Incidental Mutation 'R3940:Or8k40'
ID |
307399 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or8k40
|
Ensembl Gene |
ENSMUSG00000075172 |
Gene Name |
olfactory receptor family 8 subfamily K member 40 |
Synonyms |
MOR188-4, GA_x6K02T2Q125-48247345-48246404, Olfr1090 |
MMRRC Submission |
040922-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R3940 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
86584139-86585080 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 86584275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 269
(D269V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149968
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099875]
[ENSMUST00000215991]
[ENSMUST00000217043]
|
AlphaFold |
Q8VGA6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099875
AA Change: D269V
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000097460 Gene: ENSMUSG00000075172 AA Change: D269V
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
307 |
1.4e-47 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
7.1e-20 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215991
AA Change: D269V
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217043
AA Change: D269V
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.3962 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
95% (35/37) |
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 |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Acsm3 |
A |
G |
7: 119,373,109 (GRCm39) |
E204G |
probably benign |
Het |
Acta2 |
A |
T |
19: 34,220,880 (GRCm39) |
I276N |
possibly damaging |
Het |
Ankrd16 |
T |
C |
2: 11,789,192 (GRCm39) |
C260R |
probably benign |
Het |
Ankrd42 |
T |
C |
7: 92,240,996 (GRCm39) |
|
probably null |
Het |
Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
Calm5 |
A |
T |
13: 3,904,485 (GRCm39) |
I37F |
possibly damaging |
Het |
Casq1 |
A |
G |
1: 172,047,103 (GRCm39) |
V52A |
possibly damaging |
Het |
Col22a1 |
A |
T |
15: 71,853,782 (GRCm39) |
L260* |
probably null |
Het |
Cttnbp2 |
C |
A |
6: 18,420,974 (GRCm39) |
V846L |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,444,754 (GRCm39) |
T627A |
probably benign |
Het |
Eogt |
T |
C |
6: 97,090,875 (GRCm39) |
I421M |
probably damaging |
Het |
Fam135a |
T |
A |
1: 24,096,556 (GRCm39) |
H63L |
probably damaging |
Het |
Fmo3 |
T |
A |
1: 162,791,555 (GRCm39) |
T241S |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
Gm14393 |
T |
C |
2: 174,903,420 (GRCm39) |
|
probably null |
Het |
Kcna5 |
C |
T |
6: 126,510,614 (GRCm39) |
V505I |
probably damaging |
Het |
Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
Or7a41 |
T |
A |
10: 78,871,038 (GRCm39) |
I136N |
probably damaging |
Het |
Pcdhb7 |
T |
C |
18: 37,477,021 (GRCm39) |
L719P |
probably damaging |
Het |
Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
Pik3ip1 |
A |
G |
11: 3,281,987 (GRCm39) |
N48S |
probably damaging |
Het |
Pkn2 |
G |
A |
3: 142,499,672 (GRCm39) |
S951L |
probably damaging |
Het |
Prrc2a |
T |
C |
17: 35,376,474 (GRCm39) |
H772R |
possibly damaging |
Het |
Ric1 |
T |
C |
19: 29,548,162 (GRCm39) |
Y277H |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rnf123 |
A |
T |
9: 107,941,234 (GRCm39) |
|
probably benign |
Het |
Robo1 |
T |
C |
16: 72,806,631 (GRCm39) |
S1166P |
probably benign |
Het |
S100a10 |
A |
G |
3: 93,468,383 (GRCm39) |
E38G |
probably benign |
Het |
Slc34a1 |
A |
T |
13: 55,560,983 (GRCm39) |
I483F |
probably damaging |
Het |
Stim1 |
A |
G |
7: 102,084,848 (GRCm39) |
N600S |
probably benign |
Het |
Ube3c |
T |
A |
5: 29,824,358 (GRCm39) |
N517K |
probably benign |
Het |
|
Other mutations in Or8k40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01118:Or8k40
|
APN |
2 |
86,584,314 (GRCm39) |
missense |
probably benign |
0.42 |
IGL01343:Or8k40
|
APN |
2 |
86,584,843 (GRCm39) |
nonsense |
probably null |
|
IGL01431:Or8k40
|
APN |
2 |
86,584,508 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01771:Or8k40
|
APN |
2 |
86,584,626 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03182:Or8k40
|
APN |
2 |
86,584,366 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03229:Or8k40
|
APN |
2 |
86,584,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R0126:Or8k40
|
UTSW |
2 |
86,584,981 (GRCm39) |
missense |
probably damaging |
0.99 |
R0128:Or8k40
|
UTSW |
2 |
86,584,231 (GRCm39) |
missense |
probably benign |
0.39 |
R0130:Or8k40
|
UTSW |
2 |
86,584,231 (GRCm39) |
missense |
probably benign |
0.39 |
R1383:Or8k40
|
UTSW |
2 |
86,584,838 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2100:Or8k40
|
UTSW |
2 |
86,584,905 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2125:Or8k40
|
UTSW |
2 |
86,584,796 (GRCm39) |
missense |
probably benign |
0.00 |
R2126:Or8k40
|
UTSW |
2 |
86,584,796 (GRCm39) |
missense |
probably benign |
0.00 |
R2249:Or8k40
|
UTSW |
2 |
86,584,398 (GRCm39) |
missense |
probably damaging |
0.98 |
R3695:Or8k40
|
UTSW |
2 |
86,584,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R3878:Or8k40
|
UTSW |
2 |
86,584,972 (GRCm39) |
missense |
probably benign |
0.02 |
R3944:Or8k40
|
UTSW |
2 |
86,584,525 (GRCm39) |
missense |
probably benign |
0.17 |
R3975:Or8k40
|
UTSW |
2 |
86,584,887 (GRCm39) |
missense |
probably damaging |
0.99 |
R4387:Or8k40
|
UTSW |
2 |
86,584,464 (GRCm39) |
missense |
probably benign |
0.42 |
R4623:Or8k40
|
UTSW |
2 |
86,584,906 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4740:Or8k40
|
UTSW |
2 |
86,584,155 (GRCm39) |
missense |
probably benign |
0.00 |
R6775:Or8k40
|
UTSW |
2 |
86,584,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R7002:Or8k40
|
UTSW |
2 |
86,585,025 (GRCm39) |
missense |
probably benign |
0.01 |
R7746:Or8k40
|
UTSW |
2 |
86,584,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R8296:Or8k40
|
UTSW |
2 |
86,584,893 (GRCm39) |
missense |
probably damaging |
0.99 |
R9038:Or8k40
|
UTSW |
2 |
86,584,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R9243:Or8k40
|
UTSW |
2 |
86,584,282 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Predicted Primers |
PCR Primer
(F):5'- TATAGATCGACCTCTGTCTGCTTTATG -3'
(R):5'- TCACATGCAGAGGAAATCGC -3'
Sequencing Primer
(F):5'- GACCTCTGTCTGCTTTATGTACCTTC -3'
(R):5'- CATGCAGAGGAAATCGCATTTATTG -3'
|
Posted On |
2015-04-17 |