Incidental Mutation 'IGL03339:Or10al2'
ID |
417130 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or10al2
|
Ensembl Gene |
ENSMUSG00000080990 |
Gene Name |
olfactory receptor family 10 subfamily AL member 2 |
Synonyms |
GA_x6K02T2PSCP-2131124-2132089, MOR263-13, Olfr118 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
IGL03339
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
37982916-37983888 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 37983448 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 178
(C178Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122036]
[ENSMUST00000215811]
[ENSMUST00000216551]
|
AlphaFold |
Q7TRJ6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122036
AA Change: C178Y
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113988 Gene: ENSMUSG00000080990 AA Change: C178Y
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srv
|
32 |
173 |
2e-6 |
PFAM |
Pfam:7tm_4
|
37 |
314 |
2.1e-57 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
41 |
311 |
5.8e-6 |
PFAM |
Pfam:7tm_1
|
47 |
296 |
1.4e-24 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215811
AA Change: C178Y
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216551
AA Change: C178Y
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
G |
2: 152,284,376 (GRCm39) |
E323G |
probably damaging |
Het |
A4gnt |
T |
C |
9: 99,502,601 (GRCm39) |
S254P |
probably damaging |
Het |
Actn4 |
A |
G |
7: 28,601,407 (GRCm39) |
L447P |
probably damaging |
Het |
Agbl2 |
C |
A |
2: 90,627,907 (GRCm39) |
S237R |
probably damaging |
Het |
Apc |
G |
A |
18: 34,431,527 (GRCm39) |
D309N |
probably damaging |
Het |
Arhgef3 |
A |
G |
14: 27,123,814 (GRCm39) |
M492V |
probably damaging |
Het |
Atp10b |
T |
A |
11: 43,121,442 (GRCm39) |
M1035K |
probably null |
Het |
Cfap69 |
T |
A |
5: 5,636,436 (GRCm39) |
|
probably benign |
Het |
Ctf1 |
A |
G |
7: 127,313,166 (GRCm39) |
N24S |
probably benign |
Het |
Cx3cr1 |
T |
A |
9: 119,880,503 (GRCm39) |
K300* |
probably null |
Het |
Ddx25 |
A |
T |
9: 35,453,299 (GRCm39) |
Y484N |
probably damaging |
Het |
Eif4g1 |
A |
G |
16: 20,499,734 (GRCm39) |
E506G |
possibly damaging |
Het |
Ficd |
G |
T |
5: 113,876,800 (GRCm39) |
R325L |
probably benign |
Het |
G6pc2 |
A |
G |
2: 69,051,239 (GRCm39) |
|
probably benign |
Het |
Gm11168 |
C |
A |
9: 3,004,767 (GRCm39) |
P103T |
probably benign |
Het |
Hbb-y |
A |
T |
7: 103,501,976 (GRCm39) |
H98Q |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,577,720 (GRCm39) |
S2014P |
probably benign |
Het |
Hoxc5 |
T |
C |
15: 102,922,568 (GRCm39) |
Y19H |
probably damaging |
Het |
Igfbpl1 |
A |
G |
4: 45,813,555 (GRCm39) |
|
probably benign |
Het |
Ighg2c |
A |
C |
12: 113,251,614 (GRCm39) |
V171G |
unknown |
Het |
Kctd13 |
A |
G |
7: 126,544,190 (GRCm39) |
D296G |
probably benign |
Het |
Mfsd2b |
A |
C |
12: 4,924,335 (GRCm39) |
M1R |
probably null |
Het |
Nipbl |
A |
G |
15: 8,380,360 (GRCm39) |
S811P |
probably benign |
Het |
Or10al3 |
G |
T |
17: 38,011,682 (GRCm39) |
M40I |
probably damaging |
Het |
Or52r1 |
G |
A |
7: 102,536,989 (GRCm39) |
R124C |
probably benign |
Het |
Or5b122 |
T |
G |
19: 13,563,439 (GRCm39) |
M257R |
probably damaging |
Het |
Pcolce2 |
T |
C |
9: 95,560,393 (GRCm39) |
|
probably benign |
Het |
Pik3c2a |
G |
T |
7: 116,017,256 (GRCm39) |
T167K |
possibly damaging |
Het |
Ppp1r18 |
A |
G |
17: 36,178,938 (GRCm39) |
D271G |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,333,830 (GRCm39) |
I3013T |
probably damaging |
Het |
Rock1 |
A |
T |
18: 10,097,493 (GRCm39) |
M765K |
probably benign |
Het |
Sec16a |
T |
C |
2: 26,325,945 (GRCm39) |
Y1244C |
probably benign |
Het |
Taar7d |
T |
C |
10: 23,903,204 (GRCm39) |
C29R |
possibly damaging |
Het |
Tlcd4 |
C |
T |
3: 121,022,489 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
C |
2: 76,572,264 (GRCm39) |
F26210V |
probably damaging |
Het |
Ube2b |
A |
T |
11: 51,877,534 (GRCm39) |
V145D |
probably damaging |
Het |
Vmn1r219 |
T |
G |
13: 23,347,580 (GRCm39) |
S256R |
possibly damaging |
Het |
|
Other mutations in Or10al2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01300:Or10al2
|
APN |
17 |
37,983,778 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02456:Or10al2
|
APN |
17 |
37,983,340 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02750:Or10al2
|
APN |
17 |
37,983,500 (GRCm39) |
nonsense |
probably null |
|
IGL03083:Or10al2
|
APN |
17 |
37,983,551 (GRCm39) |
nonsense |
probably null |
|
R0032:Or10al2
|
UTSW |
17 |
37,983,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R1457:Or10al2
|
UTSW |
17 |
37,983,816 (GRCm39) |
nonsense |
probably null |
|
R1542:Or10al2
|
UTSW |
17 |
37,983,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R1771:Or10al2
|
UTSW |
17 |
37,983,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R1893:Or10al2
|
UTSW |
17 |
37,983,747 (GRCm39) |
nonsense |
probably null |
|
R2395:Or10al2
|
UTSW |
17 |
37,983,587 (GRCm39) |
nonsense |
probably null |
|
R3619:Or10al2
|
UTSW |
17 |
37,983,531 (GRCm39) |
missense |
probably benign |
0.05 |
R3917:Or10al2
|
UTSW |
17 |
37,983,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R3937:Or10al2
|
UTSW |
17 |
37,983,858 (GRCm39) |
missense |
probably benign |
0.01 |
R5600:Or10al2
|
UTSW |
17 |
37,983,176 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6415:Or10al2
|
UTSW |
17 |
37,983,448 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6462:Or10al2
|
UTSW |
17 |
37,983,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R7355:Or10al2
|
UTSW |
17 |
37,983,301 (GRCm39) |
missense |
probably benign |
0.02 |
R7861:Or10al2
|
UTSW |
17 |
37,983,408 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7913:Or10al2
|
UTSW |
17 |
37,982,999 (GRCm39) |
missense |
probably benign |
|
R7952:Or10al2
|
UTSW |
17 |
37,983,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R7969:Or10al2
|
UTSW |
17 |
37,983,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R8879:Or10al2
|
UTSW |
17 |
37,983,302 (GRCm39) |
nonsense |
probably null |
|
R8923:Or10al2
|
UTSW |
17 |
37,983,702 (GRCm39) |
missense |
probably benign |
0.00 |
R9253:Or10al2
|
UTSW |
17 |
37,983,637 (GRCm39) |
missense |
probably benign |
0.00 |
R9778:Or10al2
|
UTSW |
17 |
37,983,145 (GRCm39) |
missense |
probably damaging |
0.97 |
R9789:Or10al2
|
UTSW |
17 |
37,983,059 (GRCm39) |
missense |
probably damaging |
1.00 |
RF003:Or10al2
|
UTSW |
17 |
37,983,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |