Incidental Mutation 'R6676:Or51a24'
| ID |
527287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51a24
|
| Ensembl Gene |
ENSMUSG00000051340 |
| Gene Name |
olfactory receptor family 51 subfamily A member 24 |
| Synonyms |
GA_x6K02T2PBJ9-6819097-6818150, MOR13-5, Olfr645 |
| MMRRC Submission |
044795-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6676 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103733338-103734285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103733661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 209
(T209A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057104]
[ENSMUST00000138055]
|
| AlphaFold |
Q7TRQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057104
AA Change: T209A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000062821
Gene: ENSMUSG00000051340
AA Change: T209A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
313 |
5.4e-113 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
256 |
8e-8 |
PFAM |
|
Pfam:7tm_1
|
43 |
295 |
5.4e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138055
|
| SMART Domains |
Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.3%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
A |
T |
8: 27,601,268 (GRCm39) |
I303F |
possibly damaging |
Het |
| Cldn9 |
A |
G |
17: 23,902,023 (GRCm39) |
S201P |
probably benign |
Het |
| Clstn2 |
G |
T |
9: 97,343,584 (GRCm39) |
P621Q |
probably damaging |
Het |
| Ctdspl2 |
A |
G |
2: 121,837,445 (GRCm39) |
N403S |
probably damaging |
Het |
| Cyp2j5 |
T |
C |
4: 96,524,045 (GRCm39) |
Y329C |
possibly damaging |
Het |
| Elapor1 |
A |
G |
3: 108,377,231 (GRCm39) |
L461P |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,287,700 (GRCm39) |
|
probably benign |
Het |
| Fam83a |
A |
G |
15: 57,856,439 (GRCm39) |
D206G |
possibly damaging |
Het |
| Fancd2 |
C |
T |
6: 113,514,626 (GRCm39) |
Q144* |
probably null |
Het |
| Fhl2 |
T |
C |
1: 43,170,970 (GRCm39) |
M115V |
possibly damaging |
Het |
| Fry |
T |
A |
5: 150,304,387 (GRCm39) |
D592E |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Mamdc2 |
T |
A |
19: 23,280,997 (GRCm39) |
I684F |
probably damaging |
Het |
| Mia2 |
T |
C |
12: 59,155,156 (GRCm39) |
Y290H |
probably damaging |
Het |
| Mup12 |
C |
T |
4: 60,696,642 (GRCm39) |
|
probably null |
Het |
| Olr1 |
T |
A |
6: 129,477,040 (GRCm39) |
|
probably null |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,860 (GRCm39) |
V364A |
possibly damaging |
Het |
| Pfkp |
A |
G |
13: 6,636,575 (GRCm39) |
S654P |
possibly damaging |
Het |
| Rab3gap2 |
T |
G |
1: 185,015,607 (GRCm39) |
V1275G |
probably damaging |
Het |
| Rbbp4 |
A |
G |
4: 129,222,414 (GRCm39) |
F93L |
probably benign |
Het |
| Ripk1 |
T |
C |
13: 34,194,587 (GRCm39) |
V75A |
probably damaging |
Het |
| Scg2 |
T |
A |
1: 79,413,499 (GRCm39) |
Q368L |
possibly damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,734,145 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or51a24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1303:Or51a24
|
UTSW |
7 |
103,733,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1488:Or51a24
|
UTSW |
7 |
103,733,859 (GRCm39) |
missense |
probably benign |
|
|
R1556:Or51a24
|
UTSW |
7 |
103,733,468 (GRCm39) |
missense |
probably benign |
|
|
R2158:Or51a24
|
UTSW |
7 |
103,734,033 (GRCm39) |
missense |
probably benign |
|
|
R2987:Or51a24
|
UTSW |
7 |
103,734,077 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4437:Or51a24
|
UTSW |
7 |
103,734,128 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4773:Or51a24
|
UTSW |
7 |
103,733,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Or51a24
|
UTSW |
7 |
103,733,340 (GRCm39) |
makesense |
probably null |
|
|
R5396:Or51a24
|
UTSW |
7 |
103,734,098 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5516:Or51a24
|
UTSW |
7 |
103,733,444 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5761:Or51a24
|
UTSW |
7 |
103,733,376 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5793:Or51a24
|
UTSW |
7 |
103,734,237 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5960:Or51a24
|
UTSW |
7 |
103,733,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6242:Or51a24
|
UTSW |
7 |
103,733,771 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6975:Or51a24
|
UTSW |
7 |
103,734,002 (GRCm39) |
missense |
probably benign |
|
|
R8202:Or51a24
|
UTSW |
7 |
103,734,198 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9402:Or51a24
|
UTSW |
7 |
103,733,610 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGATGCACAATAGACACACTG -3'
(R):5'- TGCAATCCACTGCGCTATGC -3'
Sequencing Primer
(F):5'- CACTGACCATGGGCACATAGAATATG -3'
(R):5'- TGGGAACAGTCCTCCGTAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation