068525
Gene: ENSMUSG00000020182
AA Change: I63L

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: I63L

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105286
Gene: ENSMUSG00000020182
AA Change: I63L

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

probably benign
Transcript: ENSMUST00000155690
AA Change: I63L

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121096
Gene: ENSMUSG00000020182
AA Change: I63L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178704
AA Change: I63L

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136467
Gene: ENSMUSG00000020182
AA Change: I63L

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

0.0677

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,385 (GRCm39)	I65V	probably benign	Het
Abca13	A	G	11: 9,242,628 (GRCm39)	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,726,061 (GRCm39)	N184K	probably benign	Het
Ampd2	A	T	3: 107,984,679 (GRCm39)	I459N	possibly damaging	Het
Anapc1	T	C	2: 128,490,378 (GRCm39)	D1018G	possibly damaging	Het
Ano9	T	A	7: 140,688,048 (GRCm39)	I223F	probably damaging	Het
B3gnt6	A	G	7: 97,843,225 (GRCm39)	L245P	possibly damaging	Het
Bag6	G	A	17: 35,363,668 (GRCm39)	R784Q	probably damaging	Het
Brca1	C	G	11: 101,380,675 (GRCm39)	S1786T	probably benign	Het
Btbd3	T	G	2: 138,120,903 (GRCm39)	S26A	probably benign	Het
Cacna1d	C	A	14: 29,811,820 (GRCm39)	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491 (GRCm39)	T6I	probably damaging	Het
Col7a1	T	C	9: 108,792,075 (GRCm39)	V1262A	unknown	Het
Crh	C	A	3: 19,748,262 (GRCm39)	G127C	probably damaging	Het
D5Ertd579e	A	T	5: 36,770,882 (GRCm39)	L64*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Eif3a	C	T	19: 60,750,568 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,819,838 (GRCm39)	N5190K	probably benign	Het
Gm5420	A	G	10: 21,567,512 (GRCm39)		noncoding transcript	Het
Grb14	A	G	2: 64,753,873 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,475,593 (GRCm39)	I545F	probably damaging	Het
Hectd1	A	T	12: 51,803,899 (GRCm39)		probably null	Het
Helz2	G	A	2: 180,874,371 (GRCm39)	P2041L	probably damaging	Het
Herc1	G	A	9: 66,349,254 (GRCm39)	A2038T	probably benign	Het
Il10	C	A	1: 130,951,922 (GRCm39)	Q152K	probably benign	Het
Klrg1	A	G	6: 122,256,596 (GRCm39)		probably null	Het
Lrig2	T	C	3: 104,401,408 (GRCm39)	T160A	probably benign	Het
Mmd2	A	T	5: 142,560,939 (GRCm39)		probably null	Het
Mmp2	C	T	8: 93,563,540 (GRCm39)	S338F	probably damaging	Het
Nalcn	T	G	14: 123,521,015 (GRCm39)	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,235,207 (GRCm39)	S909G	probably benign	Het
Neb	A	T	2: 52,170,623 (GRCm39)	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,435,350 (GRCm39)	I637V	possibly damaging	Het
Npw	G	A	17: 24,877,242 (GRCm39)	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,111,343 (GRCm39)		probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nup188	T	A	2: 30,200,097 (GRCm39)		probably benign	Het
Or4k15c	T	C	14: 50,321,440 (GRCm39)	M233V	probably benign	Het
Or5b21	T	A	19: 12,839,151 (GRCm39)	M4K	possibly damaging	Het
Parp4	A	T	14: 56,871,720 (GRCm39)	I1133F	probably damaging	Het
Pcdhb11	T	C	18: 37,555,546 (GRCm39)	V292A	probably benign	Het
Pcnx2	A	G	8: 126,545,406 (GRCm39)		probably null	Het
Phf2	A	G	13: 48,971,206 (GRCm39)	S489P	unknown	Het
Pik3r5	T	A	11: 68,384,403 (GRCm39)	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,261,516 (GRCm39)	E432D	probably damaging	Het
Pink1	T	C	4: 138,045,343 (GRCm39)	I274V	possibly damaging	Het
Pkhd1	G	A	1: 20,270,893 (GRCm39)	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,462,902 (GRCm39)	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,015,124 (GRCm39)	V492A	possibly damaging	Het
Prp2	G	T	6: 132,572,947 (GRCm39)		probably null	Het
Rabl6	T	C	2: 25,475,444 (GRCm39)	E543G	possibly damaging	Het
Rgp1	T	A	4: 43,581,605 (GRCm39)		probably null	Het
Rps6kb2	T	C	19: 4,211,106 (GRCm39)	T140A	probably damaging	Het
S100a11	T	C	3: 93,433,429 (GRCm39)	I91T	probably benign	Het
Serpine2	A	G	1: 79,774,569 (GRCm39)	L230P	probably damaging	Het
Sh3tc2	A	G	18: 62,120,737 (GRCm39)	D370G	probably damaging	Het
Sim2	A	C	16: 93,886,801 (GRCm39)	I43L	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,226,798 (GRCm39)	L419P	probably damaging	Het
Srgap1	C	T	10: 121,628,651 (GRCm39)	E817K	probably damaging	Het
Stag3	A	G	5: 138,296,263 (GRCm39)	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,890,645 (GRCm39)	N361S	probably damaging	Het
Tmco6	A	G	18: 36,870,909 (GRCm39)		probably null	Het
Tmem104	T	A	11: 115,134,373 (GRCm39)	I303N	probably benign	Het
Ttll6	G	T	11: 96,026,352 (GRCm39)	D86Y	probably damaging	Het
Tut4	C	T	4: 108,369,392 (GRCm39)	R651W	probably damaging	Het
Vmn1r120	T	G	7: 20,786,883 (GRCm39)	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,886,988 (GRCm39)	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,262,242 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,381,868 (GRCm39)	K568*	probably null	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
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'- GAGCTTCATGGACCACCTAAC -3'
(R):5'- GGCAGTTTTCAACATGGATTCC -3'

Sequencing Primer
(F):5'- AACTTCTCTAAACCTAAGCTGTCTC -3'
(R):5'- ATTCCCGTGAATTCCGGAG -3'

Posted On

2014-08-25