Incidental Mutation 'R2863:Or8b56'
| ID |
253037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b56
|
| Ensembl Gene |
ENSMUSG00000044798 |
| Gene Name |
olfactory receptor family 8 subfamily B member 56 |
| Synonyms |
Olfr923, MOR164-2, GA_x6K02T2PVTD-32530445-32531380 |
| MMRRC Submission |
040453-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R2863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
38738911-38739978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38739835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 283
(F283I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051238]
[ENSMUST00000213619]
[ENSMUST00000219798]
|
| AlphaFold |
Q7TRB9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051238
AA Change: F277I
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062073
Gene: ENSMUSG00000044798
AA Change: F277I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
314 |
1.2e-46 |
PFAM |
|
Pfam:7tm_1
|
47 |
296 |
3.5e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213550
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213619
AA Change: F277I
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219798
AA Change: F283I
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh3 |
A |
T |
19: 45,874,396 (GRCm39) |
N592K |
probably damaging |
Het |
| Bag5 |
T |
C |
12: 111,677,029 (GRCm39) |
T265A |
probably benign |
Het |
| Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
| Boc |
A |
G |
16: 44,313,323 (GRCm39) |
S514P |
probably benign |
Het |
| Ddx6 |
G |
T |
9: 44,525,553 (GRCm39) |
L103F |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,517,316 (GRCm39) |
P115S |
probably benign |
Het |
| Exoc6 |
T |
C |
19: 37,641,861 (GRCm39) |
F709S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Ldb2 |
T |
C |
5: 44,637,666 (GRCm39) |
Q214R |
probably damaging |
Het |
| Mus81 |
T |
G |
19: 5,536,528 (GRCm39) |
Y146S |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,057,290 (GRCm39) |
I335V |
probably benign |
Het |
| Nid2 |
G |
A |
14: 19,818,471 (GRCm39) |
E322K |
possibly damaging |
Het |
| Odad1 |
T |
C |
7: 45,597,736 (GRCm39) |
S549P |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,226,236 (GRCm39) |
S765R |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,241,414 (GRCm39) |
H698L |
possibly damaging |
Het |
| Otog |
T |
G |
7: 45,918,730 (GRCm39) |
C935W |
probably damaging |
Het |
| Pcdhga3 |
T |
C |
18: 37,807,643 (GRCm39) |
V32A |
probably damaging |
Het |
| Phc3 |
C |
T |
3: 30,968,277 (GRCm39) |
D920N |
probably damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,689 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
| Prkag2 |
T |
A |
5: 25,226,790 (GRCm39) |
T156S |
probably benign |
Het |
| Psd |
T |
C |
19: 46,303,201 (GRCm39) |
D95G |
probably damaging |
Het |
| Riox2 |
A |
G |
16: 59,309,756 (GRCm39) |
D370G |
probably damaging |
Het |
| Spink14 |
T |
A |
18: 44,163,948 (GRCm39) |
C39S |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,997,695 (GRCm39) |
V728A |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,985,019 (GRCm39) |
E29G |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,078,060 (GRCm39) |
Y1139* |
probably null |
Het |
| Wdr95 |
T |
A |
5: 149,505,321 (GRCm39) |
C367* |
probably null |
Het |
| Zfp35 |
T |
A |
18: 24,137,352 (GRCm39) |
D565E |
probably damaging |
Het |
|
| Other mutations in Or8b56 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01485:Or8b56
|
APN |
9 |
38,739,895 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01521:Or8b56
|
APN |
9 |
38,739,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Or8b56
|
APN |
9 |
38,739,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02240:Or8b56
|
APN |
9 |
38,739,602 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02794:Or8b56
|
APN |
9 |
38,739,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0116:Or8b56
|
UTSW |
9 |
38,739,860 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0118:Or8b56
|
UTSW |
9 |
38,739,154 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0189:Or8b56
|
UTSW |
9 |
38,739,111 (GRCm39) |
nonsense |
probably null |
|
|
R1381:Or8b56
|
UTSW |
9 |
38,739,634 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1512:Or8b56
|
UTSW |
9 |
38,739,660 (GRCm39) |
nonsense |
probably null |
|
|
R1702:Or8b56
|
UTSW |
9 |
38,739,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2357:Or8b56
|
UTSW |
9 |
38,739,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2985:Or8b56
|
UTSW |
9 |
38,739,406 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5475:Or8b56
|
UTSW |
9 |
38,739,762 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5682:Or8b56
|
UTSW |
9 |
38,739,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8243:Or8b56
|
UTSW |
9 |
38,739,803 (GRCm39) |
missense |
|
|
|
R8743:Or8b56
|
UTSW |
9 |
38,738,995 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9182:Or8b56
|
UTSW |
9 |
38,739,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Or8b56
|
UTSW |
9 |
38,739,014 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATGAACATTGTGGTGTCTAC -3'
(R):5'- GTTGTGAATAAAGCAAATCTGGCTC -3'
Sequencing Primer
(F):5'- GGTGTCTACCAGTACCACTTTTATC -3'
(R):5'- GCAAATCTGGCTCTAAATTAATGGAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation