Incidental Mutation 'R3746:Opcml'
| ID |
309813 |
| 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 |
040732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R3746 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
27702071-28836706 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28812826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 173
(V173M)
|
| 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: V181M
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000073493
Gene: ENSMUSG00000062257
AA Change: V181M
| 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 |
possibly damaging
Transcript: ENSMUST00000115243
AA Change: V173M
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110898
Gene: ENSMUSG00000062257
AA Change: V173M
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
| Abcb5 |
T |
C |
12: 118,838,355 (GRCm39) |
D1069G |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,155,252 (GRCm39) |
V1164A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,752,537 (GRCm39) |
V345M |
probably damaging |
Het |
| Cln6 |
A |
G |
9: 62,754,284 (GRCm39) |
I109V |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,713,162 (GRCm39) |
F1604Y |
probably benign |
Het |
| Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
| Dip2c |
A |
T |
13: 9,651,509 (GRCm39) |
D674V |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,973,742 (GRCm39) |
S1935G |
probably benign |
Het |
| Eif3g |
G |
A |
9: 20,805,993 (GRCm39) |
R295C |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,206,963 (GRCm39) |
K998E |
probably damaging |
Het |
| Fam171b |
A |
T |
2: 83,709,944 (GRCm39) |
T539S |
probably damaging |
Het |
| Fer1l4 |
G |
T |
2: 155,876,968 (GRCm39) |
H1159N |
probably benign |
Het |
| Fsip1 |
A |
G |
2: 118,063,531 (GRCm39) |
C313R |
probably damaging |
Het |
| Gm37240 |
T |
G |
3: 84,426,919 (GRCm39) |
N168T |
probably benign |
Het |
| Gm7589 |
T |
C |
9: 59,053,138 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv20-101-2 |
A |
T |
6: 68,451,942 (GRCm39) |
I66L |
possibly damaging |
Het |
| Irf3 |
T |
C |
7: 44,648,297 (GRCm39) |
F54S |
probably damaging |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Lrp10 |
A |
T |
14: 54,706,723 (GRCm39) |
N520I |
possibly damaging |
Het |
| Map3k21 |
A |
G |
8: 126,661,839 (GRCm39) |
K479E |
probably damaging |
Het |
| Mpdz |
A |
C |
4: 81,281,384 (GRCm39) |
V609G |
probably damaging |
Het |
| Or51b6 |
T |
A |
7: 103,556,267 (GRCm39) |
M207K |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,770,477 (GRCm39) |
Y985F |
probably benign |
Het |
| Piezo1 |
G |
T |
8: 123,219,377 (GRCm39) |
F1084L |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,128,524 (GRCm39) |
*4060Q |
probably null |
Het |
| Plekhn1 |
T |
C |
4: 156,310,051 (GRCm39) |
T88A |
probably benign |
Het |
| Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
| Rmdn2 |
T |
A |
17: 79,977,981 (GRCm39) |
|
probably null |
Het |
| Selenom |
A |
G |
11: 3,467,132 (GRCm39) |
E137G |
probably benign |
Het |
| Slc38a7 |
A |
G |
8: 96,570,380 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,400,878 (GRCm39) |
|
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
| Supt16 |
A |
G |
14: 52,417,596 (GRCm39) |
L306P |
probably damaging |
Het |
| Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Trim63 |
G |
A |
4: 134,042,665 (GRCm39) |
C44Y |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
| Vmn1r4 |
A |
G |
6: 56,934,116 (GRCm39) |
R207G |
probably damaging |
Het |
| Vmn2r76 |
A |
G |
7: 85,874,763 (GRCm39) |
V738A |
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGGTCCATTATTATCCAATGCAC -3'
(R):5'- GGTCAGTTTAATCCTAGGCCCC -3'
Sequencing Primer
(F):5'- TATCCAATGCACTCAAAAAGTTAAGC -3'
(R):5'- AGTTTAATCCTAGGCCCCTTTCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation