Incidental Mutation 'R3027:Or6aa1'
| ID |
265852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6aa1
|
| Ensembl Gene |
ENSMUSG00000039608 |
| Gene Name |
olfactory receptor family 6 subfamily AA member 1 |
| Synonyms |
MOR104-2, Olfr303, GA_x6K02T2NHDJ-9712819-9713778 |
| MMRRC Submission |
040543-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R3027 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
86043704-86044743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86043761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 315
(N315S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053958]
[ENSMUST00000215234]
[ENSMUST00000215532]
[ENSMUST00000215733]
[ENSMUST00000216409]
|
| AlphaFold |
Q8VFP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053958
AA Change: N315S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000062459
Gene: ENSMUSG00000039608
AA Change: N315S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.2e-52 |
PFAM |
|
Pfam:7tm_1
|
41 |
307 |
4.9e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215234
AA Change: N315S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215532
AA Change: N315S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215733
AA Change: N315S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216409
AA Change: N315S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (33/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
C |
5: 62,827,240 (GRCm39) |
T993A |
probably damaging |
Het |
| Arhgap18 |
G |
A |
10: 26,722,092 (GRCm39) |
G21D |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,729,396 (GRCm39) |
C84* |
probably null |
Het |
| Dnmt3a |
T |
A |
12: 3,899,626 (GRCm39) |
|
probably null |
Het |
| Etaa1 |
T |
C |
11: 17,897,886 (GRCm39) |
D146G |
probably damaging |
Het |
| Fam227a |
T |
C |
15: 79,532,934 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 34,977,439 (GRCm39) |
I775N |
possibly damaging |
Het |
| Itgax |
C |
A |
7: 127,747,744 (GRCm39) |
Y1053* |
probably null |
Het |
| Kif21a |
T |
A |
15: 90,856,845 (GRCm39) |
N583Y |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,760,283 (GRCm39) |
E2995V |
probably benign |
Het |
| Or1ad8 |
G |
A |
11: 50,897,879 (GRCm39) |
V27M |
possibly damaging |
Het |
| Or5h22 |
C |
T |
16: 58,895,330 (GRCm39) |
V38I |
probably benign |
Het |
| Or8k39 |
C |
T |
2: 86,563,930 (GRCm39) |
V9M |
possibly damaging |
Het |
| Otos |
A |
T |
1: 92,572,076 (GRCm39) |
H83Q |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,321,747 (GRCm39) |
M96T |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,016,196 (GRCm39) |
S1680T |
possibly damaging |
Het |
| Rad50 |
A |
G |
11: 53,586,208 (GRCm39) |
S263P |
probably benign |
Het |
| Resf1 |
T |
C |
6: 149,230,533 (GRCm39) |
L1193P |
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,123,088 (GRCm39) |
S339G |
probably damaging |
Het |
| Schip1 |
G |
A |
3: 68,401,943 (GRCm39) |
A7T |
probably damaging |
Het |
| Shkbp1 |
A |
C |
7: 27,042,818 (GRCm39) |
S540A |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Socs1 |
T |
C |
16: 10,602,578 (GRCm39) |
D53G |
possibly damaging |
Het |
| Spag9 |
G |
T |
11: 93,977,203 (GRCm39) |
R103L |
probably null |
Het |
| Spc24 |
AGAGGTAGTCACTGA |
AGA |
9: 21,667,511 (GRCm39) |
|
probably null |
Het |
| Spo11 |
T |
C |
2: 172,827,736 (GRCm39) |
Y146H |
probably damaging |
Het |
| Tmem25 |
T |
C |
9: 44,709,511 (GRCm39) |
|
probably null |
Het |
| Ttyh1 |
A |
G |
7: 4,122,721 (GRCm39) |
D23G |
probably benign |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zfp513 |
A |
G |
5: 31,356,673 (GRCm39) |
S540P |
possibly damaging |
Het |
| Zfp808 |
A |
T |
13: 62,319,404 (GRCm39) |
H211L |
probably benign |
Het |
|
| Other mutations in Or6aa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02228:Or6aa1
|
APN |
7 |
86,044,286 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02902:Or6aa1
|
APN |
7 |
86,043,743 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02937:Or6aa1
|
APN |
7 |
86,043,798 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
BB001:Or6aa1
|
UTSW |
7 |
86,043,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB011:Or6aa1
|
UTSW |
7 |
86,043,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1455:Or6aa1
|
UTSW |
7 |
86,043,803 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1524:Or6aa1
|
UTSW |
7 |
86,044,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1762:Or6aa1
|
UTSW |
7 |
86,044,353 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3014:Or6aa1
|
UTSW |
7 |
86,043,884 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4073:Or6aa1
|
UTSW |
7 |
86,044,155 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4502:Or6aa1
|
UTSW |
7 |
86,044,485 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4503:Or6aa1
|
UTSW |
7 |
86,044,485 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4607:Or6aa1
|
UTSW |
7 |
86,043,718 (GRCm39) |
splice site |
probably null |
|
|
R4608:Or6aa1
|
UTSW |
7 |
86,043,718 (GRCm39) |
splice site |
probably null |
|
|
R7134:Or6aa1
|
UTSW |
7 |
86,044,752 (GRCm39) |
start gained |
probably benign |
|
|
R7298:Or6aa1
|
UTSW |
7 |
86,044,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7827:Or6aa1
|
UTSW |
7 |
86,043,765 (GRCm39) |
nonsense |
probably null |
|
|
R7924:Or6aa1
|
UTSW |
7 |
86,043,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8160:Or6aa1
|
UTSW |
7 |
86,044,473 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8294:Or6aa1
|
UTSW |
7 |
86,044,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9465:Or6aa1
|
UTSW |
7 |
86,043,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9725:Or6aa1
|
UTSW |
7 |
86,043,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGTGAGCCTGCTTGTAAG -3'
(R):5'- AAAACATTCTCAACTTGTGCCTCC -3'
Sequencing Primer
(F):5'- AGCCTGCTTGTAAGAGTCTAATG -3'
(R):5'- ATGGCACCATAATCTTTGCCTATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation