Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Opcml'

710266

Institutional Source

Beutler Lab

Gene Symbol

Opcml

Ensembl Gene

ENSMUSG00000062257

Gene Name

opioid binding protein/cell adhesion molecule-like

Synonyms

2900075O15Rik, B930023M13Rik, Obcam, LOC235104

Accession Numbers

Essential gene?

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

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27702071-28836706 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28586459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 59 (V59A)

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: V66A

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000073493
Gene: ENSMUSG00000062257
AA Change: V66A

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: V59A

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110898
Gene: ENSMUSG00000062257
AA Change: V59A

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: 98.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,207,966 (GRCm39)	I554T	possibly damaging	Het
Adamts7	C	A	9: 90,077,258 (GRCm39)	C1308*	probably null	Het
Ank2	A	G	3: 126,753,366 (GRCm39)	V305A	probably benign	Het
Apob	A	G	12: 8,056,399 (GRCm39)	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,477,887 (GRCm39)	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,322,551 (GRCm39)	Y29*	probably null	Het
Card11	C	A	5: 140,871,276 (GRCm39)	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,405,422 (GRCm39)	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,833,533 (GRCm39)	R211W	probably benign	Het
Cda	T	G	4: 138,078,598 (GRCm39)	I55L	probably benign	Het
Cdkl3	A	C	11: 51,926,779 (GRCm39)	E577D	probably benign	Het
Cel	T	C	2: 28,450,587 (GRCm39)	D146G	probably damaging	Het
Cfap251	T	C	5: 123,426,878 (GRCm39)	L919S	probably damaging	Het
Cmya5	A	G	13: 93,230,880 (GRCm39)	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,455,912 (GRCm39)	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473 (GRCm39)	Q1045*	probably null	Het
Csmd1	T	C	8: 16,034,756 (GRCm39)	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,601,069 (GRCm39)	R22C	probably benign	Het
Ddit4	A	G	10: 59,787,178 (GRCm39)	S53P	probably damaging	Het
Ddx52	G	T	11: 83,843,096 (GRCm39)	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,361,972 (GRCm39)	L3677I	probably damaging	Het
Dscam	T	C	16: 96,840,203 (GRCm39)	T135A	probably benign	Het
Espl1	T	A	15: 102,207,185 (GRCm39)	D216E	probably damaging	Het
Fsip2	T	A	2: 82,819,793 (GRCm39)	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,074,120 (GRCm39)		probably benign	Het
Fyb1	A	G	15: 6,664,297 (GRCm39)	D460G	probably benign	Het
Gm3264	T	C	14: 16,058,217 (GRCm39)	I8T	possibly damaging	Het
Gsdmc	A	T	15: 63,675,486 (GRCm39)	Y110N	possibly damaging	Het
H13	A	G	2: 152,537,413 (GRCm39)	N286S	probably benign	Het
H2ac1	A	T	13: 24,118,679 (GRCm39)	I79F	probably damaging	Het
Heatr1	A	G	13: 12,421,423 (GRCm39)	D441G	probably damaging	Het
Hps6	A	G	19: 45,994,349 (GRCm39)	D762G	probably damaging	Het
Hyou1	C	A	9: 44,292,812 (GRCm39)	Q141K	probably benign	Het
Lpin3	T	C	2: 160,738,993 (GRCm39)	I267T	probably benign	Het
Mdc1	A	G	17: 36,161,396 (GRCm39)	K770E	probably benign	Het
Mlh3	C	T	12: 85,316,144 (GRCm39)	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,694,750 (GRCm39)	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,361,015 (GRCm39)	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,781,876 (GRCm39)	G527D	probably damaging	Het
Nop9	A	G	14: 55,988,584 (GRCm39)	E342G	probably benign	Het
Ntn1	C	A	11: 68,276,013 (GRCm39)	G312C	probably damaging	Het
Opn1sw	T	G	6: 29,379,425 (GRCm39)	Y193S	probably damaging	Het
Or10ad1c	C	T	15: 98,085,486 (GRCm39)	S64N	probably damaging	Het
Or5p54	T	A	7: 107,554,780 (GRCm39)	*311K	probably null	Het
Pabpc4l	A	T	3: 46,401,137 (GRCm39)	V169E	probably damaging	Het
Pde3a	A	G	6: 141,437,982 (GRCm39)	D1017G	probably benign	Het
Plagl2	C	T	2: 153,074,238 (GRCm39)	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,116,377 (GRCm39)	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,431,724 (GRCm39)	V571A	possibly damaging	Het
Pnma2	A	G	14: 67,153,371 (GRCm39)		probably benign	Het
Rnf123	T	A	9: 107,929,467 (GRCm39)	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc22a23	T	C	13: 34,528,561 (GRCm39)	S74G	probably benign	Het
Slc36a4	T	C	9: 15,645,563 (GRCm39)	I330T	probably damaging	Het
Snrk	A	T	9: 121,995,463 (GRCm39)	D414V	probably benign	Het
Snrnp200	G	A	2: 127,079,978 (GRCm39)		probably null	Het
Spata31d1b	T	C	13: 59,863,403 (GRCm39)	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,032,241 (GRCm39)	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,700,356 (GRCm39)	Q858K	probably damaging	Het
Tex55	T	G	16: 38,648,407 (GRCm39)	D234A	probably benign	Het
Tial1	A	G	7: 128,044,209 (GRCm39)	C102R	unknown	Het
Ugt8a	A	T	3: 125,665,263 (GRCm39)	D411E	probably benign	Het
Usp34	A	G	11: 23,399,223 (GRCm39)	D2404G		Het
Vmn1r10	A	C	6: 57,090,833 (GRCm39)	I142L	probably benign	Het
Wdr97	A	G	15: 76,240,367 (GRCm39)	T352A		Het
Xpo7	A	T	14: 70,925,733 (GRCm39)	D435E	probably damaging	Het
Zmym1	A	G	4: 126,952,683 (GRCm39)	S33P	probably damaging	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
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
Z1177:Opcml	UTSW	9	28,315,673 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTGCCTTGTGTTCAGGAAG -3'
(R):5'- CTTGCACTATGAGATGGACCCG -3'

Sequencing Primer
(F):5'- TTCTCCTGGCCATATAAAAACACATG -3'
(R):5'- GGAGGTTTTGGGGTGATTGTC -3'

Posted On

2022-04-18