Incidental Mutation 'IGL01385:Or10ak16'
ID |
79002 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or10ak16
|
Ensembl Gene |
ENSMUSG00000073768 |
Gene Name |
olfactory receptor family 10 subfamily AK member 16 |
Synonyms |
Olfr1330, MOR259-8, GA_x6K02T2QD9B-18644371-18643424 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
IGL01385
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
118750282-118751229 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118750748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 156
(L156S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101968
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094830]
[ENSMUST00000105035]
[ENSMUST00000106361]
|
AlphaFold |
Q8VEY6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094830
AA Change: L156S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000092425 Gene: ENSMUSG00000073768 AA Change: L156S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
34 |
310 |
1.2e-53 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
38 |
308 |
1.4e-6 |
PFAM |
Pfam:7tm_1
|
44 |
293 |
1.6e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105035
AA Change: L156S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000100652 Gene: ENSMUSG00000073768 AA Change: L156S
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
38 |
307 |
6.4e-8 |
PFAM |
Pfam:7tm_1
|
44 |
293 |
2.9e-31 |
PFAM |
Pfam:7tm_4
|
142 |
286 |
6.7e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106361
AA Change: L156S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101968 Gene: ENSMUSG00000073768 AA Change: L156S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
33 |
309 |
6.1e-56 |
PFAM |
Pfam:7tm_1
|
43 |
292 |
3.9e-25 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215186
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216386
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
T |
19: 57,057,346 (GRCm39) |
S292R |
probably damaging |
Het |
Adamts19 |
A |
G |
18: 59,105,851 (GRCm39) |
T749A |
probably damaging |
Het |
Agap2 |
A |
T |
10: 126,923,865 (GRCm39) |
I747F |
unknown |
Het |
Arhgap35 |
T |
A |
7: 16,298,399 (GRCm39) |
N222I |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,125,256 (GRCm39) |
E1074G |
probably damaging |
Het |
Brd3 |
T |
C |
2: 27,354,101 (GRCm39) |
T4A |
possibly damaging |
Het |
Col6a6 |
A |
G |
9: 105,660,865 (GRCm39) |
S415P |
probably damaging |
Het |
Dennd2a |
A |
G |
6: 39,500,070 (GRCm39) |
V165A |
probably damaging |
Het |
Dnm1l |
T |
A |
16: 16,159,317 (GRCm39) |
E95V |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,817,995 (GRCm39) |
Y1609H |
possibly damaging |
Het |
Esm1 |
A |
C |
13: 113,353,216 (GRCm39) |
E166A |
possibly damaging |
Het |
F2rl2 |
A |
C |
13: 95,837,836 (GRCm39) |
I294L |
probably benign |
Het |
Gstt3 |
A |
G |
10: 75,610,822 (GRCm39) |
S187P |
probably benign |
Het |
Katna1 |
T |
C |
10: 7,628,574 (GRCm39) |
C268R |
probably damaging |
Het |
Mbd5 |
T |
A |
2: 49,140,233 (GRCm39) |
C66S |
possibly damaging |
Het |
Naa35 |
G |
A |
13: 59,748,880 (GRCm39) |
E167K |
probably damaging |
Het |
Osbpl2 |
A |
G |
2: 179,778,873 (GRCm39) |
N2S |
probably benign |
Het |
Parp6 |
T |
C |
9: 59,537,895 (GRCm39) |
|
probably benign |
Het |
Pcdhb5 |
T |
A |
18: 37,455,267 (GRCm39) |
V549E |
probably benign |
Het |
Pcnx4 |
T |
C |
12: 72,620,520 (GRCm39) |
L780P |
probably damaging |
Het |
Plcb3 |
A |
T |
19: 6,935,276 (GRCm39) |
D851E |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,749,560 (GRCm39) |
S1149G |
probably damaging |
Het |
Prkca |
A |
G |
11: 107,869,178 (GRCm39) |
V469A |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,756,410 (GRCm39) |
V3468D |
probably damaging |
Het |
Spmip3 |
G |
A |
1: 177,568,640 (GRCm39) |
G46R |
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,431,074 (GRCm39) |
V412A |
possibly damaging |
Het |
Vmn1r238 |
G |
T |
18: 3,122,770 (GRCm39) |
Q215K |
possibly damaging |
Het |
Wdr11 |
A |
G |
7: 129,209,637 (GRCm39) |
M482V |
probably benign |
Het |
Wdr72 |
T |
C |
9: 74,086,788 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,340,021 (GRCm39) |
L754P |
probably damaging |
Het |
Zmym6 |
G |
A |
4: 127,017,899 (GRCm39) |
G1135S |
probably benign |
Het |
|
Other mutations in Or10ak16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01642:Or10ak16
|
APN |
4 |
118,750,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R0402:Or10ak16
|
UTSW |
4 |
118,750,426 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0418:Or10ak16
|
UTSW |
4 |
118,750,448 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0646:Or10ak16
|
UTSW |
4 |
118,750,687 (GRCm39) |
missense |
probably damaging |
0.96 |
R1075:Or10ak16
|
UTSW |
4 |
118,750,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R1743:Or10ak16
|
UTSW |
4 |
118,750,723 (GRCm39) |
missense |
probably benign |
|
R1950:Or10ak16
|
UTSW |
4 |
118,750,537 (GRCm39) |
missense |
probably benign |
0.22 |
R2265:Or10ak16
|
UTSW |
4 |
118,751,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R2268:Or10ak16
|
UTSW |
4 |
118,751,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R2269:Or10ak16
|
UTSW |
4 |
118,751,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R4648:Or10ak16
|
UTSW |
4 |
118,751,147 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5635:Or10ak16
|
UTSW |
4 |
118,750,832 (GRCm39) |
missense |
probably benign |
0.31 |
R6881:Or10ak16
|
UTSW |
4 |
118,750,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R7351:Or10ak16
|
UTSW |
4 |
118,751,033 (GRCm39) |
missense |
probably benign |
0.05 |
R7412:Or10ak16
|
UTSW |
4 |
118,750,327 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8402:Or10ak16
|
UTSW |
4 |
118,750,716 (GRCm39) |
missense |
probably benign |
0.01 |
R9355:Or10ak16
|
UTSW |
4 |
118,750,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-11-05 |