Incidental Mutation 'R3810:Or5w18'
| ID |
275144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5w18
|
| Ensembl Gene |
ENSMUSG00000068815 |
| Gene Name |
olfactory receptor family 5 subfamily W member 18 |
| Synonyms |
MOR177-14, Olfr1143, GA_x6K02T2Q125-49303473-49304405 |
| MMRRC Submission |
040880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R3810 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87632735-87633679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87633396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 221
(S221F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090708]
[ENSMUST00000099852]
[ENSMUST00000111568]
|
| AlphaFold |
Q8VEU8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090708
AA Change: S221F
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000088210
Gene: ENSMUSG00000068815
AA Change: S221F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
312 |
2.6e-45 |
PFAM |
|
Pfam:7tm_1
|
45 |
294 |
5.8e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099852
AA Change: S217F
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097438
Gene: ENSMUSG00000068815
AA Change: S217F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
2e-41 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
4.3e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111568
AA Change: S217F
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107194
Gene: ENSMUSG00000068815
AA Change: S217F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.5e-44 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.8e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.5201 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd6 |
T |
A |
14: 8,045,603 (GRCm38) |
V173D |
probably benign |
Het |
| Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
| Ahcyl2 |
A |
G |
6: 29,891,260 (GRCm39) |
I455V |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,733,871 (GRCm39) |
D404E |
probably benign |
Het |
| Ctbp1 |
A |
G |
5: 33,424,389 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,022 (GRCm39) |
C160S |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,908,503 (GRCm39) |
W1039R |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,712,873 (GRCm39) |
K1995E |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,391,068 (GRCm39) |
E440G |
probably benign |
Het |
| Gm20939 |
G |
A |
17: 95,184,138 (GRCm39) |
R262K |
possibly damaging |
Het |
| Gm9637 |
A |
T |
14: 19,402,398 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9847 |
T |
C |
12: 14,545,148 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
A |
G |
17: 35,644,757 (GRCm39) |
E182G |
probably damaging |
Het |
| Has1 |
T |
C |
17: 18,067,822 (GRCm39) |
Y356C |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Klhl35 |
A |
G |
7: 99,119,448 (GRCm39) |
D311G |
probably benign |
Het |
| Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
| Mrgpra9 |
T |
A |
7: 46,885,527 (GRCm39) |
I47F |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,417,863 (GRCm39) |
L3603P |
possibly damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,859 (GRCm39) |
H323R |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,053,049 (GRCm39) |
I35F |
probably damaging |
Het |
| Or4c124 |
G |
A |
2: 89,156,098 (GRCm39) |
T142M |
probably benign |
Het |
| Or4c12b |
T |
A |
2: 89,647,395 (GRCm39) |
S242T |
probably damaging |
Het |
| Or5w19 |
T |
A |
2: 87,698,745 (GRCm39) |
S137T |
probably damaging |
Het |
| Orc6 |
T |
A |
8: 86,026,613 (GRCm39) |
S19R |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,414,290 (GRCm39) |
E945G |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,201,717 (GRCm39) |
M377V |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,060,437 (GRCm39) |
V828D |
probably damaging |
Het |
| Rbbp5 |
T |
C |
1: 132,420,325 (GRCm39) |
V59A |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Tas2r130 |
A |
G |
6: 131,607,792 (GRCm39) |
M1T |
probably null |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trgv2 |
T |
C |
13: 19,521,011 (GRCm39) |
T28A |
possibly damaging |
Het |
| Trpc4ap |
T |
A |
2: 155,485,355 (GRCm39) |
I448F |
probably damaging |
Het |
| Ttc21b |
C |
T |
2: 66,082,577 (GRCm39) |
|
probably null |
Het |
| Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,628,919 (GRCm39) |
Y383H |
probably damaging |
Het |
| Vim |
T |
C |
2: 13,583,563 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or5w18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01086:Or5w18
|
APN |
2 |
87,633,544 (GRCm39) |
nonsense |
probably null |
|
|
IGL01670:Or5w18
|
APN |
2 |
87,633,224 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02503:Or5w18
|
APN |
2 |
87,632,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0316:Or5w18
|
UTSW |
2 |
87,633,525 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1381:Or5w18
|
UTSW |
2 |
87,633,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Or5w18
|
UTSW |
2 |
87,633,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1753:Or5w18
|
UTSW |
2 |
87,633,106 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2013:Or5w18
|
UTSW |
2 |
87,632,847 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2370:Or5w18
|
UTSW |
2 |
87,633,159 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3812:Or5w18
|
UTSW |
2 |
87,633,396 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3909:Or5w18
|
UTSW |
2 |
87,633,031 (GRCm39) |
missense |
probably benign |
|
|
R4227:Or5w18
|
UTSW |
2 |
87,633,219 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5753:Or5w18
|
UTSW |
2 |
87,633,596 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6516:Or5w18
|
UTSW |
2 |
87,633,114 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9101:Or5w18
|
UTSW |
2 |
87,632,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9144:Or5w18
|
UTSW |
2 |
87,633,482 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Or5w18
|
UTSW |
2 |
87,633,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGCAGACTCTTTGATCC -3'
(R):5'- AGGGTTTAGCATGGGTATCAC -3'
Sequencing Primer
(F):5'- GTGGCAGACTCTTTGATCCATACAAC -3'
(R):5'- AAACAGGGAGCTCATTTTGTCTTG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation