Incidental Mutation 'IGL01598:Or5b102'
| ID |
91730 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5b102
|
| Ensembl Gene |
ENSMUSG00000094986 |
| Gene Name |
olfactory receptor family 5 subfamily B member 102 |
| Synonyms |
MOR202-14, GA_x6K02T2RE5P-3390804-3391727, Olfr1454 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL01598
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
13040777-13041700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13041513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 246
(V246A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073732]
[ENSMUST00000213806]
[ENSMUST00000214695]
[ENSMUST00000217568]
|
| AlphaFold |
Q8VFW2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073732
AA Change: V246A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073409
Gene: ENSMUSG00000094986
AA Change: V246A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
1.1e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
2.7e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208608
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213806
AA Change: V246A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214695
AA Change: V246A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217568
AA Change: V246A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410124H12Rik |
T |
A |
16: 92,275,817 (GRCm39) |
|
noncoding transcript |
Het |
| Apc2 |
T |
A |
10: 80,148,882 (GRCm39) |
L1283Q |
probably damaging |
Het |
| Apol6 |
G |
A |
15: 76,934,916 (GRCm39) |
A62T |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,212,110 (GRCm39) |
I204N |
possibly damaging |
Het |
| B4galnt4 |
G |
T |
7: 140,650,428 (GRCm39) |
R765L |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,415,156 (GRCm39) |
T993A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,522,202 (GRCm38) |
|
probably null |
Het |
| Ccdc177 |
A |
G |
12: 80,805,519 (GRCm39) |
S252P |
unknown |
Het |
| Cdc73 |
A |
G |
1: 143,575,017 (GRCm39) |
S59P |
probably damaging |
Het |
| Cep63 |
G |
T |
9: 102,467,657 (GRCm39) |
Q570K |
possibly damaging |
Het |
| Ces1c |
A |
T |
8: 93,845,041 (GRCm39) |
I120K |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,011,549 (GRCm39) |
M131V |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,624,562 (GRCm39) |
V3701I |
probably damaging |
Het |
| Fxr1 |
T |
C |
3: 34,118,381 (GRCm39) |
S535P |
possibly damaging |
Het |
| Gldc |
A |
T |
19: 30,111,156 (GRCm39) |
V540D |
probably damaging |
Het |
| Iqcf6 |
A |
G |
9: 106,504,707 (GRCm39) |
T124A |
probably benign |
Het |
| Itih4 |
A |
G |
14: 30,609,774 (GRCm39) |
I35V |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,478,664 (GRCm39) |
*1525W |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,559,769 (GRCm39) |
V963E |
probably damaging |
Het |
| Lmnb2 |
T |
C |
10: 80,742,999 (GRCm39) |
S202G |
probably benign |
Het |
| Med23 |
T |
G |
10: 24,779,696 (GRCm39) |
S924R |
probably benign |
Het |
| Pcif1 |
T |
C |
2: 164,728,531 (GRCm39) |
F263L |
possibly damaging |
Het |
| Pon2 |
A |
T |
6: 5,272,331 (GRCm39) |
L163H |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,132,829 (GRCm39) |
V165M |
possibly damaging |
Het |
| Sema6d |
C |
A |
2: 124,507,018 (GRCm39) |
P961Q |
probably damaging |
Het |
| Snx27 |
A |
G |
3: 94,469,150 (GRCm39) |
Y64H |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,717,672 (GRCm39) |
|
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,462,510 (GRCm39) |
V193A |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,408,017 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,743,471 (GRCm39) |
T4137A |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,283 (GRCm39) |
Y251C |
probably damaging |
Het |
|
| Other mutations in Or5b102 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02942:Or5b102
|
APN |
19 |
13,041,552 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL03331:Or5b102
|
APN |
19 |
13,041,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Or5b102
|
UTSW |
19 |
13,041,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0738:Or5b102
|
UTSW |
19 |
13,041,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Or5b102
|
UTSW |
19 |
13,041,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Or5b102
|
UTSW |
19 |
13,041,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2092:Or5b102
|
UTSW |
19 |
13,041,166 (GRCm39) |
nonsense |
probably null |
|
|
R2656:Or5b102
|
UTSW |
19 |
13,041,348 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2850:Or5b102
|
UTSW |
19 |
13,040,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4212:Or5b102
|
UTSW |
19 |
13,041,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5303:Or5b102
|
UTSW |
19 |
13,041,139 (GRCm39) |
nonsense |
probably null |
|
|
R6362:Or5b102
|
UTSW |
19 |
13,040,709 (GRCm39) |
start gained |
probably benign |
|
|
R6928:Or5b102
|
UTSW |
19 |
13,041,348 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7183:Or5b102
|
UTSW |
19 |
13,041,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7701:Or5b102
|
UTSW |
19 |
13,041,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7741:Or5b102
|
UTSW |
19 |
13,041,423 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8057:Or5b102
|
UTSW |
19 |
13,040,638 (GRCm39) |
start gained |
probably benign |
|
|
R8272:Or5b102
|
UTSW |
19 |
13,040,795 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8534:Or5b102
|
UTSW |
19 |
13,041,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8769:Or5b102
|
UTSW |
19 |
13,041,307 (GRCm39) |
nonsense |
probably null |
|
|
R9400:Or5b102
|
UTSW |
19 |
13,041,139 (GRCm39) |
nonsense |
probably null |
|
|
R9511:Or5b102
|
UTSW |
19 |
13,041,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9651:Or5b102
|
UTSW |
19 |
13,041,256 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Or5b102
|
UTSW |
19 |
13,041,010 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Posted On |
2013-12-09 |
Incidental Mutation