Incidental Mutation 'IGL03164:Oprk1'
ID411535
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oprk1
Ensembl Gene ENSMUSG00000025905
Gene Nameopioid receptor, kappa 1
SynonymsR21, KOR-1, Oprk2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.161) question?
Stock #IGL03164
Quality Score
Status
Chromosome1
Chromosomal Location5588466-5606131 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 5598864 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 178 (I178F)
Ref Sequence ENSEMBL: ENSMUSP00000125105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027038] [ENSMUST00000160339] [ENSMUST00000160777]
Predicted Effect probably damaging
Transcript: ENSMUST00000027038
AA Change: I178F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027038
Gene: ENSMUSG00000025905
AA Change: I178F

DomainStartEndE-ValueType
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: I178F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124030
Gene: ENSMUSG00000025905
AA Change: I178F

DomainStartEndE-ValueType
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: I178F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125105
Gene: ENSMUSG00000025905
AA Change: I178F

DomainStartEndE-ValueType
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
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 60,039,649 D256G probably damaging Het
Abcb11 A T 2: 69,291,999 L380* probably null Het
Aco1 A T 4: 40,167,116 N110I probably benign Het
Adamts9 T C 6: 92,889,937 D126G probably damaging Het
Anks1b T G 10: 90,042,692 V121G probably damaging Het
Ap1s3 A G 1: 79,625,170 L40P probably damaging Het
Cd19 C A 7: 126,413,509 M237I possibly damaging Het
Chil6 T C 3: 106,394,398 T129A probably benign Het
Chtf18 A G 17: 25,726,842 M94T probably benign Het
Clstn2 G T 9: 97,799,409 D59E possibly damaging Het
Ctnnbl1 A C 2: 157,817,761 M253L probably benign Het
Erg T C 16: 95,409,871 T41A possibly damaging Het
Gjc1 T A 11: 102,800,721 N152I possibly damaging Het
Ints1 A G 5: 139,752,735 L2084P probably damaging Het
Isoc1 C T 18: 58,673,332 S238L probably damaging Het
Kdm5a T A 6: 120,439,019 D1633E probably damaging Het
Krt76 T C 15: 101,887,451 D428G possibly damaging Het
Lman1l T C 9: 57,609,995 T369A probably damaging Het
Lrp2 G T 2: 69,464,699 T3425K probably damaging Het
Lta4h T C 10: 93,470,797 probably benign Het
Nap1l4 C T 7: 143,538,216 probably null Het
Nlrp5 T A 7: 23,418,373 Y507* probably null Het
Nps T C 7: 135,272,310 S53P probably damaging Het
Olfr446 C T 6: 42,928,130 R300* probably null Het
Olfr491 T C 7: 108,317,694 S267P probably damaging Het
Osgin2 G T 4: 16,001,938 S204R probably benign Het
Otop1 G T 5: 38,287,962 G155* probably null Het
Peli3 A G 19: 4,936,116 probably null Het
Pex7 T A 10: 19,894,715 probably benign Het
Pfkm T C 15: 98,131,962 L749P probably damaging Het
Pwp1 T A 10: 85,878,503 F103Y probably benign Het
Rhod T C 19: 4,432,801 K63E possibly damaging Het
Rtl1 T C 12: 109,592,933 E824G probably damaging Het
Sema4d A G 13: 51,708,922 F467L possibly damaging Het
Sept10 T C 10: 59,181,099 E201G probably damaging Het
Slc37a3 G A 6: 39,345,303 T389I probably benign Het
Slco2b1 C T 7: 99,685,536 A243T probably damaging Het
Sorbs2 A G 8: 45,782,874 T187A probably benign Het
Supt20 T A 3: 54,713,188 D389E probably benign Het
Tchh A G 3: 93,445,392 D713G unknown Het
Trappc10 T C 10: 78,220,242 R209G probably damaging Het
Unc119 A G 11: 78,348,176 D176G probably damaging Het
Usb1 G A 8: 95,333,484 R21Q probably damaging Het
Other mutations in Oprk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Oprk1 APN 1 5598905 missense probably damaging 0.99
IGL02049:Oprk1 APN 1 5598844 missense probably damaging 1.00
IGL02076:Oprk1 APN 1 5602289 missense probably damaging 1.00
IGL02265:Oprk1 APN 1 5602648 missense probably damaging 1.00
IGL02294:Oprk1 APN 1 5602387 missense probably damaging 1.00
IGL02584:Oprk1 APN 1 5598604 missense probably damaging 1.00
R0295:Oprk1 UTSW 1 5598850 missense possibly damaging 0.78
R1209:Oprk1 UTSW 1 5602261 missense probably benign 0.00
R1420:Oprk1 UTSW 1 5602321 missense probably damaging 1.00
R2994:Oprk1 UTSW 1 5602732 missense probably benign 0.00
R3876:Oprk1 UTSW 1 5602661 nonsense probably null
R4026:Oprk1 UTSW 1 5598685 missense probably benign 0.04
R4096:Oprk1 UTSW 1 5602811 utr 3 prime probably benign
R4097:Oprk1 UTSW 1 5602811 utr 3 prime probably benign
R4475:Oprk1 UTSW 1 5602601 nonsense probably null
R5177:Oprk1 UTSW 1 5602674 missense probably damaging 1.00
R5223:Oprk1 UTSW 1 5589296 missense probably benign 0.30
R6397:Oprk1 UTSW 1 5598748 missense probably damaging 1.00
R6647:Oprk1 UTSW 1 5602284 missense probably damaging 1.00
R7169:Oprk1 UTSW 1 5589081 missense probably benign
R7170:Oprk1 UTSW 1 5602396 missense probably damaging 1.00
R8186:Oprk1 UTSW 1 5602317 missense probably benign 0.16
Z1176:Oprk1 UTSW 1 5602702 missense probably benign 0.00
Posted On2016-08-02