Incidental Mutation 'R1085:Or5ae2'
| ID |
84984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5ae2
|
| Ensembl Gene |
ENSMUSG00000070460 |
| Gene Name |
olfactory receptor family 5 subfamily AE member 2 |
| Synonyms |
GA_x6K02T2NHDJ-11231385-11230438, Olfr291, MOR254-2 |
| MMRRC Submission |
039171-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R1085 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
84502779-84506526 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84505987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 137
(T137A)
|
| 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: T137A
| 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 benign
Transcript: ENSMUST00000211582
AA Change: T139A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217039
AA Change: T137A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,388,338 (GRCm39) |
T278S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,990,489 (GRCm39) |
D3924E |
possibly damaging |
Het |
| Cfap57 |
T |
A |
4: 118,452,976 (GRCm39) |
T576S |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,069,662 (GRCm39) |
R247K |
probably benign |
Het |
| Dipk1c |
A |
G |
18: 84,757,509 (GRCm39) |
I198V |
possibly damaging |
Het |
| Gldc |
C |
A |
19: 30,128,828 (GRCm39) |
C215F |
probably damaging |
Het |
| Grm4 |
T |
A |
17: 27,692,007 (GRCm39) |
Y204F |
probably damaging |
Het |
| Itga11 |
T |
G |
9: 62,585,252 (GRCm39) |
V9G |
probably benign |
Het |
| Mc2r |
A |
G |
18: 68,540,417 (GRCm39) |
F292S |
probably benign |
Het |
| Mcur1 |
A |
G |
13: 43,708,480 (GRCm39) |
S124P |
unknown |
Het |
| Mrtfa |
T |
C |
15: 80,905,084 (GRCm39) |
D116G |
probably damaging |
Het |
| Nin |
G |
T |
12: 70,067,736 (GRCm39) |
Q1964K |
possibly damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or5b117 |
C |
T |
19: 13,431,594 (GRCm39) |
A96T |
possibly damaging |
Het |
| Psd2 |
G |
A |
18: 36,145,830 (GRCm39) |
A745T |
probably benign |
Het |
| Rrp36 |
A |
G |
17: 46,978,878 (GRCm39) |
*227Q |
probably null |
Het |
| Sh3tc2 |
A |
C |
18: 62,148,067 (GRCm39) |
D1259A |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tex2 |
G |
A |
11: 106,459,313 (GRCm39) |
S39L |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,796 (GRCm39) |
I24T |
possibly damaging |
Het |
| Troap |
T |
C |
15: 98,980,044 (GRCm39) |
V408A |
probably damaging |
Het |
| Ttc16 |
A |
T |
2: 32,665,092 (GRCm39) |
S12T |
possibly damaging |
Het |
| Wdr37 |
A |
T |
13: 8,855,964 (GRCm39) |
C460S |
probably damaging |
Het |
|
| Other mutations in Or5ae2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01863:Or5ae2
|
APN |
7 |
84,505,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTACTGTCCCCAAGATGCTCAAG -3'
(R):5'- TCCTTCTGCTGACCGGATCTTTAGG -3'
Sequencing Primer
(F):5'- GAATCTCTTGACTGAGGATCACAG -3'
(R):5'- AGAAGCACTTCTGCCATATAGG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation