Mutagenetix > Incidental Mutation

Incidental Mutation 'R9614:Dao'

724430

Institutional Source

Beutler Lab

Gene Symbol

Dao

Ensembl Gene

ENSMUSG00000042096

Gene Name

D-amino acid oxidase

Synonyms

DAO, Dao-1, Dao1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9614 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114141764-114163743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114152060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 126 (D126V)

Ref Sequence

ENSEMBL: ENSMUSP00000107911 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086599
AA Change: D126V

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000083792
Gene: ENSMUSG00000042096
AA Change: D126V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112292
AA Change: D126V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107911
Gene: ENSMUSG00000042096
AA Change: D126V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161610
AA Change: D126V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125588
Gene: ENSMUSG00000042096
AA Change: D126V

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

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,767,364 (GRCm39)	T317I	possibly damaging	Het
Adamts7	T	A	9: 90,077,251 (GRCm39)	V1306E	probably damaging	Het
Adcy9	C	T	16: 4,106,547 (GRCm39)	D1093N	probably damaging	Het
Adgra3	A	G	5: 50,164,250 (GRCm39)	V243A	probably damaging	Het
Aqp4	C	T	18: 15,526,687 (GRCm39)	A265T	probably benign	Het
Atad2	A	T	15: 57,970,119 (GRCm39)		probably null	Het
Atp13a4	A	G	16: 29,260,398 (GRCm39)	V560A		Het
Best2	A	C	8: 85,740,051 (GRCm39)	C38G		Het
Bicra	A	T	7: 15,705,880 (GRCm39)	S1520R	probably damaging	Het
C1s2	A	G	6: 124,602,588 (GRCm39)	L541P	probably damaging	Het
Calcoco2	T	A	11: 95,991,185 (GRCm39)	H184L	probably benign	Het
Cav1	A	T	6: 17,339,403 (GRCm39)	I163F	probably benign	Het
Cep57l1	T	C	10: 41,597,563 (GRCm39)	H356R	probably damaging	Het
Clu	A	C	14: 66,208,851 (GRCm39)	H32P	unknown	Het
Col5a1	T	A	2: 27,879,186 (GRCm39)	D840E	unknown	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Csmd1	C	A	8: 16,208,239 (GRCm39)	V1239L	probably benign	Het
Cubn	T	A	2: 13,482,945 (GRCm39)	Q267L	probably benign	Het
Cul7	C	T	17: 46,975,212 (GRCm39)	R1689W	probably damaging	Het
Eif3l	T	C	15: 78,978,423 (GRCm39)	M560T	probably benign	Het
F830016B08Rik	T	A	18: 60,433,379 (GRCm39)	I154N	probably damaging	Het
Fam184a	T	C	10: 53,517,144 (GRCm39)	E980G	probably damaging	Het
Fgf21	T	C	7: 45,264,703 (GRCm39)	T10A	probably benign	Het
Fhad1	A	C	4: 141,678,882 (GRCm39)	V598G	possibly damaging	Het
Foxc1	A	T	13: 31,991,863 (GRCm39)	I225F	possibly damaging	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Galnt9	G	A	5: 110,744,047 (GRCm39)	G294S	probably damaging	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Idh2	A	T	7: 79,747,925 (GRCm39)	Y258*	probably null	Het
Immp2l	T	C	12: 41,160,933 (GRCm39)	V77A	probably damaging	Het
Isl1	T	C	13: 116,441,924 (GRCm39)	E103G		Het
Itgad	A	T	7: 127,803,022 (GRCm39)	T1059S	probably damaging	Het
Kcnj6	G	A	16: 94,633,307 (GRCm39)	T268I	probably damaging	Het
Lgals3bp	A	G	11: 118,284,037 (GRCm39)	V514A	probably benign	Het
Mcfd2	A	T	17: 87,565,421 (GRCm39)	H27Q	probably benign	Het
Mettl13	A	G	1: 162,364,769 (GRCm39)	W537R	probably damaging	Het
Mybl2	G	T	2: 162,906,225 (GRCm39)	G102V	probably damaging	Het
Nars2	C	T	7: 96,689,125 (GRCm39)	T349M	probably damaging	Het
Nat8f3	A	T	6: 85,738,708 (GRCm39)	V18E		Het
Npepps	T	C	11: 97,149,177 (GRCm39)	E115G	probably benign	Het
Odad3	T	C	9: 21,904,310 (GRCm39)	D322G	probably benign	Het
Oog2	T	A	4: 143,922,707 (GRCm39)	V324E	probably damaging	Het
Or2y12	T	A	11: 49,426,071 (GRCm39)	W20R	probably damaging	Het
Or7g12	A	T	9: 18,899,526 (GRCm39)	M81L	possibly damaging	Het
Or8d2b	G	A	9: 38,789,281 (GRCm39)	V270M	probably damaging	Het
Or8j3b	A	G	2: 86,205,012 (GRCm39)	V248A	probably damaging	Het
Pdzd2	A	G	15: 12,375,486 (GRCm39)	S1550P	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pms2	T	C	5: 143,854,420 (GRCm39)	V243A	probably benign	Het
Ptpn9	A	G	9: 56,944,005 (GRCm39)	D293G	probably benign	Het
Ptprb	A	G	10: 116,203,441 (GRCm39)	K1784R	probably damaging	Het
Rab23	CAA	CA	1: 33,764,077 (GRCm39)		probably null	Het
Raf1	T	C	6: 115,596,597 (GRCm39)	N576D	probably benign	Het
Rasa4	C	A	5: 136,140,343 (GRCm39)	H782Q	possibly damaging	Het
Rims1	C	A	1: 22,491,969 (GRCm39)	E168*	probably null	Het
Rpgrip1l	A	T	8: 91,987,434 (GRCm39)	N874K	possibly damaging	Het
Rxfp4	C	T	3: 88,559,969 (GRCm39)	V161I	possibly damaging	Het
Scel	G	A	14: 103,843,032 (GRCm39)	G558D	probably damaging	Het
Sipa1l2	T	C	8: 126,196,565 (GRCm39)	K723R	probably null	Het
Slc12a1	A	T	2: 125,002,445 (GRCm39)	R142W	probably damaging	Het
Slc27a2	T	A	2: 126,409,736 (GRCm39)	V306D	probably damaging	Het
Sox4	C	T	13: 29,136,079 (GRCm39)	G309D	probably damaging	Het
Terb1	T	C	8: 105,223,476 (GRCm39)	T111A	probably benign	Het
Tgfa	G	A	6: 86,248,397 (GRCm39)	R133H	probably damaging	Het
Ticrr	T	C	7: 79,345,754 (GRCm39)	S1836P	probably damaging	Het
Tlk2	A	G	11: 105,138,328 (GRCm39)	D292G	probably benign	Het
Tmc7	A	G	7: 118,141,160 (GRCm39)	I657T	probably benign	Het
Tmprss11c	G	A	5: 86,383,379 (GRCm39)	T349I	probably benign	Het
Trhr	A	G	15: 44,060,981 (GRCm39)	N167S	probably benign	Het
Tsc22d1	T	G	14: 76,653,983 (GRCm39)	I154S	probably damaging	Het
Vmn1r2	T	C	4: 3,172,587 (GRCm39)	Y169H	probably damaging	Het
Vmn1r77	G	T	7: 11,775,766 (GRCm39)	V181L	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
R7968:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- GGTCCACTGAGACTTCTGTC -3'
(R):5'- GTGTCTTTGCCCATGACAGG -3'

Sequencing Primer
(F):5'- AGCCTGTCTGTAAGGATGCAC -3'
(R):5'- CCATGACAGGTGTTAAGTCCCAG -3'

Posted On

2022-09-12