Incidental Mutation 'IGL03210:Opcml'
ID413275
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: 0.102) question?
Stock #IGL03210
Quality Score
Status
Chromosome9
Chromosomal Location27790775-28925410 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28901537 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 175 (E175G)
Ref Sequence ENSEMBL: ENSMUSP00000110898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073822] [ENSMUST00000115243]
Predicted Effect probably damaging
Transcript: ENSMUST00000073822
AA Change: E183G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073493
Gene: ENSMUSG00000062257
AA Change: E183G

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: E175G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110898
Gene: ENSMUSG00000062257
AA Change: E175G

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: 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,284,438 F9L probably benign Het
Adora3 T C 3: 105,907,860 S163P probably benign Het
C3 G A 17: 57,215,846 Q1013* probably null Het
Cacna1b A T 2: 24,650,572 F1381Y probably benign Het
Dcdc2b T C 4: 129,611,785 K95R probably benign Het
Dnah8 A G 17: 30,815,665 E4186G probably damaging Het
Dock1 T C 7: 134,756,939 V374A possibly damaging Het
Gramd3 A G 18: 56,474,098 T95A probably benign Het
Grk2 C T 19: 4,287,829 E508K probably benign Het
Hmgb4 A G 4: 128,260,742 V11A probably benign Het
Knl1 G A 2: 119,070,617 S933N probably benign Het
Ldlrad3 G A 2: 102,069,926 probably benign Het
Lrrc37a T A 11: 103,499,505 Y1698F probably benign Het
Ms4a14 A G 19: 11,301,961 W1078R possibly damaging Het
Nol4l G A 2: 153,529,458 P102L probably benign Het
Nsun3 A G 16: 62,770,747 F178L probably damaging Het
Nup85 T A 11: 115,566,636 Y55N probably benign Het
Olfr1006 T C 2: 85,674,353 Y266C probably damaging Het
Olfr512 T A 7: 108,713,568 Y60N probably damaging Het
Olfr740 A T 14: 50,453,983 R310S probably benign Het
Pask A T 1: 93,319,992 W1074R possibly damaging Het
Pdzrn3 T C 6: 101,156,952 T439A possibly damaging Het
Pkd1l1 C A 11: 8,965,127 V138L unknown Het
Ptprj C A 2: 90,469,726 V244L probably benign Het
Rapgef5 A G 12: 117,742,872 K697E probably damaging Het
Rnf165 C A 18: 77,466,739 V60L probably damaging Het
Rp9 G T 9: 22,457,428 H78Q probably benign Het
Serpinb8 A G 1: 107,602,911 T140A probably damaging Het
Slc29a4 A T 5: 142,715,108 M203L probably damaging Het
Stag1 T A 9: 100,845,076 L363I possibly damaging Het
Susd1 T G 4: 59,333,035 probably null Het
Thoc3 A T 13: 54,466,222 M196K probably benign Het
Tnr A G 1: 159,888,310 T881A probably benign Het
Ttbk2 A G 2: 120,822,492 V17A probably damaging Het
Ttc41 T A 10: 86,724,414 probably null Het
Utp14b A G 1: 78,665,551 M389V probably benign Het
Utp4 T A 8: 106,916,256 H515Q probably benign Het
Xpo1 A G 11: 23,278,834 H223R probably benign Het
Xpot A G 10: 121,615,227 probably benign Het
Zfp455 A T 13: 67,207,049 H127L possibly damaging Het
Zscan4e T A 7: 11,307,532 M166L probably benign 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
IGL02391:Opcml APN 9 28675264 missense probably damaging 0.96
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 On2016-08-02