Incidental Mutation 'IGL01863:Or5ae2'
ID |
178422 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or5ae2
|
Ensembl Gene |
ENSMUSG00000070460 |
Gene Name |
olfactory receptor family 5 subfamily AE member 2 |
Synonyms |
GA_x6K02T2NHDJ-11231385-11230438, Olfr291, MOR254-2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
IGL01863
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
84502779-84506526 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84505619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 14
(L14P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150934
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000211582]
[ENSMUST00000217039]
|
AlphaFold |
no structure available at present |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000077303 Gene: ENSMUSG00000070460 AA Change: L14P
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
33 |
311 |
3e-54 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
37 |
270 |
1.5e-10 |
PFAM |
Pfam:7tm_1
|
43 |
293 |
1.9e-30 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211582
AA Change: L16P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217039
AA Change: L14P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
T |
A |
10: 42,215,907 (GRCm39) |
I326F |
possibly damaging |
Het |
Aimp1 |
T |
C |
3: 132,377,853 (GRCm39) |
T171A |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,892,813 (GRCm39) |
L1564* |
probably null |
Het |
Atp1a1 |
G |
T |
3: 101,499,205 (GRCm39) |
Y131* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,301,338 (GRCm39) |
E2686G |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 72,743,770 (GRCm39) |
V395A |
possibly damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,268,823 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,387,088 (GRCm39) |
Q713R |
probably benign |
Het |
Esf1 |
A |
T |
2: 139,962,599 (GRCm39) |
M824K |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,024,768 (GRCm39) |
|
probably benign |
Het |
Gem |
A |
G |
4: 11,705,980 (GRCm39) |
I23V |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,744 (GRCm39) |
E779G |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,552,993 (GRCm39) |
|
probably benign |
Het |
Lipi |
A |
C |
16: 75,347,114 (GRCm39) |
I435R |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,222,617 (GRCm39) |
T551A |
probably damaging |
Het |
Omg |
C |
T |
11: 79,393,050 (GRCm39) |
M269I |
probably benign |
Het |
Optn |
A |
T |
2: 5,026,298 (GRCm39) |
|
probably benign |
Het |
Pex1 |
A |
G |
5: 3,656,066 (GRCm39) |
T298A |
probably benign |
Het |
Rab27b |
T |
A |
18: 70,122,625 (GRCm39) |
R111S |
probably damaging |
Het |
Rhbdf1 |
T |
G |
11: 32,163,484 (GRCm39) |
E329D |
probably benign |
Het |
Slc2a13 |
T |
C |
15: 91,400,695 (GRCm39) |
I176V |
probably benign |
Het |
Slc30a1 |
T |
A |
1: 191,641,196 (GRCm39) |
C281S |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,762,430 (GRCm38) |
C509S |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,872,151 (GRCm39) |
R862G |
probably benign |
Het |
Tbc1d2 |
A |
G |
4: 46,607,064 (GRCm39) |
I782T |
possibly damaging |
Het |
Tent5c |
C |
T |
3: 100,379,980 (GRCm39) |
D259N |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps33b |
T |
C |
7: 79,924,059 (GRCm39) |
|
probably null |
Het |
Wrap73 |
A |
G |
4: 154,229,790 (GRCm39) |
I54V |
probably benign |
Het |
|
Other mutations in Or5ae2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02643:Or5ae2
|
APN |
7 |
84,506,239 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02928:Or5ae2
|
APN |
7 |
84,506,273 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03124:Or5ae2
|
APN |
7 |
84,505,931 (GRCm39) |
missense |
probably damaging |
0.99 |
R0129:Or5ae2
|
UTSW |
7 |
84,506,196 (GRCm39) |
missense |
probably benign |
|
R0605:Or5ae2
|
UTSW |
7 |
84,506,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R1085:Or5ae2
|
UTSW |
7 |
84,505,987 (GRCm39) |
missense |
probably benign |
0.05 |
R1477:Or5ae2
|
UTSW |
7 |
84,506,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R1834:Or5ae2
|
UTSW |
7 |
84,505,690 (GRCm39) |
missense |
probably damaging |
0.99 |
R1839:Or5ae2
|
UTSW |
7 |
84,505,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R2036:Or5ae2
|
UTSW |
7 |
84,505,566 (GRCm39) |
start gained |
probably benign |
|
R4214:Or5ae2
|
UTSW |
7 |
84,506,497 (GRCm39) |
missense |
probably benign |
|
R4386:Or5ae2
|
UTSW |
7 |
84,505,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R4679:Or5ae2
|
UTSW |
7 |
84,506,112 (GRCm39) |
nonsense |
probably null |
|
R4789:Or5ae2
|
UTSW |
7 |
84,506,509 (GRCm39) |
missense |
probably benign |
0.09 |
R4841:Or5ae2
|
UTSW |
7 |
84,506,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R5011:Or5ae2
|
UTSW |
7 |
84,505,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R5013:Or5ae2
|
UTSW |
7 |
84,505,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R6127:Or5ae2
|
UTSW |
7 |
84,506,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R7164:Or5ae2
|
UTSW |
7 |
84,506,251 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7328:Or5ae2
|
UTSW |
7 |
84,506,507 (GRCm39) |
missense |
probably benign |
0.01 |
R8347:Or5ae2
|
UTSW |
7 |
84,505,963 (GRCm39) |
missense |
probably damaging |
0.99 |
R8434:Or5ae2
|
UTSW |
7 |
84,506,497 (GRCm39) |
missense |
probably benign |
|
R8882:Or5ae2
|
UTSW |
7 |
84,505,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R9242:Or5ae2
|
UTSW |
7 |
84,506,086 (GRCm39) |
nonsense |
probably null |
|
R9640:Or5ae2
|
UTSW |
7 |
84,506,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |