Incidental Mutation 'IGL03186:Or4a2'
| ID |
412463 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4a2
|
| Ensembl Gene |
ENSMUSG00000075088 |
| Gene Name |
olfactory receptor family 4 subfamily A member 2 |
| Synonyms |
GA_x6K02T2Q125-50861284-50860367, Olfr1239, MOR231-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL03186
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
89247838-89248755 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89248188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 190
(T190S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099780]
[ENSMUST00000216762]
[ENSMUST00000217181]
|
| AlphaFold |
Q8VGM8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099780
AA Change: T190S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097368
Gene: ENSMUSG00000075088
AA Change: T190S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
1.5e-46 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
3.7e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216762
AA Change: T190S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217181
AA Change: T190S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,581,737 (GRCm39) |
I4769T |
possibly damaging |
Het |
| Ankrd53 |
T |
C |
6: 83,740,695 (GRCm39) |
I106T |
probably benign |
Het |
| Arsi |
A |
G |
18: 61,050,545 (GRCm39) |
D476G |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,290,329 (GRCm39) |
K760E |
probably benign |
Het |
| C030048H21Rik |
A |
G |
2: 26,143,350 (GRCm39) |
|
probably null |
Het |
| Cep152 |
A |
G |
2: 125,405,895 (GRCm39) |
S1546P |
probably benign |
Het |
| Cimap1c |
T |
G |
9: 56,756,356 (GRCm39) |
N220T |
probably benign |
Het |
| Clock |
T |
C |
5: 76,390,929 (GRCm39) |
H291R |
probably damaging |
Het |
| Fkbp4 |
T |
C |
6: 128,411,763 (GRCm39) |
T109A |
probably benign |
Het |
| Igkv1-117 |
T |
C |
6: 68,098,783 (GRCm39) |
Y111H |
probably damaging |
Het |
| Kif20b |
A |
T |
19: 34,912,344 (GRCm39) |
E250V |
probably benign |
Het |
| Mef2c |
A |
G |
13: 83,800,987 (GRCm39) |
N229S |
probably benign |
Het |
| Ndufa9 |
A |
G |
6: 126,821,855 (GRCm39) |
V36A |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,100,671 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Neurl1a |
T |
A |
19: 47,228,916 (GRCm39) |
F152Y |
probably damaging |
Het |
| Nlrp14 |
G |
T |
7: 106,785,877 (GRCm39) |
C651F |
probably damaging |
Het |
| Or5ac20 |
A |
T |
16: 59,104,266 (GRCm39) |
V198E |
probably damaging |
Het |
| Or7g21 |
T |
A |
9: 19,033,200 (GRCm39) |
D316E |
probably benign |
Het |
| Pex2 |
C |
A |
3: 5,626,777 (GRCm39) |
A11S |
probably benign |
Het |
| Pitpna |
C |
A |
11: 75,503,076 (GRCm39) |
H137N |
probably benign |
Het |
| Pole |
T |
G |
5: 110,447,786 (GRCm39) |
|
probably null |
Het |
| Rft1 |
T |
A |
14: 30,380,306 (GRCm39) |
I35N |
possibly damaging |
Het |
| Serpina1e |
T |
C |
12: 103,915,462 (GRCm39) |
H248R |
probably benign |
Het |
| Sgsm1 |
C |
T |
5: 113,432,887 (GRCm39) |
A254T |
probably benign |
Het |
| St3gal3 |
G |
A |
4: 117,797,251 (GRCm39) |
P331S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,602,106 (GRCm39) |
K16773* |
probably null |
Het |
| Zfp687 |
T |
C |
3: 94,918,405 (GRCm39) |
T456A |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,551,932 (GRCm39) |
I220M |
possibly damaging |
Het |
|
| Other mutations in Or4a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4810001:Or4a2
|
UTSW |
2 |
89,248,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0271:Or4a2
|
UTSW |
2 |
89,248,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0521:Or4a2
|
UTSW |
2 |
89,248,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0667:Or4a2
|
UTSW |
2 |
89,248,032 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1738:Or4a2
|
UTSW |
2 |
89,248,362 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1955:Or4a2
|
UTSW |
2 |
89,248,755 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R3114:Or4a2
|
UTSW |
2 |
89,248,757 (GRCm39) |
splice site |
probably null |
|
|
R4110:Or4a2
|
UTSW |
2 |
89,248,444 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4111:Or4a2
|
UTSW |
2 |
89,248,444 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4796:Or4a2
|
UTSW |
2 |
89,248,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4951:Or4a2
|
UTSW |
2 |
89,248,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5751:Or4a2
|
UTSW |
2 |
89,248,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Or4a2
|
UTSW |
2 |
89,248,695 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7249:Or4a2
|
UTSW |
2 |
89,248,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:Or4a2
|
UTSW |
2 |
89,248,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7476:Or4a2
|
UTSW |
2 |
89,247,843 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7493:Or4a2
|
UTSW |
2 |
89,248,145 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7589:Or4a2
|
UTSW |
2 |
89,248,724 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9091:Or4a2
|
UTSW |
2 |
89,248,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9270:Or4a2
|
UTSW |
2 |
89,248,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Or4a2
|
UTSW |
2 |
89,248,662 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Posted On |
2016-08-02 |
Incidental Mutation