Incidental Mutation 'IGL02205:Or5p50'
ID |
284423 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or5p50
|
Ensembl Gene |
ENSMUSG00000095910 |
Gene Name |
olfactory receptor family 5 subfamily P member 50 |
Synonyms |
MOR204-21, GA_x6K02T2PBJ9-10152980-10152036, Olfr469 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
IGL02205
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
107421730-107422674 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107421798 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 293
(Y293H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150486
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075704]
[ENSMUST00000213252]
|
AlphaFold |
Q8VF66 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075704
AA Change: Y293H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075122 Gene: ENSMUSG00000095910 AA Change: Y293H
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
34 |
311 |
1.3e-53 |
PFAM |
Pfam:7tm_1
|
44 |
293 |
2.4e-22 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213252
AA Change: Y293H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216431
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afmid |
T |
G |
11: 117,725,982 (GRCm39) |
L150R |
probably damaging |
Het |
Ankrd27 |
T |
G |
7: 35,316,364 (GRCm39) |
D543E |
probably damaging |
Het |
Anks1b |
T |
G |
10: 89,906,956 (GRCm39) |
L258V |
probably benign |
Het |
Cacna1i |
T |
C |
15: 80,257,152 (GRCm39) |
F1087S |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
Cmip |
G |
A |
8: 118,181,714 (GRCm39) |
V674I |
probably damaging |
Het |
Col4a2 |
C |
T |
8: 11,481,305 (GRCm39) |
Q826* |
probably null |
Het |
Ctdsp1 |
C |
T |
1: 74,432,993 (GRCm39) |
A92V |
possibly damaging |
Het |
Dnajc10 |
T |
A |
2: 80,179,702 (GRCm39) |
S745R |
possibly damaging |
Het |
Dpp4 |
T |
C |
2: 62,182,601 (GRCm39) |
Y560C |
probably damaging |
Het |
Fbxl6 |
A |
G |
15: 76,421,541 (GRCm39) |
M232T |
probably benign |
Het |
Gm5414 |
A |
G |
15: 101,534,304 (GRCm39) |
F267L |
probably benign |
Het |
Heatr5a |
A |
G |
12: 51,924,120 (GRCm39) |
I2031T |
probably damaging |
Het |
Hmcn2 |
T |
G |
2: 31,290,139 (GRCm39) |
V2324G |
probably damaging |
Het |
Hnmt |
A |
T |
2: 23,909,157 (GRCm39) |
N85K |
probably damaging |
Het |
Kcng4 |
G |
T |
8: 120,352,822 (GRCm39) |
R363S |
probably damaging |
Het |
Kif18a |
T |
C |
2: 109,137,363 (GRCm39) |
|
probably benign |
Het |
Lrrc8b |
A |
T |
5: 105,629,703 (GRCm39) |
Y683F |
probably benign |
Het |
Mepce |
G |
T |
5: 137,782,757 (GRCm39) |
T523K |
probably benign |
Het |
Mroh1 |
T |
C |
15: 76,321,439 (GRCm39) |
V1040A |
possibly damaging |
Het |
Myof |
A |
G |
19: 37,913,083 (GRCm39) |
Y1470H |
probably damaging |
Het |
Otol1 |
T |
C |
3: 69,925,929 (GRCm39) |
S35P |
probably benign |
Het |
P4htm |
T |
C |
9: 108,459,161 (GRCm39) |
D257G |
probably benign |
Het |
Pcdhb15 |
A |
G |
18: 37,607,010 (GRCm39) |
T81A |
probably damaging |
Het |
Polg2 |
T |
C |
11: 106,669,946 (GRCm39) |
E108G |
probably benign |
Het |
Rfx7 |
T |
A |
9: 72,514,932 (GRCm39) |
H143Q |
probably damaging |
Het |
Sf3b2 |
A |
G |
19: 5,333,765 (GRCm39) |
V611A |
probably benign |
Het |
Slc10a7 |
G |
T |
8: 79,423,932 (GRCm39) |
K203N |
probably benign |
Het |
Slc12a5 |
T |
A |
2: 164,838,399 (GRCm39) |
V1046D |
probably benign |
Het |
Tacc2 |
A |
T |
7: 130,228,412 (GRCm39) |
D1718V |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,045,260 (GRCm39) |
I812N |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,790,736 (GRCm39) |
Y338C |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,149,335 (GRCm39) |
Y31C |
probably damaging |
Het |
Zfp654 |
A |
T |
16: 64,606,329 (GRCm39) |
N624K |
probably damaging |
Het |
|
Other mutations in Or5p50 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02252:Or5p50
|
APN |
7 |
107,422,353 (GRCm39) |
missense |
probably benign |
0.04 |
R0365:Or5p50
|
UTSW |
7 |
107,422,124 (GRCm39) |
nonsense |
probably null |
|
R0647:Or5p50
|
UTSW |
7 |
107,422,218 (GRCm39) |
missense |
probably benign |
0.02 |
R0863:Or5p50
|
UTSW |
7 |
107,422,581 (GRCm39) |
missense |
probably benign |
|
R1830:Or5p50
|
UTSW |
7 |
107,422,578 (GRCm39) |
missense |
probably benign |
0.02 |
R2189:Or5p50
|
UTSW |
7 |
107,421,822 (GRCm39) |
missense |
probably benign |
0.09 |
R2316:Or5p50
|
UTSW |
7 |
107,422,007 (GRCm39) |
missense |
probably benign |
0.25 |
R6187:Or5p50
|
UTSW |
7 |
107,421,781 (GRCm39) |
missense |
probably benign |
|
R6305:Or5p50
|
UTSW |
7 |
107,421,864 (GRCm39) |
missense |
probably benign |
0.01 |
R6774:Or5p50
|
UTSW |
7 |
107,422,395 (GRCm39) |
missense |
probably benign |
0.06 |
R7019:Or5p50
|
UTSW |
7 |
107,422,365 (GRCm39) |
missense |
probably benign |
0.04 |
R7205:Or5p50
|
UTSW |
7 |
107,421,782 (GRCm39) |
missense |
probably benign |
0.01 |
R7466:Or5p50
|
UTSW |
7 |
107,422,129 (GRCm39) |
nonsense |
probably null |
|
R8128:Or5p50
|
UTSW |
7 |
107,422,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R8251:Or5p50
|
UTSW |
7 |
107,421,776 (GRCm39) |
missense |
probably damaging |
0.98 |
R8252:Or5p50
|
UTSW |
7 |
107,421,776 (GRCm39) |
missense |
probably damaging |
0.98 |
R8253:Or5p50
|
UTSW |
7 |
107,421,776 (GRCm39) |
missense |
probably damaging |
0.98 |
R8791:Or5p50
|
UTSW |
7 |
107,422,557 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9008:Or5p50
|
UTSW |
7 |
107,422,628 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9381:Or5p50
|
UTSW |
7 |
107,421,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R9509:Or5p50
|
UTSW |
7 |
107,422,440 (GRCm39) |
missense |
probably benign |
|
Z1176:Or5p50
|
UTSW |
7 |
107,422,200 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |