Incidental Mutation 'IGL03154:Or52b3'
| ID |
411197 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52b3
|
| Ensembl Gene |
ENSMUSG00000073977 |
| Gene Name |
olfactory receptor family 52 subfamily B member 3 |
| Synonyms |
MOR31-3, Olfr549, GA_x6K02T2PBJ9-5274337-5275287 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL03154
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102203493-102204443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 102203913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 141
(V141L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033264]
[ENSMUST00000098227]
[ENSMUST00000106913]
[ENSMUST00000217478]
|
| AlphaFold |
E9Q542 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033264
|
| SMART Domains |
Protein: ENSMUSP00000033264
Gene: ENSMUSG00000030966
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
12 |
50 |
6e-8 |
SMART |
|
BBOX
|
83 |
124 |
2.71e-15 |
SMART |
|
coiled coil region
|
184 |
242 |
N/A |
INTRINSIC |
|
PRY
|
282 |
334 |
1.08e-23 |
SMART |
|
SPRY
|
335 |
461 |
8.9e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098227
AA Change: V141L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095829
Gene: ENSMUSG00000073977
AA Change: V141L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
1.7e-105 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
225 |
1.2e-11 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
1e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106913
|
| SMART Domains |
Protein: ENSMUSP00000102526
Gene: ENSMUSG00000030966
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
12 |
50 |
6e-8 |
SMART |
|
BBOX
|
83 |
124 |
2.71e-15 |
SMART |
|
coiled coil region
|
184 |
242 |
N/A |
INTRINSIC |
|
PRY
|
282 |
334 |
1.08e-23 |
SMART |
|
SPRY
|
335 |
461 |
8.9e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217478
AA Change: V141L
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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
A |
G |
19: 20,608,132 (GRCm39) |
E318G |
probably benign |
Het |
| Alpi |
A |
T |
1: 87,027,810 (GRCm39) |
W257R |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,800,268 (GRCm39) |
E1253G |
probably damaging |
Het |
| Fbxw13 |
G |
T |
9: 109,010,533 (GRCm39) |
F368L |
probably damaging |
Het |
| H2-T9 |
T |
A |
17: 36,438,767 (GRCm39) |
N208I |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,851,907 (GRCm39) |
D3655E |
probably damaging |
Het |
| Hkdc1 |
T |
A |
10: 62,221,484 (GRCm39) |
D858V |
probably damaging |
Het |
| Ifi205 |
A |
C |
1: 173,845,232 (GRCm39) |
|
probably benign |
Het |
| Ighv10-3 |
T |
A |
12: 114,487,507 (GRCm39) |
M1L |
probably benign |
Het |
| Igkv4-90 |
C |
T |
6: 68,784,256 (GRCm39) |
G87R |
probably damaging |
Het |
| Insc |
G |
A |
7: 114,441,424 (GRCm39) |
G413S |
probably null |
Het |
| Iqch |
T |
A |
9: 63,361,964 (GRCm39) |
T850S |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,707 (GRCm39) |
Y137C |
probably damaging |
Het |
| Lhx6 |
A |
T |
2: 35,984,455 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,379,386 (GRCm39) |
S109P |
probably damaging |
Het |
| Mroh1 |
T |
C |
15: 76,337,038 (GRCm39) |
L1617P |
probably damaging |
Het |
| Or11g24 |
A |
T |
14: 50,662,080 (GRCm39) |
I35F |
probably benign |
Het |
| Or1j17 |
A |
T |
2: 36,578,655 (GRCm39) |
I214F |
possibly damaging |
Het |
| Or4d1 |
A |
T |
11: 87,805,072 (GRCm39) |
V220D |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,223,857 (GRCm39) |
V727A |
possibly damaging |
Het |
| Ralgapb |
A |
G |
2: 158,274,786 (GRCm39) |
H229R |
probably damaging |
Het |
| Rusc2 |
G |
A |
4: 43,425,806 (GRCm39) |
G1304S |
probably benign |
Het |
| Sbsn |
A |
G |
7: 30,451,153 (GRCm39) |
N56S |
possibly damaging |
Het |
| Skint8 |
T |
A |
4: 111,796,707 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
A |
T |
13: 3,625,255 (GRCm39) |
M1565K |
possibly damaging |
Het |
| Uso1 |
C |
A |
5: 92,328,477 (GRCm39) |
S358* |
probably null |
Het |
|
| Other mutations in Or52b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Or52b3
|
APN |
7 |
102,204,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02048:Or52b3
|
APN |
7 |
102,204,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02314:Or52b3
|
APN |
7 |
102,204,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0783:Or52b3
|
UTSW |
7 |
102,203,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2009:Or52b3
|
UTSW |
7 |
102,204,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Or52b3
|
UTSW |
7 |
102,204,267 (GRCm39) |
splice site |
probably null |
|
|
R3547:Or52b3
|
UTSW |
7 |
102,203,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Or52b3
|
UTSW |
7 |
102,203,928 (GRCm39) |
missense |
probably benign |
|
|
R7294:Or52b3
|
UTSW |
7 |
102,204,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7533:Or52b3
|
UTSW |
7 |
102,203,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9354:Or52b3
|
UTSW |
7 |
102,204,397 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9485:Or52b3
|
UTSW |
7 |
102,204,013 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0018:Or52b3
|
UTSW |
7 |
102,203,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Or52b3
|
UTSW |
7 |
102,204,178 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation