Incidental Mutation 'IGL01966:Or8b1b'
| ID |
181543 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8b1b
|
| Ensembl Gene |
ENSMUSG00000094380 |
| Gene Name |
olfactory receptor family 8 subfamily B member 1B |
| Synonyms |
Olfr904, MOR167-3, GA_x6K02T2PVTD-32156773-32157705 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL01966
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
38375330-38378952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38376225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 296
(D296V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058153]
[ENSMUST00000216724]
|
| AlphaFold |
Q7TRC9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058153
AA Change: D296V
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057148
Gene: ENSMUSG00000094380
AA Change: D296V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
5.7e-51 |
PFAM |
|
Pfam:7tm_1
|
41 |
291 |
1.5e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216724
AA Change: D296V
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
A |
G |
4: 155,818,526 (GRCm39) |
|
probably null |
Het |
| Acer2 |
T |
A |
4: 86,835,815 (GRCm39) |
*230R |
probably null |
Het |
| Adamts12 |
A |
G |
15: 11,258,269 (GRCm39) |
K527E |
probably damaging |
Het |
| Anks1b |
C |
A |
10: 90,730,994 (GRCm39) |
R937S |
probably damaging |
Het |
| C2cd5 |
G |
T |
6: 142,957,767 (GRCm39) |
C989* |
probably null |
Het |
| Calhm5 |
T |
C |
10: 33,972,129 (GRCm39) |
H102R |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,312,121 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,201,917 (GRCm39) |
T522S |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,142,016 (GRCm39) |
|
probably benign |
Het |
| Elmod1 |
T |
A |
9: 53,828,611 (GRCm39) |
I224F |
probably benign |
Het |
| Emx2 |
T |
A |
19: 59,448,021 (GRCm39) |
I24N |
possibly damaging |
Het |
| Fga |
A |
T |
3: 82,936,461 (GRCm39) |
I86F |
probably damaging |
Het |
| Fig4 |
C |
A |
10: 41,108,098 (GRCm39) |
|
probably null |
Het |
| Gm10234 |
T |
C |
6: 95,299,118 (GRCm39) |
|
probably null |
Het |
| Gm12588 |
A |
T |
11: 121,797,561 (GRCm39) |
I96N |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,561,486 (GRCm39) |
I788T |
probably damaging |
Het |
| Homer3 |
A |
G |
8: 70,742,807 (GRCm39) |
K173E |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,777,227 (GRCm39) |
V635A |
probably damaging |
Het |
| Kctd3 |
C |
T |
1: 188,724,859 (GRCm39) |
G241R |
probably damaging |
Het |
| Krt8 |
G |
T |
15: 101,906,105 (GRCm39) |
S423R |
probably benign |
Het |
| Lrrc24 |
C |
A |
15: 76,602,511 (GRCm39) |
A125S |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,570,244 (GRCm39) |
S435P |
possibly damaging |
Het |
| Nfkb2 |
G |
A |
19: 46,298,129 (GRCm39) |
G502D |
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,505,103 (GRCm39) |
C750Y |
probably damaging |
Het |
| Oxsm |
T |
C |
14: 16,242,520 (GRCm38) |
N83S |
probably benign |
Het |
| Paqr3 |
A |
G |
5: 97,247,502 (GRCm39) |
L202P |
probably benign |
Het |
| Pcdh10 |
T |
A |
3: 45,334,733 (GRCm39) |
L349Q |
probably benign |
Het |
| Ptdss2 |
A |
G |
7: 140,715,304 (GRCm39) |
T29A |
possibly damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,782 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,272,789 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
A |
T |
19: 29,572,963 (GRCm39) |
Y801F |
probably benign |
Het |
| Sgcz |
A |
T |
8: 38,107,169 (GRCm39) |
S114R |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,202,757 (GRCm39) |
D124G |
probably damaging |
Het |
| Zscan22 |
T |
G |
7: 12,640,398 (GRCm39) |
M214R |
probably benign |
Het |
|
| Other mutations in Or8b1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01352:Or8b1b
|
APN |
9 |
38,376,030 (GRCm39) |
missense |
probably benign |
|
|
IGL02328:Or8b1b
|
APN |
9 |
38,375,972 (GRCm39) |
missense |
probably benign |
|
|
IGL03394:Or8b1b
|
APN |
9 |
38,375,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0085:Or8b1b
|
UTSW |
9 |
38,375,958 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0125:Or8b1b
|
UTSW |
9 |
38,375,757 (GRCm39) |
nonsense |
probably null |
|
|
R1506:Or8b1b
|
UTSW |
9 |
38,375,439 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1545:Or8b1b
|
UTSW |
9 |
38,375,815 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1610:Or8b1b
|
UTSW |
9 |
38,375,927 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2008:Or8b1b
|
UTSW |
9 |
38,375,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2424:Or8b1b
|
UTSW |
9 |
38,376,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3824:Or8b1b
|
UTSW |
9 |
38,375,822 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3964:Or8b1b
|
UTSW |
9 |
38,375,979 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4093:Or8b1b
|
UTSW |
9 |
38,375,379 (GRCm39) |
missense |
probably null |
1.00 |
|
R4454:Or8b1b
|
UTSW |
9 |
38,375,938 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5650:Or8b1b
|
UTSW |
9 |
38,376,023 (GRCm39) |
nonsense |
probably null |
|
|
R6921:Or8b1b
|
UTSW |
9 |
38,375,543 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7406:Or8b1b
|
UTSW |
9 |
38,375,439 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7597:Or8b1b
|
UTSW |
9 |
38,375,802 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7959:Or8b1b
|
UTSW |
9 |
38,376,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation