Incidental Mutation 'IGL02319:Or8b47'
| ID |
288154 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8b47
|
| Ensembl Gene |
ENSMUSG00000062621 |
| Gene Name |
olfactory receptor family 8 subfamily B member 47 |
| Synonyms |
GA_x6K02T2PVTD-32247224-32248163, Olfr911, MOR165-1, GA_x6K02T2PVTD-32223906-32224841, Olfr909, MOR166-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL02319
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
38435026-38435965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38435166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 46
(I46N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074987]
[ENSMUST00000216496]
|
| AlphaFold |
A0A140T8K0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074987
AA Change: I46N
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074515
Gene: ENSMUSG00000062621
AA Change: I46N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.2e-46 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
9.8e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216496
AA Change: I46N
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
C |
10: 106,784,611 (GRCm39) |
Y537C |
probably damaging |
Het |
| Ambra1 |
A |
G |
2: 91,717,265 (GRCm39) |
H854R |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,570,116 (GRCm39) |
N981S |
probably benign |
Het |
| Atp6v1d |
A |
G |
12: 78,908,230 (GRCm39) |
S2P |
probably damaging |
Het |
| Cd59a |
A |
T |
2: 103,944,373 (GRCm39) |
I74F |
possibly damaging |
Het |
| Chek2 |
T |
C |
5: 111,014,877 (GRCm39) |
Y449H |
possibly damaging |
Het |
| Ctif |
C |
T |
18: 75,654,944 (GRCm39) |
|
probably benign |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,946 (GRCm39) |
E403G |
probably damaging |
Het |
| Dock1 |
T |
G |
7: 134,374,178 (GRCm39) |
V608G |
possibly damaging |
Het |
| Fcf1 |
T |
C |
12: 85,017,982 (GRCm39) |
|
probably null |
Het |
| Fgf17 |
T |
G |
14: 70,874,183 (GRCm39) |
Q202P |
possibly damaging |
Het |
| Hnrnpm |
A |
T |
17: 33,868,924 (GRCm39) |
L501Q |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Klra6 |
A |
T |
6: 130,002,177 (GRCm39) |
S2R |
probably damaging |
Het |
| Krtap19-9b |
T |
A |
16: 88,729,002 (GRCm39) |
Y33F |
unknown |
Het |
| Lpcat4 |
G |
A |
2: 112,074,229 (GRCm39) |
V264M |
probably damaging |
Het |
| Lyzl6 |
T |
C |
11: 103,525,862 (GRCm39) |
Y86C |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,939,005 (GRCm39) |
K1669E |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,893,159 (GRCm39) |
V1558A |
probably damaging |
Het |
| Or51a42 |
A |
G |
7: 103,708,140 (GRCm39) |
I223T |
probably damaging |
Het |
| Or51l14 |
G |
A |
7: 103,101,474 (GRCm39) |
C310Y |
probably benign |
Het |
| Or5b105 |
A |
G |
19: 13,080,026 (GRCm39) |
I214T |
probably benign |
Het |
| Pex11b |
T |
C |
3: 96,550,885 (GRCm39) |
|
probably benign |
Het |
| Rbm5 |
A |
T |
9: 107,621,064 (GRCm39) |
L689* |
probably null |
Het |
| Rd3 |
G |
T |
1: 191,715,452 (GRCm39) |
G76C |
probably null |
Het |
| Rgs16 |
A |
T |
1: 153,617,852 (GRCm39) |
I121F |
probably damaging |
Het |
| Tmem30a |
A |
T |
9: 79,681,485 (GRCm39) |
M264K |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,426,695 (GRCm39) |
E127G |
probably damaging |
Het |
| Trmt11 |
A |
T |
10: 30,436,869 (GRCm39) |
D290E |
probably damaging |
Het |
| Wdr35 |
C |
A |
12: 9,077,480 (GRCm39) |
|
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,214,914 (GRCm39) |
S1211P |
possibly damaging |
Het |
|
| Other mutations in Or8b47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Or8b47
|
APN |
9 |
38,435,029 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02415:Or8b47
|
APN |
9 |
38,435,408 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02536:Or8b47
|
APN |
9 |
38,435,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02702:Or8b47
|
APN |
9 |
38,435,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02926:Or8b47
|
APN |
9 |
38,435,021 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0499:Or8b47
|
UTSW |
9 |
38,435,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0662:Or8b47
|
UTSW |
9 |
38,435,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0799:Or8b47
|
UTSW |
9 |
38,435,437 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1186:Or8b47
|
UTSW |
9 |
38,435,453 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1681:Or8b47
|
UTSW |
9 |
38,435,413 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3522:Or8b47
|
UTSW |
9 |
38,435,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5820:Or8b47
|
UTSW |
9 |
38,435,895 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6597:Or8b47
|
UTSW |
9 |
38,435,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7721:Or8b47
|
UTSW |
9 |
38,435,013 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7846:Or8b47
|
UTSW |
9 |
38,435,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7985:Or8b47
|
UTSW |
9 |
38,435,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8339:Or8b47
|
UTSW |
9 |
38,435,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8460:Or8b47
|
UTSW |
9 |
38,427,926 (GRCm39) |
unclassified |
probably benign |
|
|
R9143:Or8b47
|
UTSW |
9 |
38,427,917 (GRCm39) |
unclassified |
probably benign |
|
|
R9287:Or8b47
|
UTSW |
9 |
38,435,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or8b47
|
UTSW |
9 |
38,435,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation