Incidental Mutation 'IGL01694:Or4e2'
| ID |
104197 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4e2
|
| Ensembl Gene |
ENSMUSG00000035626 |
| Gene Name |
olfactory receptor family 4 subfamily E member 2 |
| Synonyms |
MOR83, Olfr1509, MOR244-3, GA_x6K02T2RJGY-534312-533386 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
IGL01694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
52687850-52688859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52688041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 57
(N57S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045066]
[ENSMUST00000205900]
[ENSMUST00000206100]
[ENSMUST00000206437]
[ENSMUST00000206718]
[ENSMUST00000215030]
|
| AlphaFold |
Q7TQQ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045066
AA Change: N57S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046688
Gene: ENSMUSG00000035626
AA Change: N57S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
305 |
1.3e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
301 |
3.3e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
6.8e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205900
AA Change: N57S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206100
AA Change: N57S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206437
AA Change: N57S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206718
AA Change: N57S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215030
AA Change: N57S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
G |
14: 35,818,659 (GRCm39) |
*219W |
probably null |
Het |
| Abi1 |
G |
A |
2: 22,850,725 (GRCm39) |
T238M |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,631,418 (GRCm39) |
L259F |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,319,938 (GRCm39) |
I1413F |
probably damaging |
Het |
| Ddx21 |
T |
A |
10: 62,434,430 (GRCm39) |
K110* |
probably null |
Het |
| Dnm1l |
A |
T |
16: 16,134,515 (GRCm39) |
I463N |
probably benign |
Het |
| Dst |
C |
A |
1: 34,227,241 (GRCm39) |
H1286Q |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,156,693 (GRCm39) |
N67K |
probably benign |
Het |
| Eps8l3 |
G |
A |
3: 107,799,624 (GRCm39) |
C578Y |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,398,272 (GRCm39) |
I944F |
probably benign |
Het |
| Itga10 |
A |
T |
3: 96,559,833 (GRCm39) |
D496V |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 26,882,738 (GRCm39) |
K2608N |
possibly damaging |
Het |
| Lap3 |
T |
A |
5: 45,655,937 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 90,988,320 (GRCm39) |
|
probably benign |
Het |
| Mdh1b |
T |
A |
1: 63,750,265 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,370,850 (GRCm39) |
|
probably benign |
Het |
| Opalin |
A |
G |
19: 41,052,239 (GRCm39) |
|
probably benign |
Het |
| Plxna3 |
T |
A |
X: 73,382,114 (GRCm39) |
D1291E |
probably damaging |
Het |
| Prss40 |
T |
A |
1: 34,595,178 (GRCm39) |
I101F |
probably benign |
Het |
| Rpl5 |
T |
C |
5: 108,055,106 (GRCm39) |
Y253H |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,259 (GRCm39) |
I278T |
probably benign |
Het |
| Slc25a34 |
G |
A |
4: 141,349,564 (GRCm39) |
A197V |
probably benign |
Het |
| Slco6d1 |
C |
T |
1: 98,427,570 (GRCm39) |
R634W |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,577,166 (GRCm39) |
A871D |
probably damaging |
Het |
| Speer2 |
C |
T |
16: 69,655,000 (GRCm39) |
S155N |
probably damaging |
Het |
| Speer2 |
T |
A |
16: 69,655,001 (GRCm39) |
S155C |
probably damaging |
Het |
| Spink12 |
T |
A |
18: 44,240,827 (GRCm39) |
V71E |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,278,475 (GRCm39) |
D1011G |
possibly damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,210,624 (GRCm39) |
T78I |
possibly damaging |
Het |
| Tub |
T |
C |
7: 108,620,243 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,802,631 (GRCm39) |
V644D |
probably damaging |
Het |
| Zfp7 |
C |
T |
15: 76,774,995 (GRCm39) |
Q346* |
probably null |
Het |
|
| Other mutations in Or4e2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Or4e2
|
APN |
14 |
52,688,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02656:Or4e2
|
APN |
14 |
52,688,166 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0244:Or4e2
|
UTSW |
14 |
52,687,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1249:Or4e2
|
UTSW |
14 |
52,687,979 (GRCm39) |
missense |
probably benign |
|
|
R1601:Or4e2
|
UTSW |
14 |
52,687,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1717:Or4e2
|
UTSW |
14 |
52,688,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1953:Or4e2
|
UTSW |
14 |
52,688,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4689:Or4e2
|
UTSW |
14 |
52,688,671 (GRCm39) |
missense |
probably benign |
|
|
R4943:Or4e2
|
UTSW |
14 |
52,688,051 (GRCm39) |
nonsense |
probably null |
|
|
R6223:Or4e2
|
UTSW |
14 |
52,688,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6516:Or4e2
|
UTSW |
14 |
52,688,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7323:Or4e2
|
UTSW |
14 |
52,688,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7507:Or4e2
|
UTSW |
14 |
52,687,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7674:Or4e2
|
UTSW |
14 |
52,687,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9010:Or4e2
|
UTSW |
14 |
52,688,556 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9505:Or4e2
|
UTSW |
14 |
52,687,929 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Or4e2
|
UTSW |
14 |
52,688,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation