Mutagenetix > Incidental Mutation

Incidental Mutation 'R2268:Opcml'

242239

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

040268-MU

Accession Numbers

Essential gene?

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

Stock #

R2268 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27702071-28836706 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28814651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 301 (I301T)

Ref Sequence

ENSEMBL: ENSMUSP00000110898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073822] [ENSMUST00000115243]

AlphaFold

G5E8G3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073822
AA Change: I309T

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000073493
Gene: ENSMUSG00000062257
AA Change: I309T

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: I301T

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110898
Gene: ENSMUSG00000062257
AA Change: I301T

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

0.1769

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (82/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	T	14: 8,253,496 (GRCm38)	M217K	probably damaging	Het
Adam34	C	T	8: 44,103,647 (GRCm39)	R666H	probably benign	Het
Adap2	G	T	11: 80,056,552 (GRCm39)	Q188H	probably damaging	Het
Adgrb3	T	C	1: 25,150,898 (GRCm39)	T872A	possibly damaging	Het
Ahnak	A	G	19: 8,987,938 (GRCm39)	K3074R	possibly damaging	Het
Ano7	A	T	1: 93,308,161 (GRCm39)	D64V	possibly damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Arl13a	A	G	X: 133,106,162 (GRCm39)	Q236R	possibly damaging	Het
Astn1	T	C	1: 158,329,669 (GRCm39)	Y175H	probably damaging	Het
Atn1	C	G	6: 124,723,203 (GRCm39)		probably benign	Het
Ccser1	C	T	6: 61,547,827 (GRCm39)	T118M	probably damaging	Het
Cenpe	A	G	3: 134,967,397 (GRCm39)	T2180A	probably benign	Het
Col17a1	G	A	19: 47,638,550 (GRCm39)	P1173S	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
Cyp4f17	G	T	17: 32,736,928 (GRCm39)	V87F	probably benign	Het
D2hgdh	C	T	1: 93,763,157 (GRCm39)	A314V	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Dhodh	A	G	8: 110,321,306 (GRCm39)	F360S	possibly damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dynap	C	T	18: 70,374,218 (GRCm39)	A103T	probably benign	Het
Edem2	G	A	2: 155,544,137 (GRCm39)	P538S	probably benign	Het
Egfl8	C	T	17: 34,832,832 (GRCm39)	V253M	probably damaging	Het
Erich6	A	T	3: 58,526,260 (GRCm39)	S581T	probably benign	Het
Fam117b	T	C	1: 59,952,789 (GRCm39)	L156P	probably damaging	Het
Fbn1	G	T	2: 125,163,661 (GRCm39)	A2065E	possibly damaging	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Fzd9	A	G	5: 135,279,148 (GRCm39)	S246P	probably damaging	Het
Hdhd2	C	T	18: 77,052,866 (GRCm39)	T172M	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hmcn1	A	G	1: 150,500,349 (GRCm39)		probably benign	Het
Hps3	G	A	3: 20,067,099 (GRCm39)		probably benign	Het
Hr	A	T	14: 70,795,547 (GRCm39)	D393V	probably benign	Het
Ido2	T	C	8: 25,025,268 (GRCm39)	Y253C	probably damaging	Het
Irs2	T	C	8: 11,057,586 (GRCm39)	E282G	probably damaging	Het
Itih4	A	G	14: 30,614,385 (GRCm39)	D445G	probably damaging	Het
Kif14	T	A	1: 136,447,486 (GRCm39)	C1430*	probably null	Het
Kir3dl1	A	G	X: 135,425,784 (GRCm39)	R53G	probably benign	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lamb1	A	T	12: 31,377,644 (GRCm39)	I1630F	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Magi3	G	A	3: 103,928,382 (GRCm39)		probably benign	Het
Mink1	G	A	11: 70,492,550 (GRCm39)		probably null	Het
Mmrn2	A	G	14: 34,121,449 (GRCm39)	K773R	probably benign	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtbp	G	A	15: 55,432,556 (GRCm39)		probably null	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Myoc	C	T	1: 162,476,625 (GRCm39)	T443M	probably damaging	Het
Nav1	A	T	1: 135,399,974 (GRCm39)	L532*	probably null	Het
Nbeal1	T	A	1: 60,370,037 (GRCm39)		probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Or10ak16	A	T	4: 118,751,071 (GRCm39)	R264W	probably damaging	Het
Or8b1	T	A	9: 38,399,504 (GRCm39)	Y60N	probably damaging	Het
Pappa2	A	G	1: 158,684,841 (GRCm39)	M766T	probably damaging	Het
Phf8	T	C	X: 150,355,597 (GRCm39)	L520S	possibly damaging	Het
Phka1	A	G	X: 101,584,716 (GRCm39)		probably benign	Het
Ppp2ca	G	A	11: 52,008,913 (GRCm39)	G138R	probably damaging	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Rdh7	A	G	10: 127,720,530 (GRCm39)	S281P	probably benign	Het
Rps17	C	T	7: 80,994,746 (GRCm39)	R5H	probably benign	Het
Scgb1b2	T	A	7: 30,991,201 (GRCm39)		probably benign	Het
Skic3	T	G	13: 76,260,393 (GRCm39)		probably benign	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Snap23	A	G	2: 120,429,793 (GRCm39)	T213A	probably benign	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Srebf1	A	G	11: 60,097,973 (GRCm39)	S44P	probably damaging	Het
St8sia5	T	C	18: 77,320,526 (GRCm39)	S93P	probably damaging	Het
Styk1	T	C	6: 131,289,539 (GRCm39)	E25G	probably benign	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tbc1d22b	A	G	17: 29,818,828 (GRCm39)	H394R	probably damaging	Het
Tbx5	A	T	5: 119,983,174 (GRCm39)		probably null	Het
Tgfbr3l	A	G	8: 4,300,506 (GRCm39)	E228G	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tymp	A	T	15: 89,258,011 (GRCm39)	V378D	probably damaging	Het
Vangl1	A	T	3: 102,104,160 (GRCm39)	Y7N	probably damaging	Het
Vav2	A	T	2: 27,182,667 (GRCm39)		probably null	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r15	A	G	5: 109,441,073 (GRCm39)	Y262H	probably benign	Het
Vmn2r76	T	C	7: 85,879,707 (GRCm39)	M198V	probably benign	Het
Zfp831	A	C	2: 174,486,034 (GRCm39)	R236S	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
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
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'- TGCATCCTTTGAGTGCCTGC -3'
(R):5'- ACCTTGGACACATGACTGC -3'

Sequencing Primer
(F):5'- TGAGTGCCTGCTGCTTC -3'
(R):5'- ACAGGCCAAGCAGATTCT -3'

Posted On

2014-10-16