Mutagenetix > Incidental Mutation

Incidental Mutation 'R8050:Opcml'

619001

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

067487-MU

Accession Numbers

Essential gene?

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

Stock #

R8050 (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 28724640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 146 (V146A)

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: V153A

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000073493
Gene: ENSMUSG00000062257
AA Change: V153A

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: V146A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110898
Gene: ENSMUSG00000062257
AA Change: V146A

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: 100.0%
10x: 99.7%
20x: 99.2%

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
2410002F23Rik	T	A	7: 43,900,677 (GRCm39)	V194E	possibly damaging	Het
Adgrv1	T	C	13: 81,561,296 (GRCm39)	N5406S	probably damaging	Het
Arhgef38	T	A	3: 132,843,323 (GRCm39)	R416*	probably null	Het
Asb7	T	A	7: 66,328,932 (GRCm39)	Q36L	probably benign	Het
Bbof1	G	A	12: 84,457,991 (GRCm39)	M85I	probably benign	Het
Bin1	T	G	18: 32,539,198 (GRCm39)	F44V	probably damaging	Het
Bnc2	C	A	4: 84,210,573 (GRCm39)	V599L	probably benign	Het
Bnip3l	A	G	14: 67,226,651 (GRCm39)	S181P	probably damaging	Het
Btnl9	A	G	11: 49,066,442 (GRCm39)	L374P	probably benign	Het
Cd109	T	C	9: 78,571,633 (GRCm39)	I424T	probably benign	Het
Cdhr2	G	A	13: 54,882,035 (GRCm39)	V1162M	probably damaging	Het
Dgkb	G	A	12: 38,174,216 (GRCm39)	E181K	probably benign	Het
Dnase1	A	T	16: 3,855,861 (GRCm39)	D64V	probably damaging	Het
E130308A19Rik	T	C	4: 59,719,767 (GRCm39)	I433T	probably damaging	Het
Ecsit	C	T	9: 21,987,592 (GRCm39)	R149H	probably benign	Het
Eif1ad8	G	A	12: 87,563,911 (GRCm39)	R82Q	possibly damaging	Het
Enpep	A	T	3: 129,099,165 (GRCm39)	V437E	probably damaging	Het
Esrp1	A	T	4: 11,338,767 (GRCm39)	V679D	probably damaging	Het
Fa2h	T	A	8: 112,074,817 (GRCm39)		probably null	Het
Fabp1	G	A	6: 71,176,956 (GRCm39)	E16K	probably damaging	Het
Fstl5	T	A	3: 76,614,810 (GRCm39)	S624T	probably benign	Het
Gemin5	G	A	11: 58,019,686 (GRCm39)	R1128W	probably benign	Het
H2bc8	T	C	13: 23,755,841 (GRCm39)	S79P	probably damaging	Het
Hps3	T	C	3: 20,057,492 (GRCm39)	H896R	probably benign	Het
Hsf1	T	A	15: 76,382,481 (GRCm39)	I284K	probably benign	Het
Igkv3-2	T	A	6: 70,675,988 (GRCm39)	I99N	probably damaging	Het
Iqub	T	A	6: 24,503,784 (GRCm39)	I163F	possibly damaging	Het
Jak2	T	C	19: 29,275,732 (GRCm39)	I724T	probably damaging	Het
Kbtbd3	A	T	9: 4,330,408 (GRCm39)	T261S	probably benign	Het
Kctd20	G	T	17: 29,171,732 (GRCm39)		probably null	Het
Kif28	C	T	1: 179,537,014 (GRCm39)	V490M	probably benign	Het
Kif9	T	C	9: 110,348,208 (GRCm39)	L677P	probably damaging	Het
Klhl18	T	C	9: 110,257,829 (GRCm39)	Y537C	probably damaging	Het
Mmut	T	A	17: 41,254,784 (GRCm39)	I331K	probably benign	Het
Myo5a	T	A	9: 75,089,228 (GRCm39)	S1119R	probably damaging	Het
Napepld	C	A	5: 21,870,319 (GRCm39)	E366D	probably benign	Het
Nbea	A	G	3: 55,895,402 (GRCm39)	V1540A	probably damaging	Het
Neb	T	A	2: 52,111,738 (GRCm39)	I130L	probably benign	Het
Or2g7	T	C	17: 38,378,370 (GRCm39)	S103P	probably damaging	Het
Or2r11	A	T	6: 42,437,764 (GRCm39)	L63H	probably damaging	Het
Or7e178	C	T	9: 20,225,941 (GRCm39)	D92N	probably damaging	Het
Pappa2	A	C	1: 158,675,970 (GRCm39)	C925W	probably damaging	Het
Parp12	T	A	6: 39,066,038 (GRCm39)	N562Y	probably damaging	Het
Patj	C	A	4: 98,427,201 (GRCm39)	H1198Q	probably benign	Het
Pcyox1	T	A	6: 86,366,128 (GRCm39)	K362M	possibly damaging	Het
Pcyt2	T	C	11: 120,501,765 (GRCm39)	Y350C	probably benign	Het
Pkd1	A	T	17: 24,784,617 (GRCm39)	T388S	probably benign	Het
Prl3d1	T	A	13: 27,284,011 (GRCm39)	Y193*	probably null	Het
Psme1	A	T	14: 55,817,056 (GRCm39)	D15V	possibly damaging	Het
Qrsl1	G	A	10: 43,750,631 (GRCm39)	R476C	probably damaging	Het
Ranbp2	A	G	10: 58,315,441 (GRCm39)	N2054D	probably damaging	Het
Serpinb1c	T	A	13: 33,066,052 (GRCm39)	K298*	probably null	Het
Slc22a27	A	T	19: 7,857,532 (GRCm39)	M355K	probably benign	Het
Spp1	T	A	5: 104,588,280 (GRCm39)	H227Q	probably benign	Het
Stam2	T	A	2: 52,609,785 (GRCm39)	N75I	probably damaging	Het
Tacc1	T	C	8: 25,659,230 (GRCm39)	T579A	probably benign	Het
Tbx3	A	G	5: 119,821,132 (GRCm39)	D734G	probably benign	Het
Tmem233	G	T	5: 116,221,141 (GRCm39)	S35*	probably null	Het
Trim43c	A	T	9: 88,722,390 (GRCm39)	E12V	probably damaging	Het
Trio	A	G	15: 27,891,540 (GRCm39)	S463P	unknown	Het
Uggt2	A	T	14: 119,263,834 (GRCm39)	D1065E	probably damaging	Het
Usp1	A	G	4: 98,817,150 (GRCm39)	N114S	probably benign	Het
Usp34	A	G	11: 23,396,787 (GRCm39)	E2377G		Het
Virma	T	A	4: 11,528,643 (GRCm39)	H1243Q	probably benign	Het
Vmn2r3	A	T	3: 64,178,714 (GRCm39)	V517D	probably damaging	Het
Zfp931	T	C	2: 177,709,889 (GRCm39)	K166E	probably damaging	Het
Zp3	T	A	5: 136,011,604 (GRCm39)	Y141N	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
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'- CTTTGCCAAGACAAACAAAGTGG -3'
(R):5'- AGATTGGTCCTGAGATGGCG -3'

Sequencing Primer
(F):5'- AGTGGGATTAAAATGATGTTCATCC -3'
(R):5'- AGATGGCGTATTGATGCATTCAC -3'

Posted On

2020-01-23