Incidental Mutation 'IGL00864:Opcml'
| ID |
12866 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Opcml
|
| Ensembl Gene |
ENSMUSG00000062257 |
| Gene Name |
opioid binding protein/cell adhesion molecule-like |
| Synonyms |
2900075O15Rik, B930023M13Rik, Obcam, LOC235104 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL00864
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
27702071-28836706 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 28812887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 193
(E193A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073822]
[ENSMUST00000115243]
|
| AlphaFold |
G5E8G3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073822
AA Change: E201A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073493
Gene: ENSMUSG00000062257
AA Change: E201A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
42 |
133 |
2.94e-10 |
SMART |
|
IGc2
|
148 |
209 |
2.91e-14 |
SMART |
|
IGc2
|
235 |
303 |
2e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115243
AA Change: E193A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110898
Gene: ENSMUSG00000062257
AA Change: E193A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
35 |
126 |
2.94e-10 |
SMART |
|
IGc2
|
141 |
201 |
1.36e-14 |
SMART |
|
IGc2
|
227 |
295 |
2e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215483
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IgLON subfamily in the immunoglobulin protein superfamily of proteins. The encoded preprotein is proteolytically processed to generate the mature protein. This protein is localized in the plasma membrane and may have an accessory role in opioid receptor function. This gene has an ortholog in rat and bovine. The opioid binding-cell adhesion molecule encoded by the rat gene binds opioid alkaloids in the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protein. Since the encoded protein is highly conserved in species during evolution, it may have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,092,895 (GRCm39) |
D142G |
probably damaging |
Het |
| Ap2b1 |
A |
C |
11: 83,223,984 (GRCm39) |
D195A |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,655,503 (GRCm39) |
I1171K |
probably benign |
Het |
| Atm |
T |
C |
9: 53,445,233 (GRCm39) |
S2G |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Ephx1 |
A |
G |
1: 180,818,016 (GRCm39) |
S356P |
probably damaging |
Het |
| H1f8 |
A |
G |
6: 115,925,587 (GRCm39) |
K128R |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,313,738 (GRCm39) |
I6T |
probably benign |
Het |
| Itm2b |
T |
C |
14: 73,600,575 (GRCm39) |
K242E |
probably damaging |
Het |
| Kcnq5 |
T |
A |
1: 21,575,987 (GRCm39) |
Q239L |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,175,297 (GRCm39) |
S403P |
probably damaging |
Het |
| Ola1 |
A |
T |
2: 72,987,241 (GRCm39) |
D130E |
probably benign |
Het |
| Rab44 |
T |
C |
17: 29,358,711 (GRCm39) |
S300P |
probably benign |
Het |
| Sergef |
C |
A |
7: 46,165,087 (GRCm39) |
|
probably null |
Het |
| Slc6a2 |
T |
C |
8: 93,722,622 (GRCm39) |
F540L |
probably benign |
Het |
| Spag6l |
A |
G |
16: 16,598,597 (GRCm39) |
V298A |
probably benign |
Het |
| Svep1 |
G |
T |
4: 58,068,533 (GRCm39) |
Y3084* |
probably null |
Het |
| Tbc1d4 |
T |
A |
14: 101,682,002 (GRCm39) |
D1235V |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,102,206 (GRCm39) |
L499P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,544,178 (GRCm39) |
S24609F |
probably damaging |
Het |
|
| Other mutations in Opcml |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00864:Opcml
|
APN |
9 |
28,812,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00956:Opcml
|
APN |
9 |
28,586,624 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02391:Opcml
|
APN |
9 |
28,586,560 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03210:Opcml
|
APN |
9 |
28,812,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0373:Opcml
|
UTSW |
9 |
28,724,694 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1037:Opcml
|
UTSW |
9 |
28,814,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1564:Opcml
|
UTSW |
9 |
28,814,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2094:Opcml
|
UTSW |
9 |
28,812,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:Opcml
|
UTSW |
9 |
28,814,651 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2426:Opcml
|
UTSW |
9 |
28,814,663 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2938:Opcml
|
UTSW |
9 |
27,702,682 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R3746:Opcml
|
UTSW |
9 |
28,812,826 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4058:Opcml
|
UTSW |
9 |
28,812,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4173:Opcml
|
UTSW |
9 |
28,814,654 (GRCm39) |
missense |
probably benign |
|
|
R4882:Opcml
|
UTSW |
9 |
28,812,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5335:Opcml
|
UTSW |
9 |
28,586,621 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7058:Opcml
|
UTSW |
9 |
28,586,507 (GRCm39) |
nonsense |
probably null |
|
|
R7559:Opcml
|
UTSW |
9 |
28,814,620 (GRCm39) |
missense |
probably benign |
|
|
R8050:Opcml
|
UTSW |
9 |
28,724,640 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8250:Opcml
|
UTSW |
9 |
28,586,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Opcml
|
UTSW |
9 |
28,813,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8772:Opcml
|
UTSW |
9 |
27,702,707 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8879:Opcml
|
UTSW |
9 |
28,813,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9355:Opcml
|
UTSW |
9 |
28,814,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9364:Opcml
|
UTSW |
9 |
28,814,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9385:Opcml
|
UTSW |
9 |
28,586,459 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Z1177:Opcml
|
UTSW |
9 |
28,315,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation