Mutagenetix > Incidental Mutation

Incidental Mutation 'R5177:Oprk1'

399529

Institutional Source

Beutler Lab

Gene Symbol

Oprk1

Ensembl Gene

ENSMUSG00000025905

Gene Name

opioid receptor, kappa 1

Synonyms

Oprk2, R21, KOR-1

MMRRC Submission

042757-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

R5177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5658689-5676354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 5672897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 345 (C345G)

Ref Sequence

ENSEMBL: ENSMUSP00000125105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027038] [ENSMUST00000160339] [ENSMUST00000160777]

AlphaFold

P33534

Predicted Effect

probably damaging
Transcript: ENSMUST00000027038
AA Change: C345G

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

SMART Domains

Protein: ENSMUSP00000027038
Gene: ENSMUSG00000025905
AA Change: C345G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	67	280	4.8e-8	PFAM
Pfam:7TM_GPCR_Srsx	70	345	5.4e-14	PFAM
Pfam:7tm_1	76	330	2.6e-67	PFAM
Pfam:7TM_GPCR_Srv	79	345	6.8e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159083

Predicted Effect

probably damaging
Transcript: ENSMUST00000160339
AA Change: C345G

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

SMART Domains

Protein: ENSMUSP00000124030
Gene: ENSMUSG00000025905
AA Change: C345G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	67	284	1.1e-7	PFAM
Pfam:7TM_GPCR_Srsx	70	345	5.4e-14	PFAM
Pfam:7tm_1	76	330	2.6e-60	PFAM
Pfam:7TM_GPCR_Srv	78	345	5.2e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160777
AA Change: C345G

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

SMART Domains

Protein: ENSMUSP00000125105
Gene: ENSMUSG00000025905
AA Change: C345G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	67	280	4.8e-8	PFAM
Pfam:7TM_GPCR_Srsx	70	345	5.4e-14	PFAM
Pfam:7tm_1	76	330	2.6e-67	PFAM
Pfam:7TM_GPCR_Srv	79	345	6.8e-9	PFAM

Meta Mutation Damage Score

0.8634

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (71/73)

MGI Phenotype

FUNCTION: This gene encodes an opioid receptor, which is a member of the 7 transmembrane-spanning G protein-coupled receptor family. It functions as a receptor for endogenous ligands, as well as a receptor for various synthetic opioids. Ligand binding results in inhibition of adenylate cyclase activity and neurotransmitter release. This opioid receptor plays a role in the perception of pain and mediating the hypolocomotor, analgesic and aversive actions of synthetic opioids. Variations in this gene have also been associated with alcohol dependence and opiate addiction. Alternatively spliced transcript variants have been found for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired response to morphine and an opioid agonist, abnormal pain threshold, and increased litter size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,115,639 (GRCm39)	R575Q	probably damaging	Het
Arhgap22	T	G	14: 33,088,650 (GRCm39)	V377G	probably benign	Het
Asic4	T	C	1: 75,427,483 (GRCm39)	I3T	probably damaging	Het
Atp2b4	T	C	1: 133,656,506 (GRCm39)	T715A	probably benign	Het
Bltp3a	T	C	17: 28,103,992 (GRCm39)	L464P	possibly damaging	Het
Ccdc180	A	T	4: 45,917,508 (GRCm39)	H283L	probably damaging	Het
Cfap91	A	G	16: 38,152,683 (GRCm39)	S176P	probably benign	Het
Cfb	A	G	17: 35,078,002 (GRCm39)	V976A	probably damaging	Het
Cltc	T	C	11: 86,595,989 (GRCm39)	T1250A	probably damaging	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dcbld1	T	A	10: 52,180,730 (GRCm39)	D131E	probably damaging	Het
Dmxl1	T	C	18: 50,026,651 (GRCm39)	S1920P	probably damaging	Het
Dnajc13	G	A	9: 104,108,185 (GRCm39)	H197Y	probably benign	Het
Dpy19l1	C	T	9: 24,349,924 (GRCm39)		probably null	Het
Ears2	A	G	7: 121,643,683 (GRCm39)		probably benign	Het
Epgn	A	C	5: 91,176,136 (GRCm39)		probably benign	Het
Ern1	T	C	11: 106,302,601 (GRCm39)	T418A	probably benign	Het
F12	G	A	13: 55,567,981 (GRCm39)	P476S	probably benign	Het
Gal3st2c	C	T	1: 93,936,930 (GRCm39)	Q292*	probably null	Het
Galnt7	C	A	8: 58,037,061 (GRCm39)	Q109H	possibly damaging	Het
Gimap1	G	T	6: 48,720,032 (GRCm39)	G215W	probably damaging	Het
Gm28042	T	A	2: 119,872,082 (GRCm39)		probably null	Het
Gm5414	A	G	15: 101,534,252 (GRCm39)	I284T	possibly damaging	Het
Hddc3	A	G	7: 79,992,914 (GRCm39)	E10G	probably damaging	Het
Hmgxb3	T	C	18: 61,305,266 (GRCm39)	K31E	probably damaging	Het
Hspg2	A	C	4: 137,246,083 (GRCm39)	Y989S	probably damaging	Het
Kif12	G	A	4: 63,086,141 (GRCm39)	T402M	probably benign	Het
Klhdc4	A	T	8: 122,540,529 (GRCm39)	L115*	probably null	Het
Lama2	C	T	10: 27,066,699 (GRCm39)	V1061M	possibly damaging	Het
Llgl1	C	T	11: 60,602,833 (GRCm39)	T836I	possibly damaging	Het
Map4k4	A	G	1: 40,025,922 (GRCm39)	D304G	probably damaging	Het
Matn2	A	G	15: 34,433,660 (GRCm39)	Q915R	possibly damaging	Het
Myo18a	A	G	11: 77,755,668 (GRCm39)		probably benign	Het
Myorg	C	A	4: 41,498,407 (GRCm39)	E408*	probably null	Het
Nbn	A	T	4: 15,965,132 (GRCm39)		probably null	Het
Nek8	G	A	11: 78,061,297 (GRCm39)	Q383*	probably null	Het
Nme7	T	G	1: 164,208,245 (GRCm39)	Y304*	probably null	Het
Nol8	A	T	13: 49,814,588 (GRCm39)	H214L	probably benign	Het
Nostrin	A	T	2: 69,006,098 (GRCm39)	I261F	possibly damaging	Het
Or13a18	A	G	7: 140,190,102 (GRCm39)	T8A	probably benign	Het
Or52j3	A	T	7: 102,836,710 (GRCm39)	I301L	probably benign	Het
Polrmt	T	C	10: 79,573,310 (GRCm39)	S998G	probably benign	Het
Ppp1r12c	T	A	7: 4,487,495 (GRCm39)	R393*	probably null	Het
Prpf3	T	A	3: 95,757,036 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,475,385 (GRCm39)	M563V	probably benign	Het
Rasa2	C	A	9: 96,426,844 (GRCm39)	E775*	probably null	Het
Rc3h1	G	T	1: 160,779,222 (GRCm39)	V552L	probably damaging	Het
Rhot1	A	T	11: 80,137,592 (GRCm39)	N365Y	possibly damaging	Het
Rimbp3	G	A	16: 17,027,781 (GRCm39)	V402M	possibly damaging	Het
Rusc2	A	T	4: 43,421,805 (GRCm39)		probably null	Het
Slc25a11	T	C	11: 70,536,643 (GRCm39)	E141G	probably damaging	Het
Slc34a1	A	T	13: 55,548,975 (GRCm39)	I142F	probably damaging	Het
Socs6	A	C	18: 88,887,504 (GRCm39)	Y470*	probably null	Het
Sox12	A	T	2: 152,239,098 (GRCm39)	L174Q	unknown	Het
Srl	A	G	16: 4,314,267 (GRCm39)		probably null	Het
Tacc1	A	T	8: 25,691,237 (GRCm39)	V22E	probably damaging	Het
Thsd7a	A	T	6: 12,379,582 (GRCm39)	C947*	probably null	Het
Tlr12	A	C	4: 128,512,169 (GRCm39)	V27G	probably damaging	Het
Tmprss4	C	A	9: 45,085,260 (GRCm39)	V398L	probably benign	Het
Trip6	T	C	5: 137,310,434 (GRCm39)	D270G	probably damaging	Het
Uba5	T	G	9: 103,926,497 (GRCm39)	N355T	probably benign	Het
Ubr5	A	G	15: 38,006,761 (GRCm39)	Y1171H	probably benign	Het
Vmn2r57	A	G	7: 41,049,664 (GRCm39)	I695T	probably benign	Het
Vmn2r68	T	A	7: 84,871,199 (GRCm39)	I695L	probably damaging	Het
Vmn2r79	T	A	7: 86,651,177 (GRCm39)	M192K	probably damaging	Het
Vps16	G	T	2: 130,285,288 (GRCm39)	E782*	probably null	Het
Zfp783	A	G	6: 47,923,737 (GRCm39)		noncoding transcript	Het

Other mutations in Oprk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Oprk1	APN	1	5,669,128 (GRCm39)	missense	probably damaging	0.99
IGL02049:Oprk1	APN	1	5,669,067 (GRCm39)	missense	probably damaging	1.00
IGL02076:Oprk1	APN	1	5,672,512 (GRCm39)	missense	probably damaging	1.00
IGL02265:Oprk1	APN	1	5,672,871 (GRCm39)	missense	probably damaging	1.00
IGL02294:Oprk1	APN	1	5,672,610 (GRCm39)	missense	probably damaging	1.00
IGL02584:Oprk1	APN	1	5,668,827 (GRCm39)	missense	probably damaging	1.00
IGL03164:Oprk1	APN	1	5,669,087 (GRCm39)	missense	probably damaging	1.00
R0295:Oprk1	UTSW	1	5,669,073 (GRCm39)	missense	possibly damaging	0.78
R1209:Oprk1	UTSW	1	5,672,484 (GRCm39)	missense	probably benign	0.00
R1420:Oprk1	UTSW	1	5,672,544 (GRCm39)	missense	probably damaging	1.00
R2994:Oprk1	UTSW	1	5,672,955 (GRCm39)	missense	probably benign	0.00
R3876:Oprk1	UTSW	1	5,672,884 (GRCm39)	nonsense	probably null
R4026:Oprk1	UTSW	1	5,668,908 (GRCm39)	missense	probably benign	0.04
R4096:Oprk1	UTSW	1	5,673,034 (GRCm39)	utr 3 prime	probably benign
R4097:Oprk1	UTSW	1	5,673,034 (GRCm39)	utr 3 prime	probably benign
R4475:Oprk1	UTSW	1	5,672,824 (GRCm39)	nonsense	probably null
R5223:Oprk1	UTSW	1	5,659,519 (GRCm39)	missense	probably benign	0.30
R6397:Oprk1	UTSW	1	5,668,971 (GRCm39)	missense	probably damaging	1.00
R6647:Oprk1	UTSW	1	5,672,507 (GRCm39)	missense	probably damaging	1.00
R7169:Oprk1	UTSW	1	5,659,304 (GRCm39)	missense	probably benign
R7170:Oprk1	UTSW	1	5,672,619 (GRCm39)	missense	probably damaging	1.00
R8186:Oprk1	UTSW	1	5,672,540 (GRCm39)	missense	probably benign	0.16
R9712:Oprk1	UTSW	1	5,669,096 (GRCm39)	missense	probably damaging	0.98
Z1176:Oprk1	UTSW	1	5,672,925 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTTGCAGTCTTCATCATCTGTTG -3'
(R):5'- TCCACTTCAGACTGCAGTTG -3'

Sequencing Primer
(F):5'- GTTGGACCCCCATTCACATC -3'
(R):5'- CACTTCAGACTGCAGTTGTAATCTGG -3'

Posted On

2016-07-06