Incidental Mutation 'R4173:Opcml'
| ID |
318208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Opcml
|
| Ensembl Gene |
ENSMUSG00000062257 |
| Gene Name |
opioid binding protein/cell adhesion molecule-like |
| Synonyms |
2900075O15Rik, B930023M13Rik, Obcam, LOC235104 |
| MMRRC Submission |
041012-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R4173 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
27702071-28836706 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28814654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 302
(T302I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073822]
[ENSMUST00000115243]
|
| AlphaFold |
G5E8G3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073822
AA Change: T310I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073493
Gene: ENSMUSG00000062257
AA Change: T310I
| 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 benign
Transcript: ENSMUST00000115243
AA Change: T302I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110898
Gene: ENSMUSG00000062257
AA Change: T302I
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
| Cdk1 |
T |
C |
10: 69,180,991 (GRCm39) |
D73G |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,795,214 (GRCm39) |
E983G |
probably damaging |
Het |
| Gnmt |
A |
G |
17: 47,037,047 (GRCm39) |
V217A |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,153,540 (GRCm39) |
E142G |
probably damaging |
Het |
| Nr1h5 |
C |
T |
3: 102,859,546 (GRCm39) |
R171H |
probably damaging |
Het |
| Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,145,676 (GRCm39) |
V589A |
probably damaging |
Het |
| Pigl |
T |
A |
11: 62,349,337 (GRCm39) |
F18I |
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,613,201 (GRCm39) |
K265R |
probably benign |
Het |
| Rora |
C |
A |
9: 68,561,192 (GRCm39) |
T35K |
probably benign |
Het |
| Serpinb9e |
A |
G |
13: 33,439,141 (GRCm39) |
N189S |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc25a45 |
C |
A |
19: 5,930,611 (GRCm39) |
Y99* |
probably null |
Het |
| Smgc |
T |
C |
15: 91,744,759 (GRCm39) |
S655P |
possibly damaging |
Het |
| Thbs2 |
A |
C |
17: 14,901,893 (GRCm39) |
|
probably null |
Het |
| Timd2 |
T |
C |
11: 46,561,787 (GRCm39) |
T286A |
probably benign |
Het |
| Trav6d-3 |
A |
G |
14: 52,962,806 (GRCm39) |
I14M |
probably benign |
Het |
| Trim28 |
A |
G |
7: 12,763,805 (GRCm39) |
D622G |
probably benign |
Het |
| Txnl4b |
G |
A |
8: 110,295,706 (GRCm39) |
V37I |
probably benign |
Het |
| Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
| Vps13c |
A |
G |
9: 67,843,595 (GRCm39) |
N1959D |
probably benign |
Het |
| Xkr4 |
A |
G |
1: 3,286,711 (GRCm39) |
F493S |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,889,612 (GRCm39) |
V665A |
probably damaging |
Het |
|
| Other mutations in Opcml |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00864:Opcml
|
APN |
9 |
28,812,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTTTGAGTGCCTGCTGC -3'
(R):5'- ATTACCTTGGACACATGACTGC -3'
Sequencing Primer
(F):5'- GAGTGCCTGCTGCTTCTCTTG -3'
(R):5'- ACAGGCCAAGCAGATTCT -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation