Incidental Mutation 'R6625:Or5a3'
| ID |
524774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5a3
|
| Ensembl Gene |
ENSMUSG00000050815 |
| Gene Name |
olfactory receptor family 5 subfamily A member 3 |
| Synonyms |
MOR215-2, GA_x6K02T2RE5P-2753221-2754177, Olfr1441 |
| MMRRC Submission |
044747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6625 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12399675-12400631 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 12400205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 177
(H177Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059033]
[ENSMUST00000214153]
[ENSMUST00000216506]
|
| AlphaFold |
Q8VFV3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059033
AA Change: H177Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061963
Gene: ENSMUSG00000050815
AA Change: H177Q
| 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 damaging
Transcript: ENSMUST00000214153
AA Change: H177Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216506
AA Change: H177Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
91% (30/33) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Apcdd1 |
C |
A |
18: 63,084,929 (GRCm39) |
D375E |
probably damaging |
Het |
| Cacna2d1 |
A |
T |
5: 16,567,391 (GRCm39) |
R984W |
probably null |
Het |
| Csmd3 |
T |
G |
15: 47,470,471 (GRCm39) |
I3402L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,604,916 (GRCm39) |
T1281S |
probably benign |
Het |
| Dnmt3b |
T |
C |
2: 153,507,233 (GRCm39) |
I139T |
probably benign |
Het |
| Dtnbp1 |
T |
C |
13: 45,145,507 (GRCm39) |
E40G |
possibly damaging |
Het |
| Fam162b |
C |
T |
10: 51,466,391 (GRCm39) |
G43R |
probably damaging |
Het |
| G2e3 |
T |
G |
12: 51,400,572 (GRCm39) |
|
probably null |
Het |
| Kiss1r |
G |
A |
10: 79,755,368 (GRCm39) |
V118I |
possibly damaging |
Het |
| Mre11a |
T |
C |
9: 14,716,687 (GRCm39) |
M294T |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,571,574 (GRCm39) |
V315D |
unknown |
Het |
| Nelfe |
C |
T |
17: 35,073,334 (GRCm39) |
P290S |
probably benign |
Het |
| Or2v2 |
T |
A |
11: 49,003,896 (GRCm39) |
Y219F |
probably damaging |
Het |
| Pcolce2 |
T |
A |
9: 95,560,492 (GRCm39) |
C180* |
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,154,333 (GRCm39) |
V2482D |
probably damaging |
Het |
| Plagl1 |
T |
C |
10: 13,003,806 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,090,369 (GRCm39) |
Y470N |
probably damaging |
Het |
| Pramel57 |
C |
T |
5: 95,669,342 (GRCm39) |
H124Y |
possibly damaging |
Het |
| Prss48 |
G |
T |
3: 85,905,373 (GRCm39) |
Q167K |
probably benign |
Het |
| Saxo4 |
G |
A |
19: 10,459,100 (GRCm39) |
P65L |
probably damaging |
Het |
| Scyl1 |
C |
A |
19: 5,810,854 (GRCm39) |
V488F |
probably damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,372,594 (GRCm39) |
L587Q |
possibly damaging |
Het |
| Sim1 |
A |
G |
10: 50,860,082 (GRCm39) |
D648G |
probably benign |
Het |
| Snupn |
G |
A |
9: 56,890,054 (GRCm39) |
V292I |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,656,717 (GRCm39) |
H474R |
probably damaging |
Het |
| Thap12 |
G |
A |
7: 98,365,277 (GRCm39) |
V482I |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,949,025 (GRCm39) |
V454D |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,894,935 (GRCm39) |
I862V |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,693,177 (GRCm39) |
F474L |
probably benign |
Het |
| Zbtb38 |
T |
C |
9: 96,569,366 (GRCm39) |
R573G |
probably damaging |
Het |
| Zfp493 |
C |
T |
13: 67,934,514 (GRCm39) |
Q156* |
probably null |
Het |
| Zfp873 |
C |
A |
10: 81,896,138 (GRCm39) |
P290T |
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 |
|
IGL03310:Or5a3
|
APN |
19 |
12,400,291 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTACTGAGTGCTGTCTCCTG -3'
(R):5'- GCACAGGTGTTGAAAGCTTTC -3'
Sequencing Primer
(F):5'- CAGCCATGGCATATGACAGATACG -3'
(R):5'- CATCTGCCCATGGGTTGAATGAATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation