Incidental Mutation 'IGL03005:Or4a39'
| ID |
407502 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4a39
|
| Ensembl Gene |
ENSMUSG00000111517 |
| Gene Name |
olfactory receptor family 4subfamily A member 39 |
| Synonyms |
GA_x6K02T2Q125-50849945-50848998, Olfr1238, MOR231-11 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL03005
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
89236474-89237421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89237315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 36
(T36I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099781]
[ENSMUST00000217226]
[ENSMUST00000217237]
|
| AlphaFold |
Q8VG59 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099781
AA Change: T36I
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097369
Gene: ENSMUSG00000111517
AA Change: T36I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
7.7e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
300 |
1.1e-5 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
6.7e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215283
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217226
AA Change: T36I
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217237
AA Change: T36I
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt3 |
A |
T |
1: 176,894,793 (GRCm39) |
V268E |
probably damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,953,480 (GRCm39) |
Y468* |
probably null |
Het |
| Apob |
A |
G |
12: 8,043,059 (GRCm39) |
|
probably benign |
Het |
| Arhgap19 |
T |
C |
19: 41,772,856 (GRCm39) |
|
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,660,632 (GRCm39) |
L672P |
probably damaging |
Het |
| Cars1 |
A |
G |
7: 143,112,906 (GRCm39) |
F774L |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,773,973 (GRCm39) |
S128R |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,738,075 (GRCm39) |
N1569S |
probably damaging |
Het |
| Chmp7 |
G |
A |
14: 69,957,277 (GRCm39) |
R294C |
probably damaging |
Het |
| Col10a1 |
A |
T |
10: 34,271,734 (GRCm39) |
I569F |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,795,772 (GRCm39) |
V1169D |
probably damaging |
Het |
| Emg1 |
G |
A |
6: 124,681,557 (GRCm39) |
T229I |
probably damaging |
Het |
| Fmo9 |
C |
T |
1: 166,502,088 (GRCm39) |
S179N |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,912,371 (GRCm39) |
Y667C |
probably damaging |
Het |
| Gpsm2 |
A |
G |
3: 108,594,322 (GRCm39) |
|
probably benign |
Het |
| Gsdma |
A |
T |
11: 98,567,085 (GRCm39) |
E395V |
probably damaging |
Het |
| Gsdmd |
C |
T |
15: 75,739,015 (GRCm39) |
T464M |
possibly damaging |
Het |
| Iqschfp |
C |
A |
3: 68,526,010 (GRCm39) |
Q395K |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,763,136 (GRCm39) |
I36V |
possibly damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,139 (GRCm39) |
S199G |
probably damaging |
Het |
| Lypla1 |
C |
T |
1: 4,902,613 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
C |
T |
9: 107,791,748 (GRCm39) |
Q809* |
probably null |
Het |
| Mtr |
T |
A |
13: 12,250,335 (GRCm39) |
|
probably benign |
Het |
| Pax7 |
T |
A |
4: 139,556,007 (GRCm39) |
I156F |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,490,587 (GRCm39) |
L755Q |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,385,351 (GRCm39) |
P1140S |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,668,272 (GRCm39) |
L808P |
probably damaging |
Het |
| Pex1 |
G |
T |
5: 3,680,292 (GRCm39) |
Q971H |
probably null |
Het |
| Pgap6 |
C |
T |
17: 26,337,911 (GRCm39) |
L432F |
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,141,402 (GRCm39) |
V655E |
possibly damaging |
Het |
| Pnpla3 |
C |
T |
15: 84,058,469 (GRCm39) |
R163W |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,237,638 (GRCm39) |
L237P |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,902,340 (GRCm39) |
N442K |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,968,621 (GRCm39) |
D544A |
probably damaging |
Het |
| Spire2 |
C |
A |
8: 124,090,107 (GRCm39) |
P490T |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,767,150 (GRCm39) |
S554T |
probably benign |
Het |
|
| Other mutations in Or4a39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01326:Or4a39
|
APN |
2 |
89,236,675 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01648:Or4a39
|
APN |
2 |
89,236,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0450:Or4a39
|
UTSW |
2 |
89,237,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0469:Or4a39
|
UTSW |
2 |
89,237,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0510:Or4a39
|
UTSW |
2 |
89,237,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1983:Or4a39
|
UTSW |
2 |
89,236,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4183:Or4a39
|
UTSW |
2 |
89,236,935 (GRCm39) |
missense |
probably benign |
|
|
R4737:Or4a39
|
UTSW |
2 |
89,236,830 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4748:Or4a39
|
UTSW |
2 |
89,236,599 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4749:Or4a39
|
UTSW |
2 |
89,236,599 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4969:Or4a39
|
UTSW |
2 |
89,236,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5047:Or4a39
|
UTSW |
2 |
89,237,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5992:Or4a39
|
UTSW |
2 |
89,237,223 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6031:Or4a39
|
UTSW |
2 |
89,237,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Or4a39
|
UTSW |
2 |
89,237,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Or4a39
|
UTSW |
2 |
89,237,074 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6416:Or4a39
|
UTSW |
2 |
89,236,866 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7352:Or4a39
|
UTSW |
2 |
89,236,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7515:Or4a39
|
UTSW |
2 |
89,237,250 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7796:Or4a39
|
UTSW |
2 |
89,237,157 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7893:Or4a39
|
UTSW |
2 |
89,237,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8034:Or4a39
|
UTSW |
2 |
89,237,081 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8399:Or4a39
|
UTSW |
2 |
89,237,028 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8694:Or4a39
|
UTSW |
2 |
89,237,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Or4a39
|
UTSW |
2 |
89,236,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9486:Or4a39
|
UTSW |
2 |
89,236,959 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2016-08-02 |
Incidental Mutation