Incidental Mutation 'IGL03310:Or52a5'
| ID |
416517 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52a5
|
| Ensembl Gene |
ENSMUSG00000061626 |
| Gene Name |
olfactory receptor family 52 subfamily A member 5 |
| Synonyms |
Olfr68, MOR22-3, GA_x6K02T2PBJ9-6504436-6503489, 3'[b]2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL03310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103426603-103427550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 103426634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 306
(V306G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072513]
[ENSMUST00000216811]
|
| AlphaFold |
E9PYY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072513
AA Change: V306G
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000072329
Gene: ENSMUSG00000061626
AA Change: V306G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
313 |
3e-101 |
PFAM |
|
Pfam:7TM_GPCR_Srx
|
34 |
237 |
4.5e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
264 |
1.7e-6 |
PFAM |
|
Pfam:7tm_1
|
43 |
295 |
2.3e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216811
AA Change: V306G
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
C |
T |
9: 70,685,371 (GRCm39) |
R749C |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,481,879 (GRCm39) |
F872L |
probably damaging |
Het |
| Cacna1e |
A |
C |
1: 154,317,997 (GRCm39) |
Y1462D |
probably damaging |
Het |
| Ccna1 |
T |
C |
3: 54,958,041 (GRCm39) |
T7A |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,901,816 (GRCm39) |
|
probably benign |
Het |
| Cmtm8 |
A |
T |
9: 114,619,794 (GRCm39) |
V117D |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,462,308 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,019,744 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
T |
C |
1: 17,815,701 (GRCm39) |
|
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,275,534 (GRCm39) |
N140K |
probably benign |
Het |
| Fktn |
A |
T |
4: 53,720,120 (GRCm39) |
K6* |
probably null |
Het |
| Fryl |
C |
A |
5: 73,293,659 (GRCm39) |
|
probably benign |
Het |
| Gm5117 |
T |
A |
8: 32,228,836 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2c |
A |
C |
6: 136,728,044 (GRCm39) |
S319R |
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,873,597 (GRCm39) |
A2299V |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,411 (GRCm39) |
S2061P |
probably damaging |
Het |
| Irx4 |
A |
G |
13: 73,415,850 (GRCm39) |
N213S |
possibly damaging |
Het |
| Mark3 |
A |
G |
12: 111,614,104 (GRCm39) |
T649A |
probably benign |
Het |
| Nav3 |
C |
T |
10: 109,660,433 (GRCm39) |
|
probably null |
Het |
| Npr1 |
C |
T |
3: 90,363,298 (GRCm39) |
E861K |
probably benign |
Het |
| Or5a3 |
T |
C |
19: 12,400,291 (GRCm39) |
V206A |
probably benign |
Het |
| Pcdhb10 |
C |
T |
18: 37,545,374 (GRCm39) |
T150I |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,684,151 (GRCm39) |
C2009R |
possibly damaging |
Het |
| Trgv7 |
A |
G |
13: 19,362,664 (GRCm39) |
|
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,652,409 (GRCm39) |
|
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,165,896 (GRCm39) |
Y230F |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,694,898 (GRCm39) |
I1678N |
probably damaging |
Het |
|
| Other mutations in Or52a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Or52a5
|
APN |
7 |
103,427,448 (GRCm39) |
missense |
probably benign |
|
|
R0135:Or52a5
|
UTSW |
7 |
103,426,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0462:Or52a5
|
UTSW |
7 |
103,426,770 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0966:Or52a5
|
UTSW |
7 |
103,426,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1199:Or52a5
|
UTSW |
7 |
103,427,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1288:Or52a5
|
UTSW |
7 |
103,427,249 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1597:Or52a5
|
UTSW |
7 |
103,427,267 (GRCm39) |
missense |
probably benign |
|
|
R4631:Or52a5
|
UTSW |
7 |
103,426,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Or52a5
|
UTSW |
7 |
103,426,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5184:Or52a5
|
UTSW |
7 |
103,426,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5654:Or52a5
|
UTSW |
7 |
103,427,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7994:Or52a5
|
UTSW |
7 |
103,426,607 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8026:Or52a5
|
UTSW |
7 |
103,427,547 (GRCm39) |
missense |
probably benign |
|
|
R8190:Or52a5
|
UTSW |
7 |
103,426,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8502:Or52a5
|
UTSW |
7 |
103,426,968 (GRCm39) |
missense |
probably benign |
|
|
R8815:Or52a5
|
UTSW |
7 |
103,427,063 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2016-08-02 |
Incidental Mutation