Incidental Mutation 'R8185:Or8b8'
| ID |
634831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b8
|
| Ensembl Gene |
ENSMUSG00000066748 |
| Gene Name |
olfactory receptor family 8 subfamily B member 8 |
| Synonyms |
GA_x6K02T2PVTD-31578734-31579666, Olfr145, K21, MOR161-6 |
| MMRRC Submission |
067608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R8185 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
37808020-37814815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 37809531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 277
(Y277S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086062]
[ENSMUST00000213688]
|
| AlphaFold |
Q60882 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086062
AA Change: Y277S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083229
Gene: ENSMUSG00000066748
AA Change: Y277S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
4e-51 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
1.4e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213688
AA Change: Y277S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
C |
5: 88,120,011 (GRCm39) |
V256A |
possibly damaging |
Het |
| Ackr3 |
G |
A |
1: 90,141,666 (GRCm39) |
V42M |
probably benign |
Het |
| C9 |
T |
A |
15: 6,520,878 (GRCm39) |
I441N |
probably damaging |
Het |
| Cd44 |
G |
A |
2: 102,654,665 (GRCm39) |
A667V |
possibly damaging |
Het |
| Cdc23 |
T |
C |
18: 34,774,197 (GRCm39) |
N322D |
probably benign |
Het |
| Chrm2 |
A |
G |
6: 36,500,824 (GRCm39) |
N227S |
probably benign |
Het |
| Cnot1 |
C |
T |
8: 96,487,979 (GRCm39) |
R559Q |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,391,897 (GRCm39) |
N121D |
probably damaging |
Het |
| Cog7 |
A |
G |
7: 121,576,969 (GRCm39) |
L63P |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,854,168 (GRCm39) |
A285V |
probably benign |
Het |
| Cpsf7 |
C |
T |
19: 10,514,224 (GRCm39) |
R343* |
probably null |
Het |
| Cubn |
T |
G |
2: 13,299,129 (GRCm39) |
K3181N |
probably benign |
Het |
| Dsg1a |
C |
T |
18: 20,473,669 (GRCm39) |
T914I |
probably damaging |
Het |
| Ebf3 |
A |
T |
7: 136,827,607 (GRCm39) |
C255S |
possibly damaging |
Het |
| Eif1ad5 |
T |
A |
12: 87,940,433 (GRCm39) |
W46R |
noncoding transcript |
Het |
| Fasn |
A |
T |
11: 120,702,969 (GRCm39) |
I1658N |
probably benign |
Het |
| Fcgr2b |
A |
G |
1: 170,794,020 (GRCm39) |
V210A |
probably damaging |
Het |
| Flvcr1 |
G |
A |
1: 190,747,681 (GRCm39) |
P305S |
probably damaging |
Het |
| Frem3 |
G |
T |
8: 81,338,933 (GRCm39) |
E409* |
probably null |
Het |
| Gabrr2 |
T |
A |
4: 33,082,330 (GRCm39) |
D213E |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,040 (GRCm39) |
D418E |
possibly damaging |
Het |
| Immt |
C |
T |
6: 71,849,835 (GRCm39) |
Q530* |
probably null |
Het |
| Ints10 |
T |
C |
8: 69,249,370 (GRCm39) |
F67L |
possibly damaging |
Het |
| Kdm4c |
C |
T |
4: 74,291,821 (GRCm39) |
H813Y |
probably benign |
Het |
| Klhl5 |
T |
A |
5: 65,313,471 (GRCm39) |
M395K |
probably damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,426,332 (GRCm39) |
I49T |
probably damaging |
Het |
| Lmln |
A |
T |
16: 32,909,690 (GRCm39) |
N357I |
probably damaging |
Het |
| Lpar1 |
A |
T |
4: 58,486,509 (GRCm39) |
M254K |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,894 (GRCm39) |
V554A |
probably damaging |
Het |
| Melk |
G |
A |
4: 44,360,965 (GRCm39) |
V582I |
probably benign |
Het |
| Mmp27 |
A |
G |
9: 7,573,492 (GRCm39) |
T195A |
unknown |
Het |
| Nedd4l |
T |
C |
18: 65,342,769 (GRCm39) |
F781L |
probably damaging |
Het |
| Nvl |
G |
A |
1: 180,971,739 (GRCm39) |
|
probably benign |
Het |
| Nxpe4 |
G |
A |
9: 48,304,509 (GRCm39) |
D199N |
possibly damaging |
Het |
| Or2k2 |
T |
C |
4: 58,785,542 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ovol1 |
T |
C |
19: 5,601,542 (GRCm39) |
D160G |
probably damaging |
Het |
| Ppp1r13l |
C |
T |
7: 19,106,863 (GRCm39) |
P453S |
probably benign |
Het |
| Ppp1r37 |
C |
T |
7: 19,266,873 (GRCm39) |
G373S |
probably damaging |
Het |
| Slc7a9 |
T |
C |
7: 35,151,842 (GRCm39) |
S46P |
probably damaging |
Het |
| Sntn |
A |
G |
14: 13,679,014 (GRCm38) |
I63V |
probably benign |
Het |
| Syde2 |
T |
C |
3: 145,694,667 (GRCm39) |
V305A |
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,398,430 (GRCm39) |
|
probably null |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,163 (GRCm39) |
N118I |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
|
| Other mutations in Or8b8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Or8b8
|
APN |
9 |
37,809,359 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01586:Or8b8
|
APN |
9 |
37,809,272 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02185:Or8b8
|
APN |
9 |
37,809,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02895:Or8b8
|
APN |
9 |
37,809,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02956:Or8b8
|
APN |
9 |
37,809,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Or8b8
|
UTSW |
9 |
37,809,138 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0513:Or8b8
|
UTSW |
9 |
37,809,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Or8b8
|
UTSW |
9 |
37,809,622 (GRCm39) |
missense |
probably benign |
|
|
R4610:Or8b8
|
UTSW |
9 |
37,809,622 (GRCm39) |
missense |
probably benign |
|
|
R4611:Or8b8
|
UTSW |
9 |
37,809,622 (GRCm39) |
missense |
probably benign |
|
|
R4982:Or8b8
|
UTSW |
9 |
37,808,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Or8b8
|
UTSW |
9 |
37,808,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5608:Or8b8
|
UTSW |
9 |
37,809,078 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5688:Or8b8
|
UTSW |
9 |
37,809,359 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5906:Or8b8
|
UTSW |
9 |
37,809,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6286:Or8b8
|
UTSW |
9 |
37,809,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7138:Or8b8
|
UTSW |
9 |
37,809,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7145:Or8b8
|
UTSW |
9 |
37,808,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7993:Or8b8
|
UTSW |
9 |
37,808,633 (GRCm39) |
intron |
probably benign |
|
|
R8046:Or8b8
|
UTSW |
9 |
37,808,685 (GRCm39) |
splice site |
probably benign |
|
|
R9276:Or8b8
|
UTSW |
9 |
37,809,415 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9352:Or8b8
|
UTSW |
9 |
37,808,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0012:Or8b8
|
UTSW |
9 |
37,809,624 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCACCTATGTAAATGAGCTGG -3'
(R):5'- TGTAACACATGAGGACCCAGTC -3'
Sequencing Primer
(F):5'- GCACCTATGTAAATGAGCTGGTAGTC -3'
(R):5'- CACATGAGGACCCAGTCATTTATG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation