Incidental Mutation 'IGL02294:Oprk1'
ID 290138
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oprk1
Ensembl Gene ENSMUSG00000025905
Gene Name opioid receptor, kappa 1
Synonyms Oprk2, R21, KOR-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # IGL02294
Quality Score
Status
Chromosome 1
Chromosomal Location 5658689-5676354 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 5672610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 249 (M249R)
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: M249R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027038
Gene: ENSMUSG00000025905
AA Change: M249R

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: M249R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124030
Gene: ENSMUSG00000025905
AA Change: M249R

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: M249R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125105
Gene: ENSMUSG00000025905
AA Change: M249R

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A G 18: 65,439,146 (GRCm39) V749A possibly damaging Het
Col6a4 T C 9: 105,943,931 (GRCm39) D1181G probably benign Het
Crb1 A G 1: 139,162,520 (GRCm39) S1213P possibly damaging Het
D430041D05Rik A T 2: 104,085,351 (GRCm39) M1066K probably benign Het
Fasn G T 11: 120,701,102 (GRCm39) T1999N probably damaging Het
Flg2 C T 3: 93,111,053 (GRCm39) A1027V unknown Het
Gbp5 T A 3: 142,209,588 (GRCm39) V178E probably damaging Het
Hdac4 T C 1: 91,909,929 (GRCm39) D445G probably benign Het
Hps3 T C 3: 20,068,212 (GRCm39) E482G probably damaging Het
Impdh1 G A 6: 29,205,201 (GRCm39) A200V probably benign Het
Kdm2b T C 5: 123,099,537 (GRCm39) Y134C probably damaging Het
Ly6g T A 15: 75,030,413 (GRCm39) I77N possibly damaging Het
Or5ac21 T C 16: 59,123,975 (GRCm39) L153P probably damaging Het
Or5h17 T C 16: 58,820,428 (GRCm39) C127R probably damaging Het
Otud4 A G 8: 80,391,606 (GRCm39) probably benign Het
Slc16a4 T C 3: 107,208,384 (GRCm39) I298T probably benign Het
Sox21 A G 14: 118,472,950 (GRCm39) M33T probably benign Het
Speer4a1 T A 5: 26,243,240 (GRCm39) T82S probably benign Het
Stard13 T C 5: 150,986,580 (GRCm39) D310G probably benign Het
Trpm6 C A 19: 18,831,427 (GRCm39) Q1431K probably benign Het
Ufl1 T A 4: 25,259,281 (GRCm39) K446* probably null Het
Vmn2r19 A G 6: 123,306,937 (GRCm39) T482A probably benign Het
Other mutations in Oprk1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16