Incidental Mutation 'IGL01831:Or56b1'
| ID |
154784 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or56b1
|
| Ensembl Gene |
ENSMUSG00000073923 |
| Gene Name |
olfactory receptor family 56 subfamily B member 1 |
| Synonyms |
MOR40-13, GA_x6K02T2PBJ9-7263864-7264823, Olfr657 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL01831
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104284883-104285842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 104285267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 129
(Y129D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098171]
[ENSMUST00000213297]
[ENSMUST00000215454]
|
| AlphaFold |
Q7TRP7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098171
AA Change: Y129D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095773
Gene: ENSMUSG00000073923
AA Change: Y129D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
315 |
6.2e-74 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
40 |
312 |
1.2e-8 |
PFAM |
|
Pfam:7tm_1
|
47 |
297 |
9.3e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213297
AA Change: Y129D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215454
AA Change: Y129D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| 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: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
G |
T |
4: 129,903,187 (GRCm39) |
D596Y |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,752,807 (GRCm39) |
R626G |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,671,833 (GRCm39) |
F394S |
probably damaging |
Het |
| Galk2 |
C |
A |
2: 125,817,277 (GRCm39) |
N344K |
probably benign |
Het |
| Gm20507 |
T |
C |
17: 33,861,038 (GRCm39) |
|
probably benign |
Het |
| Igkv2-112 |
A |
T |
6: 68,197,481 (GRCm39) |
Y50F |
possibly damaging |
Het |
| Itgb1bp1 |
A |
T |
12: 21,329,469 (GRCm39) |
F2I |
unknown |
Het |
| Klhl6 |
C |
T |
16: 19,772,235 (GRCm39) |
C370Y |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,709,900 (GRCm39) |
H242R |
probably damaging |
Het |
| Pja2 |
A |
T |
17: 64,616,402 (GRCm39) |
H164Q |
probably benign |
Het |
| Plau |
T |
A |
14: 20,887,838 (GRCm39) |
|
probably benign |
Het |
| Snx4 |
C |
T |
16: 33,104,792 (GRCm39) |
R247* |
probably null |
Het |
|
| Other mutations in Or56b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01791:Or56b1
|
APN |
7 |
104,285,682 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01815:Or56b1
|
APN |
7 |
104,285,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02285:Or56b1
|
APN |
7 |
104,284,932 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1529:Or56b1
|
UTSW |
7 |
104,285,696 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1775:Or56b1
|
UTSW |
7 |
104,285,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2356:Or56b1
|
UTSW |
7 |
104,285,834 (GRCm39) |
nonsense |
probably null |
|
|
R3809:Or56b1
|
UTSW |
7 |
104,285,540 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4011:Or56b1
|
UTSW |
7 |
104,285,555 (GRCm39) |
missense |
probably benign |
|
|
R4206:Or56b1
|
UTSW |
7 |
104,285,356 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4520:Or56b1
|
UTSW |
7 |
104,285,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4551:Or56b1
|
UTSW |
7 |
104,285,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Or56b1
|
UTSW |
7 |
104,285,234 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6394:Or56b1
|
UTSW |
7 |
104,284,909 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6477:Or56b1
|
UTSW |
7 |
104,284,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6727:Or56b1
|
UTSW |
7 |
104,285,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7554:Or56b1
|
UTSW |
7 |
104,285,733 (GRCm39) |
missense |
probably benign |
|
|
R8435:Or56b1
|
UTSW |
7 |
104,285,657 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8557:Or56b1
|
UTSW |
7 |
104,285,103 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9021:Or56b1
|
UTSW |
7 |
104,285,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9023:Or56b1
|
UTSW |
7 |
104,285,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9024:Or56b1
|
UTSW |
7 |
104,285,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9072:Or56b1
|
UTSW |
7 |
104,285,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9072:Or56b1
|
UTSW |
7 |
104,285,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9073:Or56b1
|
UTSW |
7 |
104,285,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9074:Or56b1
|
UTSW |
7 |
104,285,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9076:Or56b1
|
UTSW |
7 |
104,285,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9077:Or56b1
|
UTSW |
7 |
104,285,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9077:Or56b1
|
UTSW |
7 |
104,285,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0065:Or56b1
|
UTSW |
7 |
104,285,401 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2014-02-04 |
Incidental Mutation