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)
|
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
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: M249R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124030 Gene: ENSMUSG00000025905 AA Change: M249R
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: M249R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125105 Gene: ENSMUSG00000025905 AA Change: M249R
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |