Incidental Mutation 'IGL01540:Or6b2'
| ID |
90125 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6b2
|
| Ensembl Gene |
ENSMUSG00000067064 |
| Gene Name |
olfactory receptor family 6 subfamily B member 2 |
| Synonyms |
Olfr1416, GA_x6K02T2R7CC-81277975-81278913, MOR103-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL01540
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
92407403-92408341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92408202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 47
(L47P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086837]
[ENSMUST00000214928]
|
| AlphaFold |
Q8VGU4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086837
AA Change: L47P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000084048
Gene: ENSMUSG00000067064
AA Change: L47P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
5.9e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203760
AA Change: L47P
|
| SMART Domains |
Protein: ENSMUSP00000145466
Gene: ENSMUSG00000067064
AA Change: L47P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
5.9e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.7e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214928
AA Change: L47P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,151,252 (GRCm39) |
|
probably null |
Het |
| Ceacam12 |
T |
C |
7: 17,805,727 (GRCm39) |
|
probably benign |
Het |
| Cyp2j13 |
A |
T |
4: 95,956,959 (GRCm39) |
|
probably benign |
Het |
| Golim4 |
T |
G |
3: 75,794,047 (GRCm39) |
E538A |
possibly damaging |
Het |
| Gstcd |
A |
T |
3: 132,692,175 (GRCm39) |
V580D |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,247,017 (GRCm39) |
T1115A |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,515,910 (GRCm39) |
S18P |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,625,887 (GRCm39) |
L674P |
probably damaging |
Het |
| Nol8 |
A |
T |
13: 49,815,146 (GRCm39) |
Q400L |
probably benign |
Het |
| Nt5el |
T |
C |
13: 105,218,761 (GRCm39) |
S32P |
possibly damaging |
Het |
| Or10a3b |
G |
T |
7: 108,444,887 (GRCm39) |
T110N |
probably damaging |
Het |
| Pycard |
T |
A |
7: 127,592,002 (GRCm39) |
D113V |
probably benign |
Het |
| S100z |
G |
A |
13: 95,613,861 (GRCm39) |
T83M |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,429,084 (GRCm39) |
D381G |
possibly damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,120,016 (GRCm39) |
H4331Q |
possibly damaging |
Het |
| Tbpl2 |
T |
C |
2: 23,984,985 (GRCm39) |
H53R |
probably benign |
Het |
| Tlr6 |
T |
C |
5: 65,112,629 (GRCm39) |
R93G |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,968,998 (GRCm39) |
E172G |
probably benign |
Het |
| Vrk3 |
A |
G |
7: 44,416,568 (GRCm39) |
H277R |
probably damaging |
Het |
| Zfp512 |
T |
C |
5: 31,630,840 (GRCm39) |
V338A |
probably damaging |
Het |
|
| Other mutations in Or6b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Or6b2
|
APN |
1 |
92,407,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00980:Or6b2
|
APN |
1 |
92,407,402 (GRCm39) |
splice site |
probably null |
|
|
BB007:Or6b2
|
UTSW |
1 |
92,407,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB017:Or6b2
|
UTSW |
1 |
92,407,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1146:Or6b2
|
UTSW |
1 |
92,407,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Or6b2
|
UTSW |
1 |
92,407,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Or6b2
|
UTSW |
1 |
92,407,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5207:Or6b2
|
UTSW |
1 |
92,407,594 (GRCm39) |
missense |
probably benign |
|
|
R5287:Or6b2
|
UTSW |
1 |
92,408,019 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5403:Or6b2
|
UTSW |
1 |
92,408,019 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6074:Or6b2
|
UTSW |
1 |
92,407,497 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6232:Or6b2
|
UTSW |
1 |
92,408,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6355:Or6b2
|
UTSW |
1 |
92,407,702 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6378:Or6b2
|
UTSW |
1 |
92,408,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Or6b2
|
UTSW |
1 |
92,408,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7930:Or6b2
|
UTSW |
1 |
92,407,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8280:Or6b2
|
UTSW |
1 |
92,407,729 (GRCm39) |
missense |
noncoding transcript |
|
|
R8351:Or6b2
|
UTSW |
1 |
92,407,660 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8437:Or6b2
|
UTSW |
1 |
92,408,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8451:Or6b2
|
UTSW |
1 |
92,407,660 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0065:Or6b2
|
UTSW |
1 |
92,407,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation