Incidental Mutation 'R6486:Or8c11'
| ID |
517340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8c11
|
| Ensembl Gene |
ENSMUSG00000096757 |
| Gene Name |
olfactory receptor family 8 subfamily C member 11 |
| Synonyms |
GA_x6K02T2PVTD-32071567-32072508, Olfr900, GA_x6K02T2MYUG-9124-8183, MOR170-2, MOR170-13, MOR170-15, Olfr251 |
| MMRRC Submission |
044618-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R6486 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
38289179-38290129 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38289200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 2
(V2I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072731]
[ENSMUST00000214865]
|
| AlphaFold |
E9Q891 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072731
AA Change: V8I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072514
Gene: ENSMUSG00000096757
AA Change: V8I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
313 |
9.8e-50 |
PFAM |
|
Pfam:7tm_1
|
47 |
296 |
4.2e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214865
AA Change: V2I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (30/30) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1d |
T |
A |
14: 29,836,190 (GRCm39) |
M853L |
probably benign |
Het |
| Cacna2d1 |
C |
T |
5: 16,524,448 (GRCm39) |
|
probably null |
Het |
| Capg |
G |
T |
6: 72,534,733 (GRCm39) |
E187* |
probably null |
Het |
| Carns1 |
C |
T |
19: 4,219,979 (GRCm39) |
A419T |
probably benign |
Het |
| Cpt1b |
A |
G |
15: 89,305,027 (GRCm39) |
M407T |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 91,521,582 (GRCm39) |
|
probably null |
Het |
| Ep400 |
T |
C |
5: 110,845,084 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,360,186 (GRCm39) |
N704D |
probably damaging |
Het |
| Gga2 |
A |
G |
7: 121,601,411 (GRCm39) |
S231P |
probably damaging |
Het |
| Gpbp1l1 |
A |
G |
4: 116,438,572 (GRCm39) |
K223E |
probably damaging |
Het |
| Homer1 |
A |
T |
13: 93,528,233 (GRCm39) |
N78I |
possibly damaging |
Het |
| Lmbr1 |
C |
T |
5: 29,528,859 (GRCm39) |
V122M |
probably damaging |
Het |
| Mpeg1 |
C |
A |
19: 12,439,469 (GRCm39) |
A309E |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,755,648 (GRCm39) |
E1713G |
possibly damaging |
Het |
| Neto1 |
A |
G |
18: 86,479,371 (GRCm39) |
I186M |
probably benign |
Het |
| Nfasc |
T |
C |
1: 132,532,952 (GRCm39) |
D668G |
probably damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,247,927 (GRCm39) |
|
probably null |
Het |
| Or1j11 |
A |
T |
2: 36,311,556 (GRCm39) |
I49F |
probably damaging |
Het |
| Or5b124 |
T |
G |
19: 13,611,055 (GRCm39) |
N193K |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,570,628 (GRCm39) |
S2304P |
probably damaging |
Het |
| Sgsm3 |
T |
C |
15: 80,895,546 (GRCm39) |
I699T |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,671,067 (GRCm39) |
F551S |
probably damaging |
Het |
| Stra6 |
TC |
T |
9: 58,058,705 (GRCm39) |
|
probably null |
Het |
| Tlr3 |
T |
C |
8: 45,851,650 (GRCm39) |
|
probably null |
Het |
| Tnfrsf22 |
T |
C |
7: 143,194,493 (GRCm39) |
T145A |
possibly damaging |
Het |
| Trp63 |
A |
T |
16: 25,684,090 (GRCm39) |
T326S |
probably damaging |
Het |
| Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
| Vmn1r234 |
A |
T |
17: 21,449,604 (GRCm39) |
M173L |
probably benign |
Het |
| Vmn2r13 |
T |
G |
5: 109,304,425 (GRCm39) |
I669L |
probably benign |
Het |
| Vwa5a |
G |
A |
9: 38,645,174 (GRCm39) |
G420R |
probably null |
Het |
|
| Other mutations in Or8c11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02013:Or8c11
|
APN |
9 |
38,289,373 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02131:Or8c11
|
APN |
9 |
38,289,203 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02311:Or8c11
|
APN |
9 |
38,289,194 (GRCm39) |
nonsense |
probably null |
|
|
IGL02377:Or8c11
|
APN |
9 |
38,289,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0284:Or8c11
|
UTSW |
9 |
38,289,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0412:Or8c11
|
UTSW |
9 |
38,290,090 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0903:Or8c11
|
UTSW |
9 |
38,290,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1664:Or8c11
|
UTSW |
9 |
38,289,548 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2902:Or8c11
|
UTSW |
9 |
38,289,337 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3970:Or8c11
|
UTSW |
9 |
38,289,222 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4191:Or8c11
|
UTSW |
9 |
38,289,648 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4650:Or8c11
|
UTSW |
9 |
38,289,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Or8c11
|
UTSW |
9 |
38,290,038 (GRCm39) |
missense |
probably null |
0.98 |
|
R5256:Or8c11
|
UTSW |
9 |
38,289,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5385:Or8c11
|
UTSW |
9 |
38,289,281 (GRCm39) |
missense |
probably benign |
|
|
R5386:Or8c11
|
UTSW |
9 |
38,289,281 (GRCm39) |
missense |
probably benign |
|
|
R6005:Or8c11
|
UTSW |
9 |
38,289,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6268:Or8c11
|
UTSW |
9 |
38,289,384 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7019:Or8c11
|
UTSW |
9 |
38,290,098 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7045:Or8c11
|
UTSW |
9 |
38,289,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7120:Or8c11
|
UTSW |
9 |
38,289,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7329:Or8c11
|
UTSW |
9 |
38,289,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7703:Or8c11
|
UTSW |
9 |
38,289,357 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8333:Or8c11
|
UTSW |
9 |
38,289,912 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8352:Or8c11
|
UTSW |
9 |
38,289,647 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8452:Or8c11
|
UTSW |
9 |
38,289,647 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8461:Or8c11
|
UTSW |
9 |
38,289,777 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8870:Or8c11
|
UTSW |
9 |
38,289,720 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
|
| Posted On |
2018-05-21 |
Incidental Mutation