Incidental Mutation 'IGL03399:Or1j16'
ID |
421339 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or1j16
|
Ensembl Gene |
ENSMUSG00000059251 |
Gene Name |
olfactory receptor family 1 subfamily J member 16 |
Synonyms |
Olfr345, MOR136-7, GA_x6K02T2NLDC-33334179-33335114 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL03399
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
36530053-36530988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 36530894 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 281
(V281G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076850]
|
AlphaFold |
Q8VGK4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076850
AA Change: V281G
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000076122 Gene: ENSMUSG00000059251 AA Change: V281G
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
308 |
8.6e-57 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
2.6e-22 |
PFAM |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss1 |
C |
T |
2: 150,479,798 (GRCm39) |
G303D |
probably damaging |
Het |
Adam6b |
A |
T |
12: 113,454,728 (GRCm39) |
Y515F |
probably damaging |
Het |
Birc2 |
A |
T |
9: 7,821,088 (GRCm39) |
L412Q |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,901,368 (GRCm39) |
I1144T |
probably benign |
Het |
Dip2b |
A |
T |
15: 100,073,208 (GRCm39) |
N770I |
possibly damaging |
Het |
Dmxl2 |
T |
C |
9: 54,353,956 (GRCm39) |
N671D |
probably damaging |
Het |
Dpyd |
A |
G |
3: 119,108,426 (GRCm39) |
D823G |
probably damaging |
Het |
Eif5 |
A |
G |
12: 111,511,024 (GRCm39) |
D367G |
probably damaging |
Het |
Exog |
T |
G |
9: 119,276,017 (GRCm39) |
S56A |
possibly damaging |
Het |
Hap1 |
C |
A |
11: 100,245,093 (GRCm39) |
M39I |
possibly damaging |
Het |
Hsd17b6 |
A |
T |
10: 127,829,625 (GRCm39) |
H192Q |
probably benign |
Het |
Insrr |
T |
A |
3: 87,716,638 (GRCm39) |
L622Q |
probably null |
Het |
Kars1 |
G |
T |
8: 112,734,926 (GRCm39) |
A20E |
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,431,771 (GRCm39) |
D197G |
probably damaging |
Het |
Mapk9 |
T |
A |
11: 49,774,126 (GRCm39) |
|
probably benign |
Het |
Naip1 |
A |
T |
13: 100,545,426 (GRCm39) |
D1367E |
probably damaging |
Het |
Oaz1 |
G |
A |
10: 80,664,176 (GRCm39) |
S84N |
probably benign |
Het |
Ofcc1 |
T |
C |
13: 40,296,314 (GRCm39) |
R507G |
possibly damaging |
Het |
Or5p6 |
A |
G |
7: 107,630,789 (GRCm39) |
F254L |
probably benign |
Het |
Or8g24 |
A |
T |
9: 38,989,533 (GRCm39) |
C169* |
probably null |
Het |
Pclo |
T |
A |
5: 14,816,745 (GRCm39) |
D4540E |
unknown |
Het |
Ppp6r1 |
A |
G |
7: 4,646,251 (GRCm39) |
V150A |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,861,658 (GRCm39) |
D544G |
probably benign |
Het |
Rab27b |
A |
G |
18: 70,120,067 (GRCm39) |
I128T |
possibly damaging |
Het |
Scart2 |
G |
A |
7: 139,827,869 (GRCm39) |
E26K |
probably benign |
Het |
Slc25a1 |
G |
T |
16: 17,743,684 (GRCm39) |
T195K |
probably damaging |
Het |
Tex10 |
T |
C |
4: 48,459,915 (GRCm39) |
N479D |
probably benign |
Het |
Thsd7b |
G |
T |
1: 129,556,622 (GRCm39) |
W326L |
probably damaging |
Het |
Tril |
T |
C |
6: 53,797,042 (GRCm39) |
D60G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,615,625 (GRCm39) |
R14984H |
probably damaging |
Het |
Uba2 |
G |
A |
7: 33,843,939 (GRCm39) |
T12I |
probably damaging |
Het |
Vmn2r107 |
T |
C |
17: 20,578,220 (GRCm39) |
|
probably benign |
Het |
Vti1a |
A |
G |
19: 55,487,703 (GRCm39) |
K183R |
probably benign |
Het |
Zkscan16 |
T |
C |
4: 58,956,915 (GRCm39) |
V399A |
probably benign |
Het |
|
Other mutations in Or1j16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03323:Or1j16
|
APN |
2 |
36,530,153 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1164:Or1j16
|
UTSW |
2 |
36,530,132 (GRCm39) |
missense |
probably benign |
|
R1878:Or1j16
|
UTSW |
2 |
36,530,201 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1879:Or1j16
|
UTSW |
2 |
36,530,201 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1954:Or1j16
|
UTSW |
2 |
36,530,227 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2206:Or1j16
|
UTSW |
2 |
36,530,201 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2207:Or1j16
|
UTSW |
2 |
36,530,201 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3773:Or1j16
|
UTSW |
2 |
36,530,333 (GRCm39) |
missense |
probably benign |
0.16 |
R4470:Or1j16
|
UTSW |
2 |
36,530,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R4583:Or1j16
|
UTSW |
2 |
36,530,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R4744:Or1j16
|
UTSW |
2 |
36,530,991 (GRCm39) |
splice site |
probably null |
|
R4897:Or1j16
|
UTSW |
2 |
36,530,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R5308:Or1j16
|
UTSW |
2 |
36,530,706 (GRCm39) |
nonsense |
probably null |
|
R5510:Or1j16
|
UTSW |
2 |
36,530,975 (GRCm39) |
missense |
probably benign |
|
R6175:Or1j16
|
UTSW |
2 |
36,530,063 (GRCm39) |
missense |
probably benign |
0.00 |
R7736:Or1j16
|
UTSW |
2 |
36,530,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R7737:Or1j16
|
UTSW |
2 |
36,530,632 (GRCm39) |
missense |
probably benign |
0.01 |
R9783:Or1j16
|
UTSW |
2 |
36,530,161 (GRCm39) |
missense |
probably benign |
0.44 |
|
Posted On |
2016-08-02 |