Mutagenetix > Incidental Mutation

Incidental Mutation 'R9200:Ddc'

698186

Institutional Source

Beutler Lab

Gene Symbol

Ddc

Ensembl Gene

ENSMUSG00000020182

Gene Name

dopa decarboxylase

Synonyms

Aadc, aromatic L-amino acid decarboxylase

MMRRC Submission

068957-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9200 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11764101-11848144 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11765388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 428 (N428S)

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: N428S

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068525
Gene: ENSMUSG00000020182
AA Change: N428S

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: N428S

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105286
Gene: ENSMUSG00000020182
AA Change: N428S

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

possibly damaging
Transcript: ENSMUST00000178704
AA Change: N428S

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136467
Gene: ENSMUSG00000020182
AA Change: N428S

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

0.4937

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (71/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	C	A	7: 119,179,839 (GRCm39)	Y352*	probably null	Het
Adh7	C	T	3: 137,927,567 (GRCm39)	R38C	probably benign	Het
Ankrd2	A	T	19: 42,028,871 (GRCm39)	T145S		Het
Anpep	T	C	7: 79,490,870 (GRCm39)	N241D	probably benign	Het
Apaf1	G	A	10: 90,845,102 (GRCm39)	L990F	probably benign	Het
Arsi	A	G	18: 61,049,836 (GRCm39)	T240A	possibly damaging	Het
Ascc3	A	G	10: 50,521,787 (GRCm39)	E434G	possibly damaging	Het
Atp2c2	A	T	8: 120,474,999 (GRCm39)	K535*	probably null	Het
B3galt4	A	G	17: 34,170,384 (GRCm39)		probably benign	Het
Brwd1	C	G	16: 95,839,154 (GRCm39)	C839S	probably benign	Het
Cars1	C	T	7: 143,129,654 (GRCm39)		probably null	Het
Catsperd	T	A	17: 56,935,229 (GRCm39)	V14D	unknown	Het
Ccdc150	A	C	1: 54,299,197 (GRCm39)	T58P	probably damaging	Het
Cdhr17	T	C	5: 17,006,659 (GRCm39)		probably null	Het
Cdon	A	G	9: 35,414,617 (GRCm39)	D1164G	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cic	A	C	7: 24,971,940 (GRCm39)	D557A	probably damaging	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Dach1	G	T	14: 98,065,743 (GRCm39)	R695S	probably damaging	Het
Dnah6	G	A	6: 73,004,497 (GRCm39)	T3822I	probably benign	Het
Dnmt1	T	A	9: 20,819,896 (GRCm39)	M1535L	probably benign	Het
Edc4	T	C	8: 106,617,051 (GRCm39)		probably null	Het
Emilin2	A	G	17: 71,581,229 (GRCm39)	I499T	possibly damaging	Het
Etl4	A	G	2: 20,786,702 (GRCm39)	D766G	probably damaging	Het
Fes	T	C	7: 80,032,140 (GRCm39)	Q414R	probably benign	Het
Fhod1	A	G	8: 106,058,072 (GRCm39)	V844A	probably benign	Het
Fshr	A	T	17: 89,354,103 (GRCm39)	V85E	probably benign	Het
Gc	T	C	5: 89,593,236 (GRCm39)	N61S	probably benign	Het
Hapstr1	T	C	16: 8,673,898 (GRCm39)	L275P	possibly damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Itga1	A	T	13: 115,104,997 (GRCm39)	I1059N	possibly damaging	Het
Itpr3	T	A	17: 27,326,636 (GRCm39)	V1426E	probably damaging	Het
Jag1	T	A	2: 136,929,044 (GRCm39)	Y804F	probably benign	Het
Lama3	A	G	18: 12,605,297 (GRCm39)	T1084A	probably benign	Het
Mdn1	A	G	4: 32,760,791 (GRCm39)	D4952G	probably benign	Het
Mmrn1	A	G	6: 60,953,860 (GRCm39)	T714A	probably damaging	Het
Nab1	T	A	1: 52,529,525 (GRCm39)	H124L	possibly damaging	Het
Nacc2	A	G	2: 25,980,118 (GRCm39)	F106S	probably damaging	Het
Nbeal1	T	C	1: 60,320,425 (GRCm39)	I2006T	probably damaging	Het
Nkpd1	C	A	7: 19,257,683 (GRCm39)	H487Q	probably benign	Het
Nop2	G	A	6: 125,117,843 (GRCm39)		probably null	Het
Or10ag54	T	A	2: 87,100,055 (GRCm39)	M310K	probably benign	Het
Or5b124	A	G	19: 13,610,595 (GRCm39)	N40S	probably damaging	Het
Otud6b	A	T	4: 14,811,712 (GRCm39)	Y310*	probably null	Het
Phyh	A	T	2: 4,932,247 (GRCm39)	Y111F	probably benign	Het
Pon3	A	G	6: 5,240,863 (GRCm39)	L106P	probably benign	Het
Ppp6r3	T	C	19: 3,519,748 (GRCm39)	D615G	probably damaging	Het
Pramel23	G	A	4: 143,423,856 (GRCm39)	P311L	possibly damaging	Het
Prdm10	G	A	9: 31,268,438 (GRCm39)	V796I	probably damaging	Het
Prkdc	G	T	16: 15,523,153 (GRCm39)	V1192F	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rab39	T	C	9: 53,597,665 (GRCm39)	N200S	probably benign	Het
Rcc2	A	G	4: 140,445,664 (GRCm39)	I441V	probably benign	Het
Rxra	G	A	2: 27,627,496 (GRCm39)	V72I	possibly damaging	Het
Ryr1	T	G	7: 28,794,524 (GRCm39)	Q1252P	probably benign	Het
Sectm1a	T	C	11: 120,960,473 (GRCm39)	Y114C	probably damaging	Het
Smim1	T	C	4: 154,108,276 (GRCm39)		probably null	Het
Smpd2	C	T	10: 41,363,561 (GRCm39)	D301N	probably benign	Het
Smyd3	T	C	1: 179,232,963 (GRCm39)	D139G	probably benign	Het
Sox13	C	T	1: 133,313,743 (GRCm39)	C399Y	probably damaging	Het
Tars3	A	G	7: 65,302,013 (GRCm39)	E179G	probably benign	Het
Tas2r138	A	G	6: 40,589,494 (GRCm39)	F251L	probably damaging	Het
Tesk1	A	G	4: 43,447,307 (GRCm39)	E565G	probably damaging	Het
Tm2d1	A	T	4: 98,246,200 (GRCm39)	F201I	possibly damaging	Het
Tom1l2	C	A	11: 60,120,942 (GRCm39)	D501Y	probably benign	Het
Trim39	G	T	17: 36,579,667 (GRCm39)	T96K	probably benign	Het
Ubash3a	A	G	17: 31,436,971 (GRCm39)	H196R	probably damaging	Het
Unc13b	A	G	4: 43,257,352 (GRCm39)	E1206G	possibly damaging	Het
Usp17lc	A	T	7: 103,068,105 (GRCm39)	T467S	probably benign	Het
Vmn1r128	T	C	7: 21,083,316 (GRCm39)	S7P	possibly damaging	Het
Vmn1r185	T	A	7: 26,311,073 (GRCm39)	H144L	possibly damaging	Het
Wfdc6b	A	T	2: 164,455,708 (GRCm39)	R12S	possibly damaging	Het
Zmynd8	A	T	2: 165,682,005 (GRCm39)	D175E	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
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'- GGTGCAGCTAGCTTACCTGAAG -3'
(R):5'- ACGCTATCACAGGGAGAAGTTATC -3'

Sequencing Primer
(F):5'- GATCACTGATGTGTTCCC -3'
(R):5'- AAGCCCATGTTAGTCATTTCATC -3'

Posted On

2022-02-07