Incidental Mutation 'IGL01526:Or10ag2'
| ID |
89573 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or10ag2
|
| Ensembl Gene |
ENSMUSG00000043274 |
| Gene Name |
olfactory receptor family 10 subfamily AG member 2 |
| Synonyms |
Olfr1123, MOR264-17, GA_x6K02T2Q125-48917235-48918206 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.244)
|
| Stock # |
IGL01526
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
87248394-87249365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87249319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 309
(D309V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054974]
[ENSMUST00000216208]
|
| AlphaFold |
A2AT85 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054974
AA Change: D309V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058786
Gene: ENSMUSG00000043274
AA Change: D309V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
44 |
321 |
4.4e-52 |
PFAM |
|
Pfam:7tm_1
|
54 |
303 |
2.6e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214663
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216208
AA Change: D307V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
G |
T |
4: 155,818,628 (GRCm39) |
|
probably benign |
Het |
| 4933430I17Rik |
G |
T |
4: 62,450,858 (GRCm39) |
R107L |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,348,997 (GRCm39) |
D388E |
probably benign |
Het |
| Art3 |
T |
C |
5: 92,562,199 (GRCm39) |
S354P |
probably damaging |
Het |
| Bpnt1 |
C |
A |
1: 185,077,591 (GRCm39) |
S102* |
probably null |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,950,237 (GRCm39) |
S1171T |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,005,478 (GRCm39) |
M613K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,838 (GRCm39) |
H47R |
possibly damaging |
Het |
| Gm14496 |
T |
A |
2: 181,637,458 (GRCm39) |
D177E |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,250,845 (GRCm39) |
V126A |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,054,916 (GRCm39) |
M105T |
probably damaging |
Het |
| Morc2a |
G |
A |
11: 3,600,428 (GRCm39) |
E17K |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,080,232 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
G |
T |
1: 162,883,172 (GRCm39) |
L436I |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,565,334 (GRCm39) |
D461G |
probably benign |
Het |
| Or2t45 |
A |
G |
11: 58,669,123 (GRCm39) |
T57A |
probably benign |
Het |
| Pcid2 |
G |
A |
8: 13,135,319 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3b |
G |
T |
8: 35,851,872 (GRCm39) |
R237L |
probably benign |
Het |
| Prdm11 |
A |
G |
2: 92,843,102 (GRCm39) |
V119A |
probably damaging |
Het |
| S100a7l2 |
T |
A |
3: 90,995,612 (GRCm39) |
|
probably benign |
Het |
| Serpina5 |
T |
A |
12: 104,068,149 (GRCm39) |
V70E |
probably damaging |
Het |
| Skap2 |
C |
T |
6: 51,884,894 (GRCm39) |
D249N |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,184,542 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
C |
A |
5: 31,685,571 (GRCm39) |
T283K |
possibly damaging |
Het |
| Slc6a21 |
T |
G |
7: 44,937,220 (GRCm39) |
I575S |
probably damaging |
Het |
| Smpd1 |
T |
G |
7: 105,203,982 (GRCm39) |
W82G |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,263,553 (GRCm39) |
M897L |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,972,406 (GRCm39) |
V586A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,682,910 (GRCm39) |
|
probably benign |
Het |
| Trim34a |
A |
G |
7: 103,909,706 (GRCm39) |
Y298C |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,872,960 (GRCm39) |
V1000A |
probably damaging |
Het |
|
| Other mutations in Or10ag2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Or10ag2
|
APN |
2 |
87,248,910 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01067:Or10ag2
|
APN |
2 |
87,248,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01580:Or10ag2
|
APN |
2 |
87,248,880 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01986:Or10ag2
|
APN |
2 |
87,248,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02503:Or10ag2
|
APN |
2 |
87,248,636 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02527:Or10ag2
|
APN |
2 |
87,249,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02731:Or10ag2
|
APN |
2 |
87,249,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03215:Or10ag2
|
APN |
2 |
87,248,412 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03366:Or10ag2
|
APN |
2 |
87,248,587 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0645:Or10ag2
|
UTSW |
2 |
87,248,612 (GRCm39) |
nonsense |
probably null |
|
|
R1857:Or10ag2
|
UTSW |
2 |
87,248,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2175:Or10ag2
|
UTSW |
2 |
87,248,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3691:Or10ag2
|
UTSW |
2 |
87,248,514 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4082:Or10ag2
|
UTSW |
2 |
87,248,801 (GRCm39) |
nonsense |
probably null |
|
|
R4635:Or10ag2
|
UTSW |
2 |
87,249,043 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4877:Or10ag2
|
UTSW |
2 |
87,248,907 (GRCm39) |
nonsense |
probably null |
|
|
R5190:Or10ag2
|
UTSW |
2 |
87,249,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5253:Or10ag2
|
UTSW |
2 |
87,249,012 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6266:Or10ag2
|
UTSW |
2 |
87,249,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6784:Or10ag2
|
UTSW |
2 |
87,248,796 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6909:Or10ag2
|
UTSW |
2 |
87,248,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7255:Or10ag2
|
UTSW |
2 |
87,249,286 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8076:Or10ag2
|
UTSW |
2 |
87,248,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8116:Or10ag2
|
UTSW |
2 |
87,249,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8315:Or10ag2
|
UTSW |
2 |
87,248,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8888:Or10ag2
|
UTSW |
2 |
87,248,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8895:Or10ag2
|
UTSW |
2 |
87,248,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation