Incidental Mutation 'IGL03339:Or10al3'
ID |
417131 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or10al3
|
Ensembl Gene |
ENSMUSG00000059964 |
Gene Name |
olfactory receptor family 10 subfamily AL member 3 |
Synonyms |
GA_x6K02T2PSCP-2159633-2160598, MOR263-7, Olfr119 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
IGL03339
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
38007576-38012611 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 38011682 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 40
(M40I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080483]
[ENSMUST00000213732]
|
AlphaFold |
Q7TRJ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080483
AA Change: M40I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000092919 Gene: ENSMUSG00000059964 AA Change: M40I
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
37 |
314 |
5.6e-59 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
41 |
311 |
1.7e-5 |
PFAM |
Pfam:7tm_1
|
47 |
296 |
3.1e-23 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213732
AA Change: M40I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
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 |
Or10al2 |
G |
A |
17: 37,983,448 (GRCm39) |
C178Y |
possibly 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 Or10al3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02209:Or10al3
|
APN |
17 |
38,011,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Or10al3
|
UTSW |
17 |
38,011,696 (GRCm39) |
missense |
probably damaging |
0.98 |
R0207:Or10al3
|
UTSW |
17 |
38,011,949 (GRCm39) |
nonsense |
probably null |
|
R0378:Or10al3
|
UTSW |
17 |
38,011,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R0408:Or10al3
|
UTSW |
17 |
38,012,190 (GRCm39) |
missense |
probably benign |
|
R0483:Or10al3
|
UTSW |
17 |
38,012,188 (GRCm39) |
missense |
probably benign |
0.01 |
R1595:Or10al3
|
UTSW |
17 |
38,012,004 (GRCm39) |
missense |
probably benign |
0.03 |
R1901:Or10al3
|
UTSW |
17 |
38,012,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Or10al3
|
UTSW |
17 |
38,012,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R2845:Or10al3
|
UTSW |
17 |
38,011,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R2846:Or10al3
|
UTSW |
17 |
38,011,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R4356:Or10al3
|
UTSW |
17 |
38,011,790 (GRCm39) |
missense |
probably damaging |
0.97 |
R4381:Or10al3
|
UTSW |
17 |
38,011,790 (GRCm39) |
missense |
probably damaging |
0.97 |
R6744:Or10al3
|
UTSW |
17 |
38,012,336 (GRCm39) |
nonsense |
probably null |
|
R7674:Or10al3
|
UTSW |
17 |
38,011,573 (GRCm39) |
missense |
probably benign |
0.03 |
R7677:Or10al3
|
UTSW |
17 |
38,011,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R7994:Or10al3
|
UTSW |
17 |
38,012,326 (GRCm39) |
missense |
probably damaging |
0.99 |
R8305:Or10al3
|
UTSW |
17 |
38,012,389 (GRCm39) |
missense |
probably benign |
0.10 |
R8512:Or10al3
|
UTSW |
17 |
38,012,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R9300:Or10al3
|
UTSW |
17 |
38,011,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R9760:Or10al3
|
UTSW |
17 |
38,012,434 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Or10al3
|
UTSW |
17 |
38,011,944 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Posted On |
2016-08-02 |