Incidental Mutation 'R4892:Or2y1c'
ID |
377353 |
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 |
042497-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.299)
|
Stock # |
R4892 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
49360881-49362008 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 49361043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 22
(Q22K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150448
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071905]
[ENSMUST00000204518]
[ENSMUST00000213674]
|
AlphaFold |
Q7TQT0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071905
AA Change: Q22K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000071801 Gene: ENSMUSG00000108167 AA Change: Q22K
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 benign
Transcript: ENSMUST00000204518
AA Change: Q22K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000145320 Gene: ENSMUSG00000108167 AA Change: Q22K
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 benign
Transcript: ENSMUST00000213674
AA Change: Q22K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
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 |
Abcc12 |
T |
C |
8: 87,236,431 (GRCm39) |
T1128A |
probably benign |
Het |
Apol11a |
A |
T |
15: 77,401,190 (GRCm39) |
K226* |
probably null |
Het |
Atp4a |
A |
G |
7: 30,411,899 (GRCm39) |
M45V |
probably benign |
Het |
Babam1 |
T |
A |
8: 71,855,696 (GRCm39) |
M263K |
probably benign |
Het |
Capn11 |
GACA |
GA |
17: 45,944,023 (GRCm39) |
|
probably null |
Het |
Ccdc190 |
C |
A |
1: 169,757,678 (GRCm39) |
L46I |
possibly damaging |
Het |
Cep131 |
C |
T |
11: 119,958,883 (GRCm39) |
R717H |
probably damaging |
Het |
Cpt1c |
A |
G |
7: 44,609,012 (GRCm39) |
F770L |
probably benign |
Het |
Dhx30 |
A |
T |
9: 109,914,924 (GRCm39) |
|
probably null |
Het |
Dido1 |
G |
A |
2: 180,316,822 (GRCm39) |
Q662* |
probably null |
Het |
Dip2a |
T |
C |
10: 76,116,593 (GRCm39) |
E910G |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Fmo3 |
T |
A |
1: 162,796,300 (GRCm39) |
I91F |
probably benign |
Het |
Gdap1 |
A |
C |
1: 17,230,218 (GRCm39) |
D217A |
possibly damaging |
Het |
Grm1 |
T |
C |
10: 10,595,331 (GRCm39) |
S766G |
possibly damaging |
Het |
Kat8 |
T |
A |
7: 127,514,710 (GRCm39) |
I123N |
possibly damaging |
Het |
Kcnt2 |
C |
A |
1: 140,440,763 (GRCm39) |
S23* |
probably null |
Het |
Krt73 |
G |
A |
15: 101,704,244 (GRCm39) |
T432I |
probably damaging |
Het |
Lgals9 |
T |
A |
11: 78,856,909 (GRCm39) |
I223L |
probably benign |
Het |
Mpo |
T |
A |
11: 87,693,507 (GRCm39) |
N48K |
probably benign |
Het |
Myo9a |
T |
G |
9: 59,731,525 (GRCm39) |
H632Q |
probably damaging |
Het |
Or9s27 |
A |
G |
1: 92,516,643 (GRCm39) |
N197S |
probably benign |
Het |
Prelid2 |
A |
G |
18: 42,084,209 (GRCm39) |
F11S |
possibly damaging |
Het |
Setd1a |
G |
T |
7: 127,377,696 (GRCm39) |
V57L |
probably damaging |
Het |
Sgip1 |
A |
G |
4: 102,823,431 (GRCm39) |
D704G |
probably damaging |
Het |
Spryd3 |
T |
C |
15: 102,026,537 (GRCm39) |
E378G |
probably benign |
Het |
Stk17b |
A |
T |
1: 53,810,770 (GRCm39) |
Y112N |
probably damaging |
Het |
Syndig1 |
A |
T |
2: 149,741,811 (GRCm39) |
K132N |
probably damaging |
Het |
Tcf20 |
C |
T |
15: 82,738,400 (GRCm39) |
R1017Q |
possibly damaging |
Het |
Tenm3 |
T |
A |
8: 48,729,896 (GRCm39) |
D1370V |
probably damaging |
Het |
Tnrc6a |
C |
T |
7: 122,769,134 (GRCm39) |
T308I |
probably damaging |
Het |
Ttc29 |
T |
C |
8: 79,060,274 (GRCm39) |
V398A |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,155,828 (GRCm39) |
T2218A |
probably benign |
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 |
R2282:Or2y1c
|
UTSW |
11 |
49,361,470 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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'- ATTCAACAGATGTAGCTGAGCAG -3'
(R):5'- GGTCCTGTCTTGTCCATAGAGG -3'
Sequencing Primer
(F):5'- CTGAGCAGCAACATGGAAATC -3'
(R):5'- CTTGTCCATAGAGGTTGATGAGGAGC -3'
|
Posted On |
2016-03-17 |