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

2900075O15Rik, B930023M13Rik, Obcam, LOC235104

MMRRC Submission

068747-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27702071-28836706 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28813447 bp (GRCm39)

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: 57,885,905 (GRCm39)	V326M	probably damaging	Het
Adap2	T	A	11: 80,047,785 (GRCm39)	H80Q	probably benign	Het
Ang4	T	C	14: 52,001,943 (GRCm39)	T2A	probably benign	Het
Arf2	T	C	11: 103,870,585 (GRCm39)		probably null	Het
B3gnt4	A	G	5: 123,649,211 (GRCm39)	D192G	probably damaging	Het
BC034090	T	C	1: 155,102,103 (GRCm39)	I54V	probably benign	Het
Catsper3	A	G	13: 55,952,708 (GRCm39)	T202A	probably benign	Het
Cenpe	T	A	3: 134,965,862 (GRCm39)	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,602,773 (GRCm39)	V191A	probably benign	Het
Col5a1	G	T	2: 27,904,170 (GRCm39)	A1356S	unknown	Het
Cuzd1	A	G	7: 130,910,577 (GRCm39)	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,589,168 (GRCm39)	M215I	possibly damaging	Het
Dcaf17	T	A	2: 70,893,746 (GRCm39)	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,431,006 (GRCm39)	I232V	probably benign	Het
Dnah10	A	G	5: 124,895,181 (GRCm39)	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,621,988 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,581,781 (GRCm39)	I41T	probably benign	Het
Ehd1	A	G	19: 6,348,354 (GRCm39)	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,726,488 (GRCm39)	M766L	possibly damaging	Het
Eno4	A	G	19: 58,959,154 (GRCm39)	I613M	probably benign	Het
Exoc3l	A	T	8: 106,017,181 (GRCm39)	M602K		Het
Fam107a	C	T	14: 8,301,352 (GRCm38)		probably null	Het
Frem3	A	T	8: 81,339,777 (GRCm39)	D690V	probably damaging	Het
Gm19410	A	T	8: 36,239,022 (GRCm39)	D97V	probably damaging	Het
Grik5	T	A	7: 24,722,489 (GRCm39)	D540V	possibly damaging	Het
Hint1	T	A	11: 54,760,769 (GRCm39)	D69E	probably benign	Het
Krt13	T	C	11: 100,010,211 (GRCm39)	T257A	probably benign	Het
Lpin2	T	C	17: 71,549,749 (GRCm39)	L676P	probably damaging	Het
Lrguk	A	G	6: 34,006,618 (GRCm39)	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,146,310 (GRCm39)	M375V	probably benign	Het
Lrrtm3	T	C	10: 63,925,017 (GRCm39)	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,953,513 (GRCm39)	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,185,767 (GRCm39)	I135T	probably damaging	Het
Neb	T	C	2: 52,125,592 (GRCm39)	D475G		Het
Notch2	A	G	3: 98,042,915 (GRCm39)	S1427G	possibly damaging	Het
Odad4	G	T	11: 100,457,752 (GRCm39)	E452*	probably null	Het
Or10al2	C	A	17: 37,983,302 (GRCm39)	Y129*	probably null	Het
Or2ag1b	A	T	7: 106,288,296 (GRCm39)	I214N	probably damaging	Het
Or56a42-ps1	A	G	7: 104,775,893 (GRCm39)	V195A	probably benign	Het
Or6c69	A	G	10: 129,747,731 (GRCm39)	C139R	probably damaging	Het
Or8g33	A	C	9: 39,337,515 (GRCm39)	V284G	possibly damaging	Het
Pdzd2	C	A	15: 12,402,405 (GRCm39)	V729F	probably damaging	Het
Pias2	C	T	18: 77,234,464 (GRCm39)	Q565*	probably null	Het
Pnp	T	A	14: 51,188,177 (GRCm39)		probably null	Het
Ptpn18	T	C	1: 34,502,211 (GRCm39)	S76P	probably benign	Het
Qtrt2	A	T	16: 43,683,560 (GRCm39)	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,507,401 (GRCm39)	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,313,711 (GRCm39)	V1477E	probably benign	Het
Repin1	C	T	6: 48,574,367 (GRCm39)	T432I	possibly damaging	Het
Rest	G	A	5: 77,430,358 (GRCm39)	G926R	probably benign	Het
Rnft1	T	A	11: 86,377,516 (GRCm39)	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,282,108 (GRCm39)	I415L	probably benign	Het
Slc10a1	T	A	12: 81,014,369 (GRCm39)	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,366,709 (GRCm39)		probably benign	Het
Slc2a2	T	C	3: 28,767,951 (GRCm39)	S160P	possibly damaging	Het
Srrd	A	G	5: 112,486,322 (GRCm39)	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,829,277 (GRCm39)	G198C	probably benign	Het
Trbv28	G	A	6: 41,248,339 (GRCm39)	M1I	probably null	Het
Tril	A	G	6: 53,796,569 (GRCm39)	S218P	probably damaging	Het
Trip11	T	C	12: 101,828,857 (GRCm39)	K1749R	probably benign	Het
Ttn	A	G	2: 76,660,995 (GRCm39)	V12011A		Het
Ubr4	T	G	4: 139,137,829 (GRCm39)	F1093V	probably benign	Het
Urb2	C	A	8: 124,755,142 (GRCm39)	A283E	probably benign	Het
Usp43	T	A	11: 67,789,707 (GRCm39)		probably benign	Het
Vmn1r28	A	T	6: 58,242,669 (GRCm39)	I171F	probably benign	Het
Vps33a	G	A	5: 123,671,962 (GRCm39)	R469W	probably damaging	Het
Zfp202	G	A	9: 40,123,053 (GRCm39)	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,445,446 (GRCm39)	H158L	probably benign	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
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
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'- TGTCACAGCGAATGGATATTTGTC -3'
(R):5'- CAATCCATTTTGTTGAGTTCTCAGC -3'

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

Posted On

2021-07-15