Incidental Mutation 'R3817:Or8b40'
| ID |
274746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b40
|
| Ensembl Gene |
ENSMUSG00000096356 |
| Gene Name |
olfactory receptor family 8 subfamily B member 40 |
| Synonyms |
GA_x6K02T2PVTD-31795028-31795957, Olfr889, MOR162-2 |
| MMRRC Submission |
040771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R3817 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
38027094-38028023 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38027922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 277
(T277S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072290]
[ENSMUST00000217286]
|
| AlphaFold |
L7N1Y6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072290
AA Change: T282S
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072137
Gene: ENSMUSG00000096356
AA Change: T282S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
36 |
311 |
4.4e-50 |
PFAM |
|
Pfam:7tm_1
|
46 |
293 |
1e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213042
AA Change: T277S
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217286
AA Change: T277S
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (34/34) |
| 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 |
|---|
| Appbp2 |
G |
T |
11: 85,088,934 (GRCm39) |
P369T |
probably damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| B3galt2 |
G |
T |
1: 143,522,811 (GRCm39) |
G316C |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,710,893 (GRCm39) |
|
probably benign |
Het |
| Clec4a4 |
A |
C |
6: 122,967,366 (GRCm39) |
N14T |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,175,835 (GRCm39) |
Q716L |
probably benign |
Het |
| Cts7 |
T |
C |
13: 61,504,350 (GRCm39) |
N71S |
probably damaging |
Het |
| Cyb561a3 |
T |
C |
19: 10,559,728 (GRCm39) |
S18P |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,127 (GRCm39) |
F234L |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Exph5 |
C |
T |
9: 53,286,794 (GRCm39) |
Q1292* |
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
| Lig3 |
G |
A |
11: 82,686,941 (GRCm39) |
V695M |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,766,670 (GRCm39) |
E2735G |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,044 (GRCm39) |
E152G |
probably benign |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,114,310 (GRCm39) |
T765A |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Or8g52 |
A |
G |
9: 39,631,404 (GRCm39) |
N294D |
possibly damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Ppp2r5c |
T |
C |
12: 110,510,621 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,037,122 (GRCm39) |
V422A |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Tns3 |
G |
C |
11: 8,384,619 (GRCm39) |
R1400G |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,286,601 (GRCm39) |
Y78F |
probably damaging |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
| Zfp672 |
G |
T |
11: 58,207,462 (GRCm39) |
H286Q |
possibly damaging |
Het |
|
| Other mutations in Or8b40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02201:Or8b40
|
APN |
9 |
38,027,893 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02604:Or8b40
|
APN |
9 |
38,027,148 (GRCm39) |
nonsense |
probably null |
|
|
IGL02727:Or8b40
|
APN |
9 |
38,027,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0364:Or8b40
|
UTSW |
9 |
38,027,325 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0387:Or8b40
|
UTSW |
9 |
38,027,066 (GRCm39) |
splice site |
probably null |
|
|
R0409:Or8b40
|
UTSW |
9 |
38,027,547 (GRCm39) |
missense |
probably benign |
|
|
R0515:Or8b40
|
UTSW |
9 |
38,027,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0693:Or8b40
|
UTSW |
9 |
38,027,325 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1554:Or8b40
|
UTSW |
9 |
38,027,230 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1972:Or8b40
|
UTSW |
9 |
38,027,863 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1973:Or8b40
|
UTSW |
9 |
38,027,863 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3815:Or8b40
|
UTSW |
9 |
38,027,922 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3816:Or8b40
|
UTSW |
9 |
38,027,922 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3819:Or8b40
|
UTSW |
9 |
38,027,922 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5532:Or8b40
|
UTSW |
9 |
38,027,923 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5775:Or8b40
|
UTSW |
9 |
38,027,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5931:Or8b40
|
UTSW |
9 |
38,027,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6458:Or8b40
|
UTSW |
9 |
38,027,350 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6751:Or8b40
|
UTSW |
9 |
38,027,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7168:Or8b40
|
UTSW |
9 |
38,027,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7673:Or8b40
|
UTSW |
9 |
38,027,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7698:Or8b40
|
UTSW |
9 |
38,027,188 (GRCm39) |
nonsense |
probably null |
|
|
R8432:Or8b40
|
UTSW |
9 |
38,027,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9034:Or8b40
|
UTSW |
9 |
38,027,550 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9236:Or8b40
|
UTSW |
9 |
38,027,496 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9561:Or8b40
|
UTSW |
9 |
38,028,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCTCCTGCACAAGTACC -3'
(R):5'- ACCGCTCTTGCAGATATGAC -3'
Sequencing Primer
(F):5'- GTACCTACATCAATGAGCTGGTAG -3'
(R):5'- CCGCTCTTGCAGATATGACATAGG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation