Incidental Mutation 'IGL00926:Oprk1'
ID26643
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 #IGL00926
Quality Score
Status
Chromosome1
Chromosomal Location5588466-5606131 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 5598905 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 191 (I191M)
Ref Sequence ENSEMBL: ENSMUSP00000125105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027038] [ENSMUST00000160339] [ENSMUST00000160777]
Predicted Effect probably damaging
Transcript: ENSMUST00000027038
AA Change: I191M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027038
Gene: ENSMUSG00000025905
AA Change: I191M

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: I191M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124030
Gene: ENSMUSG00000025905
AA Change: I191M

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: I191M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125105
Gene: ENSMUSG00000025905
AA Change: I191M

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr2 A T X: 21,486,285 M53L probably benign Het
Apob T C 12: 8,015,421 V4097A probably benign Het
Brip1 T C 11: 86,148,401 K436E possibly damaging Het
Cadps C A 14: 12,491,795 R785L probably damaging Het
Cavin2 A G 1: 51,300,877 K238E probably damaging Het
Ccdc158 G A 5: 92,650,767 T358I probably damaging Het
Cds1 A G 5: 101,809,901 I246M probably damaging Het
Cep19 A G 16: 32,107,080 E102G probably damaging Het
Clec4a1 T A 6: 122,922,055 C28S possibly damaging Het
Csmd3 T A 15: 47,710,964 Y2082F possibly damaging Het
Fbn1 T A 2: 125,319,042 T2193S possibly damaging Het
Gm24124 G T 19: 13,634,057 probably benign Het
Gpbp1l1 T A 4: 116,587,513 probably null Het
Helq T C 5: 100,765,082 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Itga3 G A 11: 95,065,886 H122Y probably damaging Het
Mettl18 T A 1: 163,996,226 S39T possibly damaging Het
Ndst4 A T 3: 125,561,453 T337S probably benign Het
Neb A G 2: 52,270,317 probably benign Het
Nrbp1 T C 5: 31,243,797 S6P probably benign Het
Olfr444 A T 6: 42,956,436 probably benign Het
Olfr618 A G 7: 103,598,162 N282S possibly damaging Het
Olfr633 A G 7: 103,946,997 T144A probably benign Het
Psap T C 10: 60,292,536 V69A probably damaging Het
Scn7a C T 2: 66,684,131 E1100K probably benign Het
Tmem145 A G 7: 25,314,730 N423S possibly damaging Het
Tpd52 A T 3: 8,947,632 probably null Het
Trmt13 G A 3: 116,590,235 Q58* probably null Het
Ttn T C 2: 76,758,781 E21346G probably damaging Het
Other mutations in Oprk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03164:Oprk1 APN 1 5598864 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 On2013-04-17