Incidental Mutation 'IGL03018:Or5t16'
| ID |
407961 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5t16
|
| Ensembl Gene |
ENSMUSG00000075167 |
| Gene Name |
olfactory receptor family 5 subfamily T member 16 |
| Synonyms |
GA_x6K02T2Q125-48475870-48474938, MOR179-3, Olfr1101 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
IGL03018
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
86818586-86819518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 86819349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 57
(Y57S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099870]
[ENSMUST00000214411]
|
| AlphaFold |
Q7TR59 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099870
AA Change: Y57S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097455
Gene: ENSMUSG00000075167
AA Change: Y57S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
305 |
1.7e-51 |
PFAM |
|
Pfam:7tm_1
|
38 |
287 |
5.1e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214411
AA Change: Y57S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,752,451 (GRCm39) |
V474E |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,203,861 (GRCm39) |
D30E |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,129,031 (GRCm39) |
F394S |
probably damaging |
Het |
| Edem1 |
T |
C |
6: 108,806,103 (GRCm39) |
F135L |
probably damaging |
Het |
| Elf3 |
C |
T |
1: 135,183,803 (GRCm39) |
E239K |
possibly damaging |
Het |
| Farp1 |
C |
T |
14: 121,339,581 (GRCm39) |
A53V |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,834,717 (GRCm39) |
L400Q |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,318,189 (GRCm39) |
I109F |
possibly damaging |
Het |
| Lat2 |
A |
T |
5: 134,631,445 (GRCm39) |
I191N |
probably damaging |
Het |
| Mtf1 |
G |
A |
4: 124,732,456 (GRCm39) |
A505T |
probably benign |
Het |
| Naa30 |
G |
T |
14: 49,410,697 (GRCm39) |
E208D |
probably benign |
Het |
| Nlrp5 |
T |
C |
7: 23,117,172 (GRCm39) |
Y299H |
probably benign |
Het |
| Npc1 |
T |
A |
18: 12,347,436 (GRCm39) |
N195Y |
probably damaging |
Het |
| Or2f1 |
A |
G |
6: 42,721,748 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,277,163 (GRCm39) |
N40D |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,523 (GRCm39) |
M300T |
probably benign |
Het |
| Or7g19 |
A |
T |
9: 18,856,177 (GRCm39) |
I78F |
probably damaging |
Het |
| Pate12 |
A |
G |
9: 36,344,723 (GRCm39) |
T84A |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 93,253,012 (GRCm39) |
A1217V |
probably null |
Het |
| Pdhb |
C |
T |
14: 8,171,537 (GRCm38) |
|
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,865,993 (GRCm39) |
Y75H |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,175,563 (GRCm39) |
S748P |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,788,789 (GRCm39) |
V521A |
probably damaging |
Het |
| Samd7 |
A |
G |
3: 30,816,294 (GRCm39) |
K347E |
probably damaging |
Het |
| Selenom |
A |
G |
11: 3,466,508 (GRCm39) |
D63G |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,501,520 (GRCm39) |
V487A |
possibly damaging |
Het |
| Tapt1 |
A |
T |
5: 44,361,666 (GRCm39) |
M109K |
probably damaging |
Het |
| Trib1 |
T |
C |
15: 59,526,333 (GRCm39) |
F301S |
probably damaging |
Het |
| Tspyl1 |
T |
C |
10: 34,159,112 (GRCm39) |
V279A |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,264,972 (GRCm39) |
V1184I |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,044 (GRCm39) |
I526V |
probably benign |
Het |
| Vtcn1 |
A |
G |
3: 100,791,226 (GRCm39) |
D88G |
probably damaging |
Het |
| Yod1 |
T |
G |
1: 130,646,695 (GRCm39) |
L191V |
probably benign |
Het |
|
| Other mutations in Or5t16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01288:Or5t16
|
APN |
2 |
86,818,598 (GRCm39) |
missense |
probably benign |
|
|
IGL03265:Or5t16
|
APN |
2 |
86,819,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Or5t16
|
UTSW |
2 |
86,819,358 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2871:Or5t16
|
UTSW |
2 |
86,819,192 (GRCm39) |
nonsense |
probably null |
|
|
R2871:Or5t16
|
UTSW |
2 |
86,819,192 (GRCm39) |
nonsense |
probably null |
|
|
R7012:Or5t16
|
UTSW |
2 |
86,819,051 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7144:Or5t16
|
UTSW |
2 |
86,819,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Or5t16
|
UTSW |
2 |
86,819,385 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7521:Or5t16
|
UTSW |
2 |
86,818,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Or5t16
|
UTSW |
2 |
86,818,663 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7725:Or5t16
|
UTSW |
2 |
86,819,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7863:Or5t16
|
UTSW |
2 |
86,819,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7965:Or5t16
|
UTSW |
2 |
86,818,707 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8447:Or5t16
|
UTSW |
2 |
86,818,885 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8500:Or5t16
|
UTSW |
2 |
86,818,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Or5t16
|
UTSW |
2 |
86,818,710 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9776:Or5t16
|
UTSW |
2 |
86,819,055 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation