Incidental Mutation 'IGL02748:Or6b3'
| ID |
306150 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6b3
|
| Ensembl Gene |
ENSMUSG00000042849 |
| Gene Name |
olfactory receptor family 6 subfamily B member 3 |
| Synonyms |
MOR103-2, GA_x6K02T2R7CC-81245243-81246181, Olfr1414 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL02748
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
92438770-92446237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92439189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 187
(L187P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062353]
[ENSMUST00000189174]
|
| AlphaFold |
Q8VGU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062353
AA Change: L187P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054752
Gene: ENSMUSG00000042849
AA Change: L187P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
4.7e-52 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
5.7e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188197
AA Change: L187P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139693
Gene: ENSMUSG00000042849
AA Change: L187P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
41 |
233 |
1.6e-23 |
PFAM |
|
Pfam:7tm_4
|
139 |
234 |
1.1e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189174
AA Change: L187P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140956
Gene: ENSMUSG00000042849
AA Change: L187P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
41 |
290 |
4.2e-25 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
4.3e-42 |
PFAM |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baiap2l1 |
T |
A |
5: 144,203,415 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,553,271 (GRCm39) |
N397S |
possibly damaging |
Het |
| Crlf3 |
A |
G |
11: 79,950,145 (GRCm39) |
S162P |
probably damaging |
Het |
| Dctn2 |
C |
T |
10: 127,113,142 (GRCm39) |
R231C |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,421,589 (GRCm39) |
|
probably benign |
Het |
| Efcab12 |
T |
A |
6: 115,797,063 (GRCm39) |
T364S |
probably damaging |
Het |
| Eps8l3 |
A |
G |
3: 107,786,684 (GRCm39) |
|
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,535,173 (GRCm39) |
L92P |
probably damaging |
Het |
| Fbxw15 |
A |
G |
9: 109,387,278 (GRCm39) |
I239T |
possibly damaging |
Het |
| Fndc4 |
T |
C |
5: 31,452,130 (GRCm39) |
T96A |
possibly damaging |
Het |
| Gcn1 |
G |
A |
5: 115,748,859 (GRCm39) |
|
probably null |
Het |
| Ifna13 |
A |
G |
4: 88,562,097 (GRCm39) |
S176P |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,903,728 (GRCm39) |
H56R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,592,761 (GRCm39) |
D3786G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,337,082 (GRCm39) |
V1339E |
probably damaging |
Het |
| Mthfd1l |
T |
C |
10: 3,968,587 (GRCm39) |
V414A |
possibly damaging |
Het |
| Mthfd1l |
T |
G |
10: 3,930,268 (GRCm39) |
|
probably null |
Het |
| Or10ag56 |
T |
A |
2: 87,140,009 (GRCm39) |
L312Q |
probably damaging |
Het |
| Or5an1c |
A |
G |
19: 12,218,204 (GRCm39) |
F274L |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,273 (GRCm39) |
S502P |
probably damaging |
Het |
| Pde5a |
T |
A |
3: 122,554,541 (GRCm39) |
N242K |
probably damaging |
Het |
| Pik3cb |
A |
T |
9: 98,945,021 (GRCm39) |
|
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,198 (GRCm39) |
M729V |
probably damaging |
Het |
| Rai14 |
A |
G |
15: 10,589,421 (GRCm39) |
V259A |
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,616,418 (GRCm39) |
I298V |
possibly damaging |
Het |
| Senp7 |
C |
T |
16: 56,006,457 (GRCm39) |
T927M |
probably damaging |
Het |
| Snx27 |
A |
T |
3: 94,410,872 (GRCm39) |
I426N |
probably benign |
Het |
| Syce1l |
A |
T |
8: 114,382,097 (GRCm39) |
|
probably benign |
Het |
| Tmem18 |
T |
C |
12: 30,638,744 (GRCm39) |
*141Q |
probably null |
Het |
| Tnrc6c |
T |
C |
11: 117,622,996 (GRCm39) |
S1006P |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,653,157 (GRCm39) |
T308A |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,793,057 (GRCm39) |
C795S |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,096,010 (GRCm39) |
S143P |
probably benign |
Het |
|
| Other mutations in Or6b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01415:Or6b3
|
APN |
1 |
92,438,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01951:Or6b3
|
APN |
1 |
92,438,853 (GRCm39) |
missense |
probably null |
0.00 |
|
R1451:Or6b3
|
UTSW |
1 |
92,439,517 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1926:Or6b3
|
UTSW |
1 |
92,439,330 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1978:Or6b3
|
UTSW |
1 |
92,439,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Or6b3
|
UTSW |
1 |
92,439,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Or6b3
|
UTSW |
1 |
92,438,812 (GRCm39) |
makesense |
probably null |
|
|
R7205:Or6b3
|
UTSW |
1 |
92,439,573 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7258:Or6b3
|
UTSW |
1 |
92,438,898 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7366:Or6b3
|
UTSW |
1 |
92,439,400 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7467:Or6b3
|
UTSW |
1 |
92,439,570 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9119:Or6b3
|
UTSW |
1 |
92,438,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9239:Or6b3
|
UTSW |
1 |
92,439,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation