Incidental Mutation 'IGL01926:Or5aq6'
| ID |
180307 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5aq6
|
| Ensembl Gene |
ENSMUSG00000075161 |
| Gene Name |
olfactory receptor family 5 subfamily AQ member 6 |
| Synonyms |
Olfr1109, GA_x6K02T2Q125-48586461-48585523, MOR172-5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL01926
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
86921539-86926352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86923318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 141
(C141Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099863]
[ENSMUST00000214636]
[ENSMUST00000217066]
|
| AlphaFold |
A2AT96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099863
AA Change: C141Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097449
Gene: ENSMUSG00000075161
AA Change: C141Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
8.3e-52 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.1e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214636
AA Change: C141Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217066
AA Change: C141Y
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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
T |
11: 110,026,155 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
C |
T |
7: 144,164,612 (GRCm39) |
V671M |
possibly damaging |
Het |
| Atf7ip2 |
G |
T |
16: 10,059,749 (GRCm39) |
D430Y |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,501,797 (GRCm39) |
D740E |
probably damaging |
Het |
| Bbs1 |
A |
C |
19: 4,952,891 (GRCm39) |
S191A |
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,777,679 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
A |
G |
19: 39,791,099 (GRCm39) |
I244T |
probably benign |
Het |
| Dsg1a |
G |
T |
18: 20,466,641 (GRCm39) |
D504Y |
possibly damaging |
Het |
| Eif3a |
T |
C |
19: 60,758,399 (GRCm39) |
D793G |
unknown |
Het |
| Exoc4 |
C |
A |
6: 33,839,077 (GRCm39) |
D704E |
probably damaging |
Het |
| Fmo5 |
A |
C |
3: 97,544,797 (GRCm39) |
T109P |
probably damaging |
Het |
| Ggt5 |
A |
G |
10: 75,439,935 (GRCm39) |
I179V |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Irs1 |
G |
T |
1: 82,267,680 (GRCm39) |
R179S |
probably damaging |
Het |
| Jmy |
A |
T |
13: 93,596,294 (GRCm39) |
V445E |
probably damaging |
Het |
| Jup |
C |
A |
11: 100,274,412 (GRCm39) |
V93F |
probably benign |
Het |
| Krt20 |
T |
C |
11: 99,328,652 (GRCm39) |
Y91C |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,013,063 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
C |
T |
2: 90,965,752 (GRCm39) |
T1188I |
possibly damaging |
Het |
| Myt1 |
T |
C |
2: 181,463,790 (GRCm39) |
L1032P |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,436,704 (GRCm39) |
N606K |
probably damaging |
Het |
| Nfrkb |
A |
T |
9: 31,325,475 (GRCm39) |
M973L |
probably benign |
Het |
| Or5b120 |
A |
T |
19: 13,480,105 (GRCm39) |
T133S |
possibly damaging |
Het |
| Parp8 |
T |
C |
13: 116,998,838 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,471,642 (GRCm39) |
M131K |
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,133,484 (GRCm39) |
S207T |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,314,306 (GRCm39) |
M1K |
probably null |
Het |
| Prr15 |
A |
G |
6: 54,306,490 (GRCm39) |
K83E |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,504,123 (GRCm39) |
N5S |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,357,485 (GRCm39) |
H169L |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,910,823 (GRCm39) |
I85V |
probably benign |
Het |
| Tmc2 |
T |
C |
2: 130,102,160 (GRCm39) |
I775T |
possibly damaging |
Het |
| Trnau1ap |
A |
T |
4: 132,046,873 (GRCm39) |
F141L |
probably benign |
Het |
| Zscan4d |
A |
G |
7: 10,898,921 (GRCm39) |
C119R |
probably damaging |
Het |
| Zswim9 |
A |
T |
7: 12,994,248 (GRCm39) |
V636D |
possibly damaging |
Het |
|
| Other mutations in Or5aq6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01341:Or5aq6
|
APN |
2 |
86,923,643 (GRCm39) |
missense |
probably benign |
|
|
IGL03195:Or5aq6
|
APN |
2 |
86,922,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Or5aq6
|
UTSW |
2 |
86,923,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1334:Or5aq6
|
UTSW |
2 |
86,923,571 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1677:Or5aq6
|
UTSW |
2 |
86,923,081 (GRCm39) |
missense |
probably benign |
|
|
R1753:Or5aq6
|
UTSW |
2 |
86,923,571 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3933:Or5aq6
|
UTSW |
2 |
86,923,106 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4151:Or5aq6
|
UTSW |
2 |
86,923,514 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4296:Or5aq6
|
UTSW |
2 |
86,922,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6654:Or5aq6
|
UTSW |
2 |
86,923,394 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6657:Or5aq6
|
UTSW |
2 |
86,923,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7697:Or5aq6
|
UTSW |
2 |
86,923,162 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8178:Or5aq6
|
UTSW |
2 |
86,923,220 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8413:Or5aq6
|
UTSW |
2 |
86,923,502 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8531:Or5aq6
|
UTSW |
2 |
86,923,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8681:Or5aq6
|
UTSW |
2 |
86,923,390 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8682:Or5aq6
|
UTSW |
2 |
86,923,390 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8771:Or5aq6
|
UTSW |
2 |
86,923,294 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9185:Or5aq6
|
UTSW |
2 |
86,923,200 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9387:Or5aq6
|
UTSW |
2 |
86,923,390 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9388:Or5aq6
|
UTSW |
2 |
86,923,390 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9389:Or5aq6
|
UTSW |
2 |
86,923,390 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9390:Or5aq6
|
UTSW |
2 |
86,923,390 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9483:Or5aq6
|
UTSW |
2 |
86,923,390 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9680:Or5aq6
|
UTSW |
2 |
86,923,390 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Z1176:Or5aq6
|
UTSW |
2 |
86,923,568 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2014-05-07 |
Incidental Mutation