Incidental Mutation 'R4461:Dao'
| ID |
386437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dao
|
| Ensembl Gene |
ENSMUSG00000042096 |
| Gene Name |
D-amino acid oxidase |
| Synonyms |
DAO, Dao-1, Dao1 |
| MMRRC Submission |
041720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4461 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114141764-114163743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 114157987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 203
(V203E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086599]
[ENSMUST00000112292]
[ENSMUST00000161610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086599
AA Change: V203E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083792
Gene: ENSMUSG00000042096
AA Change: V203E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
2 |
245 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112292
AA Change: V203E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107911
Gene: ENSMUSG00000042096
AA Change: V203E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
2 |
327 |
1.8e-39 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161610
AA Change: V203E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125588
Gene: ENSMUSG00000042096
AA Change: V203E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
2 |
327 |
4.5e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162214
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199175
|
| Meta Mutation Damage Score |
0.9244 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (50/50) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
T |
C |
17: 66,292,932 (GRCm39) |
|
probably null |
Het |
| Apex1 |
T |
C |
14: 51,163,970 (GRCm39) |
V165A |
probably damaging |
Het |
| Btbd17 |
C |
T |
11: 114,684,815 (GRCm39) |
D75N |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,190,622 (GRCm39) |
|
probably benign |
Het |
| Coq10a |
T |
C |
10: 128,200,347 (GRCm39) |
N138S |
possibly damaging |
Het |
| Ctbp1 |
A |
T |
5: 33,408,357 (GRCm39) |
Y192N |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,507,184 (GRCm39) |
*396W |
probably null |
Het |
| D6Ertd527e |
T |
C |
6: 87,088,299 (GRCm39) |
I154T |
unknown |
Het |
| Egr4 |
G |
A |
6: 85,489,322 (GRCm39) |
A246V |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| H2-Eb2 |
T |
A |
17: 34,552,497 (GRCm39) |
V114E |
possibly damaging |
Het |
| Hpgds |
A |
G |
6: 65,100,618 (GRCm39) |
L120P |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,193,659 (GRCm39) |
V464I |
probably benign |
Het |
| Kank2 |
G |
A |
9: 21,706,041 (GRCm39) |
Q326* |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Klkb1 |
A |
G |
8: 45,726,612 (GRCm39) |
S464P |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,760,263 (GRCm39) |
Y529H |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,504,874 (GRCm39) |
V3478A |
probably benign |
Het |
| Knl1 |
A |
C |
2: 118,890,080 (GRCm39) |
N44T |
probably benign |
Het |
| Letm2 |
A |
G |
8: 26,076,715 (GRCm39) |
C296R |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,355,180 (GRCm39) |
|
probably null |
Het |
| Med20 |
T |
C |
17: 47,929,842 (GRCm39) |
V93A |
probably benign |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Muc1 |
A |
T |
3: 89,138,870 (GRCm39) |
D493V |
probably damaging |
Het |
| Nek2 |
C |
T |
1: 191,554,827 (GRCm39) |
P180S |
probably damaging |
Het |
| Nin |
A |
T |
12: 70,089,359 (GRCm39) |
M1352K |
probably benign |
Het |
| Or5aq1 |
T |
C |
2: 86,966,005 (GRCm39) |
H220R |
probably benign |
Het |
| P3h3 |
A |
T |
6: 124,822,531 (GRCm39) |
S547T |
probably benign |
Het |
| Pik3c2g |
C |
T |
6: 139,787,407 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,359,345 (GRCm39) |
|
probably null |
Het |
| Pzp |
T |
C |
6: 128,501,003 (GRCm39) |
I118M |
probably benign |
Het |
| Rps6ka5 |
C |
A |
12: 100,537,123 (GRCm39) |
D536Y |
probably damaging |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Siglece |
T |
C |
7: 43,300,929 (GRCm39) |
Q462R |
probably benign |
Het |
| Sirt3 |
T |
C |
7: 140,444,913 (GRCm39) |
D295G |
possibly damaging |
Het |
| Snph |
G |
A |
2: 151,435,767 (GRCm39) |
S318L |
probably benign |
Het |
| Snx18 |
T |
C |
13: 113,753,731 (GRCm39) |
T401A |
probably damaging |
Het |
| Tefm |
A |
G |
11: 80,028,875 (GRCm39) |
|
probably null |
Het |
| Thada |
T |
C |
17: 84,733,665 (GRCm39) |
Y994C |
probably damaging |
Het |
| Trmt1 |
A |
G |
8: 85,425,778 (GRCm39) |
N531D |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,196,916 (GRCm39) |
V477A |
probably benign |
Het |
| Ubxn10 |
T |
A |
4: 138,448,187 (GRCm39) |
Q163L |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,985,950 (GRCm39) |
I908N |
possibly damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,983,917 (GRCm39) |
L395P |
probably damaging |
Het |
| Zscan12 |
C |
T |
13: 21,550,789 (GRCm39) |
S136L |
possibly damaging |
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 |
|
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 |
|
R9614:Dao
|
UTSW |
5 |
114,152,060 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGGGTGTGGCCATATGC -3'
(R):5'- CGAAATCTCGCCAATCCAGG -3'
Sequencing Primer
(F):5'- CAATGGGTGTGGCCATATGCATATAC -3'
(R):5'- GCCAATCCAGGGATTTCATTG -3'
|
| Posted On |
2016-06-01 |
Incidental Mutation