Incidental Mutation 'R1193:Or5an9'
| ID |
100963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5an9
|
| Ensembl Gene |
ENSMUSG00000094133 |
| Gene Name |
olfactory receptor family 5 subfamily AN member 9 |
| Synonyms |
MOR214-5, Olfr1431, GA_x6K02T2RE5P-2573738-2574676 |
| MMRRC Submission |
039265-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R1193 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12186932-12187870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12187803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 291
(Y291F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072316]
[ENSMUST00000213759]
|
| AlphaFold |
Q8VF59 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072316
AA Change: Y291F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072158
Gene: ENSMUSG00000094133
AA Change: Y291F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
8.4e-56 |
PFAM |
|
Pfam:7tm_1
|
42 |
309 |
2.4e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213759
AA Change: Y291F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214138
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
A |
G |
3: 32,766,293 (GRCm39) |
D49G |
probably benign |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Gpm6a |
A |
T |
8: 55,500,268 (GRCm39) |
|
probably null |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nudt5 |
G |
A |
2: 5,868,411 (GRCm39) |
S103N |
probably benign |
Het |
| Or6z3 |
A |
G |
7: 6,463,715 (GRCm39) |
N69S |
probably benign |
Het |
| Pds5a |
G |
T |
5: 65,795,145 (GRCm39) |
A697E |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,510,242 (GRCm39) |
D806G |
probably damaging |
Het |
| Rars1 |
C |
T |
11: 35,700,153 (GRCm39) |
A548T |
possibly damaging |
Het |
| Rfk |
C |
T |
19: 17,372,685 (GRCm39) |
P69L |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sp4 |
C |
T |
12: 118,262,981 (GRCm39) |
R355H |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,647,895 (GRCm39) |
Y137H |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tmem150c |
T |
C |
5: 100,231,451 (GRCm39) |
T175A |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,996,229 (GRCm39) |
K221E |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,800,653 (GRCm39) |
K428E |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,739 (GRCm39) |
Y108* |
probably null |
Het |
| Wwox |
G |
A |
8: 115,406,614 (GRCm39) |
V202M |
probably benign |
Het |
|
| Other mutations in Or5an9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01330:Or5an9
|
APN |
19 |
12,187,404 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02206:Or5an9
|
APN |
19 |
12,187,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Or5an9
|
APN |
19 |
12,187,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4812001:Or5an9
|
UTSW |
19 |
12,187,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0402:Or5an9
|
UTSW |
19 |
12,186,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0661:Or5an9
|
UTSW |
19 |
12,187,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1483:Or5an9
|
UTSW |
19 |
12,187,114 (GRCm39) |
nonsense |
probably null |
|
|
R4091:Or5an9
|
UTSW |
19 |
12,187,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4280:Or5an9
|
UTSW |
19 |
12,187,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5028:Or5an9
|
UTSW |
19 |
12,187,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5540:Or5an9
|
UTSW |
19 |
12,187,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6042:Or5an9
|
UTSW |
19 |
12,187,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6045:Or5an9
|
UTSW |
19 |
12,187,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7104:Or5an9
|
UTSW |
19 |
12,187,242 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9068:Or5an9
|
UTSW |
19 |
12,187,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9165:Or5an9
|
UTSW |
19 |
12,187,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Or5an9
|
UTSW |
19 |
12,187,854 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCACTTCAGCTAAAGGCAGGTCC -3'
(R):5'- ACAGGTTCAGGCTTCCACAACTTTC -3'
Sequencing Primer
(F):5'- CTAAAGGCAGGTCCAAGGC -3'
(R):5'- CGATGACATCAAATCCATTGTTGG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation