Incidental Mutation 'R4547:Or2t6'
| ID |
333836 |
| 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 |
041781-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.286)
|
| Stock # |
R4547 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
8293683-8294633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14175854 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 76
(I76N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035250]
[ENSMUST00000206298]
[ENSMUST00000216079]
[ENSMUST00000217642]
|
| AlphaFold |
Q8VF37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035250
AA Change: I76N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046509
Gene: ENSMUSG00000052417
AA Change: I76N
| 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 |
probably damaging
Transcript: ENSMUST00000206298
AA Change: I76N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216079
AA Change: I76N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217642
AA Change: I76N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.3171 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
96% (55/57) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
G |
T |
14: 54,883,124 (GRCm39) |
A909E |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,913,357 (GRCm39) |
E23G |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,817,032 (GRCm39) |
R148G |
probably null |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Aspm |
T |
C |
1: 139,405,925 (GRCm39) |
V1604A |
possibly damaging |
Het |
| Cdh1 |
C |
A |
8: 107,390,535 (GRCm39) |
T625K |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
| Cfhr3 |
T |
G |
1: 139,512,651 (GRCm39) |
|
noncoding transcript |
Het |
| Csmd1 |
T |
C |
8: 16,441,811 (GRCm39) |
D351G |
possibly damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,169,388 (GRCm39) |
D404E |
probably benign |
Het |
| Dpm1 |
A |
G |
2: 168,065,073 (GRCm39) |
L88P |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 39,005,432 (GRCm39) |
F1944L |
probably damaging |
Het |
| Frmd4a |
C |
A |
2: 4,477,956 (GRCm39) |
L46I |
probably damaging |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,548,651 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Klb |
T |
A |
5: 65,537,271 (GRCm39) |
V867E |
probably benign |
Het |
| Lnpk |
C |
G |
2: 74,352,630 (GRCm39) |
E351Q |
probably benign |
Het |
| Mettl25 |
T |
C |
10: 105,661,878 (GRCm39) |
D364G |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,227,467 (GRCm39) |
V567I |
probably benign |
Het |
| Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
| Naaa |
C |
T |
5: 92,411,445 (GRCm39) |
|
probably null |
Het |
| Ncdn |
A |
G |
4: 126,640,467 (GRCm39) |
F542S |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,036,291 (GRCm39) |
N715D |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,382,968 (GRCm39) |
|
probably benign |
Het |
| Or10ag57 |
G |
A |
2: 87,218,504 (GRCm39) |
V152I |
probably benign |
Het |
| Psg25 |
A |
G |
7: 18,258,629 (GRCm39) |
L349P |
probably damaging |
Het |
| Rnf213 |
G |
T |
11: 119,370,496 (GRCm39) |
|
probably null |
Het |
| Scara5 |
A |
C |
14: 65,908,023 (GRCm39) |
K4N |
possibly damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,500,119 (GRCm39) |
L211S |
probably benign |
Het |
| Slc44a4 |
T |
A |
17: 35,146,731 (GRCm39) |
F285I |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,361,625 (GRCm39) |
V398A |
possibly damaging |
Het |
| Smc2 |
T |
C |
4: 52,467,866 (GRCm39) |
S737P |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,785,170 (GRCm39) |
I229V |
possibly damaging |
Het |
| Tac1 |
A |
G |
6: 7,557,216 (GRCm39) |
D74G |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,490,771 (GRCm39) |
V607A |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,837,564 (GRCm39) |
V582A |
possibly damaging |
Het |
| Traf4 |
A |
G |
11: 78,051,863 (GRCm39) |
I207T |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,819,068 (GRCm39) |
R449G |
possibly damaging |
Het |
| Ubn1 |
G |
A |
16: 4,889,956 (GRCm39) |
R407H |
probably damaging |
Het |
| Vmn1r19 |
C |
T |
6: 57,381,774 (GRCm39) |
T109I |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,087 (GRCm39) |
T100A |
probably null |
Het |
| Vsig8 |
A |
T |
1: 172,388,163 (GRCm39) |
M44L |
probably benign |
Het |
| Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
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 |
|
R1225:Or2t6
|
UTSW |
14 |
14,175,600 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
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 |
|
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'- CCGACTCATGAGGACAGGATAAC -3'
(R):5'- TGGAAACAAAACCTTTCCCAGTG -3'
Sequencing Primer
(F):5'- CGGAGCGGATTACAGATGGC -3'
(R):5'- GTGGGACTCTTTACTCACAACAAAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation