Incidental Mutation 'IGL02936:Or52b1'
| ID |
364303 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52b1
|
| Ensembl Gene |
ENSMUSG00000050266 |
| Gene Name |
olfactory receptor family 52 subfamily B member 1 |
| Synonyms |
Olfr690, GA_x6K02T2PBJ9-7959171-7958224, MOR31-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
IGL02936
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104978424-104979485 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 104979212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 62
(Y62*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061920]
[ENSMUST00000211006]
[ENSMUST00000216230]
|
| AlphaFold |
Q8VH18 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061920
AA Change: Y62*
|
| SMART Domains |
Protein: ENSMUSP00000061272
Gene: ENSMUSG00000050266
AA Change: Y62*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
19 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
33 |
312 |
2e-110 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
264 |
1.4e-9 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
1.7e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209868
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211006
AA Change: Y62*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216230
AA Change: Y62*
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
G |
A |
9: 57,165,687 (GRCm39) |
T229I |
possibly damaging |
Het |
| Acad11 |
T |
C |
9: 103,990,711 (GRCm39) |
S439P |
probably benign |
Het |
| Acer2 |
A |
T |
4: 86,818,796 (GRCm39) |
N148I |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,785,833 (GRCm39) |
I860V |
probably benign |
Het |
| Asb2 |
A |
G |
12: 103,302,173 (GRCm39) |
I125T |
probably benign |
Het |
| Atp13a2 |
G |
T |
4: 140,729,260 (GRCm39) |
L614F |
probably benign |
Het |
| Car7 |
A |
G |
8: 105,274,854 (GRCm39) |
T132A |
possibly damaging |
Het |
| Cfap221 |
T |
C |
1: 119,912,482 (GRCm39) |
D135G |
probably damaging |
Het |
| Crtc3 |
A |
G |
7: 80,239,511 (GRCm39) |
F614L |
probably damaging |
Het |
| Csn3 |
T |
G |
5: 88,077,992 (GRCm39) |
I166S |
possibly damaging |
Het |
| Dna2 |
T |
G |
10: 62,792,879 (GRCm39) |
L298R |
probably damaging |
Het |
| Ece1 |
T |
C |
4: 137,673,612 (GRCm39) |
S387P |
probably benign |
Het |
| Fbxo28 |
C |
T |
1: 182,169,093 (GRCm39) |
G15D |
unknown |
Het |
| Fbxw24 |
A |
T |
9: 109,454,026 (GRCm39) |
|
probably null |
Het |
| Foxd3 |
T |
A |
4: 99,545,052 (GRCm39) |
V64E |
probably benign |
Het |
| Galnt7 |
A |
C |
8: 58,037,248 (GRCm39) |
V47G |
probably benign |
Het |
| Gcc2 |
A |
T |
10: 58,131,962 (GRCm39) |
L1453F |
probably damaging |
Het |
| Gcnt4 |
G |
A |
13: 97,082,919 (GRCm39) |
V72I |
probably benign |
Het |
| Gm10269 |
A |
C |
18: 20,816,010 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
G |
1: 150,573,273 (GRCm39) |
Q2125H |
probably damaging |
Het |
| Iho1 |
T |
C |
9: 108,289,702 (GRCm39) |
I173M |
possibly damaging |
Het |
| Llcfc1 |
T |
A |
6: 41,661,593 (GRCm39) |
S48T |
probably benign |
Het |
| Met |
G |
T |
6: 17,553,396 (GRCm39) |
V1061F |
probably damaging |
Het |
| Mthfd2 |
G |
A |
6: 83,288,342 (GRCm39) |
H138Y |
probably damaging |
Het |
| Mtus1 |
A |
T |
8: 41,452,554 (GRCm39) |
D1041E |
possibly damaging |
Het |
| Mug2 |
G |
A |
6: 122,058,346 (GRCm39) |
|
probably null |
Het |
| Nos3 |
C |
T |
5: 24,585,991 (GRCm39) |
T878I |
probably damaging |
Het |
| Or4c15 |
A |
G |
2: 88,760,128 (GRCm39) |
M177T |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,783,470 (GRCm39) |
V497D |
probably damaging |
Het |
| Plcd1 |
T |
C |
9: 118,903,267 (GRCm39) |
E471G |
probably damaging |
Het |
| Poc1a |
A |
G |
9: 106,162,226 (GRCm39) |
T84A |
probably damaging |
Het |
| Ppm1f |
A |
G |
16: 16,733,100 (GRCm39) |
H209R |
probably damaging |
Het |
| Rccd1 |
T |
A |
7: 79,966,794 (GRCm39) |
K329N |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,678,865 (GRCm39) |
N245I |
possibly damaging |
Het |
| Slc22a26 |
A |
C |
19: 7,768,470 (GRCm39) |
F196V |
probably damaging |
Het |
| Tial1 |
G |
A |
7: 128,044,387 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,946,193 (GRCm39) |
|
probably null |
Het |
| Vmn1r15 |
A |
T |
6: 57,235,803 (GRCm39) |
K224* |
probably null |
Het |
| Wdr72 |
A |
T |
9: 74,059,862 (GRCm39) |
D424V |
probably damaging |
Het |
| Wt1 |
A |
G |
2: 104,999,384 (GRCm39) |
K308E |
probably damaging |
Het |
| Zwint |
T |
C |
10: 72,492,956 (GRCm39) |
S193P |
probably damaging |
Het |
|
| Other mutations in Or52b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01061:Or52b1
|
APN |
7 |
104,978,589 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01403:Or52b1
|
APN |
7 |
104,978,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01546:Or52b1
|
APN |
7 |
104,978,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Or52b1
|
UTSW |
7 |
104,979,090 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0206:Or52b1
|
UTSW |
7 |
104,979,090 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1425:Or52b1
|
UTSW |
7 |
104,978,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Or52b1
|
UTSW |
7 |
104,978,590 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2126:Or52b1
|
UTSW |
7 |
104,978,459 (GRCm39) |
nonsense |
probably null |
|
|
R2511:Or52b1
|
UTSW |
7 |
104,978,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Or52b1
|
UTSW |
7 |
104,979,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3755:Or52b1
|
UTSW |
7 |
104,979,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4152:Or52b1
|
UTSW |
7 |
104,978,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4153:Or52b1
|
UTSW |
7 |
104,978,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4154:Or52b1
|
UTSW |
7 |
104,978,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4247:Or52b1
|
UTSW |
7 |
104,979,355 (GRCm39) |
missense |
probably benign |
|
|
R5015:Or52b1
|
UTSW |
7 |
104,978,811 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5143:Or52b1
|
UTSW |
7 |
104,978,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Or52b1
|
UTSW |
7 |
104,978,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6747:Or52b1
|
UTSW |
7 |
104,979,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6961:Or52b1
|
UTSW |
7 |
104,978,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7074:Or52b1
|
UTSW |
7 |
104,978,475 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8066:Or52b1
|
UTSW |
7 |
104,978,761 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9273:Or52b1
|
UTSW |
7 |
104,978,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Or52b1
|
UTSW |
7 |
104,979,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation