Incidental Mutation 'R4500:Or51a43'
| ID |
331784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51a43
|
| Ensembl Gene |
ENSMUSG00000110012 |
| Gene Name |
olfactory receptor family 51 subfamily A member 43 |
| Synonyms |
Olfr644, MOR13-1, GA_x6K02T2PBJ9-6803062-6802118 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R4500 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103717292-103718236 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103717402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 279
(S279P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077417]
[ENSMUST00000138055]
[ENSMUST00000213184]
[ENSMUST00000213991]
|
| AlphaFold |
Q8VH21 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077417
AA Change: S279P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076633
Gene: ENSMUSG00000110012
AA Change: S279P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
2e-122 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
256 |
5.9e-8 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
1.4e-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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213184
AA Change: S279P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213991
AA Change: S279P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
T |
A |
16: 88,556,429 (GRCm39) |
C214* |
probably null |
Het |
| Ap3s1 |
T |
C |
18: 46,923,067 (GRCm39) |
V186A |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,114 (GRCm39) |
E282G |
probably benign |
Het |
| Duxf4 |
C |
T |
10: 58,071,528 (GRCm39) |
A229T |
possibly damaging |
Het |
| Fam83d |
A |
G |
2: 158,627,187 (GRCm39) |
E292G |
probably benign |
Het |
| Hook1 |
T |
C |
4: 95,881,437 (GRCm39) |
|
probably null |
Het |
| Iqca1l |
T |
C |
5: 24,753,275 (GRCm39) |
D459G |
possibly damaging |
Het |
| Klhl18 |
C |
T |
9: 110,259,034 (GRCm39) |
G445S |
probably damaging |
Het |
| Or14a257 |
A |
T |
7: 86,138,127 (GRCm39) |
C211S |
probably benign |
Het |
| Pias3 |
C |
T |
3: 96,608,734 (GRCm39) |
R259W |
probably damaging |
Het |
| Prr11 |
T |
G |
11: 86,989,533 (GRCm39) |
K279N |
possibly damaging |
Het |
| Sugp1 |
T |
C |
8: 70,509,038 (GRCm39) |
S104P |
probably benign |
Het |
| Tmem239 |
A |
G |
2: 130,249,077 (GRCm39) |
Y145C |
possibly damaging |
Het |
| Uchl4 |
T |
C |
9: 64,143,163 (GRCm39) |
F215L |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Usp7 |
C |
T |
16: 8,513,759 (GRCm39) |
E785K |
possibly damaging |
Het |
| Vmn2r66 |
G |
A |
7: 84,657,162 (GRCm39) |
A81V |
probably damaging |
Het |
|
| Other mutations in Or51a43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01614:Or51a43
|
APN |
7 |
103,717,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02937:Or51a43
|
APN |
7 |
103,718,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03188:Or51a43
|
APN |
7 |
103,717,945 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
FR4737:Or51a43
|
UTSW |
7 |
103,720,499 (GRCm39) |
start gained |
probably benign |
|
|
R0467:Or51a43
|
UTSW |
7 |
103,717,332 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1310:Or51a43
|
UTSW |
7 |
103,717,805 (GRCm39) |
missense |
probably benign |
|
|
R1457:Or51a43
|
UTSW |
7 |
103,717,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Or51a43
|
UTSW |
7 |
103,717,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Or51a43
|
UTSW |
7 |
103,717,336 (GRCm39) |
missense |
probably null |
1.00 |
|
R2428:Or51a43
|
UTSW |
7 |
103,717,675 (GRCm39) |
nonsense |
probably null |
|
|
R2922:Or51a43
|
UTSW |
7 |
103,717,794 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2923:Or51a43
|
UTSW |
7 |
103,717,794 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3929:Or51a43
|
UTSW |
7 |
103,717,791 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5035:Or51a43
|
UTSW |
7 |
103,717,614 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5303:Or51a43
|
UTSW |
7 |
103,718,239 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5464:Or51a43
|
UTSW |
7 |
103,717,674 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5722:Or51a43
|
UTSW |
7 |
103,717,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Or51a43
|
UTSW |
7 |
103,717,412 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6874:Or51a43
|
UTSW |
7 |
103,717,396 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6940:Or51a43
|
UTSW |
7 |
103,717,620 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7848:Or51a43
|
UTSW |
7 |
103,717,302 (GRCm39) |
missense |
probably benign |
|
|
R8343:Or51a43
|
UTSW |
7 |
103,717,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8714:Or51a43
|
UTSW |
7 |
103,717,483 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8866:Or51a43
|
UTSW |
7 |
103,718,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8909:Or51a43
|
UTSW |
7 |
103,718,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8966:Or51a43
|
UTSW |
7 |
103,718,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACAGTGCTAAGGTCAAAGATC -3'
(R):5'- ATACTTCGCTCAGTGCTTGC -3'
Sequencing Primer
(F):5'- CTTCAAAACACAAGTTAGTGGAGTC -3'
(R):5'- CTATTGCCTCCCGGGAAGAAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation