Incidental Mutation 'R2430:Or5w16'
| ID |
250365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5w16
|
| Ensembl Gene |
ENSMUSG00000068817 |
| Gene Name |
olfactory receptor family 5 subfamily W member 16 |
| Synonyms |
Olfr1140, GA_x6K02T2Q125-49250025-49250960, MOR177-6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R2430 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
87576505-87577524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87576999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 153
(M153K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111568]
[ENSMUST00000214723]
[ENSMUST00000217572]
|
| AlphaFold |
Q7TR39 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111568
AA Change: M153K
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107194
Gene: ENSMUSG00000068815
AA Change: M153K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.5e-44 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.8e-16 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214723
AA Change: M153K
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217102
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217572
AA Change: M153K
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217634
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| 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 |
|---|
| Arc |
T |
C |
15: 74,543,740 (GRCm39) |
E161G |
probably benign |
Het |
| Ass1 |
A |
G |
2: 31,391,508 (GRCm39) |
H261R |
probably damaging |
Het |
| Car11 |
T |
A |
7: 45,353,072 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,914,329 (GRCm39) |
H844R |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,648,012 (GRCm39) |
|
probably benign |
Het |
| Eya2 |
T |
C |
2: 165,558,050 (GRCm39) |
|
probably null |
Het |
| Klhl40 |
A |
G |
9: 121,609,667 (GRCm39) |
D484G |
possibly damaging |
Het |
| Knstrn |
A |
G |
2: 118,664,584 (GRCm39) |
|
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,842,494 (GRCm39) |
S1838P |
probably damaging |
Het |
| Nipsnap2 |
A |
G |
5: 129,821,855 (GRCm39) |
D117G |
possibly damaging |
Het |
| Nudt15 |
C |
T |
14: 73,762,742 (GRCm39) |
|
probably benign |
Het |
| Or8k35 |
A |
G |
2: 86,425,052 (GRCm39) |
I40T |
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,704,984 (GRCm39) |
D772G |
probably damaging |
Het |
| Pdss1 |
T |
A |
2: 22,819,605 (GRCm39) |
Y289* |
probably null |
Het |
| Phc2 |
A |
T |
4: 128,601,776 (GRCm39) |
Y77F |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,662,755 (GRCm39) |
Y667N |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,859,733 (GRCm39) |
S1186P |
possibly damaging |
Het |
| Prr36 |
A |
T |
8: 4,263,488 (GRCm39) |
|
probably benign |
Het |
| Reck |
C |
T |
4: 43,930,202 (GRCm39) |
T592I |
possibly damaging |
Het |
| Rprd2 |
T |
A |
3: 95,672,107 (GRCm39) |
K1015* |
probably null |
Het |
| Tfrc |
T |
G |
16: 32,445,529 (GRCm39) |
Y617D |
probably damaging |
Het |
| Tnfsf11 |
A |
C |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,365,933 (GRCm39) |
I334F |
probably damaging |
Het |
|
| Other mutations in Or5w16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Or5w16
|
APN |
2 |
87,577,469 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01538:Or5w16
|
APN |
2 |
87,576,942 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01735:Or5w16
|
APN |
2 |
87,576,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02224:Or5w16
|
APN |
2 |
87,576,757 (GRCm39) |
nonsense |
probably null |
|
|
IGL03047:Or5w16
|
UTSW |
2 |
87,577,338 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0537:Or5w16
|
UTSW |
2 |
87,577,017 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1701:Or5w16
|
UTSW |
2 |
87,576,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1998:Or5w16
|
UTSW |
2 |
87,577,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Or5w16
|
UTSW |
2 |
87,576,852 (GRCm39) |
missense |
probably benign |
|
|
R5048:Or5w16
|
UTSW |
2 |
87,576,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5494:Or5w16
|
UTSW |
2 |
87,576,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5521:Or5w16
|
UTSW |
2 |
87,577,406 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7786:Or5w16
|
UTSW |
2 |
87,576,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Or5w16
|
UTSW |
2 |
87,577,392 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8019:Or5w16
|
UTSW |
2 |
87,577,392 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8463:Or5w16
|
UTSW |
2 |
87,577,437 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8827:Or5w16
|
UTSW |
2 |
87,576,777 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9038:Or5w16
|
UTSW |
2 |
87,577,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Or5w16
|
UTSW |
2 |
87,576,764 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Z1088:Or5w16
|
UTSW |
2 |
87,576,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Or5w16
|
UTSW |
2 |
87,576,968 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGGACCAAAGATGCTGG -3'
(R):5'- GAAGTCCTGAAATAGTGCACAAC -3'
Sequencing Primer
(F):5'- GCTGGTAGATTTACTGGCCAAACAC -3'
(R):5'- GTCCTGAAATAGTGCACAACTCAAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation