Mutagenetix > Incidental Mutation

Incidental Mutation 'R6647:Oprk1'

526100

Institutional Source

Beutler Lab

Gene Symbol

Oprk1

Ensembl Gene

ENSMUSG00000025905

Gene Name

opioid receptor, kappa 1

Synonyms

Oprk2, R21, KOR-1

MMRRC Submission

044768-MU

Accession Numbers

Essential gene?

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

Stock #

R6647 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5658689-5676354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5672507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 215 (P215S)

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: P215S

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

SMART Domains

Protein: ENSMUSP00000027038
Gene: ENSMUSG00000025905
AA Change: P215S

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: P215S

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

SMART Domains

Protein: ENSMUSP00000124030
Gene: ENSMUSG00000025905
AA Change: P215S

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: P215S

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

SMART Domains

Protein: ENSMUSP00000125105
Gene: ENSMUSG00000025905
AA Change: P215S

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (53/54)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,544,060 (GRCm39)	T1416A	probably damaging	Het
Atp7b	A	G	8: 22,518,494 (GRCm39)	S103P	probably damaging	Het
Ces1h	A	C	8: 94,078,654 (GRCm39)	*563G	probably null	Het
Cfap157	G	T	2: 32,669,086 (GRCm39)	A339E	probably benign	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Cyp2b13	A	G	7: 25,785,324 (GRCm39)	H231R	possibly damaging	Het
Ddx31	A	T	2: 28,765,750 (GRCm39)	T483S	probably damaging	Het
Defa25	A	T	8: 21,575,201 (GRCm39)	D60V	possibly damaging	Het
Dnah5	G	A	15: 28,403,633 (GRCm39)	A3453T	probably benign	Het
Dnah6	A	T	6: 73,115,743 (GRCm39)	F1500I	probably damaging	Het
Eprs1	C	T	1: 185,146,621 (GRCm39)	A1217V	probably damaging	Het
Ermp1	T	C	19: 29,604,335 (GRCm39)	Y481C	probably benign	Het
Fmn2	T	A	1: 174,420,670 (GRCm39)	N635K	unknown	Het
Fras1	A	G	5: 96,883,061 (GRCm39)	D2531G	probably damaging	Het
Frat1	C	T	19: 41,819,264 (GRCm39)	Q220*	probably null	Het
Gcc2	T	A	10: 58,123,103 (GRCm39)		probably null	Het
Gm3285	T	C	10: 77,698,447 (GRCm39)		probably benign	Het
Gm9857	T	C	3: 108,847,379 (GRCm39)		probably benign	Het
Grin2b	C	A	6: 135,710,108 (GRCm39)	W1146L	probably damaging	Het
Hells	T	A	19: 38,919,948 (GRCm39)	L33I	probably benign	Het
Ift81	T	A	5: 122,748,229 (GRCm39)	R54*	probably null	Het
Ints12	G	A	3: 132,802,639 (GRCm39)	R41Q	possibly damaging	Het
Katnal2	C	T	18: 77,067,733 (GRCm39)	E403K	probably benign	Het
Kcnk1	A	G	8: 126,722,199 (GRCm39)	M1V	probably null	Het
Kdm5a	A	G	6: 120,389,422 (GRCm39)	T950A	probably benign	Het
Kdr	G	A	5: 76,113,549 (GRCm39)	A773V	probably damaging	Het
Lats1	G	C	10: 7,573,271 (GRCm39)	M118I	possibly damaging	Het
Mug1	A	G	6: 121,817,200 (GRCm39)	I90V	probably benign	Het
Nid2	A	G	14: 19,852,484 (GRCm39)	D1064G	probably benign	Het
Nkx2-4	A	T	2: 146,926,187 (GRCm39)	I225N	possibly damaging	Het
Nlrp4e	A	G	7: 23,020,740 (GRCm39)	D409G	probably benign	Het
Ogfod2	G	C	5: 124,252,866 (GRCm39)	R292P	possibly damaging	Het
Or5d36	A	T	2: 87,901,053 (GRCm39)	F224L	probably benign	Het
Or6c35	T	A	10: 129,169,033 (GRCm39)	C94*	probably null	Het
Or7g27	T	A	9: 19,249,925 (GRCm39)	H56Q	possibly damaging	Het
Or8g21	T	C	9: 38,906,210 (GRCm39)	I174V	possibly damaging	Het
Pcdhb16	A	G	18: 37,612,225 (GRCm39)	K395R	possibly damaging	Het
Ptprg	C	A	14: 11,962,714 (GRCm38)	P171T	probably damaging	Het
Pycard	T	C	7: 127,592,741 (GRCm39)	T29A	probably benign	Het
Rap1gap2	G	A	11: 74,298,754 (GRCm39)	A452V	probably benign	Het
Rasgrf1	C	G	9: 89,892,516 (GRCm39)	T1072S	probably benign	Het
Rc3h2	G	A	2: 37,272,956 (GRCm39)	R707*	probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Senp7	T	C	16: 55,993,618 (GRCm39)	I767T	probably damaging	Het
Setd7	A	G	3: 51,450,183 (GRCm39)	V81A	probably benign	Het
Shisal2a	A	G	4: 108,225,224 (GRCm39)	S113P	probably benign	Het
Shkbp1	A	G	7: 27,041,800 (GRCm39)	S685P	probably benign	Het
Snrnp200	A	G	2: 127,068,372 (GRCm39)	E904G	probably damaging	Het
Spata22	T	A	11: 73,245,526 (GRCm39)		probably null	Het
Spata31e2	T	A	1: 26,721,659 (GRCm39)	N1174Y	probably damaging	Het
Tas2r138	G	T	6: 40,589,733 (GRCm39)	T171K	possibly damaging	Het
Tor1aip1	T	C	1: 155,893,999 (GRCm39)	D77G	possibly damaging	Het
Vav3	A	T	3: 109,434,732 (GRCm39)	H421L	probably benign	Het
Vmn1r43	A	G	6: 89,846,841 (GRCm39)	L215P	probably damaging	Het
Vmn2r100	T	A	17: 19,742,785 (GRCm39)	S386R	probably benign	Het
Xpa	T	A	4: 46,183,089 (GRCm39)	R233S	probably benign	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
R5177:Oprk1	UTSW	1	5,672,897 (GRCm39)	missense	probably damaging	1.00
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
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'- GCTAGCCAGATTTTGCTGTTC -3'
(R):5'- GTCCAACAGATGATGAAGACTGC -3'

Sequencing Primer
(F):5'- AGATTTTGCTGTTCTCCTTTCAATAC -3'
(R):5'- GATGATGAAGACTGCAACTACTAC -3'

Posted On

2018-06-22