Incidental Mutation 'R4563:Or5be3'
| ID |
343182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5be3
|
| Ensembl Gene |
ENSMUSG00000075165 |
| Gene Name |
olfactory receptor family 5 subfamily BE member 3 |
| Synonyms |
Olfr1105, GA_x6K02T2Q125-48521031-48520093, MOR0-6P, MOR172-7 |
| MMRRC Submission |
041788-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R4563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
86863625-86864563 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86864028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 179
(C179Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099868]
[ENSMUST00000215978]
|
| AlphaFold |
Q7TR58 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099868
AA Change: C179Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097453
Gene: ENSMUSG00000075165
AA Change: C179Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
308 |
5.2e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
5.5e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
308 |
5.2e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215978
AA Change: C179Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (40/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
G |
12: 21,382,089 (GRCm39) |
C591R |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Calm5 |
C |
A |
13: 3,904,402 (GRCm39) |
S32* |
probably null |
Het |
| Ccdc198 |
T |
A |
14: 49,471,955 (GRCm39) |
M152L |
probably benign |
Het |
| Cln3 |
G |
T |
7: 126,171,730 (GRCm39) |
S346R |
probably damaging |
Het |
| G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
| Glipr2 |
A |
T |
4: 43,977,600 (GRCm39) |
N77Y |
probably damaging |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,766,264 (GRCm39) |
V37A |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Mcm3 |
G |
T |
1: 20,879,869 (GRCm39) |
R543S |
probably benign |
Het |
| Mgat4a |
T |
C |
1: 37,505,660 (GRCm39) |
D43G |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,928,457 (GRCm39) |
Y703H |
probably benign |
Het |
| Ncf2 |
T |
C |
1: 152,683,976 (GRCm39) |
|
probably benign |
Het |
| Nek6 |
T |
G |
2: 38,475,305 (GRCm39) |
V282G |
probably damaging |
Het |
| Nhlrc1 |
T |
C |
13: 47,167,666 (GRCm39) |
D197G |
possibly damaging |
Het |
| Nup93 |
G |
T |
8: 95,034,520 (GRCm39) |
V612F |
probably damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,646 (GRCm39) |
F103L |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,887,404 (GRCm39) |
K36E |
probably damaging |
Het |
| Paqr9 |
A |
G |
9: 95,442,997 (GRCm39) |
E329G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,383 (GRCm39) |
Q256R |
probably damaging |
Het |
| Pctp |
A |
T |
11: 89,879,578 (GRCm39) |
D94E |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Pex14 |
A |
T |
4: 149,126,225 (GRCm39) |
V41D |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,561 (GRCm39) |
K366R |
probably damaging |
Het |
| Rprd1a |
A |
C |
18: 24,640,160 (GRCm39) |
|
probably null |
Het |
| Senp8 |
A |
C |
9: 59,657,546 (GRCm39) |
M1R |
probably null |
Het |
| Slc49a4 |
T |
C |
16: 35,518,312 (GRCm39) |
Y467C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Strc |
T |
C |
2: 121,196,286 (GRCm39) |
T1581A |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,536,035 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,443,622 (GRCm39) |
|
probably benign |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,308 (GRCm39) |
T69A |
probably damaging |
Het |
|
| Other mutations in Or5be3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01673:Or5be3
|
APN |
2 |
86,863,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02029:Or5be3
|
APN |
2 |
86,864,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02332:Or5be3
|
APN |
2 |
86,864,556 (GRCm39) |
missense |
probably benign |
0.32 |
|
3-1:Or5be3
|
UTSW |
2 |
86,864,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Or5be3
|
UTSW |
2 |
86,864,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Or5be3
|
UTSW |
2 |
86,864,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Or5be3
|
UTSW |
2 |
86,863,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0100:Or5be3
|
UTSW |
2 |
86,863,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0417:Or5be3
|
UTSW |
2 |
86,863,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0573:Or5be3
|
UTSW |
2 |
86,863,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0589:Or5be3
|
UTSW |
2 |
86,864,459 (GRCm39) |
nonsense |
probably null |
|
|
R0630:Or5be3
|
UTSW |
2 |
86,863,653 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0690:Or5be3
|
UTSW |
2 |
86,864,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3929:Or5be3
|
UTSW |
2 |
86,864,428 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4718:Or5be3
|
UTSW |
2 |
86,864,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6362:Or5be3
|
UTSW |
2 |
86,863,633 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8867:Or5be3
|
UTSW |
2 |
86,863,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9430:Or5be3
|
UTSW |
2 |
86,864,253 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF011:Or5be3
|
UTSW |
2 |
86,864,385 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Or5be3
|
UTSW |
2 |
86,863,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTACAGTTAGGTGGGACGCAC -3'
(R):5'- GGCTGCAATGGCCTATGATC -3'
Sequencing Primer
(F):5'- GGATAAAGCCTTATAACTTCCCCTGG -3'
(R):5'- CTGCAATGGCCTATGATCGGTATC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation