Incidental Mutation 'IGL02510:Or2av9'
| ID |
296489 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2av9
|
| Ensembl Gene |
ENSMUSG00000050813 |
| Gene Name |
olfactory receptor family 2 subfamily AV member 9 |
| Synonyms |
GA_x6K02T2NKPP-926908-927915, Olfr332, MOR284-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL02510
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
58380545-58383325 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58381365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 72
(Y72C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000180165]
[ENSMUST00000203744]
|
| AlphaFold |
Q5NC45 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180165
AA Change: Y72C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136008
Gene: ENSMUSG00000050813
AA Change: Y72C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
289 |
6.8e-33 |
PFAM |
|
Pfam:7tm_4
|
138 |
282 |
4.1e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203744
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts4 |
G |
A |
1: 171,078,959 (GRCm39) |
S193N |
probably benign |
Het |
| Arrdc1 |
C |
A |
2: 24,825,112 (GRCm39) |
V16F |
probably damaging |
Het |
| Bhmt1b |
A |
G |
18: 87,775,653 (GRCm39) |
Q392R |
probably benign |
Het |
| Bsx |
A |
T |
9: 40,785,517 (GRCm39) |
Q15L |
possibly damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,639,704 (GRCm39) |
T253A |
probably benign |
Het |
| Cdkl3 |
T |
C |
11: 51,902,097 (GRCm39) |
L102P |
probably damaging |
Het |
| Cgnl1 |
G |
T |
9: 71,632,639 (GRCm39) |
N237K |
probably benign |
Het |
| Cldn14 |
T |
A |
16: 93,716,844 (GRCm39) |
M1L |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,516,398 (GRCm39) |
R171C |
unknown |
Het |
| Col7a1 |
C |
A |
9: 108,802,299 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dhrs2 |
G |
A |
14: 55,473,532 (GRCm39) |
V64M |
probably damaging |
Het |
| Disp3 |
G |
A |
4: 148,337,158 (GRCm39) |
H886Y |
probably benign |
Het |
| Dst |
G |
A |
1: 34,268,332 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
T |
C |
2: 90,581,819 (GRCm39) |
V215A |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,469 (GRCm39) |
L472P |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,319,973 (GRCm39) |
R15Q |
possibly damaging |
Het |
| Htra2 |
A |
G |
6: 83,028,592 (GRCm39) |
V412A |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,805,876 (GRCm39) |
F722S |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,723,154 (GRCm39) |
T741A |
probably benign |
Het |
| Kl |
A |
C |
5: 150,912,466 (GRCm39) |
E738D |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,036,506 (GRCm39) |
I178L |
probably damaging |
Het |
| Klra9 |
T |
C |
6: 130,168,185 (GRCm39) |
E27G |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,957,125 (GRCm39) |
Y2145H |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,147,041 (GRCm39) |
M417K |
probably benign |
Het |
| Med31 |
C |
T |
11: 72,102,882 (GRCm39) |
M75I |
probably benign |
Het |
| Mpeg1 |
A |
T |
19: 12,438,788 (GRCm39) |
D82V |
probably damaging |
Het |
| Msto1 |
A |
G |
3: 88,817,652 (GRCm39) |
Y439H |
probably damaging |
Het |
| Or1e17 |
G |
A |
11: 73,831,831 (GRCm39) |
G253E |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,458,693 (GRCm39) |
S28P |
possibly damaging |
Het |
| Or5p64 |
T |
A |
7: 107,855,348 (GRCm39) |
|
probably benign |
Het |
| Prtg |
G |
A |
9: 72,798,151 (GRCm39) |
V706M |
probably damaging |
Het |
| Sfxn2 |
G |
T |
19: 46,576,711 (GRCm39) |
A186S |
probably benign |
Het |
| Slc12a5 |
A |
T |
2: 164,824,728 (GRCm39) |
|
probably benign |
Het |
| Slc7a3 |
T |
C |
X: 100,126,439 (GRCm39) |
E222G |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,499,826 (GRCm39) |
H911Q |
probably benign |
Het |
| Sult3a2 |
A |
T |
10: 33,642,435 (GRCm39) |
N289K |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,622,945 (GRCm39) |
|
probably benign |
Het |
| Tchh |
A |
G |
3: 93,351,385 (GRCm39) |
E275G |
unknown |
Het |
| Tectb |
A |
T |
19: 55,179,943 (GRCm39) |
N263I |
probably damaging |
Het |
| Tsga10 |
C |
T |
1: 37,800,066 (GRCm39) |
R608Q |
possibly damaging |
Het |
| Ttyh3 |
A |
G |
5: 140,615,219 (GRCm39) |
Y390H |
probably damaging |
Het |
| Utf1 |
C |
A |
7: 139,523,929 (GRCm39) |
S48* |
probably null |
Het |
| Zfp358 |
G |
A |
8: 3,546,786 (GRCm39) |
G456D |
probably benign |
Het |
| Zup1 |
A |
G |
10: 33,806,150 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or2av9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1671:Or2av9
|
UTSW |
11 |
58,381,435 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2193:Or2av9
|
UTSW |
11 |
58,380,732 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2393:Or2av9
|
UTSW |
11 |
58,381,546 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4713:Or2av9
|
UTSW |
11 |
58,380,913 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5328:Or2av9
|
UTSW |
11 |
58,381,255 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5636:Or2av9
|
UTSW |
11 |
58,380,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6092:Or2av9
|
UTSW |
11 |
58,380,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Or2av9
|
UTSW |
11 |
58,380,970 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7172:Or2av9
|
UTSW |
11 |
58,380,571 (GRCm39) |
missense |
unknown |
|
|
R7427:Or2av9
|
UTSW |
11 |
58,380,606 (GRCm39) |
missense |
probably benign |
|
|
R8832:Or2av9
|
UTSW |
11 |
58,381,063 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9159:Or2av9
|
UTSW |
11 |
58,381,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9289:Or2av9
|
UTSW |
11 |
58,380,745 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1186:Or2av9
|
UTSW |
11 |
58,381,314 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Or2av9
|
UTSW |
11 |
58,381,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1186:Or2av9
|
UTSW |
11 |
58,380,574 (GRCm39) |
nonsense |
probably null |
|
|
Z1187:Or2av9
|
UTSW |
11 |
58,381,314 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2av9
|
UTSW |
11 |
58,381,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1187:Or2av9
|
UTSW |
11 |
58,380,574 (GRCm39) |
nonsense |
probably null |
|
|
Z1188:Or2av9
|
UTSW |
11 |
58,381,314 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2av9
|
UTSW |
11 |
58,381,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1188:Or2av9
|
UTSW |
11 |
58,380,574 (GRCm39) |
nonsense |
probably null |
|
|
Z1189:Or2av9
|
UTSW |
11 |
58,381,314 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Or2av9
|
UTSW |
11 |
58,381,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1189:Or2av9
|
UTSW |
11 |
58,380,574 (GRCm39) |
nonsense |
probably null |
|
|
Z1190:Or2av9
|
UTSW |
11 |
58,381,314 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2av9
|
UTSW |
11 |
58,381,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1190:Or2av9
|
UTSW |
11 |
58,380,574 (GRCm39) |
nonsense |
probably null |
|
|
Z1191:Or2av9
|
UTSW |
11 |
58,381,314 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2av9
|
UTSW |
11 |
58,381,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1191:Or2av9
|
UTSW |
11 |
58,380,574 (GRCm39) |
nonsense |
probably null |
|
|
Z1192:Or2av9
|
UTSW |
11 |
58,381,314 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2av9
|
UTSW |
11 |
58,381,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1192:Or2av9
|
UTSW |
11 |
58,380,574 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation