Incidental Mutation 'IGL03066:Or6b2b'
| ID |
409687 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6b2b
|
| Ensembl Gene |
ENSMUSG00000057464 |
| Gene Name |
olfactory receptor family 6 subfamily B member 2B |
| Synonyms |
MOR103-12, GA_x6K02T2R7CC-81266841-81267776, Olfr1415 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
IGL03066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
92418540-92419475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92419305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 57
(R57S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071521]
[ENSMUST00000204009]
[ENSMUST00000204766]
|
| AlphaFold |
Q7TQS4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071521
AA Change: R57S
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000084047
Gene: ENSMUSG00000057464
AA Change: R57S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.3e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.2e-16 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204009
AA Change: R57S
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000145446
Gene: ENSMUSG00000057464
AA Change: R57S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.3e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.2e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204766
AA Change: R57S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144986
Gene: ENSMUSG00000057464
AA Change: R57S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
1 |
65 |
1e-7 |
BLAST |
|
| 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 |
|---|
| Brd4 |
A |
C |
17: 32,418,062 (GRCm39) |
|
probably benign |
Het |
| Cd209d |
C |
A |
8: 3,928,437 (GRCm39) |
|
probably null |
Het |
| Cela2a |
T |
A |
4: 141,548,765 (GRCm39) |
I124F |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,335,262 (GRCm39) |
N245K |
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,765,183 (GRCm39) |
F148L |
probably benign |
Het |
| Ctsj |
A |
C |
13: 61,152,302 (GRCm39) |
H21Q |
possibly damaging |
Het |
| Cul4a |
A |
G |
8: 13,183,776 (GRCm39) |
N388S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,418,553 (GRCm39) |
D147G |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,369,089 (GRCm39) |
T4287A |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,562,758 (GRCm39) |
C534F |
probably benign |
Het |
| Efcab14 |
A |
G |
4: 115,596,001 (GRCm39) |
E49G |
probably benign |
Het |
| Fancm |
G |
T |
12: 65,171,888 (GRCm39) |
E86* |
probably null |
Het |
| Galnt17 |
A |
T |
5: 130,929,486 (GRCm39) |
S440R |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Lctl |
T |
G |
9: 64,025,017 (GRCm39) |
M1R |
probably null |
Het |
| Llgl1 |
A |
G |
11: 60,596,860 (GRCm39) |
T154A |
possibly damaging |
Het |
| Mink1 |
G |
T |
11: 70,499,715 (GRCm39) |
V750F |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,549,595 (GRCm39) |
V950A |
possibly damaging |
Het |
| Myg1 |
G |
A |
15: 102,242,801 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,778 (GRCm39) |
I172F |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,831,667 (GRCm39) |
H54R |
probably benign |
Het |
| Pask |
A |
T |
1: 93,258,588 (GRCm39) |
S253R |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,208 (GRCm39) |
H3253Q |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,971,523 (GRCm39) |
|
probably benign |
Het |
| Rnf169 |
G |
T |
7: 99,574,760 (GRCm39) |
R612S |
possibly damaging |
Het |
| Sclt1 |
A |
T |
3: 41,672,278 (GRCm39) |
D104E |
probably benign |
Het |
| Shh |
G |
T |
5: 28,666,369 (GRCm39) |
D172E |
probably damaging |
Het |
| Sil1 |
G |
T |
18: 35,402,259 (GRCm39) |
|
probably benign |
Het |
| Slc19a3 |
A |
G |
1: 82,992,557 (GRCm39) |
I388T |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,149,457 (GRCm39) |
Y946C |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,878,168 (GRCm39) |
I219F |
probably damaging |
Het |
| Tcf3 |
T |
C |
10: 80,248,879 (GRCm39) |
D529G |
probably damaging |
Het |
| Txnip |
G |
A |
3: 96,466,934 (GRCm39) |
E203K |
probably damaging |
Het |
| Ubc |
G |
T |
5: 125,465,327 (GRCm39) |
|
probably benign |
Het |
| Ubxn4 |
A |
T |
1: 128,188,591 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
C |
16: 87,268,721 (GRCm39) |
V284A |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,472,574 (GRCm39) |
N49I |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,339 (GRCm39) |
I292N |
probably damaging |
Het |
| Zfp128 |
A |
G |
7: 12,624,044 (GRCm39) |
I137M |
probably benign |
Het |
|
| Other mutations in Or6b2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0538:Or6b2b
|
UTSW |
1 |
92,419,055 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0924:Or6b2b
|
UTSW |
1 |
92,419,127 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0930:Or6b2b
|
UTSW |
1 |
92,419,127 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1025:Or6b2b
|
UTSW |
1 |
92,419,445 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1201:Or6b2b
|
UTSW |
1 |
92,418,875 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1413:Or6b2b
|
UTSW |
1 |
92,418,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1510:Or6b2b
|
UTSW |
1 |
92,419,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1846:Or6b2b
|
UTSW |
1 |
92,418,822 (GRCm39) |
nonsense |
probably null |
|
|
R1850:Or6b2b
|
UTSW |
1 |
92,419,124 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1940:Or6b2b
|
UTSW |
1 |
92,419,457 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2760:Or6b2b
|
UTSW |
1 |
92,418,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4066:Or6b2b
|
UTSW |
1 |
92,418,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Or6b2b
|
UTSW |
1 |
92,418,697 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5310:Or6b2b
|
UTSW |
1 |
92,418,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Or6b2b
|
UTSW |
1 |
92,418,918 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5748:Or6b2b
|
UTSW |
1 |
92,418,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5760:Or6b2b
|
UTSW |
1 |
92,418,922 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5853:Or6b2b
|
UTSW |
1 |
92,419,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5926:Or6b2b
|
UTSW |
1 |
92,419,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6199:Or6b2b
|
UTSW |
1 |
92,419,264 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7585:Or6b2b
|
UTSW |
1 |
92,419,042 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7627:Or6b2b
|
UTSW |
1 |
92,419,107 (GRCm39) |
nonsense |
probably null |
|
|
R7726:Or6b2b
|
UTSW |
1 |
92,419,029 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8011:Or6b2b
|
UTSW |
1 |
92,418,997 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8306:Or6b2b
|
UTSW |
1 |
92,419,247 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9142:Or6b2b
|
UTSW |
1 |
92,419,411 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation