Incidental Mutation 'R2283:Or2b6'
ID |
243222 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or2b6
|
Ensembl Gene |
ENSMUSG00000036658 |
Gene Name |
olfactory receptor family 2 subfamily B member 6 |
Synonyms |
GA_x6K02T2QHY8-11597382-11598323, MOR256-11, Olfr11 |
MMRRC Submission |
040282-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.350)
|
Stock # |
R2283 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
21822750-21823691 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 21823190 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 168
(R168C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146091
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043081]
[ENSMUST00000205631]
|
AlphaFold |
Q60890 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043081
AA Change: R168C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000043099 Gene: ENSMUSG00000036658 AA Change: R168C
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
311 |
4.9e-51 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
7.3e-27 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205631
AA Change: R168C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
C |
10: 10,253,635 (GRCm39) |
E1235G |
probably damaging |
Het |
Anapc1 |
A |
T |
2: 128,484,468 (GRCm39) |
H1165Q |
probably benign |
Het |
Bhmt |
G |
A |
13: 93,756,809 (GRCm39) |
P273L |
probably damaging |
Het |
Clec18a |
A |
G |
8: 111,802,140 (GRCm39) |
V283A |
probably benign |
Het |
Dlg5 |
G |
A |
14: 24,208,731 (GRCm39) |
P825L |
probably benign |
Het |
Fas |
G |
A |
19: 34,284,649 (GRCm39) |
G52D |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,802,164 (GRCm39) |
I1209T |
probably benign |
Het |
Gpt2 |
T |
A |
8: 86,242,818 (GRCm39) |
D283E |
probably benign |
Het |
Hrh1 |
C |
T |
6: 114,457,400 (GRCm39) |
T227I |
probably benign |
Het |
Kif26a |
T |
C |
12: 112,143,787 (GRCm39) |
F1347S |
possibly damaging |
Het |
Krt1c |
T |
C |
15: 101,722,822 (GRCm39) |
Y392C |
probably damaging |
Het |
Masp2 |
A |
G |
4: 148,690,525 (GRCm39) |
K261E |
probably benign |
Het |
Nav2 |
G |
T |
7: 49,141,152 (GRCm39) |
R899L |
probably damaging |
Het |
Nuggc |
T |
C |
14: 65,876,061 (GRCm39) |
V574A |
possibly damaging |
Het |
Pcsk4 |
T |
C |
10: 80,158,584 (GRCm39) |
E556G |
probably damaging |
Het |
Ppa1 |
G |
A |
10: 61,496,788 (GRCm39) |
W92* |
probably null |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sp3 |
A |
C |
2: 72,801,521 (GRCm39) |
I164S |
possibly damaging |
Het |
St8sia3 |
G |
T |
18: 64,404,801 (GRCm39) |
E359D |
probably damaging |
Het |
Usp17lb |
A |
G |
7: 104,489,859 (GRCm39) |
I355T |
possibly damaging |
Het |
Zfp608 |
T |
A |
18: 55,121,446 (GRCm39) |
K47I |
probably damaging |
Het |
Zfp931 |
A |
G |
2: 177,711,714 (GRCm39) |
V11A |
possibly damaging |
Het |
|
Other mutations in Or2b6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02513:Or2b6
|
APN |
13 |
21,823,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R0513:Or2b6
|
UTSW |
13 |
21,823,119 (GRCm39) |
missense |
probably benign |
0.26 |
R0928:Or2b6
|
UTSW |
13 |
21,823,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R1440:Or2b6
|
UTSW |
13 |
21,823,560 (GRCm39) |
missense |
probably benign |
0.11 |
R1673:Or2b6
|
UTSW |
13 |
21,823,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R1705:Or2b6
|
UTSW |
13 |
21,823,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R2080:Or2b6
|
UTSW |
13 |
21,823,606 (GRCm39) |
missense |
probably damaging |
0.99 |
R2187:Or2b6
|
UTSW |
13 |
21,823,555 (GRCm39) |
missense |
probably damaging |
0.99 |
R2340:Or2b6
|
UTSW |
13 |
21,822,757 (GRCm39) |
missense |
probably benign |
0.03 |
R3690:Or2b6
|
UTSW |
13 |
21,823,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R4108:Or2b6
|
UTSW |
13 |
21,822,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Or2b6
|
UTSW |
13 |
21,823,340 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4740:Or2b6
|
UTSW |
13 |
21,823,340 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5335:Or2b6
|
UTSW |
13 |
21,822,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R5790:Or2b6
|
UTSW |
13 |
21,823,046 (GRCm39) |
missense |
probably benign |
|
R6320:Or2b6
|
UTSW |
13 |
21,823,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R7406:Or2b6
|
UTSW |
13 |
21,823,316 (GRCm39) |
missense |
probably benign |
0.16 |
R7508:Or2b6
|
UTSW |
13 |
21,822,779 (GRCm39) |
missense |
probably benign |
0.19 |
R8054:Or2b6
|
UTSW |
13 |
21,823,119 (GRCm39) |
missense |
probably benign |
0.26 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGCTACAGGTCCCAAACG -3'
(R):5'- ACCGAGTGTGTTCTACTGCC -3'
Sequencing Primer
(F):5'- ATTTTCAAGATGGCACGGGC -3'
(R):5'- AGTGTGTTCTACTGCCAGTCATGTC -3'
|
Posted On |
2014-10-16 |