Incidental Mutation 'IGL01392:Or5b95'
| ID |
79244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5b95
|
| Ensembl Gene |
ENSMUSG00000045030 |
| Gene Name |
olfactory receptor family 5 subfamily B member 95 |
| Synonyms |
MOR202-8, Olfr1443, GA_x6K02T2RE5P-3006492-3007430 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL01392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
12655530-12661215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12658167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 232
(Y232N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049724]
[ENSMUST00000207341]
[ENSMUST00000208494]
[ENSMUST00000208657]
[ENSMUST00000213486]
[ENSMUST00000215134]
|
| AlphaFold |
Q8VFW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049724
AA Change: Y232N
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000059886
Gene: ENSMUSG00000045030
AA Change: Y232N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
2.4e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
303 |
1.5e-6 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
8.6e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207341
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208407
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208494
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208657
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213486
AA Change: Y232N
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215134
AA Change: Y232N
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
A |
G |
2: 58,390,558 (GRCm39) |
V2A |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,760,903 (GRCm39) |
Q866L |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,935,914 (GRCm39) |
E295G |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,408,348 (GRCm39) |
D2053G |
unknown |
Het |
| Calr4 |
A |
G |
4: 109,111,071 (GRCm39) |
E272G |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,225,714 (GRCm39) |
S3125G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,165,948 (GRCm39) |
Y538H |
probably damaging |
Het |
| Eri3 |
T |
C |
4: 117,446,356 (GRCm39) |
|
probably null |
Het |
| Fmo6 |
T |
A |
1: 162,757,580 (GRCm39) |
R63* |
probably null |
Het |
| Gm7168 |
G |
A |
17: 14,169,169 (GRCm39) |
D179N |
probably benign |
Het |
| Got1l1 |
T |
C |
8: 27,688,019 (GRCm39) |
T337A |
probably damaging |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,962 (GRCm39) |
I98V |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,923,236 (GRCm39) |
M1191T |
probably benign |
Het |
| Ighv1-54 |
A |
G |
12: 115,157,557 (GRCm39) |
L30P |
probably damaging |
Het |
| Igkv8-30 |
A |
G |
6: 70,094,331 (GRCm39) |
S27P |
probably benign |
Het |
| Kcnab2 |
A |
T |
4: 152,478,254 (GRCm39) |
V335E |
possibly damaging |
Het |
| Klf12 |
A |
T |
14: 100,387,193 (GRCm39) |
I3N |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,063,174 (GRCm39) |
V2510A |
probably benign |
Het |
| Mme |
A |
G |
3: 63,269,467 (GRCm39) |
D592G |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,112,127 (GRCm39) |
N1727S |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,231,420 (GRCm39) |
S796P |
probably damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,797,120 (GRCm39) |
|
probably benign |
Het |
| Or51f23 |
T |
A |
7: 102,453,061 (GRCm39) |
Y125* |
probably null |
Het |
| Or5p80 |
C |
T |
7: 108,229,885 (GRCm39) |
R229C |
probably benign |
Het |
| Plekhm2 |
A |
G |
4: 141,369,737 (GRCm39) |
V86A |
probably damaging |
Het |
| Popdc2 |
G |
T |
16: 38,194,493 (GRCm39) |
V305L |
probably benign |
Het |
| Prb1b |
T |
C |
6: 132,289,383 (GRCm39) |
N147S |
unknown |
Het |
| Rttn |
C |
T |
18: 89,013,737 (GRCm39) |
H469Y |
probably benign |
Het |
| Slc2a12 |
T |
C |
10: 22,540,583 (GRCm39) |
V146A |
probably damaging |
Het |
| Sptlc3 |
A |
G |
2: 139,388,341 (GRCm39) |
E111G |
possibly damaging |
Het |
| Zfp108 |
T |
C |
7: 23,957,872 (GRCm39) |
|
probably benign |
Het |
| Zfp719 |
T |
A |
7: 43,240,554 (GRCm39) |
F714Y |
probably damaging |
Het |
|
| Other mutations in Or5b95 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01322:Or5b95
|
APN |
19 |
12,658,113 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01470:Or5b95
|
APN |
19 |
12,658,035 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03106:Or5b95
|
APN |
19 |
12,658,287 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2036:Or5b95
|
UTSW |
19 |
12,658,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3942:Or5b95
|
UTSW |
19 |
12,657,768 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5459:Or5b95
|
UTSW |
19 |
12,657,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Or5b95
|
UTSW |
19 |
12,658,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Or5b95
|
UTSW |
19 |
12,658,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6879:Or5b95
|
UTSW |
19 |
12,658,135 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6991:Or5b95
|
UTSW |
19 |
12,658,112 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7084:Or5b95
|
UTSW |
19 |
12,658,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7352:Or5b95
|
UTSW |
19 |
12,658,115 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7749:Or5b95
|
UTSW |
19 |
12,657,576 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8133:Or5b95
|
UTSW |
19 |
12,657,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8163:Or5b95
|
UTSW |
19 |
12,657,552 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8941:Or5b95
|
UTSW |
19 |
12,657,471 (GRCm39) |
start gained |
probably benign |
|
|
R9109:Or5b95
|
UTSW |
19 |
12,658,190 (GRCm39) |
nonsense |
probably null |
|
|
R9176:Or5b95
|
UTSW |
19 |
12,657,600 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9298:Or5b95
|
UTSW |
19 |
12,658,190 (GRCm39) |
nonsense |
probably null |
|
|
R9414:Or5b95
|
UTSW |
19 |
12,657,712 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-11-05 |
Incidental Mutation