Incidental Mutation 'R0108:Or10q1b'
| ID |
17383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10q1b
|
| Ensembl Gene |
ENSMUSG00000051156 |
| Gene Name |
olfactory receptor family 10 subfamily Q member 1B |
| Synonyms |
MOR266-8, Olfr1491, GA_x6K02T2RE5P-4037809-4038768 |
| MMRRC Submission |
038394-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0108 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
13682193-13683152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13683042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 284
(T284S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052737]
[ENSMUST00000214007]
[ENSMUST00000215493]
[ENSMUST00000216366]
[ENSMUST00000216377]
[ENSMUST00000216622]
|
| AlphaFold |
Q8VEZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052737
AA Change: T284S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057902
Gene: ENSMUSG00000051156
AA Change: T284S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
314 |
3.3e-52 |
PFAM |
|
Pfam:7tm_1
|
45 |
295 |
5.9e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214007
AA Change: T284S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215493
AA Change: T284S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216366
AA Change: T284S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216377
AA Change: T284S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216622
AA Change: T284S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 87.1%
- 3x: 81.7%
- 10x: 58.7%
- 20x: 25.7%
|
| Validation Efficiency |
90% (92/102) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,224,692 (GRCm39) |
N910K |
probably benign |
Het |
| Ackr4 |
T |
A |
9: 103,976,387 (GRCm39) |
I187F |
probably benign |
Het |
| Adamts12 |
T |
C |
15: 11,311,184 (GRCm39) |
V1147A |
probably benign |
Het |
| Adcy2 |
A |
T |
13: 68,800,054 (GRCm39) |
V858E |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,726,523 (GRCm39) |
|
probably benign |
Het |
| Atg4c |
C |
T |
4: 99,109,677 (GRCm39) |
H215Y |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,453,463 (GRCm39) |
S337T |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,111,702 (GRCm39) |
E1996G |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,767,887 (GRCm39) |
T903A |
probably benign |
Het |
| Frem2 |
G |
T |
3: 53,555,382 (GRCm39) |
D1718E |
probably benign |
Het |
| Gatad2b |
T |
A |
3: 90,265,250 (GRCm39) |
Y576N |
probably damaging |
Het |
| Gm136 |
G |
T |
4: 34,746,593 (GRCm39) |
H139Q |
possibly damaging |
Het |
| Helq |
C |
A |
5: 100,916,234 (GRCm39) |
E913* |
probably null |
Het |
| Itgb7 |
C |
T |
15: 102,131,917 (GRCm39) |
R222H |
probably damaging |
Het |
| Lmtk2 |
C |
T |
5: 144,111,103 (GRCm39) |
R608C |
possibly damaging |
Het |
| Lonp2 |
G |
A |
8: 87,442,983 (GRCm39) |
V815I |
probably benign |
Het |
| Mpdz |
C |
T |
4: 81,300,042 (GRCm39) |
V319I |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,759,071 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,096,882 (GRCm39) |
T1364A |
probably damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,131,809 (GRCm39) |
W293R |
probably benign |
Het |
| Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
| Plekho2 |
A |
T |
9: 65,466,705 (GRCm39) |
D128E |
probably damaging |
Het |
| Pstpip1 |
A |
G |
9: 56,035,050 (GRCm39) |
E341G |
probably benign |
Het |
| Rps6ka2 |
G |
A |
17: 7,563,442 (GRCm39) |
D617N |
probably benign |
Het |
| Scin |
A |
G |
12: 40,177,986 (GRCm39) |
V83A |
possibly damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
| Sel1l3 |
C |
T |
5: 53,295,244 (GRCm39) |
A786T |
possibly damaging |
Het |
| Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
| Slc30a5 |
G |
T |
13: 100,939,908 (GRCm39) |
A669E |
probably damaging |
Het |
| Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
| Ttll4 |
G |
T |
1: 74,718,928 (GRCm39) |
V260L |
probably benign |
Het |
| Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
|
| Other mutations in Or10q1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Or10q1b
|
APN |
19 |
13,683,096 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02713:Or10q1b
|
APN |
19 |
13,682,553 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02822:Or10q1b
|
APN |
19 |
13,683,019 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0083:Or10q1b
|
UTSW |
19 |
13,683,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0271:Or10q1b
|
UTSW |
19 |
13,682,499 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1364:Or10q1b
|
UTSW |
19 |
13,682,809 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1538:Or10q1b
|
UTSW |
19 |
13,682,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1575:Or10q1b
|
UTSW |
19 |
13,682,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1579:Or10q1b
|
UTSW |
19 |
13,682,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2179:Or10q1b
|
UTSW |
19 |
13,682,758 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4393:Or10q1b
|
UTSW |
19 |
13,682,554 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5837:Or10q1b
|
UTSW |
19 |
13,682,324 (GRCm39) |
nonsense |
probably null |
|
|
R6001:Or10q1b
|
UTSW |
19 |
13,682,424 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8064:Or10q1b
|
UTSW |
19 |
13,682,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8132:Or10q1b
|
UTSW |
19 |
13,682,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8294:Or10q1b
|
UTSW |
19 |
13,683,010 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8380:Or10q1b
|
UTSW |
19 |
13,682,608 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9608:Or10q1b
|
UTSW |
19 |
13,682,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or10q1b
|
UTSW |
19 |
13,682,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-01-31 |
Incidental Mutation