Incidental Mutation 'IGL02088:Or5h18'
| ID |
279310 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5h18
|
| Ensembl Gene |
ENSMUSG00000047960 |
| Gene Name |
olfactory receptor family 5 subfamily H member 18 |
| Synonyms |
Olfr186, GA_x54KRFPKG5P-55257214-55256285, MOR183-9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL02088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
58847286-58848290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58847415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 285
(L285P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062380]
[ENSMUST00000206463]
[ENSMUST00000216415]
|
| AlphaFold |
Q8VEX5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062380
AA Change: L285P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056448
Gene: ENSMUSG00000047960
AA Change: L285P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
9.4e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
7e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205894
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206463
AA Change: L285P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216415
AA Change: L285P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
T |
C |
9: 103,976,080 (GRCm39) |
E289G |
probably damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,557,572 (GRCm39) |
|
probably benign |
Het |
| Ampd3 |
T |
A |
7: 110,392,893 (GRCm39) |
D220E |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,835,203 (GRCm39) |
V136A |
probably damaging |
Het |
| Atg14 |
T |
C |
14: 47,780,316 (GRCm39) |
K486R |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,407,669 (GRCm39) |
I637V |
probably benign |
Het |
| Axin2 |
T |
A |
11: 108,814,442 (GRCm39) |
F110Y |
probably damaging |
Het |
| Cdh12 |
A |
T |
15: 21,480,425 (GRCm39) |
K214* |
probably null |
Het |
| Cfap44 |
A |
C |
16: 44,271,991 (GRCm39) |
E1248A |
possibly damaging |
Het |
| Cryba4 |
A |
G |
5: 112,398,875 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,691,965 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,459,264 (GRCm39) |
|
probably null |
Het |
| Dok3 |
A |
T |
13: 55,672,183 (GRCm39) |
V165E |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,811,359 (GRCm39) |
R1147S |
probably damaging |
Het |
| Fbxl6 |
G |
T |
15: 76,420,106 (GRCm39) |
C502* |
probably null |
Het |
| Gp2 |
A |
T |
7: 119,053,692 (GRCm39) |
Y90N |
probably damaging |
Het |
| H1f7 |
G |
T |
15: 98,155,059 (GRCm39) |
T30K |
probably damaging |
Het |
| Inka1 |
A |
G |
9: 107,861,656 (GRCm39) |
F220S |
probably damaging |
Het |
| Itfg2 |
A |
G |
6: 128,388,569 (GRCm39) |
V306A |
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,374,424 (GRCm39) |
Y219C |
probably damaging |
Het |
| Mccc1 |
A |
T |
3: 36,028,351 (GRCm39) |
I485N |
probably damaging |
Het |
| Mettl25 |
A |
G |
10: 105,659,111 (GRCm39) |
F391L |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,775,362 (GRCm39) |
|
noncoding transcript |
Het |
| Muc2 |
T |
C |
7: 141,305,241 (GRCm39) |
C182R |
probably damaging |
Het |
| Nlrp4g |
T |
C |
9: 124,350,453 (GRCm38) |
|
noncoding transcript |
Het |
| Nms |
A |
G |
1: 38,978,358 (GRCm39) |
|
probably benign |
Het |
| Nr3c1 |
T |
C |
18: 39,557,444 (GRCm39) |
N503S |
probably damaging |
Het |
| Or10q12 |
T |
C |
19: 13,746,030 (GRCm39) |
F108S |
probably damaging |
Het |
| Or7g16 |
C |
T |
9: 18,727,219 (GRCm39) |
V124I |
probably benign |
Het |
| Pcdhb5 |
G |
A |
18: 37,455,012 (GRCm39) |
S464N |
probably benign |
Het |
| Pcgf6 |
T |
C |
19: 47,039,243 (GRCm39) |
T6A |
unknown |
Het |
| Rdx |
A |
G |
9: 51,972,183 (GRCm39) |
|
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,680,479 (GRCm39) |
T403A |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,068,522 (GRCm39) |
F148L |
probably benign |
Het |
| Tk1 |
A |
G |
11: 117,715,491 (GRCm39) |
|
probably benign |
Het |
| Tnks |
T |
A |
8: 35,307,148 (GRCm39) |
I1134F |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,557,035 (GRCm39) |
V29990A |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,369,415 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or5h18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00951:Or5h18
|
APN |
16 |
58,848,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00969:Or5h18
|
APN |
16 |
58,847,994 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01102:Or5h18
|
APN |
16 |
58,848,192 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01348:Or5h18
|
APN |
16 |
58,848,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01399:Or5h18
|
APN |
16 |
58,847,629 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0047:Or5h18
|
UTSW |
16 |
58,847,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0479:Or5h18
|
UTSW |
16 |
58,847,491 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0866:Or5h18
|
UTSW |
16 |
58,847,791 (GRCm39) |
missense |
probably benign |
|
|
R0926:Or5h18
|
UTSW |
16 |
58,848,051 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1760:Or5h18
|
UTSW |
16 |
58,847,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1955:Or5h18
|
UTSW |
16 |
58,847,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2085:Or5h18
|
UTSW |
16 |
58,848,232 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2118:Or5h18
|
UTSW |
16 |
58,848,178 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4156:Or5h18
|
UTSW |
16 |
58,847,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4287:Or5h18
|
UTSW |
16 |
58,847,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4783:Or5h18
|
UTSW |
16 |
58,848,260 (GRCm39) |
missense |
probably benign |
|
|
R4885:Or5h18
|
UTSW |
16 |
58,847,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Or5h18
|
UTSW |
16 |
58,847,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4965:Or5h18
|
UTSW |
16 |
58,847,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Or5h18
|
UTSW |
16 |
58,847,820 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7624:Or5h18
|
UTSW |
16 |
58,847,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7683:Or5h18
|
UTSW |
16 |
58,847,469 (GRCm39) |
missense |
probably benign |
|
|
R8197:Or5h18
|
UTSW |
16 |
58,847,448 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9048:Or5h18
|
UTSW |
16 |
58,847,598 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9117:Or5h18
|
UTSW |
16 |
58,847,653 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9309:Or5h18
|
UTSW |
16 |
58,848,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9444:Or5h18
|
UTSW |
16 |
58,848,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation