Mutagenetix > Incidental Mutation

Incidental Mutation 'R7968:Dao'

650456

Institutional Source

Beutler Lab

Gene Symbol

Dao

Ensembl Gene

ENSMUSG00000042096

Gene Name

D-amino acid oxidase

Synonyms

DAO, Dao-1, Dao1

MMRRC Submission

046011-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R7968 (G1)

Quality Score

182.468

Status

Validated

Chromosome

Chromosomal Location

114141764-114163743 bp(+) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

AGG to AG at 114153270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086599] [ENSMUST00000112292] [ENSMUST00000161610]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000086599

SMART Domains

Protein: ENSMUSP00000083792
Gene: ENSMUSG00000042096

Domain	Start	End	E-Value	Type
Pfam:DAO	2	245	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112292

SMART Domains

Protein: ENSMUSP00000107911
Gene: ENSMUSG00000042096

Domain	Start	End	E-Value	Type
Pfam:DAO	2	327	1.8e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161610

SMART Domains

Protein: ENSMUSP00000125588
Gene: ENSMUSG00000042096

Domain	Start	End	E-Value	Type
Pfam:DAO	2	327	4.5e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000199175

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display increased levels of D-serine and a decrease in the severity of behavioral effects induced by NMDA receptor antagonists. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,922,441 (GRCm39)	T35A		Het
Adamts16	A	C	13: 70,886,701 (GRCm39)	S1030A	probably benign	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Aff4	C	T	11: 53,300,175 (GRCm39)	T1026I	probably damaging	Het
Arfgef1	T	C	1: 10,243,145 (GRCm39)	Y1065C	probably damaging	Het
Arhgef3	G	T	14: 27,108,070 (GRCm39)	D192Y	probably damaging	Het
Arhgef3	G	A	14: 27,116,062 (GRCm39)	R268Q	probably damaging	Het
Atp6v0e	T	A	17: 26,913,885 (GRCm39)		probably null	Het
B3galt9	A	G	2: 34,728,257 (GRCm39)	N19D	probably damaging	Het
Cenpc1	A	G	5: 86,181,551 (GRCm39)	Y605H	probably benign	Het
Cftr	T	C	6: 18,226,048 (GRCm39)	V332A	probably benign	Het
Csmd2	A	G	4: 128,091,118 (GRCm39)	H219R		Het
Csnk1g3	C	T	18: 54,028,726 (GRCm39)		probably benign	Het
Cyp4f17	T	C	17: 32,743,116 (GRCm39)	V263A	possibly damaging	Het
Entrep1	G	T	19: 23,962,091 (GRCm39)	T304K	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Gstm4	A	T	3: 107,951,677 (GRCm39)	M35K	probably damaging	Het
Kcna2	A	G	3: 107,012,460 (GRCm39)	Y347C	possibly damaging	Het
Kcnh7	G	A	2: 62,566,444 (GRCm39)	T829M	probably damaging	Het
Kcnu1	T	C	8: 26,400,898 (GRCm39)	V682A	probably benign	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kera	A	G	10: 97,444,821 (GRCm39)	E60G	possibly damaging	Het
Letm2	C	T	8: 26,083,766 (GRCm39)	G155D	probably damaging	Het
Lrfn4	G	A	19: 4,663,343 (GRCm39)	A397V	probably benign	Het
Lrp4	A	G	2: 91,324,424 (GRCm39)	Q1253R	possibly damaging	Het
Mob1a	T	A	6: 83,315,287 (GRCm39)	M145K	probably benign	Het
Nab1	A	G	1: 52,529,295 (GRCm39)	C201R	probably damaging	Het
Nlrp9b	A	G	7: 19,762,493 (GRCm39)	E710G	probably benign	Het
Oas2	A	G	5: 120,876,437 (GRCm39)	V502A	probably benign	Het
Or1e26	T	C	11: 73,480,154 (GRCm39)	S137G	probably benign	Het
Or52d3	T	A	7: 104,229,595 (GRCm39)	C247*	probably null	Het
Or52h7	A	T	7: 104,213,857 (GRCm39)	H143L	probably benign	Het
Parg	A	T	14: 31,936,327 (GRCm39)	H494L	possibly damaging	Het
Phf20	T	A	2: 156,135,464 (GRCm39)	D600E	probably benign	Het
Ppef2	G	A	5: 92,397,022 (GRCm39)	R118C	probably damaging	Het
Ptprz1	T	A	6: 22,959,675 (GRCm39)	N57K	probably damaging	Het
Rrbp1	A	T	2: 143,832,081 (GRCm39)	S29T	probably damaging	Het
Sema3g	C	A	14: 30,942,605 (GRCm39)	R69S	probably damaging	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Slc4a3	A	G	1: 75,528,007 (GRCm39)	T419A	probably benign	Het
Smc3	T	C	19: 53,611,649 (GRCm39)		probably null	Het
Sntg1	C	T	1: 8,535,760 (GRCm39)	W288*	probably null	Het
Synpo2l	G	T	14: 20,716,870 (GRCm39)		probably null	Het
Tap1	A	G	17: 34,413,886 (GRCm39)	I634V	probably damaging	Het
Tmem25	A	G	9: 44,706,983 (GRCm39)	S278P	probably benign	Het
Togaram2	T	C	17: 72,024,428 (GRCm39)	S871P	probably benign	Het
Trim37	T	C	11: 87,040,179 (GRCm39)	V225A	possibly damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het

Other mutations in Dao

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Dao	APN	5	114,161,881 (GRCm39)	splice site	probably benign
IGL02499:Dao	APN	5	114,152,002 (GRCm39)	missense	possibly damaging	0.77
IGL03063:Dao	APN	5	114,159,076 (GRCm39)	missense	probably damaging	1.00
IGL03054:Dao	UTSW	5	114,162,963 (GRCm39)	missense	probably damaging	1.00
R0127:Dao	UTSW	5	114,158,024 (GRCm39)	missense	probably damaging	1.00
R4461:Dao	UTSW	5	114,157,987 (GRCm39)	missense	probably damaging	1.00
R4747:Dao	UTSW	5	114,150,693 (GRCm39)	missense	probably benign	0.12
R5176:Dao	UTSW	5	114,158,070 (GRCm39)	critical splice donor site	probably null
R5226:Dao	UTSW	5	114,159,094 (GRCm39)	missense	probably benign	0.00
R7388:Dao	UTSW	5	114,153,273 (GRCm39)	makesense	probably null
R7969:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R7970:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R7971:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R7972:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R7973:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R8018:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R8020:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R8045:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R8123:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R8124:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R9376:Dao	UTSW	5	114,147,901 (GRCm39)	start codon destroyed	probably null	1.00
R9614:Dao	UTSW	5	114,152,060 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCACTGTTACCCCACAATGC -3'
(R):5'- CAACCGAAATCTGCCAAGTG -3'

Sequencing Primer
(F):5'- AATGCTACCTAGTGGCTCAGC -3'
(R):5'- CCGAAATCTGCCAAGTGGGTTG -3'

Posted On

2020-09-15