Incidental Mutation 'IGL02465:Or9a2'
| ID |
294550 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or9a2
|
| Ensembl Gene |
ENSMUSG00000045479 |
| Gene Name |
olfactory receptor family 9 subfamily A member 2 |
| Synonyms |
GA_x6K02T2P3E9-5780974-5781915, Olfr459, MOR120-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
IGL02465
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
41748287-41749231 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41748490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 248
(V248I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050412]
[ENSMUST00000214752]
[ENSMUST00000214976]
|
| AlphaFold |
Q924H8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050412
AA Change: V248I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061622
Gene: ENSMUSG00000045479
AA Change: V248I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
7.9e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
304 |
1.7e-6 |
PFAM |
|
Pfam:7tm_1
|
40 |
290 |
6.2e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203430
AA Change: V248I
|
| SMART Domains |
Protein: ENSMUSP00000145036
Gene: ENSMUSG00000045479
AA Change: V248I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
7.9e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
304 |
1.7e-6 |
PFAM |
|
Pfam:7tm_1
|
40 |
290 |
6.2e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214752
AA Change: V248I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214976
AA Change: V248I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy3 |
A |
G |
12: 4,250,906 (GRCm39) |
D555G |
probably benign |
Het |
| Anks1b |
T |
A |
10: 89,999,127 (GRCm39) |
C411* |
probably null |
Het |
| Atp5pf |
A |
T |
16: 84,625,358 (GRCm39) |
Y82N |
probably damaging |
Het |
| Cd19 |
A |
T |
7: 126,012,730 (GRCm39) |
V221D |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,148,110 (GRCm39) |
|
probably null |
Het |
| Ddrgk1 |
T |
C |
2: 130,496,629 (GRCm39) |
D245G |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,557,872 (GRCm39) |
D156G |
possibly damaging |
Het |
| Gm42763 |
T |
C |
9: 110,374,365 (GRCm39) |
|
probably benign |
Het |
| Gtdc1 |
T |
C |
2: 44,460,435 (GRCm39) |
Y417C |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,569,914 (GRCm39) |
T936A |
unknown |
Het |
| Med23 |
G |
A |
10: 24,779,641 (GRCm39) |
R906K |
probably damaging |
Het |
| Mill2 |
G |
A |
7: 18,592,168 (GRCm39) |
W263* |
probably null |
Het |
| Mup20 |
T |
C |
4: 61,970,237 (GRCm39) |
N107D |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,083,177 (GRCm39) |
|
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,208,194 (GRCm39) |
N680S |
probably damaging |
Het |
| Or12d2 |
A |
C |
17: 37,624,802 (GRCm39) |
S158A |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,195,401 (GRCm39) |
H29R |
possibly damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,477,113 (GRCm39) |
I878T |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,932,703 (GRCm39) |
*1926R |
probably null |
Het |
| Prl8a9 |
T |
A |
13: 27,743,432 (GRCm39) |
L124F |
probably damaging |
Het |
| Proser3 |
A |
T |
7: 30,242,958 (GRCm39) |
N206K |
possibly damaging |
Het |
| Rasef |
G |
T |
4: 73,652,725 (GRCm39) |
T439N |
probably damaging |
Het |
| Slc6a18 |
T |
C |
13: 73,825,904 (GRCm39) |
T49A |
probably benign |
Het |
| Spag17 |
A |
C |
3: 99,983,187 (GRCm39) |
T1496P |
probably damaging |
Het |
| Vmn1r63 |
A |
C |
7: 5,806,038 (GRCm39) |
V198G |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,833,975 (GRCm39) |
S548P |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,688,305 (GRCm39) |
D834G |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,340,653 (GRCm39) |
N799I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,663 (GRCm39) |
H1632R |
possibly damaging |
Het |
| Zp1 |
T |
A |
19: 10,897,851 (GRCm39) |
E30V |
probably benign |
Het |
|
| Other mutations in Or9a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00896:Or9a2
|
APN |
6 |
41,749,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01460:Or9a2
|
APN |
6 |
41,749,216 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0352:Or9a2
|
UTSW |
6 |
41,749,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0443:Or9a2
|
UTSW |
6 |
41,748,829 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0480:Or9a2
|
UTSW |
6 |
41,749,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1491:Or9a2
|
UTSW |
6 |
41,748,456 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1495:Or9a2
|
UTSW |
6 |
41,748,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Or9a2
|
UTSW |
6 |
41,748,939 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3688:Or9a2
|
UTSW |
6 |
41,749,160 (GRCm39) |
nonsense |
probably null |
|
|
R3910:Or9a2
|
UTSW |
6 |
41,749,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4709:Or9a2
|
UTSW |
6 |
41,748,442 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4710:Or9a2
|
UTSW |
6 |
41,748,442 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4960:Or9a2
|
UTSW |
6 |
41,749,003 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5162:Or9a2
|
UTSW |
6 |
41,748,706 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5236:Or9a2
|
UTSW |
6 |
41,749,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5441:Or9a2
|
UTSW |
6 |
41,748,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7171:Or9a2
|
UTSW |
6 |
41,748,961 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7400:Or9a2
|
UTSW |
6 |
41,748,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Or9a2
|
UTSW |
6 |
41,748,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8346:Or9a2
|
UTSW |
6 |
41,749,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8363:Or9a2
|
UTSW |
6 |
41,748,684 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9573:Or9a2
|
UTSW |
6 |
41,748,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9700:Or9a2
|
UTSW |
6 |
41,749,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation