Incidental Mutation 'IGL02435:Or4a72'
ID |
293240 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or4a72
|
Ensembl Gene |
ENSMUSG00000111456 |
Gene Name |
olfactory receptor family 4 subfamily A member 72 |
Synonyms |
GA_x6K02T2Q125-51020951-51020028, MOR231-12, Olfr1245 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
IGL02435
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
89405056-89406117 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89405890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 60
(F60S)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000214870]
[ENSMUST00000217402]
|
AlphaFold |
A0A1L1SQJ6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099766
AA Change: F60S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000097354 Gene: ENSMUSG00000100601 AA Change: F60S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
303 |
6e-49 |
PFAM |
Pfam:7tm_1
|
39 |
285 |
2.8e-17 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214870
AA Change: F60S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217402
AA Change: F60S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amph |
A |
G |
13: 19,323,333 (GRCm39) |
|
probably benign |
Het |
Ankrd12 |
G |
T |
17: 66,294,151 (GRCm39) |
S427R |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,416,482 (GRCm39) |
T420A |
probably benign |
Het |
Braf |
C |
T |
6: 39,623,700 (GRCm39) |
S414N |
probably benign |
Het |
C1rl |
T |
C |
6: 124,485,832 (GRCm39) |
L401P |
probably damaging |
Het |
Ecpas |
A |
G |
4: 58,830,325 (GRCm39) |
|
probably benign |
Het |
Elmo1 |
A |
T |
13: 20,773,826 (GRCm39) |
D612V |
probably damaging |
Het |
Fbxo15 |
T |
C |
18: 84,977,351 (GRCm39) |
S88P |
probably damaging |
Het |
Glrx3 |
A |
G |
7: 137,063,125 (GRCm39) |
N132S |
possibly damaging |
Het |
Hamp |
G |
T |
7: 30,643,324 (GRCm39) |
Q29K |
probably benign |
Het |
Igfbp2 |
G |
A |
1: 72,891,245 (GRCm39) |
R281Q |
probably damaging |
Het |
Itih3 |
C |
T |
14: 30,637,711 (GRCm39) |
A483T |
probably damaging |
Het |
Mrc1 |
C |
T |
2: 14,253,671 (GRCm39) |
Q231* |
probably null |
Het |
Nif3l1 |
A |
G |
1: 58,487,020 (GRCm39) |
T69A |
possibly damaging |
Het |
Ntrk1 |
A |
G |
3: 87,696,039 (GRCm39) |
F157S |
probably benign |
Het |
Or2ag1b |
A |
G |
7: 106,288,710 (GRCm39) |
V76A |
probably benign |
Het |
Or5b97 |
A |
T |
19: 12,878,391 (GRCm39) |
I251N |
probably damaging |
Het |
Pck2 |
T |
C |
14: 55,781,847 (GRCm39) |
|
probably benign |
Het |
Pdgfrb |
T |
C |
18: 61,197,998 (GRCm39) |
|
probably null |
Het |
Ric8b |
A |
G |
10: 84,815,940 (GRCm39) |
N194S |
probably benign |
Het |
Rlbp1 |
A |
G |
7: 79,031,414 (GRCm39) |
F105L |
probably damaging |
Het |
Sde2 |
G |
T |
1: 180,693,717 (GRCm39) |
K402N |
probably damaging |
Het |
Slc13a3 |
T |
C |
2: 165,250,860 (GRCm39) |
H461R |
possibly damaging |
Het |
Spag17 |
A |
T |
3: 99,889,760 (GRCm39) |
I210F |
possibly damaging |
Het |
Szt2 |
G |
A |
4: 118,248,020 (GRCm39) |
R735W |
probably damaging |
Het |
Tspan6 |
T |
C |
X: 132,793,493 (GRCm39) |
Y186C |
probably benign |
Het |
Ugt8a |
A |
G |
3: 125,660,969 (GRCm39) |
S508P |
probably benign |
Het |
Zfp217 |
T |
C |
2: 169,961,373 (GRCm39) |
D318G |
possibly damaging |
Het |
|
Other mutations in Or4a72 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01122:Or4a72
|
APN |
2 |
89,405,767 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01690:Or4a72
|
APN |
2 |
89,405,557 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02334:Or4a72
|
APN |
2 |
89,405,668 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02793:Or4a72
|
APN |
2 |
89,405,896 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02875:Or4a72
|
APN |
2 |
89,405,896 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03218:Or4a72
|
APN |
2 |
89,405,935 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03392:Or4a72
|
APN |
2 |
89,405,593 (GRCm39) |
missense |
probably damaging |
0.96 |
H8786:Or4a72
|
UTSW |
2 |
89,405,623 (GRCm39) |
missense |
probably damaging |
1.00 |
I0000:Or4a72
|
UTSW |
2 |
89,405,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R0044:Or4a72
|
UTSW |
2 |
89,405,974 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0190:Or4a72
|
UTSW |
2 |
89,405,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R1585:Or4a72
|
UTSW |
2 |
89,405,746 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1902:Or4a72
|
UTSW |
2 |
89,405,947 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2018:Or4a72
|
UTSW |
2 |
89,405,737 (GRCm39) |
missense |
probably damaging |
0.97 |
R2019:Or4a72
|
UTSW |
2 |
89,405,737 (GRCm39) |
missense |
probably damaging |
0.97 |
R2020:Or4a72
|
UTSW |
2 |
89,405,305 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2021:Or4a72
|
UTSW |
2 |
89,405,305 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2030:Or4a72
|
UTSW |
2 |
89,405,558 (GRCm39) |
missense |
probably benign |
0.00 |
R2133:Or4a72
|
UTSW |
2 |
89,405,600 (GRCm39) |
nonsense |
probably null |
|
R3850:Or4a72
|
UTSW |
2 |
89,405,378 (GRCm39) |
missense |
probably damaging |
0.99 |
R4066:Or4a72
|
UTSW |
2 |
89,405,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R4754:Or4a72
|
UTSW |
2 |
89,405,391 (GRCm39) |
missense |
probably benign |
|
R4923:Or4a72
|
UTSW |
2 |
89,406,023 (GRCm39) |
missense |
probably damaging |
0.98 |
R5303:Or4a72
|
UTSW |
2 |
89,405,345 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5574:Or4a72
|
UTSW |
2 |
89,405,321 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6083:Or4a72
|
UTSW |
2 |
89,406,016 (GRCm39) |
missense |
probably benign |
0.42 |
R6188:Or4a72
|
UTSW |
2 |
89,405,538 (GRCm39) |
nonsense |
probably null |
|
R6724:Or4a72
|
UTSW |
2 |
89,405,309 (GRCm39) |
missense |
probably benign |
0.26 |
R6964:Or4a72
|
UTSW |
2 |
89,405,333 (GRCm39) |
missense |
probably benign |
|
R7066:Or4a72
|
UTSW |
2 |
89,406,047 (GRCm39) |
missense |
probably damaging |
0.98 |
R7401:Or4a72
|
UTSW |
2 |
89,405,449 (GRCm39) |
missense |
probably benign |
0.27 |
R8232:Or4a72
|
UTSW |
2 |
89,405,938 (GRCm39) |
missense |
noncoding transcript |
|
R8558:Or4a72
|
UTSW |
2 |
89,405,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R8708:Or4a72
|
UTSW |
2 |
89,405,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R9482:Or4a72
|
UTSW |
2 |
89,405,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |