Incidental Mutation 'R6397:Oprk1'
| ID |
516025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oprk1
|
| Ensembl Gene |
ENSMUSG00000025905 |
| Gene Name |
opioid receptor, kappa 1 |
| Synonyms |
Oprk2, R21, KOR-1 |
| MMRRC Submission |
044545-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.266)
|
| Stock # |
R6397 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
5658689-5676354 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5668971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 139
(Y139C)
|
| 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: Y139C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027038
Gene: ENSMUSG00000025905
AA Change: Y139C
| 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: Y139C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124030
Gene: ENSMUSG00000025905
AA Change: Y139C
| 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: Y139C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125105
Gene: ENSMUSG00000025905
AA Change: Y139C
| 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 |
|
| Meta Mutation Damage Score |
0.7632 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
94% (29/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
G |
T |
10: 18,483,413 (GRCm39) |
S1437* |
probably null |
Het |
| Cdh1 |
T |
C |
8: 107,330,922 (GRCm39) |
S18P |
possibly damaging |
Het |
| Dipk1a |
T |
A |
5: 108,059,504 (GRCm39) |
K105* |
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,705,308 (GRCm39) |
V1137A |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Gm3486 |
G |
A |
14: 41,208,343 (GRCm39) |
L123F |
probably benign |
Het |
| Ifi203 |
C |
A |
1: 173,754,770 (GRCm39) |
V654L |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,813,355 (GRCm39) |
L787P |
probably damaging |
Het |
| Kazald1 |
A |
G |
19: 45,065,317 (GRCm39) |
E66G |
probably benign |
Het |
| Map4 |
T |
A |
9: 109,856,784 (GRCm39) |
D151E |
possibly damaging |
Het |
| Msrb3 |
G |
A |
10: 120,627,356 (GRCm39) |
T42I |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,679,156 (GRCm39) |
C744Y |
probably damaging |
Het |
| Nlgn1 |
T |
A |
3: 25,487,827 (GRCm39) |
H836L |
possibly damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,582,152 (GRCm39) |
N653D |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,488,338 (GRCm39) |
T39A |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,558 (GRCm39) |
S313T |
probably benign |
Het |
| Pcdhb8 |
C |
T |
18: 37,488,516 (GRCm39) |
R65* |
probably null |
Het |
| Phf8-ps |
T |
C |
17: 33,285,219 (GRCm39) |
N528D |
probably benign |
Het |
| Pstpip2 |
T |
G |
18: 77,961,079 (GRCm39) |
C221G |
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,552,610 (GRCm39) |
H195L |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,640,272 (GRCm39) |
I79T |
probably benign |
Het |
| Sptbn2 |
A |
T |
19: 4,792,446 (GRCm39) |
E1367V |
possibly damaging |
Het |
| Stau1 |
A |
G |
2: 166,792,927 (GRCm39) |
V346A |
possibly damaging |
Het |
| Tchh |
A |
G |
3: 93,353,173 (GRCm39) |
E871G |
unknown |
Het |
| Tlr9 |
A |
G |
9: 106,102,305 (GRCm39) |
N532S |
probably damaging |
Het |
| Tuba1c |
G |
A |
15: 98,935,738 (GRCm39) |
A400T |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,131 (GRCm39) |
Y828* |
probably null |
Het |
| Vps45 |
A |
G |
3: 95,950,164 (GRCm39) |
I255T |
probably benign |
Het |
| Yap1 |
T |
C |
9: 8,001,467 (GRCm39) |
Y173C |
probably damaging |
Het |
| Zc3h7b |
A |
T |
15: 81,677,055 (GRCm39) |
I821F |
probably benign |
Het |
| Zftraf1 |
A |
T |
15: 76,532,391 (GRCm39) |
I239N |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACACTCTGGGTTTAAGTTGCAG -3'
(R):5'- TGGTGCCTCCAAGGACTATC -3'
Sequencing Primer
(F):5'- CACTCTGGGTTTAAGTTGCAGACATG -3'
(R):5'- TCGCTGATATACCAACAGATGATGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation