Incidental Mutation 'R3609:Or8k23'
ID |
269179 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or8k23
|
Ensembl Gene |
ENSMUSG00000075188 |
Gene Name |
olfactory receptor family 8 subfamily K member 23 |
Synonyms |
MOR186-2, Olfr1056, GA_x6K02T2Q125-47827833-47826892 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R3609 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
86185703-86186781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 86185826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glycine
at position 300
(A300G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149545
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099893]
[ENSMUST00000216547]
|
AlphaFold |
A2AVY0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099893
AA Change: A300G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000097478 Gene: ENSMUSG00000075188 AA Change: A300G
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
308 |
1.6e-47 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
7.8e-20 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216547
AA Change: A300G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bpifc |
A |
T |
10: 85,836,502 (GRCm39) |
M1K |
probably null |
Het |
Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
Ces1c |
A |
T |
8: 93,846,960 (GRCm39) |
I98N |
probably damaging |
Het |
Clec4b1 |
T |
A |
6: 123,027,591 (GRCm39) |
L16Q |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dop1b |
A |
G |
16: 93,536,220 (GRCm39) |
Y106C |
probably damaging |
Het |
Irak3 |
G |
T |
10: 119,981,582 (GRCm39) |
T441K |
possibly damaging |
Het |
Kif18a |
A |
C |
2: 109,168,941 (GRCm39) |
D833A |
probably benign |
Het |
Lypd8l |
G |
A |
11: 58,503,384 (GRCm39) |
T48I |
possibly damaging |
Het |
Morc2b |
A |
G |
17: 33,355,252 (GRCm39) |
V840A |
probably damaging |
Het |
Or4a47 |
A |
G |
2: 89,665,420 (GRCm39) |
S290P |
probably damaging |
Het |
Or5al1 |
G |
A |
2: 85,989,976 (GRCm39) |
T246I |
probably benign |
Het |
Or5p57 |
A |
G |
7: 107,665,576 (GRCm39) |
F143S |
probably damaging |
Het |
Pgap6 |
G |
A |
17: 26,337,860 (GRCm39) |
V415I |
probably benign |
Het |
Rest |
A |
C |
5: 77,430,647 (GRCm39) |
N1022T |
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Tsc2 |
A |
C |
17: 24,841,524 (GRCm39) |
I365S |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,589,603 (GRCm39) |
R21217H |
probably damaging |
Het |
Vim |
A |
T |
2: 13,583,437 (GRCm39) |
H253L |
possibly damaging |
Het |
Vmn2r71 |
T |
A |
7: 85,268,870 (GRCm39) |
C358S |
probably damaging |
Het |
|
Other mutations in Or8k23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00957:Or8k23
|
APN |
2 |
86,186,477 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0525:Or8k23
|
UTSW |
2 |
86,186,619 (GRCm39) |
missense |
probably benign |
0.00 |
R0544:Or8k23
|
UTSW |
2 |
86,186,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R1124:Or8k23
|
UTSW |
2 |
86,186,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R2011:Or8k23
|
UTSW |
2 |
86,186,530 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2395:Or8k23
|
UTSW |
2 |
86,186,609 (GRCm39) |
missense |
probably benign |
0.01 |
R2508:Or8k23
|
UTSW |
2 |
86,186,708 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3923:Or8k23
|
UTSW |
2 |
86,186,205 (GRCm39) |
missense |
probably benign |
0.22 |
R4531:Or8k23
|
UTSW |
2 |
86,186,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R4836:Or8k23
|
UTSW |
2 |
86,186,094 (GRCm39) |
missense |
probably benign |
0.39 |
R5085:Or8k23
|
UTSW |
2 |
86,186,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R6210:Or8k23
|
UTSW |
2 |
86,186,702 (GRCm39) |
missense |
probably benign |
0.00 |
R7265:Or8k23
|
UTSW |
2 |
86,186,088 (GRCm39) |
missense |
probably benign |
0.00 |
R8059:Or8k23
|
UTSW |
2 |
86,186,306 (GRCm39) |
missense |
probably benign |
0.01 |
R8286:Or8k23
|
UTSW |
2 |
86,186,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R8460:Or8k23
|
UTSW |
2 |
86,186,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R9643:Or8k23
|
UTSW |
2 |
86,186,408 (GRCm39) |
missense |
probably benign |
0.20 |
X0020:Or8k23
|
UTSW |
2 |
86,186,118 (GRCm39) |
missense |
probably benign |
0.09 |
Z1088:Or8k23
|
UTSW |
2 |
86,186,237 (GRCm39) |
missense |
probably benign |
0.35 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACTATGCCTTTTAGGTCCAG -3'
(R):5'- TGGGTCTCACCTTACAGTGG -3'
Sequencing Primer
(F):5'- CTTGTAGGACCCAAGAGT -3'
(R):5'- ACAGTGGTAGTTATATTGTATGGGAC -3'
|
Posted On |
2015-02-19 |