Incidental Mutation 'IGL02311:Or2ag2'
| ID |
287813 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2ag2
|
| Ensembl Gene |
ENSMUSG00000109354 |
| Gene Name |
olfactory receptor family 2 subfamily AG member 2 |
| Synonyms |
MOR283-11, GA_x6K02T2PBJ9-9271198-9270248, Olfr706 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.304)
|
| Stock # |
IGL02311
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
106485072-106486022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106485101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 308
(Y308H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000209025]
[ENSMUST00000210644]
[ENSMUST00000213251]
[ENSMUST00000213918]
[ENSMUST00000214112]
|
| AlphaFold |
Q9EPF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209025
AA Change: Y308H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210644
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213251
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213918
AA Change: Y308H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214112
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216099
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
C |
A |
5: 25,202,705 (GRCm39) |
|
probably benign |
Het |
| Adam21 |
T |
G |
12: 81,607,666 (GRCm39) |
D32A |
probably benign |
Het |
| Asns |
A |
G |
6: 7,676,233 (GRCm39) |
|
probably null |
Het |
| Bin3 |
A |
T |
14: 70,361,666 (GRCm39) |
M45L |
probably benign |
Het |
| Cfap44 |
A |
T |
16: 44,225,134 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,227,163 (GRCm39) |
T2642A |
probably benign |
Het |
| Dbndd2 |
T |
C |
2: 164,330,622 (GRCm39) |
S92P |
possibly damaging |
Het |
| Dclre1b |
A |
C |
3: 103,715,409 (GRCm39) |
F30V |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,755,624 (GRCm39) |
D200G |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,076,456 (GRCm39) |
R335L |
probably damaging |
Het |
| Fscn1 |
T |
C |
5: 142,957,765 (GRCm39) |
V304A |
probably benign |
Het |
| Gm7008 |
G |
A |
12: 40,273,385 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
G |
14: 5,864,425 (GRCm38) |
|
probably null |
Het |
| Ifih1 |
T |
C |
2: 62,440,847 (GRCm39) |
T440A |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,485,571 (GRCm39) |
S237F |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,001,743 (GRCm39) |
I174V |
probably benign |
Het |
| Or8c11 |
C |
T |
9: 38,289,194 (GRCm39) |
Q6* |
probably null |
Het |
| Orc1 |
G |
T |
4: 108,457,171 (GRCm39) |
V404L |
probably benign |
Het |
| Pcsk5 |
G |
T |
19: 17,410,784 (GRCm39) |
Y1869* |
probably null |
Het |
| Phf21b |
A |
G |
15: 84,678,095 (GRCm39) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,484,246 (GRCm39) |
T631A |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,930,190 (GRCm39) |
N349D |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,316,637 (GRCm39) |
S976G |
probably benign |
Het |
| Scn8a |
G |
T |
15: 100,911,164 (GRCm39) |
M861I |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,792,239 (GRCm39) |
N433S |
probably damaging |
Het |
| Synrg |
A |
G |
11: 83,910,630 (GRCm39) |
K854R |
probably benign |
Het |
| Tbata |
T |
A |
10: 61,015,234 (GRCm39) |
C150* |
probably null |
Het |
| Tcn2 |
G |
A |
11: 3,867,692 (GRCm39) |
P417S |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Tpr |
G |
T |
1: 150,274,404 (GRCm39) |
D104Y |
probably damaging |
Het |
| Ubash3b |
T |
C |
9: 40,958,333 (GRCm39) |
T16A |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,335,635 (GRCm39) |
S548T |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,709,660 (GRCm39) |
V1869E |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,120,732 (GRCm39) |
C64R |
probably benign |
Het |
| Zic2 |
C |
A |
14: 122,713,606 (GRCm39) |
N173K |
probably damaging |
Het |
|
| Other mutations in Or2ag2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03093:Or2ag2
|
APN |
7 |
106,485,410 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03354:Or2ag2
|
APN |
7 |
106,485,307 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0334:Or2ag2
|
UTSW |
7 |
106,485,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1577:Or2ag2
|
UTSW |
7 |
106,485,217 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4083:Or2ag2
|
UTSW |
7 |
106,485,851 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4399:Or2ag2
|
UTSW |
7 |
106,485,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4421:Or2ag2
|
UTSW |
7 |
106,485,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5202:Or2ag2
|
UTSW |
7 |
106,485,803 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6031:Or2ag2
|
UTSW |
7 |
106,485,134 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6031:Or2ag2
|
UTSW |
7 |
106,485,134 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6375:Or2ag2
|
UTSW |
7 |
106,485,221 (GRCm39) |
missense |
probably benign |
|
|
R6475:Or2ag2
|
UTSW |
7 |
106,485,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7665:Or2ag2
|
UTSW |
7 |
106,485,880 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7742:Or2ag2
|
UTSW |
7 |
106,485,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7956:Or2ag2
|
UTSW |
7 |
106,485,178 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8678:Or2ag2
|
UTSW |
7 |
106,485,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or2ag2
|
UTSW |
7 |
106,485,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation