Incidental Mutation 'IGL00940:Or51e2'
| ID |
27839 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51e2
|
| Ensembl Gene |
ENSMUSG00000043366 |
| Gene Name |
olfactory receptor family 51 subfamily E member 2 |
| Synonyms |
PSGR, MOL2.3, RA1c, MOR18-2, 4633402A21Rik, Olfr78, GA_x6K02T2PBJ9-5459657-5458695 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL00940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102389928-102408678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102391469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 247
(V247A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060187]
[ENSMUST00000168007]
[ENSMUST00000217123]
|
| AlphaFold |
Q8VBV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060187
AA Change: V247A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058085
Gene: ENSMUSG00000043366
AA Change: V247A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
309 |
1.9e-111 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
252 |
1.4e-8 |
PFAM |
|
Pfam:7tm_1
|
40 |
291 |
2.3e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168007
AA Change: V247A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133255
Gene: ENSMUSG00000043366
AA Change: V247A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
34 |
252 |
1.4e-8 |
PFAM |
|
Pfam:7tm_1
|
40 |
291 |
1.4e-25 |
PFAM |
|
Pfam:7tm_4
|
140 |
284 |
2.8e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209365
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217123
AA Change: V247A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| 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]
PHENOTYPE: Targeted inactivation of this gene leads to alterations in olfactory sensory neuron development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks1 |
A |
G |
17: 28,276,328 (GRCm39) |
N1024D |
probably damaging |
Het |
| Cts7 |
A |
G |
13: 61,504,723 (GRCm39) |
|
probably null |
Het |
| Dock3 |
T |
A |
9: 106,788,576 (GRCm39) |
|
probably benign |
Het |
| Fbxo6 |
A |
G |
4: 148,230,567 (GRCm39) |
F232L |
probably benign |
Het |
| Hsd3b6 |
A |
T |
3: 98,713,940 (GRCm39) |
F120I |
probably damaging |
Het |
| Il4ra |
G |
A |
7: 125,168,347 (GRCm39) |
|
probably null |
Het |
| Irs4 |
A |
T |
X: 140,505,140 (GRCm39) |
F1019I |
unknown |
Het |
| Klc1 |
A |
G |
12: 111,753,932 (GRCm39) |
T464A |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 120,999,371 (GRCm39) |
T660A |
possibly damaging |
Het |
| Ndufs7 |
T |
A |
10: 80,090,955 (GRCm39) |
V158E |
probably damaging |
Het |
| Nhs |
T |
A |
X: 160,620,226 (GRCm39) |
N1510I |
probably damaging |
Het |
| Or8k38 |
T |
G |
2: 86,488,070 (GRCm39) |
H244P |
probably damaging |
Het |
| Pole2 |
G |
A |
12: 69,262,134 (GRCm39) |
T148I |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,124,126 (GRCm39) |
L267H |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,733 (GRCm39) |
E803G |
probably damaging |
Het |
| Rassf1 |
G |
T |
9: 107,435,510 (GRCm39) |
|
probably benign |
Het |
| Rnf220 |
T |
C |
4: 117,164,872 (GRCm39) |
K210R |
probably benign |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Snd1 |
T |
C |
6: 28,745,174 (GRCm39) |
|
probably benign |
Het |
| Spmip9 |
C |
A |
6: 70,890,372 (GRCm39) |
R140L |
probably benign |
Het |
| Ssb |
T |
A |
2: 69,701,179 (GRCm39) |
|
probably null |
Het |
| Tlr5 |
T |
C |
1: 182,801,761 (GRCm39) |
V355A |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,090,158 (GRCm39) |
R414* |
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,327,674 (GRCm39) |
S559P |
probably benign |
Het |
|
| Other mutations in Or51e2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02071:Or51e2
|
APN |
7 |
102,391,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03166:Or51e2
|
APN |
7 |
102,391,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0415:Or51e2
|
UTSW |
7 |
102,391,294 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0781:Or51e2
|
UTSW |
7 |
102,392,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1676:Or51e2
|
UTSW |
7 |
102,391,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Or51e2
|
UTSW |
7 |
102,391,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2391:Or51e2
|
UTSW |
7 |
102,391,581 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4542:Or51e2
|
UTSW |
7 |
102,391,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4671:Or51e2
|
UTSW |
7 |
102,391,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5400:Or51e2
|
UTSW |
7 |
102,391,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7015:Or51e2
|
UTSW |
7 |
102,391,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Or51e2
|
UTSW |
7 |
102,391,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:Or51e2
|
UTSW |
7 |
102,391,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8259:Or51e2
|
UTSW |
7 |
102,392,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8772:Or51e2
|
UTSW |
7 |
102,392,210 (GRCm39) |
start gained |
probably benign |
|
|
R9095:Or51e2
|
UTSW |
7 |
102,391,473 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
| Posted On |
2013-04-17 |
Incidental Mutation