Incidental Mutation 'IGL01747:Or8k3b'
| ID |
153051 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8k3b
|
| Ensembl Gene |
ENSMUSG00000075174 |
| Gene Name |
olfactory receptor family 8 subfamily K member 3B |
| Synonyms |
Olfr1087, GA_x6K02T2Q125-48182406-48181465, MOR188-5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
IGL01747
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
86520376-86521317 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86521045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 91
(I91M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099877]
[ENSMUST00000214141]
|
| AlphaFold |
Q7TR63 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099877
AA Change: I91M
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097462
Gene: ENSMUSG00000075174
AA Change: I91M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
5.5e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.7e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214141
AA Change: I91M
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
G |
13: 54,704,338 (GRCm39) |
|
probably null |
Het |
| Abca14 |
A |
G |
7: 119,877,310 (GRCm39) |
N986S |
probably benign |
Het |
| Adamts17 |
G |
A |
7: 66,701,759 (GRCm39) |
G702D |
probably damaging |
Het |
| Aox3 |
G |
A |
1: 58,198,817 (GRCm39) |
V671M |
probably damaging |
Het |
| Asnsd1 |
A |
T |
1: 53,387,254 (GRCm39) |
Y124* |
probably null |
Het |
| Astn2 |
A |
T |
4: 65,712,855 (GRCm39) |
M595K |
probably benign |
Het |
| Col2a1 |
T |
C |
15: 97,889,273 (GRCm39) |
|
probably benign |
Het |
| Dhrs2 |
A |
T |
14: 55,472,120 (GRCm39) |
I4L |
probably benign |
Het |
| Fbxo4 |
A |
T |
15: 3,995,237 (GRCm39) |
L369* |
probably null |
Het |
| Gpbp1 |
G |
A |
13: 111,589,584 (GRCm39) |
R129C |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,750,697 (GRCm39) |
I2956L |
probably damaging |
Het |
| Myo16 |
C |
T |
8: 10,654,877 (GRCm39) |
T1843I |
probably damaging |
Het |
| Or1j14 |
T |
C |
2: 36,417,844 (GRCm39) |
L140P |
probably damaging |
Het |
| Pcdhb2 |
T |
G |
18: 37,429,356 (GRCm39) |
V86G |
probably damaging |
Het |
| Pskh1 |
T |
C |
8: 106,639,836 (GRCm39) |
M172T |
probably damaging |
Het |
| Slc38a10 |
T |
C |
11: 120,025,600 (GRCm39) |
|
probably benign |
Het |
| Spry2 |
C |
T |
14: 106,130,488 (GRCm39) |
D233N |
probably damaging |
Het |
| Tmem163 |
T |
A |
1: 127,596,457 (GRCm39) |
R84W |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,972,656 (GRCm39) |
I306V |
probably benign |
Het |
| Virma |
T |
C |
4: 11,526,877 (GRCm39) |
L1092P |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,702 (GRCm39) |
Y400C |
probably damaging |
Het |
|
| Other mutations in Or8k3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02300:Or8k3b
|
APN |
2 |
86,520,996 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03259:Or8k3b
|
APN |
2 |
86,520,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03404:Or8k3b
|
APN |
2 |
86,520,372 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1430:Or8k3b
|
UTSW |
2 |
86,520,866 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1513:Or8k3b
|
UTSW |
2 |
86,521,141 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1529:Or8k3b
|
UTSW |
2 |
86,520,677 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1767:Or8k3b
|
UTSW |
2 |
86,520,728 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1869:Or8k3b
|
UTSW |
2 |
86,520,735 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3056:Or8k3b
|
UTSW |
2 |
86,520,896 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5002:Or8k3b
|
UTSW |
2 |
86,520,429 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7303:Or8k3b
|
UTSW |
2 |
86,521,166 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8335:Or8k3b
|
UTSW |
2 |
86,520,512 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9042:Or8k3b
|
UTSW |
2 |
86,521,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9364:Or8k3b
|
UTSW |
2 |
86,520,575 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
X0063:Or8k3b
|
UTSW |
2 |
86,520,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-02-04 |
Incidental Mutation