Incidental Mutation 'R2892:Or6c217'
| ID |
260133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c217
|
| Ensembl Gene |
ENSMUSG00000061961 |
| Gene Name |
olfactory receptor family 6 subfamily C member 217 |
| Synonyms |
Olfr815, MOR113-3, GA_x6K02T2PULF-11581263-11580331 |
| MMRRC Submission |
040480-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R2892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
129737645-129738595 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129737809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 257
(Y257H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071557]
[ENSMUST00000205013]
[ENSMUST00000216182]
|
| AlphaFold |
Q8VFU0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071557
AA Change: Y263H
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000071488
Gene: ENSMUSG00000061961
AA Change: Y263H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
313 |
4.2e-45 |
PFAM |
|
Pfam:7tm_1
|
45 |
294 |
1.2e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205013
AA Change: Y257H
|
| SMART Domains |
Protein: ENSMUSP00000145482
Gene: ENSMUSG00000049052
AA Change: Y257H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
307 |
1.3e-44 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
4.1e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216182
AA Change: Y257H
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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 |
|---|
| Acox3 |
A |
G |
5: 35,751,661 (GRCm39) |
D232G |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Atp6v0a4 |
T |
C |
6: 38,029,952 (GRCm39) |
E704G |
probably benign |
Het |
| Bbx |
A |
G |
16: 50,045,104 (GRCm39) |
Y378H |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,735,770 (GRCm39) |
V574A |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,668,473 (GRCm39) |
V379A |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,182 (GRCm39) |
D55G |
probably benign |
Het |
| Dcun1d2 |
A |
T |
8: 13,328,649 (GRCm39) |
I86N |
probably damaging |
Het |
| Defa30 |
A |
T |
8: 21,624,679 (GRCm39) |
M1L |
probably damaging |
Het |
| Fzd8 |
G |
T |
18: 9,214,514 (GRCm39) |
G532V |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,933,894 (GRCm39) |
F717S |
possibly damaging |
Het |
| Gckr |
T |
C |
5: 31,483,816 (GRCm39) |
V563A |
probably benign |
Het |
| Ighv1-24 |
T |
G |
12: 114,736,679 (GRCm39) |
K74Q |
probably benign |
Het |
| Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
| Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
| Mmrn2 |
T |
G |
14: 34,118,587 (GRCm39) |
F158V |
probably benign |
Het |
| Mug1 |
G |
A |
6: 121,817,029 (GRCm39) |
V33M |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,341,648 (GRCm39) |
S136P |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,671,817 (GRCm39) |
N232S |
possibly damaging |
Het |
| Or7g27 |
A |
G |
9: 19,250,034 (GRCm39) |
T93A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,617,797 (GRCm39) |
S153P |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,170,767 (GRCm39) |
D633G |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Plrg1 |
C |
A |
3: 82,978,547 (GRCm39) |
Q438K |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,493,972 (GRCm39) |
Y215H |
probably damaging |
Het |
| Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,072,863 (GRCm39) |
Q1161* |
probably null |
Het |
| Snrnp200 |
T |
C |
2: 127,073,697 (GRCm39) |
L1365P |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,338,849 (GRCm39) |
T560A |
possibly damaging |
Het |
| Ttll2 |
T |
C |
17: 7,620,098 (GRCm39) |
|
probably null |
Het |
| Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Zfp82 |
G |
A |
7: 29,755,864 (GRCm39) |
T406I |
probably damaging |
Het |
|
| Other mutations in Or6c217 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Or6c217
|
APN |
10 |
129,738,528 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01901:Or6c217
|
APN |
10 |
129,737,722 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02687:Or6c217
|
APN |
10 |
129,737,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02932:Or6c217
|
APN |
10 |
129,738,287 (GRCm39) |
nonsense |
probably null |
|
|
IGL03327:Or6c217
|
APN |
10 |
129,738,451 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0894:Or6c217
|
UTSW |
10 |
129,737,751 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1299:Or6c217
|
UTSW |
10 |
129,737,946 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1544:Or6c217
|
UTSW |
10 |
129,738,293 (GRCm39) |
nonsense |
probably null |
|
|
R1939:Or6c217
|
UTSW |
10 |
129,737,970 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2379:Or6c217
|
UTSW |
10 |
129,737,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2435:Or6c217
|
UTSW |
10 |
129,738,173 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2566:Or6c217
|
UTSW |
10 |
129,737,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2905:Or6c217
|
UTSW |
10 |
129,738,269 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4552:Or6c217
|
UTSW |
10 |
129,737,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6566:Or6c217
|
UTSW |
10 |
129,737,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6988:Or6c217
|
UTSW |
10 |
129,738,278 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7671:Or6c217
|
UTSW |
10 |
129,738,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or6c217
|
UTSW |
10 |
129,738,552 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTCCTGGAGTACTTTTAGCCTG -3'
(R):5'- ATCTTAGCTCTCATGACACTCATTG -3'
Sequencing Primer
(F):5'- GGAGTACTTTTAGCCTGTTTAATACC -3'
(R):5'- ATGCTCACATTGCCAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation