Incidental Mutation 'R2282:Or2y1c'
| ID |
243186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2y1c
|
| Ensembl Gene |
ENSMUSG00000108167 |
| Gene Name |
olfactory receptor family 2 subfamily Y member 1C |
| Synonyms |
GA_x6K02T2QP88-5964781-5963852, Olfr1386, MOR256-50 |
| MMRRC Submission |
040281-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R2282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
49360881-49362008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 49361470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 164
(M164R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071905]
[ENSMUST00000204518]
[ENSMUST00000213674]
|
| AlphaFold |
Q7TQT0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071905
AA Change: M164R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000071801
Gene: ENSMUSG00000108167
AA Change: M164R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
1.2e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
227 |
1.2e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
7.4e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204518
AA Change: M164R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145320
Gene: ENSMUSG00000108167
AA Change: M164R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
1.2e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
227 |
1.2e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
7.4e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213674
AA Change: M164R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
G |
18: 65,440,697 (GRCm39) |
L232P |
probably benign |
Het |
| Ap5b1 |
A |
T |
19: 5,619,665 (GRCm39) |
T362S |
possibly damaging |
Het |
| Ash2l |
A |
G |
8: 26,325,070 (GRCm39) |
M163T |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,056,073 (GRCm39) |
Y1029C |
probably damaging |
Het |
| Baz1a |
G |
T |
12: 54,963,597 (GRCm39) |
S829* |
probably null |
Het |
| Cd1d2 |
A |
G |
3: 86,894,558 (GRCm39) |
K109E |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,686,359 (GRCm39) |
F1309L |
unknown |
Het |
| Dnah5 |
A |
T |
15: 28,327,448 (GRCm39) |
E2055V |
probably damaging |
Het |
| Eif1ad8 |
A |
T |
12: 87,564,087 (GRCm39) |
I141F |
unknown |
Het |
| Epha5 |
A |
T |
5: 84,298,269 (GRCm39) |
I542N |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,815,791 (GRCm39) |
V1432D |
possibly damaging |
Het |
| Klf12 |
C |
T |
14: 100,137,581 (GRCm39) |
E322K |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Or1j11 |
G |
A |
2: 36,312,012 (GRCm39) |
V201I |
probably benign |
Het |
| Or4k5 |
A |
G |
14: 50,385,776 (GRCm39) |
V185A |
probably benign |
Het |
| Or8c16 |
A |
G |
9: 38,130,124 (GRCm39) |
M2V |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,571,452 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
C |
T |
15: 12,373,934 (GRCm39) |
G2067D |
possibly damaging |
Het |
| Rfx2 |
T |
C |
17: 57,110,722 (GRCm39) |
Y88C |
probably damaging |
Het |
| S100a1 |
A |
G |
3: 90,418,599 (GRCm39) |
F72L |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,252,705 (GRCm39) |
M164V |
probably benign |
Het |
| Snx5 |
T |
A |
2: 144,095,595 (GRCm39) |
E355D |
probably benign |
Het |
| Tmbim6 |
T |
C |
15: 99,302,407 (GRCm39) |
F93S |
probably damaging |
Het |
| Trp53bp1 |
G |
A |
2: 121,100,754 (GRCm39) |
Q77* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,629,882 (GRCm39) |
V14216A |
possibly damaging |
Het |
| Vmn2r68 |
C |
T |
7: 84,870,859 (GRCm39) |
C808Y |
possibly damaging |
Het |
| Wnt10b |
A |
G |
15: 98,672,102 (GRCm39) |
F205S |
probably damaging |
Het |
|
| Other mutations in Or2y1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01383:Or2y1c
|
APN |
11 |
49,361,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02698:Or2y1c
|
APN |
11 |
49,361,690 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02727:Or2y1c
|
APN |
11 |
49,361,893 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0826:Or2y1c
|
UTSW |
11 |
49,361,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Or2y1c
|
UTSW |
11 |
49,361,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1822:Or2y1c
|
UTSW |
11 |
49,361,795 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1942:Or2y1c
|
UTSW |
11 |
49,360,981 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R4646:Or2y1c
|
UTSW |
11 |
49,361,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4762:Or2y1c
|
UTSW |
11 |
49,361,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4892:Or2y1c
|
UTSW |
11 |
49,361,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4968:Or2y1c
|
UTSW |
11 |
49,361,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6882:Or2y1c
|
UTSW |
11 |
49,361,290 (GRCm39) |
missense |
probably benign |
|
|
R7107:Or2y1c
|
UTSW |
11 |
49,361,261 (GRCm39) |
nonsense |
probably null |
|
|
R7300:Or2y1c
|
UTSW |
11 |
49,361,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7308:Or2y1c
|
UTSW |
11 |
49,360,754 (GRCm39) |
start gained |
probably benign |
|
|
R8876:Or2y1c
|
UTSW |
11 |
49,361,386 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8901:Or2y1c
|
UTSW |
11 |
49,361,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9048:Or2y1c
|
UTSW |
11 |
49,361,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9641:Or2y1c
|
UTSW |
11 |
49,361,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTCTGGGATCCACTGAG -3'
(R):5'- CCAAAAGCTTTTCTGCGTCCAG -3'
Sequencing Primer
(F):5'- GATCCACTGAGTGTGTGCTCC -3'
(R):5'- GCGTCCAGCTGTTGACTTGAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation