Incidental Mutation 'IGL02713:Or10q1b'
| ID |
304636 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or10q1b
|
| Ensembl Gene |
ENSMUSG00000051156 |
| Gene Name |
olfactory receptor family 10 subfamily Q member 1B |
| Synonyms |
MOR266-8, Olfr1491, GA_x6K02T2RE5P-4037809-4038768 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02713
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
13682193-13683152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13682553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 121
(I121F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052737]
[ENSMUST00000214007]
[ENSMUST00000215493]
[ENSMUST00000216366]
[ENSMUST00000216377]
[ENSMUST00000216622]
|
| AlphaFold |
Q8VEZ5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052737
AA Change: I121F
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057902
Gene: ENSMUSG00000051156
AA Change: I121F
| 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 |
possibly damaging
Transcript: ENSMUST00000214007
AA Change: I121F
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215493
AA Change: I121F
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216366
AA Change: I121F
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216377
AA Change: I121F
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216622
AA Change: I121F
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,749,992 (GRCm39) |
T1588A |
possibly damaging |
Het |
| Apeh |
A |
T |
9: 107,962,871 (GRCm39) |
L700Q |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,393,286 (GRCm39) |
I2272T |
probably damaging |
Het |
| Best3 |
T |
G |
10: 116,860,434 (GRCm39) |
F565V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,319 (GRCm39) |
N521S |
probably benign |
Het |
| Cd209f |
T |
A |
8: 4,153,732 (GRCm39) |
R191S |
probably benign |
Het |
| Clec4e |
A |
T |
6: 123,263,263 (GRCm39) |
Y63* |
probably null |
Het |
| Cracdl |
C |
A |
1: 37,663,218 (GRCm39) |
K893N |
possibly damaging |
Het |
| Cyp26c1 |
C |
T |
19: 37,681,667 (GRCm39) |
T490M |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 25,872,945 (GRCm39) |
H29Q |
probably benign |
Het |
| Cyp2d10 |
A |
C |
15: 82,290,283 (GRCm39) |
|
probably benign |
Het |
| Dgat1 |
C |
A |
15: 76,387,734 (GRCm39) |
R291L |
probably damaging |
Het |
| Dyrk1a |
C |
A |
16: 94,486,204 (GRCm39) |
|
probably benign |
Het |
| Esp4 |
T |
C |
17: 40,913,297 (GRCm39) |
F55L |
probably benign |
Het |
| Fam227a |
G |
A |
15: 79,520,997 (GRCm39) |
|
probably benign |
Het |
| Ggt1 |
T |
C |
10: 75,410,178 (GRCm39) |
Y37H |
probably damaging |
Het |
| Grsf1 |
A |
T |
5: 88,820,589 (GRCm39) |
I64K |
probably damaging |
Het |
| Itga6 |
C |
T |
2: 71,647,057 (GRCm39) |
T89I |
possibly damaging |
Het |
| Jph2 |
T |
C |
2: 163,217,837 (GRCm39) |
T280A |
probably damaging |
Het |
| Lipm |
A |
G |
19: 34,078,570 (GRCm39) |
M1V |
probably null |
Het |
| Nbeal1 |
C |
T |
1: 60,274,396 (GRCm39) |
A513V |
possibly damaging |
Het |
| Or10a3 |
G |
A |
7: 108,480,060 (GRCm39) |
T251I |
probably damaging |
Het |
| Or10a48 |
A |
T |
7: 108,424,801 (GRCm39) |
M135K |
probably damaging |
Het |
| Or13a28 |
A |
T |
7: 140,217,829 (GRCm39) |
I72F |
probably damaging |
Het |
| Or5ak25 |
T |
A |
2: 85,268,981 (GRCm39) |
I174F |
probably damaging |
Het |
| Or8b101 |
C |
T |
9: 38,020,623 (GRCm39) |
P214S |
probably damaging |
Het |
| Orc6 |
A |
G |
8: 86,034,215 (GRCm39) |
E146G |
probably benign |
Het |
| Patl2 |
A |
G |
2: 121,956,328 (GRCm39) |
S179P |
probably benign |
Het |
| Pdzd8 |
C |
A |
19: 59,333,890 (GRCm39) |
G44C |
probably damaging |
Het |
| Phox2b |
A |
G |
5: 67,253,938 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3b |
T |
G |
11: 29,138,445 (GRCm39) |
H264Q |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,468,807 (GRCm39) |
I1409T |
possibly damaging |
Het |
| Pum1 |
T |
A |
4: 130,493,323 (GRCm39) |
I842N |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sgca |
T |
A |
11: 94,862,131 (GRCm39) |
N174Y |
probably damaging |
Het |
| Slc7a14 |
A |
T |
3: 31,311,912 (GRCm39) |
L36Q |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stard13 |
G |
A |
5: 150,965,651 (GRCm39) |
Q935* |
probably null |
Het |
| Suds3 |
C |
T |
5: 117,232,970 (GRCm39) |
|
probably null |
Het |
| Sv2b |
A |
T |
7: 74,773,911 (GRCm39) |
L520Q |
possibly damaging |
Het |
| Tmem26 |
T |
C |
10: 68,587,125 (GRCm39) |
F191S |
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 |
|
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 |
|
R0108: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 |
2015-04-16 |
Incidental Mutation