Incidental Mutation 'IGL02371:Or11i1'
| ID |
290929 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or11i1
|
| Ensembl Gene |
ENSMUSG00000043529 |
| Gene Name |
olfactory receptor family 11 subfamily I member 1 |
| Synonyms |
GA_x6K02T2N6GK-529983-529033, Olfr266, MOR122-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL02371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
106728923-106729873 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106729362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 171
(F171Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059486]
[ENSMUST00000213616]
[ENSMUST00000216610]
|
| AlphaFold |
Q8VFC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059486
AA Change: F171Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054070
Gene: ENSMUSG00000043529
AA Change: F171Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
1.2e-58 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
5.4e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213616
AA Change: F171Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216610
AA Change: F171Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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 |
|---|
| Arfgef3 |
T |
C |
10: 18,522,287 (GRCm39) |
T580A |
probably benign |
Het |
| Casp2 |
T |
A |
6: 42,244,902 (GRCm39) |
D100E |
probably benign |
Het |
| Cd1d1 |
C |
A |
3: 86,906,188 (GRCm39) |
R29L |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyct |
A |
G |
2: 76,184,434 (GRCm39) |
*106R |
probably null |
Het |
| Enam |
A |
G |
5: 88,650,668 (GRCm39) |
I726V |
probably benign |
Het |
| Epha3 |
T |
G |
16: 63,405,383 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,329,453 (GRCm39) |
D632G |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,384 (GRCm39) |
N125S |
possibly damaging |
Het |
| Fbxo32 |
A |
T |
15: 58,044,860 (GRCm39) |
|
probably benign |
Het |
| Foxa1 |
T |
C |
12: 57,589,486 (GRCm39) |
T245A |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,042,452 (GRCm39) |
V395A |
probably benign |
Het |
| Gimap5 |
A |
T |
6: 48,729,937 (GRCm39) |
N169I |
probably damaging |
Het |
| Itgav |
A |
G |
2: 83,600,397 (GRCm39) |
M266V |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,785,238 (GRCm39) |
S63F |
probably damaging |
Het |
| Lpp |
G |
A |
16: 24,580,361 (GRCm39) |
A26T |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,994 (GRCm39) |
Y159H |
probably damaging |
Het |
| Lzts1 |
A |
T |
8: 69,591,450 (GRCm39) |
S233T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,676,860 (GRCm39) |
|
probably benign |
Het |
| Nrf1 |
A |
T |
6: 30,118,990 (GRCm39) |
I382F |
possibly damaging |
Het |
| Or1m1 |
G |
T |
9: 18,666,000 (GRCm39) |
S310R |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,639,259 (GRCm39) |
V63D |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,595,427 (GRCm39) |
N484K |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,691 (GRCm39) |
|
probably null |
Het |
| Pot1b |
A |
G |
17: 56,002,092 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Ptchd4 |
G |
A |
17: 42,627,865 (GRCm39) |
G109S |
possibly damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,904,527 (GRCm39) |
N119S |
probably benign |
Het |
| Rbm22 |
C |
T |
18: 60,705,028 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,661,414 (GRCm39) |
S480R |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,275,535 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or11i1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01869:Or11i1
|
APN |
3 |
106,729,342 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01954:Or11i1
|
APN |
3 |
106,729,311 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02792:Or11i1
|
APN |
3 |
106,729,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4131001:Or11i1
|
UTSW |
3 |
106,729,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0540:Or11i1
|
UTSW |
3 |
106,729,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1925:Or11i1
|
UTSW |
3 |
106,729,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2026:Or11i1
|
UTSW |
3 |
106,729,027 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4195:Or11i1
|
UTSW |
3 |
106,729,328 (GRCm39) |
nonsense |
probably null |
|
|
R4735:Or11i1
|
UTSW |
3 |
106,728,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4789:Or11i1
|
UTSW |
3 |
106,729,624 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4789:Or11i1
|
UTSW |
3 |
106,729,608 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4922:Or11i1
|
UTSW |
3 |
106,729,576 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6318:Or11i1
|
UTSW |
3 |
106,729,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6359:Or11i1
|
UTSW |
3 |
106,729,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6505:Or11i1
|
UTSW |
3 |
106,729,638 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7605:Or11i1
|
UTSW |
3 |
106,729,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8529:Or11i1
|
UTSW |
3 |
106,729,109 (GRCm39) |
nonsense |
probably null |
|
|
R8998:Or11i1
|
UTSW |
3 |
106,728,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8999:Or11i1
|
UTSW |
3 |
106,728,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9255:Or11i1
|
UTSW |
3 |
106,729,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9260:Or11i1
|
UTSW |
3 |
106,729,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9771:Or11i1
|
UTSW |
3 |
106,729,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1176:Or11i1
|
UTSW |
3 |
106,729,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation