Incidental Mutation 'IGL00927:Or52w1'
| ID |
27819 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52w1
|
| Ensembl Gene |
ENSMUSG00000073906 |
| Gene Name |
olfactory receptor family 52 subfamily W member 1 |
| Synonyms |
MOR36-1, GA_x6K02T2PBJ9-7994144-7995106, Olfr692 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
IGL00927
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
105017535-105018524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105018454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 298
(Y298F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098152]
[ENSMUST00000179474]
[ENSMUST00000217827]
|
| AlphaFold |
Q8VF03 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098152
AA Change: Y298F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095755
Gene: ENSMUSG00000073906
AA Change: Y298F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
45 |
325 |
1.3e-90 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
49 |
233 |
1.3e-7 |
PFAM |
|
Pfam:7tm_1
|
55 |
307 |
3.9e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179474
|
| SMART Domains |
Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
426 |
4.2e-98 |
PFAM |
|
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
920 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211019
AA Change: Y307F
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217827
AA Change: Y307F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,674 (GRCm39) |
T92A |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,765,125 (GRCm39) |
S1007G |
probably benign |
Het |
| Cabp4 |
A |
T |
19: 4,189,406 (GRCm39) |
S50R |
possibly damaging |
Het |
| Camp |
A |
T |
9: 109,678,336 (GRCm39) |
L56Q |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,986,461 (GRCm39) |
N568S |
probably benign |
Het |
| Ccr6 |
C |
A |
17: 8,474,825 (GRCm39) |
T10K |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,072,992 (GRCm39) |
F106S |
probably damaging |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,943 (GRCm39) |
L34P |
probably damaging |
Het |
| Dcun1d1 |
A |
T |
3: 35,975,114 (GRCm39) |
|
probably benign |
Het |
| Deup1 |
A |
G |
9: 15,521,967 (GRCm39) |
|
probably benign |
Het |
| Erich1 |
A |
G |
8: 14,083,518 (GRCm39) |
F184S |
probably damaging |
Het |
| Fmnl3 |
A |
G |
15: 99,235,509 (GRCm39) |
|
probably null |
Het |
| Grk2 |
T |
C |
19: 4,337,982 (GRCm39) |
N508S |
probably benign |
Het |
| Herc4 |
A |
G |
10: 63,109,316 (GRCm39) |
I184V |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ift56 |
T |
C |
6: 38,359,155 (GRCm39) |
|
probably benign |
Het |
| Kif3b |
G |
A |
2: 153,158,381 (GRCm39) |
A61T |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,742,890 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
C |
A |
3: 157,866,727 (GRCm39) |
V1005L |
possibly damaging |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,046 (GRCm39) |
M168L |
probably benign |
Het |
| Ndc1 |
C |
T |
4: 107,241,977 (GRCm39) |
|
probably benign |
Het |
| Nphs1 |
A |
G |
7: 30,160,164 (GRCm39) |
|
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,907,734 (GRCm39) |
V200A |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,647,606 (GRCm39) |
Y245C |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,740,918 (GRCm39) |
T1055A |
probably damaging |
Het |
| Plcl2 |
C |
T |
17: 50,913,948 (GRCm39) |
S319L |
probably benign |
Het |
| Plekha8 |
C |
A |
6: 54,606,822 (GRCm39) |
Y372* |
probably null |
Het |
| Ralb |
T |
A |
1: 119,399,506 (GRCm39) |
N184I |
probably benign |
Het |
| Robo3 |
C |
T |
9: 37,339,050 (GRCm39) |
|
probably null |
Het |
| Slc41a1 |
T |
A |
1: 131,766,914 (GRCm39) |
L144H |
probably damaging |
Het |
| Smg1 |
C |
T |
7: 117,739,855 (GRCm39) |
G3364D |
probably damaging |
Het |
| Spmap2 |
A |
G |
10: 79,412,433 (GRCm39) |
S329P |
probably damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,216 (GRCm39) |
V36D |
possibly damaging |
Het |
| Zbtb7c |
T |
C |
18: 76,278,921 (GRCm39) |
S460P |
possibly damaging |
Het |
| Zscan30 |
T |
C |
18: 24,104,834 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Or52w1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01772:Or52w1
|
APN |
7 |
105,017,641 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02508:Or52w1
|
APN |
7 |
105,017,743 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03103:Or52w1
|
APN |
7 |
105,017,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1147:Or52w1
|
UTSW |
7 |
105,018,484 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1147:Or52w1
|
UTSW |
7 |
105,018,484 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5237:Or52w1
|
UTSW |
7 |
105,018,513 (GRCm39) |
nonsense |
probably null |
|
|
R5294:Or52w1
|
UTSW |
7 |
105,017,620 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5955:Or52w1
|
UTSW |
7 |
105,017,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6321:Or52w1
|
UTSW |
7 |
105,018,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7171:Or52w1
|
UTSW |
7 |
105,017,968 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7284:Or52w1
|
UTSW |
7 |
105,017,752 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8376:Or52w1
|
UTSW |
7 |
105,017,847 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8516:Or52w1
|
UTSW |
7 |
105,017,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9054:Or52w1
|
UTSW |
7 |
105,017,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation