Incidental Mutation 'IGL02346:Or8g19'
| ID |
289262 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8g19
|
| Ensembl Gene |
ENSMUSG00000049708 |
| Gene Name |
olfactory receptor family 8 subfamily G member 19 |
| Synonyms |
MOR171-6, GA_x6K02T2PVTD-32841223-32842158, Olfr27, MTPCR56, Olfr242, GA_x6K02T2KYVW-1037-120 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL02346
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
39039463-39056368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39055939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 181
(L181P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000214052]
[ENSMUST00000216405]
|
| AlphaFold |
Q9EQ90 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057811
AA Change: L181P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110642
Gene: ENSMUSG00000049708
AA Change: L181P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.6e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.4e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214052
AA Change: L181P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216405
AA Change: L181P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,376,760 (GRCm39) |
I1948F |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,750,919 (GRCm39) |
V531A |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,601,271 (GRCm39) |
|
probably benign |
Het |
| Api5 |
A |
T |
2: 94,257,875 (GRCm39) |
F125I |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,884,762 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
T |
A |
16: 29,146,554 (GRCm39) |
K247* |
probably null |
Het |
| Col9a1 |
C |
T |
1: 24,262,690 (GRCm39) |
A585V |
probably damaging |
Het |
| Eef1akmt3 |
A |
G |
10: 126,868,805 (GRCm39) |
V223A |
probably benign |
Het |
| Eml1 |
T |
C |
12: 108,503,700 (GRCm39) |
S766P |
possibly damaging |
Het |
| Fam13b |
G |
T |
18: 34,595,158 (GRCm39) |
A402E |
probably benign |
Het |
| Gad2 |
A |
G |
2: 22,519,951 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,274,369 (GRCm39) |
E1859G |
probably damaging |
Het |
| Gli3 |
T |
G |
13: 15,898,278 (GRCm39) |
V786G |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,938,889 (GRCm39) |
S724G |
probably damaging |
Het |
| Hgs |
A |
G |
11: 120,373,377 (GRCm39) |
Y634C |
probably damaging |
Het |
| Hoxa3 |
T |
A |
6: 52,147,579 (GRCm39) |
|
probably benign |
Het |
| Id4 |
C |
A |
13: 48,415,189 (GRCm39) |
Y72* |
probably null |
Het |
| Il5ra |
T |
A |
6: 106,719,619 (GRCm39) |
E71D |
probably benign |
Het |
| Kcnh4 |
G |
A |
11: 100,647,768 (GRCm39) |
T168M |
possibly damaging |
Het |
| Kdm3b |
A |
T |
18: 34,967,291 (GRCm39) |
I1699L |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,992,836 (GRCm39) |
Y1048H |
probably damaging |
Het |
| Mix23 |
T |
C |
16: 35,912,205 (GRCm39) |
V87A |
probably damaging |
Het |
| Nr2f1 |
C |
A |
13: 78,343,527 (GRCm39) |
V246L |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,874,153 (GRCm39) |
I560N |
probably benign |
Het |
| Or1j17 |
A |
T |
2: 36,578,016 (GRCm39) |
M1L |
probably benign |
Het |
| Or1m1 |
T |
C |
9: 18,666,065 (GRCm39) |
I289V |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,552 (GRCm39) |
|
probably benign |
Het |
| Pdss2 |
T |
C |
10: 43,221,639 (GRCm39) |
F184L |
possibly damaging |
Het |
| Prpf39 |
C |
T |
12: 65,104,510 (GRCm39) |
T525I |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,047,782 (GRCm39) |
|
probably null |
Het |
| Rasal3 |
A |
G |
17: 32,618,323 (GRCm39) |
W161R |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,470,125 (GRCm39) |
V329D |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,670,514 (GRCm39) |
M1L |
probably benign |
Het |
| Sptb |
C |
T |
12: 76,667,788 (GRCm39) |
D770N |
probably damaging |
Het |
| Tdp2 |
T |
C |
13: 25,025,335 (GRCm39) |
V368A |
possibly damaging |
Het |
| Uggt1 |
A |
G |
1: 36,218,751 (GRCm39) |
S59P |
probably benign |
Het |
| Vmn2r130 |
T |
C |
17: 23,280,501 (GRCm39) |
V54A |
possibly damaging |
Het |
| Vmn2r9 |
T |
A |
5: 108,990,850 (GRCm39) |
N837I |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,998,407 (GRCm39) |
E1118V |
probably benign |
Het |
| Wwox |
A |
G |
8: 115,438,858 (GRCm39) |
H308R |
probably benign |
Het |
| Zbtb41 |
C |
A |
1: 139,374,838 (GRCm39) |
P766Q |
probably damaging |
Het |
|
| Other mutations in Or8g19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Or8g19
|
APN |
9 |
39,056,053 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00905:Or8g19
|
APN |
9 |
39,056,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:Or8g19
|
UTSW |
9 |
39,056,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Or8g19
|
UTSW |
9 |
39,055,399 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
R0590:Or8g19
|
UTSW |
9 |
39,056,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2915:Or8g19
|
UTSW |
9 |
39,055,762 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4299:Or8g19
|
UTSW |
9 |
39,056,295 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4367:Or8g19
|
UTSW |
9 |
39,055,725 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4663:Or8g19
|
UTSW |
9 |
39,056,145 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5276:Or8g19
|
UTSW |
9 |
39,055,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Or8g19
|
UTSW |
9 |
39,055,780 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5742:Or8g19
|
UTSW |
9 |
39,055,974 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5986:Or8g19
|
UTSW |
9 |
39,056,278 (GRCm39) |
missense |
probably null |
1.00 |
|
R6801:Or8g19
|
UTSW |
9 |
39,055,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7247:Or8g19
|
UTSW |
9 |
39,056,153 (GRCm39) |
nonsense |
probably null |
|
|
R7520:Or8g19
|
UTSW |
9 |
39,055,414 (GRCm39) |
missense |
probably benign |
|
|
R7787:Or8g19
|
UTSW |
9 |
39,055,548 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8360:Or8g19
|
UTSW |
9 |
39,055,761 (GRCm39) |
nonsense |
probably null |
|
|
R8721:Or8g19
|
UTSW |
9 |
39,055,386 (GRCm39) |
start gained |
probably benign |
|
|
R8880:Or8g19
|
UTSW |
9 |
39,055,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8883:Or8g19
|
UTSW |
9 |
39,056,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9143:Or8g19
|
UTSW |
9 |
39,055,722 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9445:Or8g19
|
UTSW |
9 |
39,055,766 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation