Incidental Mutation 'IGL02391:Opcml'
ID293850
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Opcml
Ensembl Gene ENSMUSG00000062257
Gene Nameopioid binding protein/cell adhesion molecule-like
SynonymsObcam, B930023M13Rik, 2900075O15Rik, LOC235104
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #IGL02391
Quality Score
Status
Chromosome9
Chromosomal Location27790775-28925410 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28675264 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 93 (I93V)
Ref Sequence ENSEMBL: ENSMUSP00000110898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073822] [ENSMUST00000115243]
Predicted Effect possibly damaging
Transcript: ENSMUST00000073822
AA Change: I100V

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073493
Gene: ENSMUSG00000062257
AA Change: I100V

DomainStartEndE-ValueType
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: I93V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110898
Gene: ENSMUSG00000062257
AA Change: I93V

DomainStartEndE-ValueType
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: ENSMUST00000126673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126845
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,553,352 N748Y probably damaging Het
Actbl2 A G 13: 111,255,167 D12G possibly damaging Het
Adamts10 T C 17: 33,528,811 S74P probably benign Het
Adprhl2 C T 4: 126,317,908 probably benign Het
Amn1 A G 6: 149,169,446 probably null Het
Antxr1 A T 6: 87,287,056 I144N probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cabp5 A T 7: 13,398,344 R13* probably null Het
Cacna1e A G 1: 154,421,113 Y1669H probably damaging Het
Ccdc174 A G 6: 91,898,282 E364G possibly damaging Het
Ccdc18 C T 5: 108,136,052 P74S probably damaging Het
Clec3a C T 8: 114,425,500 S82L probably benign Het
Cnih3 A G 1: 181,406,513 D43G probably damaging Het
Dpp10 G A 1: 123,650,358 T128M probably damaging Het
Edar A T 10: 58,628,581 F79I probably damaging Het
Eif2ak4 T A 2: 118,420,791 H199Q probably benign Het
Fermt1 A G 2: 132,941,951 L46P probably damaging Het
Glipr1 A G 10: 111,988,894 probably benign Het
Gsdmc T C 15: 63,803,579 N129S probably damaging Het
Ift88 T C 14: 57,481,414 S619P possibly damaging Het
Itga9 T A 9: 118,850,805 V262E probably benign Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mta1 T A 12: 113,136,583 I688N possibly damaging Het
Muc4 A T 16: 32,752,076 R651S probably benign Het
Olfr109 C T 17: 37,466,586 P127S probably damaging Het
Olfr1342 A G 4: 118,690,341 L37P probably damaging Het
Olfr824 A G 10: 130,126,904 V51A possibly damaging Het
Parg T G 14: 32,262,681 probably null Het
Rps3a3 A G 13: 108,670,883 probably benign Het
Safb T A 17: 56,600,813 probably benign Het
Sat2 G T 11: 69,622,749 C54F probably damaging Het
Scin T A 12: 40,077,531 Y420F probably benign Het
Slc22a29 A T 19: 8,169,353 S362T probably benign Het
Smchd1 T C 17: 71,431,259 D537G probably null Het
Spred3 A G 7: 29,166,405 S126P probably benign Het
Ssh1 C T 5: 113,942,517 E951K probably damaging Het
Ssmem1 A G 6: 30,512,442 E28G possibly damaging Het
Stox1 A T 10: 62,659,676 probably benign Het
Syn3 T C 10: 86,064,906 I373V probably benign Het
Tecrl A T 5: 83,354,827 F58L probably benign Het
Trp53bp1 T C 2: 121,202,710 N1655S possibly damaging Het
Usp2 G T 9: 44,091,227 Q147H probably damaging Het
Usp24 T A 4: 106,407,129 N1751K possibly damaging Het
Wipf1 T A 2: 73,434,143 D438V probably damaging Het
Other mutations in Opcml
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Opcml APN 9 28901590 missense probably damaging 1.00
IGL00864:Opcml APN 9 28901591 missense probably damaging 1.00
IGL00956:Opcml APN 9 28675328 missense possibly damaging 0.86
IGL03210:Opcml APN 9 28901537 missense probably damaging 0.99
R0373:Opcml UTSW 9 28813398 missense possibly damaging 0.48
R1037:Opcml UTSW 9 28903299 missense probably damaging 1.00
R1564:Opcml UTSW 9 28903316 missense probably damaging 1.00
R2094:Opcml UTSW 9 28901590 missense probably damaging 1.00
R2268:Opcml UTSW 9 28903355 missense possibly damaging 0.91
R2426:Opcml UTSW 9 28903367 critical splice donor site probably null
R2938:Opcml UTSW 9 27791386 start codon destroyed probably null 0.00
R3746:Opcml UTSW 9 28901530 missense possibly damaging 0.54
R4058:Opcml UTSW 9 28901588 missense probably damaging 1.00
R4173:Opcml UTSW 9 28903358 missense probably benign
R4882:Opcml UTSW 9 28901590 missense probably damaging 1.00
R5335:Opcml UTSW 9 28675325 missense possibly damaging 0.88
R7058:Opcml UTSW 9 28675211 nonsense probably null
R7559:Opcml UTSW 9 28903324 missense probably benign
R8050:Opcml UTSW 9 28813344 missense probably damaging 0.97
R8250:Opcml UTSW 9 28675270 missense probably damaging 1.00
Z1177:Opcml UTSW 9 28404377 missense probably damaging 0.99
Posted On2015-04-16