Incidental Mutation 'R4480:Or10g1'
| ID |
331444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10g1
|
| Ensembl Gene |
ENSMUSG00000063106 |
| Gene Name |
olfactory receptor family 10 subfamily G member 1 |
| Synonyms |
MOR223-6, GA_x6K02T2RJGY-583652-584608, Olfr1510 |
| MMRRC Submission |
041737-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4480 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
52647346-52648384 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 52647765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 188
(A188V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079459]
[ENSMUST00000215928]
|
| AlphaFold |
E9PZZ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079459
AA Change: A188V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078424
Gene: ENSMUSG00000063106
AA Change: A188V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
311 |
8.1e-50 |
PFAM |
|
Pfam:7tm_1
|
45 |
293 |
1.8e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206257
AA Change: A188V
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215928
AA Change: A188V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
95% (40/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,150,829 (GRCm39) |
F1135I |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,476,348 (GRCm39) |
F1490L |
probably damaging |
Het |
| Begain |
A |
G |
12: 109,000,049 (GRCm39) |
Y446H |
probably damaging |
Het |
| Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,792,853 (GRCm39) |
Q703R |
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,084,182 (GRCm39) |
T935M |
probably damaging |
Het |
| Eif2s2 |
T |
C |
2: 154,730,190 (GRCm39) |
T36A |
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,048,470 (GRCm39) |
Y555C |
probably damaging |
Het |
| Fpr2 |
C |
T |
17: 18,114,015 (GRCm39) |
T337I |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,337,986 (GRCm39) |
Q93L |
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,140,145 (GRCm39) |
V119A |
possibly damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,227,151 (GRCm39) |
I769V |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,797,838 (GRCm39) |
*193W |
probably null |
Het |
| Katna1 |
T |
C |
10: 7,614,594 (GRCm39) |
V32A |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,597,237 (GRCm39) |
I673V |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,212,141 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or2t48 |
G |
T |
11: 58,420,627 (GRCm39) |
P62T |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,453,805 (GRCm39) |
S62T |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,472,205 (GRCm39) |
V44A |
probably damaging |
Het |
| Psg18 |
C |
T |
7: 18,084,787 (GRCm39) |
S103N |
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,223 (GRCm39) |
E102G |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,733,404 (GRCm39) |
V804A |
possibly damaging |
Het |
| Rab35 |
C |
A |
5: 115,775,823 (GRCm39) |
S34* |
probably null |
Het |
| Slco6d1 |
T |
A |
1: 98,435,299 (GRCm39) |
Y671* |
probably null |
Het |
| Sostdc1 |
A |
G |
12: 36,367,165 (GRCm39) |
I114V |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,284,529 (GRCm39) |
F852S |
possibly damaging |
Het |
| Tmem179 |
T |
C |
12: 112,469,737 (GRCm39) |
E21G |
probably benign |
Het |
| Usp17la |
T |
A |
7: 104,509,897 (GRCm39) |
H167Q |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,117,999 (GRCm39) |
|
probably null |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp985 |
A |
G |
4: 147,668,536 (GRCm39) |
D468G |
probably benign |
Het |
|
| Other mutations in Or10g1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01564:Or10g1
|
APN |
14 |
52,648,299 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02097:Or10g1
|
APN |
14 |
52,647,511 (GRCm39) |
missense |
probably benign |
|
|
R0282:Or10g1
|
UTSW |
14 |
52,647,720 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1449:Or10g1
|
UTSW |
14 |
52,648,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Or10g1
|
UTSW |
14 |
52,647,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Or10g1
|
UTSW |
14 |
52,648,318 (GRCm39) |
missense |
probably benign |
|
|
R2870:Or10g1
|
UTSW |
14 |
52,648,318 (GRCm39) |
missense |
probably benign |
|
|
R2872:Or10g1
|
UTSW |
14 |
52,648,318 (GRCm39) |
missense |
probably benign |
|
|
R2872:Or10g1
|
UTSW |
14 |
52,648,318 (GRCm39) |
missense |
probably benign |
|
|
R2873:Or10g1
|
UTSW |
14 |
52,648,318 (GRCm39) |
missense |
probably benign |
|
|
R3409:Or10g1
|
UTSW |
14 |
52,647,818 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3411:Or10g1
|
UTSW |
14 |
52,647,818 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5292:Or10g1
|
UTSW |
14 |
52,647,902 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5297:Or10g1
|
UTSW |
14 |
52,647,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5441:Or10g1
|
UTSW |
14 |
52,647,414 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5749:Or10g1
|
UTSW |
14 |
52,647,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Or10g1
|
UTSW |
14 |
52,648,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Or10g1
|
UTSW |
14 |
52,647,525 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7209:Or10g1
|
UTSW |
14 |
52,647,550 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7379:Or10g1
|
UTSW |
14 |
52,647,718 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7463:Or10g1
|
UTSW |
14 |
52,648,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7692:Or10g1
|
UTSW |
14 |
52,647,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8894:Or10g1
|
UTSW |
14 |
52,647,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9286:Or10g1
|
UTSW |
14 |
52,648,075 (GRCm39) |
nonsense |
probably null |
|
|
R9394:Or10g1
|
UTSW |
14 |
52,647,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGTGACCACAGTGAGATG -3'
(R):5'- TCTACACTTTGATGGCCTATGACAG -3'
Sequencing Primer
(F):5'- CCACAGTGAGATGGGAGCCAC -3'
(R):5'- ACAATCCTAGTGGCTGGA -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation