Incidental Mutation 'IGL02177:Or9s27'
ID |
283138 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or9s27
|
Ensembl Gene |
ENSMUSG00000046300 |
Gene Name |
olfactory receptor family 9 subfamily S member 27 |
Synonyms |
MOR208-4, Olfr1412, GA_x6K02T2R7CC-81165686-81164721 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
IGL02177
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
92516054-92517019 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 92516479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 142
(M142I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150943
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062964]
[ENSMUST00000190505]
|
AlphaFold |
Q8VET3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062964
AA Change: M142I
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000060291 Gene: ENSMUSG00000046300 AA Change: M142I
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
27 |
N/A |
INTRINSIC |
Pfam:7tm_4
|
38 |
314 |
7.8e-47 |
PFAM |
Pfam:7tm_1
|
48 |
321 |
1.4e-26 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190505
AA Change: M142I
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204141
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
T |
G |
19: 53,205,323 (GRCm39) |
Y24* |
probably null |
Het |
Catsperb |
A |
G |
12: 101,507,721 (GRCm39) |
Y496C |
probably damaging |
Het |
Ccdc183 |
C |
T |
2: 25,502,095 (GRCm39) |
E260K |
probably benign |
Het |
Ccdc81 |
A |
C |
7: 89,524,988 (GRCm39) |
M531R |
possibly damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,386,964 (GRCm39) |
N342I |
probably benign |
Het |
Defb43 |
T |
C |
14: 63,249,266 (GRCm39) |
V3A |
probably benign |
Het |
Dpyd |
T |
A |
3: 118,858,559 (GRCm39) |
I591N |
possibly damaging |
Het |
Dpysl5 |
T |
G |
5: 30,902,622 (GRCm39) |
V18G |
probably damaging |
Het |
Erc2 |
A |
T |
14: 27,620,580 (GRCm39) |
M69L |
probably benign |
Het |
Fam184b |
G |
T |
5: 45,690,157 (GRCm39) |
Y817* |
probably null |
Het |
Fyb1 |
G |
T |
15: 6,688,047 (GRCm39) |
|
probably null |
Het |
Gpr33 |
G |
T |
12: 52,070,863 (GRCm39) |
Q59K |
probably benign |
Het |
Heatr3 |
T |
G |
8: 88,883,351 (GRCm39) |
F278V |
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,819,103 (GRCm39) |
D1292E |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,341,793 (GRCm39) |
M1861L |
probably benign |
Het |
Hspg2 |
T |
A |
4: 137,242,627 (GRCm39) |
L614Q |
probably damaging |
Het |
Itpr3 |
A |
G |
17: 27,318,588 (GRCm39) |
R915G |
possibly damaging |
Het |
Jhy |
T |
C |
9: 40,809,553 (GRCm39) |
D646G |
probably damaging |
Het |
Lrig1 |
T |
A |
6: 94,640,977 (GRCm39) |
N76I |
possibly damaging |
Het |
Macc1 |
A |
G |
12: 119,429,292 (GRCm39) |
D814G |
probably damaging |
Het |
Mapk8ip1 |
T |
C |
2: 92,217,092 (GRCm39) |
D401G |
probably damaging |
Het |
Nedd4 |
T |
A |
9: 72,654,439 (GRCm39) |
S865T |
probably damaging |
Het |
Pi4ka |
A |
T |
16: 17,136,146 (GRCm39) |
D937E |
probably benign |
Het |
Prkcd |
T |
A |
14: 30,327,844 (GRCm39) |
I81F |
probably damaging |
Het |
Ranbp9 |
A |
T |
13: 43,573,193 (GRCm39) |
C280S |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Scn1b |
T |
C |
7: 30,816,655 (GRCm39) |
*219W |
probably null |
Het |
Slain2 |
T |
C |
5: 73,072,008 (GRCm39) |
V14A |
probably benign |
Het |
Soat1 |
A |
T |
1: 156,268,073 (GRCm39) |
|
probably benign |
Het |
Tbc1d4 |
T |
A |
14: 101,692,375 (GRCm39) |
M1030L |
possibly damaging |
Het |
Tenm4 |
T |
C |
7: 96,544,869 (GRCm39) |
V2295A |
probably benign |
Het |
Tmem135 |
A |
G |
7: 88,987,661 (GRCm39) |
Y46H |
probably damaging |
Het |
Tnfsf18 |
A |
T |
1: 161,331,354 (GRCm39) |
D168V |
probably damaging |
Het |
Trdn |
T |
C |
10: 33,015,169 (GRCm39) |
V41A |
probably damaging |
Het |
Trpc5 |
G |
T |
X: 143,264,234 (GRCm39) |
L208I |
probably damaging |
Het |
Vmn1r50 |
T |
C |
6: 90,085,139 (GRCm39) |
Y295H |
probably benign |
Het |
Vmn2r18 |
T |
G |
5: 151,510,274 (GRCm39) |
H33P |
possibly damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,227,881 (GRCm39) |
I118M |
probably benign |
Het |
|
Other mutations in Or9s27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01472:Or9s27
|
APN |
1 |
92,516,694 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL02507:Or9s27
|
APN |
1 |
92,516,648 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02888:Or9s27
|
APN |
1 |
92,516,925 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03001:Or9s27
|
APN |
1 |
92,516,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R1771:Or9s27
|
UTSW |
1 |
92,516,837 (GRCm39) |
missense |
probably benign |
0.03 |
R1780:Or9s27
|
UTSW |
1 |
92,516,111 (GRCm39) |
missense |
probably benign |
0.01 |
R2215:Or9s27
|
UTSW |
1 |
92,516,708 (GRCm39) |
missense |
probably benign |
0.00 |
R2437:Or9s27
|
UTSW |
1 |
92,516,688 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3176:Or9s27
|
UTSW |
1 |
92,516,535 (GRCm39) |
missense |
probably benign |
0.32 |
R3177:Or9s27
|
UTSW |
1 |
92,516,535 (GRCm39) |
missense |
probably benign |
0.32 |
R3276:Or9s27
|
UTSW |
1 |
92,516,535 (GRCm39) |
missense |
probably benign |
0.32 |
R3277:Or9s27
|
UTSW |
1 |
92,516,535 (GRCm39) |
missense |
probably benign |
0.32 |
R4475:Or9s27
|
UTSW |
1 |
92,516,301 (GRCm39) |
missense |
probably benign |
0.00 |
R4892:Or9s27
|
UTSW |
1 |
92,516,643 (GRCm39) |
missense |
probably benign |
0.05 |
R5910:Or9s27
|
UTSW |
1 |
92,516,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R6808:Or9s27
|
UTSW |
1 |
92,516,768 (GRCm39) |
missense |
probably damaging |
0.99 |
R7130:Or9s27
|
UTSW |
1 |
92,516,634 (GRCm39) |
missense |
probably benign |
0.10 |
R7476:Or9s27
|
UTSW |
1 |
92,516,986 (GRCm39) |
missense |
probably benign |
|
R9695:Or9s27
|
UTSW |
1 |
92,516,595 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Or9s27
|
UTSW |
1 |
92,516,273 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Or9s27
|
UTSW |
1 |
92,516,100 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |