Incidental Mutation 'IGL03310:Or5a3'
| ID |
416513 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5a3
|
| Ensembl Gene |
ENSMUSG00000050815 |
| Gene Name |
olfactory receptor family 5 subfamily A member 3 |
| Synonyms |
MOR215-2, GA_x6K02T2RE5P-2753221-2754177, Olfr1441 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
IGL03310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
12399675-12400631 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12400291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 206
(V206A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059033]
[ENSMUST00000168148]
[ENSMUST00000214153]
[ENSMUST00000216506]
|
| AlphaFold |
Q8VFV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059033
AA Change: V206A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000061963
Gene: ENSMUSG00000050815
AA Change: V206A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
2.7e-52 |
PFAM |
|
Pfam:7tm_1
|
42 |
313 |
5e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168148
|
| SMART Domains |
Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
MACPF
|
144 |
343 |
6.26e-33 |
SMART |
|
transmembrane domain
|
643 |
665 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214153
AA Change: V206A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216506
AA Change: V206A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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 |
| Or52a5 |
A |
C |
7: 103,426,634 (GRCm39) |
V306G |
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 Or5a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01446:Or5a3
|
APN |
19 |
12,400,165 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01653:Or5a3
|
APN |
19 |
12,399,736 (GRCm39) |
missense |
probably benign |
|
|
IGL01667:Or5a3
|
APN |
19 |
12,400,120 (GRCm39) |
missense |
probably benign |
|
|
IGL01903:Or5a3
|
APN |
19 |
12,400,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02547:Or5a3
|
APN |
19 |
12,399,675 (GRCm39) |
start codon destroyed |
probably benign |
0.38 |
|
IGL02571:Or5a3
|
APN |
19 |
12,400,250 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0539:Or5a3
|
UTSW |
19 |
12,400,173 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0918:Or5a3
|
UTSW |
19 |
12,400,599 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1463:Or5a3
|
UTSW |
19 |
12,400,252 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4301:Or5a3
|
UTSW |
19 |
12,400,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4785:Or5a3
|
UTSW |
19 |
12,400,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5513:Or5a3
|
UTSW |
19 |
12,400,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6188:Or5a3
|
UTSW |
19 |
12,399,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6411:Or5a3
|
UTSW |
19 |
12,400,350 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6625:Or5a3
|
UTSW |
19 |
12,400,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Or5a3
|
UTSW |
19 |
12,400,628 (GRCm39) |
missense |
probably benign |
|
|
R7425:Or5a3
|
UTSW |
19 |
12,400,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7465:Or5a3
|
UTSW |
19 |
12,400,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9400:Or5a3
|
UTSW |
19 |
12,400,274 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9427:Or5a3
|
UTSW |
19 |
12,399,889 (GRCm39) |
missense |
|
|
|
| Posted On |
2016-08-02 |
Incidental Mutation