Incidental Mutation 'R0764:Or2aj5'
| ID |
72575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2aj5
|
| Ensembl Gene |
ENSMUSG00000062245 |
| Gene Name |
olfactory receptor family 2 subfamily AJ member 5 |
| Synonyms |
Olfr170, MOR273-2, GA_x54KRFPKG5P-16052703-16051765 |
| MMRRC Submission |
038944-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R0764 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
19424475-19425416 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 19425182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 79
(P79T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078603]
[ENSMUST00000206562]
[ENSMUST00000218837]
|
| AlphaFold |
Q8VGL6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078603
AA Change: P78T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077674
Gene: ENSMUSG00000062245
AA Change: P78T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
308 |
1.5e-43 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.4e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206562
AA Change: P78T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218837
AA Change: P79T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.3764 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.1%
|
| Validation Efficiency |
98% (48/49) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,950,772 (GRCm39) |
Y898N |
probably damaging |
Het |
| Acp4 |
T |
C |
7: 43,901,738 (GRCm39) |
|
probably benign |
Het |
| Adipor2 |
T |
C |
6: 119,334,215 (GRCm39) |
I332V |
probably benign |
Het |
| Ago3 |
T |
A |
4: 126,248,885 (GRCm39) |
K555N |
possibly damaging |
Het |
| Angpt4 |
A |
G |
2: 151,753,204 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
G |
T |
7: 51,187,590 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
C |
T |
13: 94,616,387 (GRCm39) |
|
probably benign |
Het |
| Cbl |
A |
T |
9: 44,075,449 (GRCm39) |
C399S |
probably damaging |
Het |
| Cdkl2 |
C |
A |
5: 92,168,136 (GRCm39) |
V353L |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,705,017 (GRCm39) |
Y500C |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,083,798 (GRCm39) |
S1242P |
probably damaging |
Het |
| Crhr1 |
C |
T |
11: 104,050,152 (GRCm39) |
R66W |
probably damaging |
Het |
| Ddx49 |
T |
C |
8: 70,749,907 (GRCm39) |
E170G |
probably benign |
Het |
| Fam193a |
T |
C |
5: 34,600,685 (GRCm39) |
F305L |
probably damaging |
Het |
| Fam76a |
C |
T |
4: 132,638,010 (GRCm39) |
G198R |
probably damaging |
Het |
| Gm43302 |
T |
A |
5: 105,428,355 (GRCm39) |
I130F |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,424,832 (GRCm39) |
I745N |
possibly damaging |
Het |
| Ina |
T |
A |
19: 47,012,087 (GRCm39) |
*502K |
probably null |
Het |
| Kdm1b |
A |
T |
13: 47,222,079 (GRCm39) |
D506V |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,659,249 (GRCm39) |
|
probably null |
Het |
| Ly6g2 |
T |
A |
15: 75,092,572 (GRCm39) |
F97Y |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,353,613 (GRCm39) |
D1215E |
probably benign |
Het |
| Neb |
A |
G |
2: 52,106,879 (GRCm39) |
|
probably benign |
Het |
| Nectin2 |
T |
A |
7: 19,483,096 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or4a71 |
A |
G |
2: 89,358,340 (GRCm39) |
V138A |
probably benign |
Het |
| Osbp |
A |
G |
19: 11,961,520 (GRCm39) |
|
probably benign |
Het |
| Otog |
A |
G |
7: 45,949,918 (GRCm39) |
D2460G |
probably benign |
Het |
| Pcgf1 |
T |
C |
6: 83,056,150 (GRCm39) |
C2R |
probably damaging |
Het |
| Per2 |
C |
T |
1: 91,357,142 (GRCm39) |
V674M |
probably damaging |
Het |
| Pias3 |
C |
T |
3: 96,608,611 (GRCm39) |
P218S |
probably damaging |
Het |
| Plod3 |
C |
T |
5: 137,018,437 (GRCm39) |
|
probably benign |
Het |
| Purb |
C |
T |
11: 6,425,661 (GRCm39) |
V76M |
probably damaging |
Het |
| Ranbp1 |
C |
A |
16: 18,058,022 (GRCm39) |
E181* |
probably null |
Het |
| Rit2 |
T |
C |
18: 31,286,754 (GRCm39) |
|
probably benign |
Het |
| Rnf103 |
C |
A |
6: 71,486,566 (GRCm39) |
T399K |
probably damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,037,746 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
T |
A |
14: 49,543,796 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf17 |
C |
T |
16: 11,133,063 (GRCm39) |
T47M |
possibly damaging |
Het |
| Tram1 |
A |
G |
1: 13,649,933 (GRCm39) |
I97T |
probably damaging |
Het |
| Ttc38 |
T |
C |
15: 85,730,604 (GRCm39) |
|
probably benign |
Het |
| Zfp113 |
T |
A |
5: 138,143,506 (GRCm39) |
Q248L |
probably damaging |
Het |
|
| Other mutations in Or2aj5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01671:Or2aj5
|
APN |
16 |
19,424,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02002:Or2aj5
|
APN |
16 |
19,425,300 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02537:Or2aj5
|
APN |
16 |
19,424,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02881:Or2aj5
|
APN |
16 |
19,425,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03189:Or2aj5
|
APN |
16 |
19,425,341 (GRCm39) |
missense |
probably benign |
|
|
R0012:Or2aj5
|
UTSW |
16 |
19,425,190 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0619:Or2aj5
|
UTSW |
16 |
19,425,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Or2aj5
|
UTSW |
16 |
19,424,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1430:Or2aj5
|
UTSW |
16 |
19,424,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Or2aj5
|
UTSW |
16 |
19,425,062 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1878:Or2aj5
|
UTSW |
16 |
19,424,501 (GRCm39) |
missense |
probably benign |
|
|
R1989:Or2aj5
|
UTSW |
16 |
19,425,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2012:Or2aj5
|
UTSW |
16 |
19,424,881 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3890:Or2aj5
|
UTSW |
16 |
19,425,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3891:Or2aj5
|
UTSW |
16 |
19,425,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5591:Or2aj5
|
UTSW |
16 |
19,424,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6158:Or2aj5
|
UTSW |
16 |
19,424,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6297:Or2aj5
|
UTSW |
16 |
19,424,680 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6512:Or2aj5
|
UTSW |
16 |
19,425,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6962:Or2aj5
|
UTSW |
16 |
19,424,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7252:Or2aj5
|
UTSW |
16 |
19,425,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7605:Or2aj5
|
UTSW |
16 |
19,425,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7687:Or2aj5
|
UTSW |
16 |
19,424,485 (GRCm39) |
missense |
probably benign |
|
|
R8302:Or2aj5
|
UTSW |
16 |
19,425,116 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8991:Or2aj5
|
UTSW |
16 |
19,424,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCATCAGCACAGGGTAGCAAAG -3'
(R):5'- ACAATGCCCAGGTTCTAGGGAGAG -3'
Sequencing Primer
(F):5'- AGTGGGTGGCAGATGGC -3'
(R):5'- CTGAAGCTCTCTATGAGGCAC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation