Incidental Mutation 'R1225:Or2t6'
ID |
152881 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or2t6
|
Ensembl Gene |
ENSMUSG00000052417 |
Gene Name |
olfactory receptor family 2 subfamily T member 6 |
Synonyms |
Olfr720, MOR274-2, GA_x6K02T2PLTE-6544896-6543946 |
MMRRC Submission |
039294-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.286)
|
Stock # |
R1225 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
8293683-8294633 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 14175600 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 161
(I161F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035250]
[ENSMUST00000206298]
[ENSMUST00000216079]
[ENSMUST00000217642]
|
AlphaFold |
Q8VF37 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035250
AA Change: I161F
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000046509 Gene: ENSMUSG00000052417 AA Change: I161F
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
30 |
307 |
8.4e-49 |
PFAM |
Pfam:7tm_1
|
40 |
289 |
8.9e-25 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206298
AA Change: I161F
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216079
AA Change: I161F
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217642
AA Change: I161F
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.1010 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
100% (43/43) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730013G03Rik |
T |
A |
1: 192,515,953 (GRCm39) |
|
noncoding transcript |
Het |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,980,247 (GRCm39) |
D510E |
probably damaging |
Het |
Angptl4 |
C |
T |
17: 34,000,165 (GRCm39) |
A68T |
possibly damaging |
Het |
Arid1a |
A |
G |
4: 133,414,676 (GRCm39) |
V1185A |
unknown |
Het |
Atp2c2 |
C |
A |
8: 120,461,984 (GRCm39) |
Q286K |
probably damaging |
Het |
Blzf1 |
T |
C |
1: 164,127,165 (GRCm39) |
E209G |
probably damaging |
Het |
Bmp6 |
A |
G |
13: 38,530,257 (GRCm39) |
T117A |
probably benign |
Het |
Cmip |
T |
C |
8: 118,172,110 (GRCm39) |
F394L |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,739,238 (GRCm39) |
D330V |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,944,820 (GRCm39) |
S491R |
probably benign |
Het |
Dedd |
G |
A |
1: 171,167,863 (GRCm39) |
|
probably null |
Het |
Dennd4a |
A |
G |
9: 64,818,957 (GRCm39) |
H1704R |
probably benign |
Het |
Dicer1 |
C |
T |
12: 104,657,866 (GRCm39) |
V1903I |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,761,886 (GRCm39) |
V3868A |
possibly damaging |
Het |
Eif5b |
A |
G |
1: 38,076,709 (GRCm39) |
I674V |
probably damaging |
Het |
F13a1 |
T |
C |
13: 37,209,825 (GRCm39) |
N47D |
probably benign |
Het |
Fancd2 |
T |
C |
6: 113,512,822 (GRCm39) |
S53P |
probably damaging |
Het |
Fsip1 |
C |
A |
2: 118,078,831 (GRCm39) |
L170F |
probably damaging |
Het |
Git2 |
A |
T |
5: 114,871,239 (GRCm39) |
|
probably benign |
Het |
Gm9742 |
T |
C |
13: 8,079,875 (GRCm39) |
|
noncoding transcript |
Het |
Heatr4 |
C |
T |
12: 84,024,820 (GRCm39) |
E334K |
probably benign |
Het |
Hoga1 |
T |
G |
19: 42,058,628 (GRCm39) |
V110G |
probably damaging |
Het |
Ighv6-4 |
T |
A |
12: 114,370,170 (GRCm39) |
D75V |
probably damaging |
Het |
Inhca |
A |
T |
9: 103,132,038 (GRCm39) |
|
probably benign |
Het |
Med15 |
G |
T |
16: 17,540,652 (GRCm39) |
S31R |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,461,954 (GRCm39) |
E1467G |
probably damaging |
Het |
Or2ag1 |
A |
T |
7: 106,313,731 (GRCm39) |
D52E |
probably benign |
Het |
Or5ac19 |
T |
C |
16: 59,089,587 (GRCm39) |
T148A |
probably benign |
Het |
Papss1 |
T |
C |
3: 131,285,062 (GRCm39) |
|
probably benign |
Het |
Pde4d |
A |
T |
13: 110,086,755 (GRCm39) |
M610L |
probably benign |
Het |
Prickle4 |
T |
G |
17: 47,999,614 (GRCm39) |
|
probably null |
Het |
Sema3g |
A |
G |
14: 30,942,636 (GRCm39) |
Y79C |
probably damaging |
Het |
Setbp1 |
T |
A |
18: 78,901,423 (GRCm39) |
D748V |
probably damaging |
Het |
Slc46a2 |
A |
T |
4: 59,914,125 (GRCm39) |
V266E |
probably benign |
Het |
Slc9a8 |
T |
C |
2: 167,313,443 (GRCm39) |
I435T |
probably benign |
Het |
Snx29 |
T |
C |
16: 11,238,550 (GRCm39) |
|
probably benign |
Het |
Son |
C |
T |
16: 91,454,228 (GRCm39) |
R992C |
probably damaging |
Het |
Stxbp5 |
T |
C |
10: 9,688,135 (GRCm39) |
N389D |
possibly damaging |
Het |
Vmn1r28 |
C |
T |
6: 58,242,951 (GRCm39) |
Q265* |
probably null |
Het |
|
Other mutations in Or2t6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02658:Or2t6
|
APN |
14 |
14,175,732 (GRCm38) |
missense |
possibly damaging |
0.92 |
IGL02704:Or2t6
|
APN |
14 |
14,175,483 (GRCm38) |
missense |
probably benign |
0.00 |
IGL03308:Or2t6
|
APN |
14 |
14,175,161 (GRCm38) |
missense |
probably benign |
|
IGL03331:Or2t6
|
APN |
14 |
14,176,017 (GRCm38) |
missense |
probably benign |
0.16 |
R0008:Or2t6
|
UTSW |
14 |
14,176,092 (GRCm38) |
start gained |
probably benign |
|
R0131:Or2t6
|
UTSW |
14 |
14,175,620 (GRCm38) |
missense |
probably benign |
0.03 |
R0647:Or2t6
|
UTSW |
14 |
14,175,858 (GRCm38) |
missense |
probably benign |
0.35 |
R0747:Or2t6
|
UTSW |
14 |
14,175,429 (GRCm38) |
missense |
probably benign |
0.01 |
R1210:Or2t6
|
UTSW |
14 |
14,176,029 (GRCm38) |
missense |
probably benign |
0.00 |
R1525:Or2t6
|
UTSW |
14 |
14,175,725 (GRCm38) |
missense |
probably damaging |
1.00 |
R1975:Or2t6
|
UTSW |
14 |
14,175,446 (GRCm38) |
missense |
probably damaging |
1.00 |
R1994:Or2t6
|
UTSW |
14 |
14,175,854 (GRCm38) |
missense |
probably benign |
0.16 |
R2310:Or2t6
|
UTSW |
14 |
14,175,836 (GRCm38) |
missense |
probably benign |
0.03 |
R3151:Or2t6
|
UTSW |
14 |
14,175,203 (GRCm38) |
missense |
probably damaging |
1.00 |
R4547:Or2t6
|
UTSW |
14 |
14,175,854 (GRCm38) |
missense |
probably damaging |
0.99 |
R4824:Or2t6
|
UTSW |
14 |
14,175,885 (GRCm38) |
missense |
probably damaging |
1.00 |
R5063:Or2t6
|
UTSW |
14 |
14,175,593 (GRCm38) |
missense |
probably damaging |
1.00 |
R5098:Or2t6
|
UTSW |
14 |
14,175,683 (GRCm38) |
missense |
probably benign |
0.03 |
R5430:Or2t6
|
UTSW |
14 |
14,175,692 (GRCm38) |
missense |
probably benign |
0.03 |
R5512:Or2t6
|
UTSW |
14 |
14,175,633 (GRCm38) |
missense |
probably damaging |
1.00 |
R5748:Or2t6
|
UTSW |
14 |
14,175,314 (GRCm38) |
missense |
probably damaging |
1.00 |
R7200:Or2t6
|
UTSW |
14 |
14,175,477 (GRCm38) |
missense |
probably damaging |
1.00 |
R7407:Or2t6
|
UTSW |
14 |
14,175,402 (GRCm38) |
missense |
probably benign |
|
R7666:Or2t6
|
UTSW |
14 |
14,176,075 (GRCm38) |
missense |
probably benign |
|
R7760:Or2t6
|
UTSW |
14 |
14,175,905 (GRCm38) |
missense |
probably damaging |
1.00 |
R8118:Or2t6
|
UTSW |
14 |
14,175,863 (GRCm38) |
missense |
probably damaging |
1.00 |
R8413:Or2t6
|
UTSW |
14 |
14,175,416 (GRCm38) |
missense |
probably benign |
0.00 |
R8873:Or2t6
|
UTSW |
14 |
14,175,344 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTGGCAAAAGCCTTCTTCCTC -3'
(R):5'- CCAGTGACTTCACCTTTGTGGGAC -3'
Sequencing Primer
(F):5'- CTGTGACCAGTATCTGGGCATAAG -3'
(R):5'- AAAGCCTCAGGATTCCTGTTCAG -3'
|
Posted On |
2014-01-29 |