Incidental Mutation 'IGL03050:Or1ak2'
| ID |
453423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1ak2
|
| Ensembl Gene |
ENSMUSG00000070943 |
| Gene Name |
olfactory receptor family 1 subfamily AK member 2 |
| Synonyms |
Olfr356, GA_x6K02T2NLDC-33631647-33632594, MOR134-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL03050 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
36827133-36828080 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36827635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 168
(F168Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095021]
|
| AlphaFold |
Q8VFP5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095021
AA Change: F168Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092631
Gene: ENSMUSG00000070943
AA Change: F168Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.1e-52 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
4.9e-19 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
95% (41/43) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd2 |
G |
A |
19: 42,028,533 (GRCm39) |
R63H |
probably damaging |
Het |
| Bbs2 |
C |
A |
8: 94,801,041 (GRCm39) |
|
probably benign |
Het |
| Btbd7 |
G |
T |
12: 102,779,065 (GRCm39) |
D400E |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
C |
T |
19: 47,636,537 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,368,085 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
C |
G |
9: 64,962,118 (GRCm39) |
S386C |
probably benign |
Het |
| Dscaml1 |
A |
C |
9: 45,654,297 (GRCm39) |
D1443A |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,372,421 (GRCm39) |
|
probably benign |
Het |
| Elf2 |
C |
T |
3: 51,165,038 (GRCm39) |
R262Q |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,907,896 (GRCm39) |
S2702F |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gabrb1 |
T |
A |
5: 72,279,497 (GRCm39) |
S347R |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,309,604 (GRCm39) |
S615P |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 65,897,027 (GRCm39) |
D291G |
possibly damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mirt1 |
A |
G |
19: 53,433,710 (GRCm39) |
|
noncoding transcript |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mug1 |
T |
A |
6: 121,857,530 (GRCm39) |
S1085T |
possibly damaging |
Het |
| Myo18a |
A |
T |
11: 77,709,596 (GRCm39) |
T190S |
probably benign |
Het |
| Myo5a |
G |
A |
9: 75,054,191 (GRCm39) |
|
probably null |
Het |
| Or1l8 |
A |
T |
2: 36,817,820 (GRCm39) |
M102K |
probably damaging |
Het |
| Or1m1 |
A |
T |
9: 18,666,750 (GRCm39) |
Y60* |
probably null |
Het |
| Or5an1 |
G |
T |
19: 12,260,876 (GRCm39) |
V155L |
probably benign |
Het |
| Or9g3 |
A |
G |
2: 85,589,785 (GRCm39) |
*312Q |
probably null |
Het |
| Relch |
T |
A |
1: 105,654,106 (GRCm39) |
V825E |
probably damaging |
Het |
| Rgma |
G |
A |
7: 73,067,263 (GRCm39) |
V173M |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,701,422 (GRCm39) |
S379F |
possibly damaging |
Het |
| Sec16a |
T |
A |
2: 26,305,759 (GRCm39) |
D2215V |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
| Ttyh2 |
T |
A |
11: 114,599,680 (GRCm39) |
L370Q |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,669,139 (GRCm39) |
R322G |
possibly damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,900 (GRCm39) |
M718T |
possibly damaging |
Het |
| Zhx2 |
T |
C |
15: 57,686,229 (GRCm39) |
F533L |
possibly damaging |
Het |
|
| Other mutations in Or1ak2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02209:Or1ak2
|
APN |
2 |
36,827,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02457:Or1ak2
|
APN |
2 |
36,827,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02933:Or1ak2
|
APN |
2 |
36,827,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03304:Or1ak2
|
APN |
2 |
36,827,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03350:Or1ak2
|
APN |
2 |
36,827,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0124:Or1ak2
|
UTSW |
2 |
36,827,268 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1447:Or1ak2
|
UTSW |
2 |
36,827,788 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1591:Or1ak2
|
UTSW |
2 |
36,827,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1651:Or1ak2
|
UTSW |
2 |
36,827,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1689:Or1ak2
|
UTSW |
2 |
36,827,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1876:Or1ak2
|
UTSW |
2 |
36,827,775 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2132:Or1ak2
|
UTSW |
2 |
36,827,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2308:Or1ak2
|
UTSW |
2 |
36,827,312 (GRCm39) |
nonsense |
probably null |
|
|
R3004:Or1ak2
|
UTSW |
2 |
36,827,221 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4180:Or1ak2
|
UTSW |
2 |
36,827,242 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4445:Or1ak2
|
UTSW |
2 |
36,827,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5096:Or1ak2
|
UTSW |
2 |
36,827,815 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5971:Or1ak2
|
UTSW |
2 |
36,827,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5988:Or1ak2
|
UTSW |
2 |
36,827,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6138:Or1ak2
|
UTSW |
2 |
36,827,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6544:Or1ak2
|
UTSW |
2 |
36,827,539 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7206:Or1ak2
|
UTSW |
2 |
36,827,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Or1ak2
|
UTSW |
2 |
36,827,630 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7854:Or1ak2
|
UTSW |
2 |
36,828,036 (GRCm39) |
missense |
probably benign |
|
|
R8110:Or1ak2
|
UTSW |
2 |
36,827,721 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9088:Or1ak2
|
UTSW |
2 |
36,827,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9223:Or1ak2
|
UTSW |
2 |
36,827,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Or1ak2
|
UTSW |
2 |
36,827,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
U15987:Or1ak2
|
UTSW |
2 |
36,827,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGCTGGATGCCTGTCTCAAATC -3'
(R):5'- CTCACAATGGTGGCCACAATG -3'
Sequencing Primer
(F):5'- CATTGGACTAGATGTTTTCCTCCTGG -3'
(R):5'- TGGCCACAATGCGGACATATG -3'
|
| Posted On |
2017-02-08 |
Incidental Mutation