Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:Opcml'

676772

Institutional Source

Beutler Lab

Gene Symbol

Opcml

Ensembl Gene

ENSMUSG00000062257

Gene Name

opioid binding protein/cell adhesion molecule-like

Synonyms

Obcam, B930023M13Rik, 2900075O15Rik, LOC235104

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27790775-28925410 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28902151 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 246 (F246S)

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: F254S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073493
Gene: ENSMUSG00000062257
AA Change: F254S

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: F246S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110898
Gene: ENSMUSG00000062257
AA Change: F246S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	T	15: 58,022,509	V326M	probably damaging	Het
Adap2	T	A	11: 80,156,959	H80Q	probably benign	Het
Ang4	T	C	14: 51,764,486	T2A	probably benign	Het
Arf2	T	C	11: 103,979,759		probably null	Het
B3gnt4	A	G	5: 123,511,148	D192G	probably damaging	Het
BC034090	T	C	1: 155,226,357	I54V	probably benign	Het
Catsper3	A	G	13: 55,804,895	T202A	probably benign	Het
Cenpe	T	A	3: 135,260,101	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,773,705	V191A	probably benign	Het
Col5a1	G	T	2: 28,014,158	A1356S	unknown	Het
Cuzd1	A	G	7: 131,308,848	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,681,885	M215I	possibly damaging	Het
Dcaf17	T	A	2: 71,063,402	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,573,809	I232V	probably benign	Het
Dnah10	A	G	5: 124,818,117	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,714,704		probably benign	Het
Ehd1	A	G	19: 6,298,324	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,836,476	M766L	possibly damaging	Het
Eno4	A	G	19: 58,970,722	I613M	probably benign	Het
Exoc3l	A	T	8: 105,290,549	M602K		Het
Fam107a	C	T	14: 8,301,352		probably null	Het
Frem3	A	T	8: 80,613,148	D690V	probably damaging	Het
Gm11639	T	C	11: 104,690,955	I41T	probably benign	Het
Gm19410	A	T	8: 35,771,868	D97V	probably damaging	Het
Grik5	T	A	7: 25,023,064	D540V	possibly damaging	Het
Hint1	T	A	11: 54,869,943	D69E	probably benign	Het
Krt13	T	C	11: 100,119,385	T257A	probably benign	Het
Lpin2	T	C	17: 71,242,754	L676P	probably damaging	Het
Lrguk	A	G	6: 34,029,683	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,256,298	M375V	probably benign	Het
Lrrtm3	T	C	10: 64,089,238	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,976,529	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,001,784	I135T	probably damaging	Het
Neb	T	C	2: 52,235,580	D475G		Het
Notch2	A	G	3: 98,135,599	S1427G	possibly damaging	Het
Olfr118	C	A	17: 37,672,411	Y129*	probably null	Het
Olfr682-ps1	A	G	7: 105,126,686	V195A	probably benign	Het
Olfr694	A	T	7: 106,689,089	I214N	probably damaging	Het
Olfr816	A	G	10: 129,911,862	C139R	probably damaging	Het
Olfr952	A	C	9: 39,426,219	V284G	possibly damaging	Het
Pdzd2	C	A	15: 12,402,319	V729F	probably damaging	Het
Pias2	C	T	18: 77,146,768	Q565*	probably null	Het
Pnp	T	A	14: 50,950,720		probably null	Het
Ptpn18	T	C	1: 34,463,130	S76P	probably benign	Het
Qtrt2	A	T	16: 43,863,197	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,457,400	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,477,889	V1477E	probably benign	Het
Repin1	C	T	6: 48,597,433	T432I	possibly damaging	Het
Rest	G	A	5: 77,282,511	G926R	probably benign	Het
Rnft1	T	A	11: 86,486,690	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,232,094	I415L	probably benign	Het
Slc10a1	T	A	12: 80,967,595	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,059,709		probably benign	Het
Slc2a2	T	C	3: 28,713,802	S160P	possibly damaging	Het
Srrd	A	G	5: 112,338,456	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,921,961	G198C	probably benign	Het
Trbv29	G	A	6: 41,271,405	M1I	probably null	Het
Tril	A	G	6: 53,819,584	S218P	probably damaging	Het
Trip11	T	C	12: 101,862,598	K1749R	probably benign	Het
Ttc25	G	T	11: 100,566,926	E452*	probably null	Het
Ttn	A	G	2: 76,830,651	V12011A		Het
Ubr4	T	G	4: 139,410,518	F1093V	probably benign	Het
Urb2	C	A	8: 124,028,403	A283E	probably benign	Het
Usp43	T	A	11: 67,898,881		probably benign	Het
Vmn1r28	A	T	6: 58,265,684	I171F	probably benign	Het
Vps33a	G	A	5: 123,533,899	R469W	probably damaging	Het
Zfp202	G	A	9: 40,211,757	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,554,620	H158L	probably benign	Het

Other mutations in Opcml

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8350:Opcml	UTSW	9	28902167	missense	probably benign	0.00
R8772:Opcml	UTSW	9	27791411	missense	probably benign	0.04
R9355:Opcml	UTSW	9	28903354	missense	probably benign	0.00
R9364:Opcml	UTSW	9	28903328	missense	probably damaging	1.00
R9385:Opcml	UTSW	9	28675163	missense	possibly damaging	0.62
Z1177:Opcml	UTSW	9	28404377	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCACAGCGAATGGATATTTGTC -3'
(R):5'- CAATCCATTTTGTTGAGTTCTCAGC -3'

Sequencing Primer
(F):5'- CACAGCGAATGGATATTTGTCTTCTC -3'
(R):5'- GTTGAGTTCTCAGCTCCCTC -3'

Posted On

2021-07-15