Incidental Mutation 'R2345:Or8b57'
| ID |
245985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b57
|
| Ensembl Gene |
ENSMUSG00000044205 |
| Gene Name |
olfactory receptor family 8 subfamily B member 57 |
| Synonyms |
MOR162-1, GA_x6K02T2PVTD-33790948-33790013, Olfr983 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R2345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
40003313-40004854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 40003849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 138
(I138L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050996]
[ENSMUST00000213087]
[ENSMUST00000213858]
[ENSMUST00000214856]
[ENSMUST00000217536]
|
| AlphaFold |
Q8VG90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050996
AA Change: I138L
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000083206
Gene: ENSMUSG00000044205
AA Change: I138L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
311 |
2e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
39 |
307 |
3.1e-5 |
PFAM |
|
Pfam:7tm_1
|
45 |
293 |
1.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213087
AA Change: I134L
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213858
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214856
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217536
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (30/30) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn3 |
A |
T |
12: 101,914,580 (GRCm39) |
M48K |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,210,740 (GRCm39) |
E638G |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Ceacam3 |
T |
G |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
| Ckb |
G |
A |
12: 111,638,238 (GRCm39) |
T52I |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,891,900 (GRCm39) |
M773T |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,203,872 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,156,806 (GRCm39) |
D582G |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,983,348 (GRCm39) |
N982K |
possibly damaging |
Het |
| Jag2 |
T |
C |
12: 112,872,684 (GRCm39) |
E1190G |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,370 (GRCm39) |
E90G |
probably damaging |
Het |
| Kynu |
A |
C |
2: 43,471,397 (GRCm39) |
Y71S |
probably damaging |
Het |
| Lonrf1 |
A |
T |
8: 36,690,016 (GRCm39) |
|
probably null |
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,824,069 (GRCm39) |
M64L |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,992,700 (GRCm39) |
F302Y |
probably damaging |
Het |
| Ndst4 |
T |
C |
3: 125,501,769 (GRCm39) |
S111P |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or1f19 |
G |
A |
16: 3,411,003 (GRCm39) |
V248M |
probably damaging |
Het |
| Or5m8 |
A |
G |
2: 85,822,166 (GRCm39) |
T2A |
probably benign |
Het |
| Phf3 |
G |
T |
1: 30,844,432 (GRCm39) |
S1509* |
probably null |
Het |
| Plekhh1 |
A |
T |
12: 79,100,421 (GRCm39) |
I130F |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,238,594 (GRCm39) |
F1953S |
unknown |
Het |
| Togaram1 |
T |
A |
12: 65,055,406 (GRCm39) |
S1466T |
probably benign |
Het |
| Tox2 |
T |
C |
2: 163,161,518 (GRCm39) |
Y348H |
probably damaging |
Het |
| Vmn2r129 |
T |
A |
4: 156,689,334 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr90 |
G |
T |
17: 26,078,136 (GRCm39) |
H411N |
probably benign |
Het |
| Yme1l1 |
C |
T |
2: 23,084,798 (GRCm39) |
T632I |
probably damaging |
Het |
|
| Other mutations in Or8b57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Or8b57
|
APN |
9 |
40,004,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01329:Or8b57
|
APN |
9 |
40,003,324 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01892:Or8b57
|
APN |
9 |
40,004,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02712:Or8b57
|
APN |
9 |
40,004,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0025:Or8b57
|
UTSW |
9 |
40,003,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Or8b57
|
UTSW |
9 |
40,003,983 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0136:Or8b57
|
UTSW |
9 |
40,003,315 (GRCm39) |
makesense |
probably null |
|
|
R0715:Or8b57
|
UTSW |
9 |
40,003,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3432:Or8b57
|
UTSW |
9 |
40,003,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5027:Or8b57
|
UTSW |
9 |
40,003,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6874:Or8b57
|
UTSW |
9 |
40,004,022 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7818:Or8b57
|
UTSW |
9 |
40,004,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Or8b57
|
UTSW |
9 |
40,003,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8304:Or8b57
|
UTSW |
9 |
40,003,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Or8b57
|
UTSW |
9 |
40,003,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9276:Or8b57
|
UTSW |
9 |
40,003,632 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9318:Or8b57
|
UTSW |
9 |
40,004,112 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9631:Or8b57
|
UTSW |
9 |
40,004,223 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCAGGACAGCTTCAAGAG -3'
(R):5'- TCCTGTTGGGCTTGACACAG -3'
Sequencing Primer
(F):5'- CTTCAAGAGAGGGGGTATGTCACAC -3'
(R):5'- TTGACACAGCTGCCAGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation