Incidental Mutation 'R2340:Or2b6'
| ID |
246722 |
| 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 |
040326-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
R2340 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
21822750-21823691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21822757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 312
(K312R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043081]
[ENSMUST00000205631]
|
| AlphaFold |
Q60890 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043081
AA Change: K312R
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000043099
Gene: ENSMUSG00000036658
AA Change: K312R
| 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 benign
Transcript: ENSMUST00000205631
AA Change: K312R
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| Meta Mutation Damage Score |
0.0722 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (37/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,349,165 (GRCm39) |
I3580F |
probably damaging |
Het |
| B3glct |
A |
G |
5: 149,668,905 (GRCm39) |
K280E |
probably benign |
Het |
| Chd6 |
TG |
T |
2: 160,807,679 (GRCm39) |
|
probably null |
Het |
| Clu |
T |
C |
14: 66,218,358 (GRCm39) |
V406A |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,490,741 (GRCm39) |
K114E |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,400,945 (GRCm39) |
D149E |
probably damaging |
Het |
| Entrep2 |
A |
G |
7: 64,425,565 (GRCm39) |
S176P |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,160,922 (GRCm39) |
D3269E |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,591,187 (GRCm39) |
D69G |
probably damaging |
Het |
| Hacd1 |
G |
T |
2: 14,040,698 (GRCm39) |
P186T |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Kif2c |
A |
G |
4: 117,027,038 (GRCm39) |
V320A |
probably damaging |
Het |
| Lypd2 |
T |
A |
15: 74,606,103 (GRCm39) |
I12L |
probably benign |
Het |
| Midn |
G |
T |
10: 79,985,946 (GRCm39) |
R12L |
possibly damaging |
Het |
| Or8g34 |
A |
G |
9: 39,373,105 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or9q2 |
A |
G |
19: 13,772,135 (GRCm39) |
V280A |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,271,079 (GRCm39) |
V3158E |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rad51d |
T |
C |
11: 82,772,647 (GRCm39) |
D206G |
probably damaging |
Het |
| Rcan1 |
A |
G |
16: 92,194,240 (GRCm39) |
F58L |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,422,205 (GRCm39) |
I96T |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,066,089 (GRCm39) |
F500I |
probably damaging |
Het |
| Rph3al |
T |
C |
11: 75,724,258 (GRCm39) |
T282A |
probably benign |
Het |
| Serpina11 |
T |
C |
12: 103,951,002 (GRCm39) |
R240G |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,033,122 (GRCm39) |
I400N |
probably benign |
Het |
| Slco1a4 |
C |
A |
6: 141,787,103 (GRCm39) |
C28F |
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,184,174 (GRCm39) |
I134N |
probably damaging |
Het |
| Spock3 |
T |
A |
8: 63,798,747 (GRCm39) |
M253K |
probably damaging |
Het |
| Tmem184b |
T |
A |
15: 79,262,732 (GRCm39) |
M42L |
probably benign |
Het |
| Tnnt1 |
G |
A |
7: 4,516,615 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,938,922 (GRCm39) |
S407T |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfat |
T |
C |
15: 67,973,390 (GRCm39) |
E1117G |
probably damaging |
Het |
| Zfp606 |
A |
G |
7: 12,227,016 (GRCm39) |
E321G |
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 |
|
R2283:Or2b6
|
UTSW |
13 |
21,823,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCTCAGGAATAAGGCTAGTTCAG -3'
(R):5'- TGGTACAGCTCTCTCCGTGTAC -3'
Sequencing Primer
(F):5'- GGCTAGTTCAGTGTTTTCAACAAC -3'
(R):5'- GTGTACTTTCTACCACCATCACCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation