Incidental Mutation 'IGL01521:Or5aq1b'
| ID |
90515 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5aq1b
|
| Ensembl Gene |
ENSMUSG00000075163 |
| Gene Name |
olfactory receptor family 5 subfamily AQ member 1B |
| Synonyms |
GA_x6K02T2Q125-48565383-48564445, Olfr1107, MOR172-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL01521
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
86901459-86902567 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86902077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 134
(V134I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099865]
[ENSMUST00000214049]
|
| AlphaFold |
A2AVB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099865
AA Change: V134I
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000097450
Gene: ENSMUSG00000075163
AA Change: V134I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.9e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.9e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214049
AA Change: V134I
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
T |
8: 111,770,419 (GRCm39) |
I406F |
possibly damaging |
Het |
| Adgrb2 |
A |
G |
4: 129,886,085 (GRCm39) |
E75G |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,136,215 (GRCm39) |
Y467H |
probably damaging |
Het |
| Arap1 |
G |
T |
7: 101,049,812 (GRCm39) |
|
probably null |
Het |
| Arfgap1 |
G |
A |
2: 180,613,371 (GRCm39) |
C22Y |
probably damaging |
Het |
| Artn |
G |
A |
4: 117,784,484 (GRCm39) |
P25S |
probably damaging |
Het |
| Bicra |
G |
T |
7: 15,723,113 (GRCm39) |
Q135K |
probably benign |
Het |
| Clpx |
T |
C |
9: 65,226,026 (GRCm39) |
V367A |
probably damaging |
Het |
| Clstn3 |
C |
T |
6: 124,434,990 (GRCm39) |
W308* |
probably null |
Het |
| Cpb2 |
T |
A |
14: 75,495,071 (GRCm39) |
V67D |
probably damaging |
Het |
| Cyp2c38 |
A |
G |
19: 39,449,114 (GRCm39) |
Y80H |
probably damaging |
Het |
| Dbt |
A |
G |
3: 116,327,032 (GRCm39) |
D127G |
probably benign |
Het |
| Elp1 |
T |
A |
4: 56,771,059 (GRCm39) |
E961D |
probably benign |
Het |
| Fhod1 |
G |
A |
8: 106,057,055 (GRCm39) |
A973V |
probably benign |
Het |
| Flacc1 |
T |
G |
1: 58,709,553 (GRCm39) |
K201Q |
probably damaging |
Het |
| Focad |
A |
T |
4: 88,328,927 (GRCm39) |
*1713C |
probably null |
Het |
| Gemin5 |
A |
T |
11: 58,025,744 (GRCm39) |
|
probably benign |
Het |
| Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
| Kif23 |
T |
A |
9: 61,827,182 (GRCm39) |
T890S |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,836,618 (GRCm39) |
S52T |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,763,083 (GRCm39) |
D53E |
probably damaging |
Het |
| Lrrc14b |
G |
A |
13: 74,511,691 (GRCm39) |
R130C |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,467,704 (GRCm39) |
I1046K |
probably damaging |
Het |
| Napsa |
A |
T |
7: 44,236,061 (GRCm39) |
I367F |
probably damaging |
Het |
| Or8b56 |
A |
T |
9: 38,739,185 (GRCm39) |
Y66F |
probably damaging |
Het |
| Rgcc |
T |
G |
14: 79,538,185 (GRCm39) |
S69R |
probably damaging |
Het |
| Rin3 |
T |
A |
12: 102,335,307 (GRCm39) |
I326N |
probably benign |
Het |
| Sipa1 |
C |
A |
19: 5,711,006 (GRCm39) |
M1I |
probably null |
Het |
| Sirpb1a |
T |
A |
3: 15,475,561 (GRCm39) |
M325L |
probably benign |
Het |
| Sult1a1 |
C |
A |
7: 126,274,451 (GRCm39) |
V71F |
possibly damaging |
Het |
| Tgds |
G |
T |
14: 118,350,506 (GRCm39) |
P349Q |
probably damaging |
Het |
| Tmem63c |
T |
A |
12: 87,115,918 (GRCm39) |
H186Q |
probably damaging |
Het |
| Trappc9 |
A |
G |
15: 72,924,016 (GRCm39) |
L242S |
probably damaging |
Het |
| Trip12 |
T |
A |
1: 84,743,919 (GRCm39) |
|
probably benign |
Het |
| Zfp451 |
T |
C |
1: 33,816,412 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or5aq1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:Or5aq1b
|
APN |
2 |
86,901,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03350:Or5aq1b
|
APN |
2 |
86,901,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4791001:Or5aq1b
|
UTSW |
2 |
86,902,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0801:Or5aq1b
|
UTSW |
2 |
86,902,407 (GRCm39) |
nonsense |
probably null |
|
|
R1383:Or5aq1b
|
UTSW |
2 |
86,902,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1577:Or5aq1b
|
UTSW |
2 |
86,901,741 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1762:Or5aq1b
|
UTSW |
2 |
86,902,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Or5aq1b
|
UTSW |
2 |
86,901,897 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3850:Or5aq1b
|
UTSW |
2 |
86,902,310 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5345:Or5aq1b
|
UTSW |
2 |
86,901,836 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5409:Or5aq1b
|
UTSW |
2 |
86,902,214 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5451:Or5aq1b
|
UTSW |
2 |
86,902,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5735:Or5aq1b
|
UTSW |
2 |
86,901,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6091:Or5aq1b
|
UTSW |
2 |
86,901,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6869:Or5aq1b
|
UTSW |
2 |
86,902,017 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7080:Or5aq1b
|
UTSW |
2 |
86,902,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8130:Or5aq1b
|
UTSW |
2 |
86,901,570 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8147:Or5aq1b
|
UTSW |
2 |
86,902,017 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9087:Or5aq1b
|
UTSW |
2 |
86,902,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9619:Or5aq1b
|
UTSW |
2 |
86,902,140 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Or5aq1b
|
UTSW |
2 |
86,902,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or5aq1b
|
UTSW |
2 |
86,902,109 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2013-12-09 |
Incidental Mutation