Incidental Mutation 'R6843:Oprl1'
| ID |
534608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oprl1
|
| Ensembl Gene |
ENSMUSG00000027584 |
| Gene Name |
opioid receptor-like 1 |
| Synonyms |
MOR-C, morc, nociceptin/ orphaninFQ receptor, NOP, LC132, N/OFQ receptor, ORL1, XOR1 |
| MMRRC Submission |
044949-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.331)
|
| Stock # |
R6843 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181356809-181362778 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 181357547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 11
(E11G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071585]
[ENSMUST00000108763]
[ENSMUST00000108766]
[ENSMUST00000108767]
[ENSMUST00000108768]
[ENSMUST00000148334]
[ENSMUST00000183693]
[ENSMUST00000184127]
[ENSMUST00000184795]
|
| AlphaFold |
P35377 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071585
AA Change: E11G
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000071513
Gene: ENSMUSG00000027584
AA Change: E11G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
54 |
334 |
5.8e-9 |
PFAM |
|
Pfam:7TM_GPCR_Srx
|
56 |
264 |
1.4e-6 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
59 |
331 |
1.2e-14 |
PFAM |
|
Pfam:7tm_1
|
65 |
316 |
1.4e-62 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
112 |
332 |
7.8e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108763
|
| SMART Domains |
Protein: ENSMUSP00000104394
Gene: ENSMUSG00000027584
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
59 |
317 |
6.9e-11 |
PFAM |
|
Pfam:7tm_1
|
60 |
302 |
1.6e-62 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
91 |
318 |
4.3e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108766
AA Change: E11G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104397
Gene: ENSMUSG00000027584
AA Change: E11G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
56 |
189 |
3.6e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
59 |
201 |
1.8e-9 |
PFAM |
|
Pfam:7tm_1
|
65 |
210 |
1.6e-41 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108767
AA Change: E11G
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104398
Gene: ENSMUSG00000027584
AA Change: E11G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
59 |
331 |
1.2e-14 |
PFAM |
|
Pfam:7tm_1
|
65 |
316 |
2.1e-66 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
105 |
332 |
7.6e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108768
AA Change: E11G
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104399
Gene: ENSMUSG00000027584
AA Change: E11G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
59 |
331 |
1.2e-14 |
PFAM |
|
Pfam:7tm_1
|
65 |
316 |
2.1e-66 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
105 |
332 |
7.6e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148334
AA Change: E11G
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118664
Gene: ENSMUSG00000027584
AA Change: E11G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
65 |
140 |
5.9e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183693
AA Change: E11G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138810
Gene: ENSMUSG00000027584
AA Change: E11G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
21 |
77 |
1e-3 |
SMART |
|
PDB:4EA3|B
|
41 |
76 |
9e-17 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184127
AA Change: E11G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139119
Gene: ENSMUSG00000027584
AA Change: E11G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
21 |
76 |
3e-4 |
SMART |
|
PDB:4EA3|B
|
41 |
76 |
1e-16 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184795
AA Change: E11G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138979
Gene: ENSMUSG00000027584
AA Change: E11G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
21 |
71 |
2e-3 |
SMART |
|
PDB:4EA3|B
|
41 |
71 |
5e-13 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the 7 transmembrane-spanning G protein-coupled receptor family, and functions as a receptor for the endogenous, opioid-related neuropeptide, nociceptin/orphanin FQ. This receptor-ligand system modulates a variety of biological functions and neurobehavior, including stress responses and anxiety behavior, learning and memory, locomotor activity, and inflammatory and immune responses. Alternatively spliced transcript variants have been described 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 null allele exhibit altered touch/nociception, facilitation of long-term potentiation and memory, increased dopamine release upon administration of opioid peptide agonist, impaired behavioral response to morphine, and increased susceptibility to noise-induced hearing loss. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,615,360 (GRCm39) |
Q78L |
probably benign |
Het |
| Akr1c21 |
A |
G |
13: 4,625,213 (GRCm39) |
H48R |
probably damaging |
Het |
| Anks1b |
T |
A |
10: 90,784,460 (GRCm39) |
S1143T |
probably damaging |
Het |
| Apip |
T |
G |
2: 102,922,834 (GRCm39) |
F217L |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,892,695 (GRCm39) |
Y1525N |
probably damaging |
Het |
| Bcl2l13 |
G |
A |
6: 120,825,578 (GRCm39) |
|
probably null |
Het |
| Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
| Clk4 |
T |
G |
11: 51,167,076 (GRCm39) |
|
probably null |
Het |
| Cnr2 |
C |
T |
4: 135,644,900 (GRCm39) |
P326L |
probably benign |
Het |
| Cryaa |
A |
G |
17: 31,897,147 (GRCm39) |
D58G |
possibly damaging |
Het |
| Crybg3 |
G |
A |
16: 59,380,159 (GRCm39) |
T365M |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,357,587 (GRCm39) |
N1683D |
probably benign |
Het |
| Dbx2 |
T |
G |
15: 95,552,340 (GRCm39) |
I102L |
possibly damaging |
Het |
| Dll4 |
A |
T |
2: 119,156,475 (GRCm39) |
|
probably benign |
Het |
| Epb42 |
T |
A |
2: 120,858,166 (GRCm39) |
Y264F |
possibly damaging |
Het |
| Exoc3l |
T |
A |
8: 106,016,729 (GRCm39) |
H695L |
probably benign |
Het |
| Fhip1a |
G |
A |
3: 85,580,352 (GRCm39) |
P618S |
probably damaging |
Het |
| Ghsr |
A |
C |
3: 27,426,676 (GRCm39) |
D244A |
probably benign |
Het |
| Gm9195 |
A |
G |
14: 72,678,651 (GRCm39) |
Y2268H |
possibly damaging |
Het |
| Hdac1 |
A |
G |
4: 129,436,383 (GRCm39) |
Y14H |
probably damaging |
Het |
| Hdac3 |
A |
T |
18: 38,075,007 (GRCm39) |
Y282N |
probably benign |
Het |
| Heg1 |
T |
A |
16: 33,539,896 (GRCm39) |
N285K |
probably benign |
Het |
| Igkv4-90 |
A |
G |
6: 68,784,670 (GRCm39) |
F8S |
possibly damaging |
Het |
| Map2k1 |
A |
T |
9: 64,094,973 (GRCm39) |
D336E |
probably damaging |
Het |
| Map4k2 |
A |
T |
19: 6,403,477 (GRCm39) |
I796F |
probably damaging |
Het |
| Mapk13 |
T |
A |
17: 28,994,427 (GRCm39) |
|
probably null |
Het |
| Mprip |
A |
G |
11: 59,650,554 (GRCm39) |
I1419M |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,368,651 (GRCm39) |
E255G |
probably damaging |
Het |
| Or1i2 |
T |
C |
10: 78,447,891 (GRCm39) |
N195D |
probably damaging |
Het |
| Or4f14 |
T |
C |
2: 111,743,260 (GRCm39) |
N5S |
probably damaging |
Het |
| Or52b3 |
A |
G |
7: 102,203,928 (GRCm39) |
I146V |
probably benign |
Het |
| Or5b99 |
G |
T |
19: 12,976,362 (GRCm39) |
C4F |
probably benign |
Het |
| Or6c209 |
A |
G |
10: 129,483,048 (GRCm39) |
D17G |
possibly damaging |
Het |
| Palmd |
T |
A |
3: 116,717,864 (GRCm39) |
D211V |
probably damaging |
Het |
| Pcdhga11 |
A |
G |
18: 37,889,378 (GRCm39) |
N129D |
probably damaging |
Het |
| Plekha6 |
T |
A |
1: 133,202,616 (GRCm39) |
M359K |
probably damaging |
Het |
| Plekha7 |
G |
T |
7: 115,742,555 (GRCm39) |
H756Q |
probably benign |
Het |
| Ppfibp2 |
C |
T |
7: 107,326,938 (GRCm39) |
P441S |
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,467,978 (GRCm39) |
I1373T |
possibly damaging |
Het |
| Serpinb9g |
G |
T |
13: 33,676,900 (GRCm39) |
L227F |
probably damaging |
Het |
| Snapc4 |
C |
A |
2: 26,263,611 (GRCm39) |
A11S |
probably benign |
Het |
| Sqor |
T |
C |
2: 122,626,900 (GRCm39) |
V7A |
probably benign |
Het |
| Sqor |
G |
T |
2: 122,651,215 (GRCm39) |
G437V |
probably damaging |
Het |
| Srrm3 |
T |
C |
5: 135,881,135 (GRCm39) |
V145A |
probably benign |
Het |
| Stx1b |
G |
A |
7: 127,414,151 (GRCm39) |
Q72* |
probably null |
Het |
| Syt7 |
A |
G |
19: 10,399,135 (GRCm39) |
D77G |
probably damaging |
Het |
| Tvp23a |
G |
A |
16: 10,264,884 (GRCm39) |
A9V |
probably benign |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,692 (GRCm39) |
I114F |
probably damaging |
Het |
| Vmn2r80 |
C |
A |
10: 79,005,502 (GRCm39) |
Q380K |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,230,125 (GRCm39) |
E269K |
probably damaging |
Het |
| Zfp932 |
T |
C |
5: 110,156,581 (GRCm39) |
M92T |
probably benign |
Het |
|
| Other mutations in Oprl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02977:Oprl1
|
APN |
2 |
181,360,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0302:Oprl1
|
UTSW |
2 |
181,361,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0453:Oprl1
|
UTSW |
2 |
181,360,527 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1564:Oprl1
|
UTSW |
2 |
181,360,733 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1618:Oprl1
|
UTSW |
2 |
181,360,646 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4801:Oprl1
|
UTSW |
2 |
181,361,046 (GRCm39) |
missense |
probably benign |
|
|
R4802:Oprl1
|
UTSW |
2 |
181,361,046 (GRCm39) |
missense |
probably benign |
|
|
R5032:Oprl1
|
UTSW |
2 |
181,360,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Oprl1
|
UTSW |
2 |
181,360,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5134:Oprl1
|
UTSW |
2 |
181,360,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6284:Oprl1
|
UTSW |
2 |
181,359,784 (GRCm39) |
intron |
probably benign |
|
|
R6374:Oprl1
|
UTSW |
2 |
181,357,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Oprl1
|
UTSW |
2 |
181,360,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Oprl1
|
UTSW |
2 |
181,360,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8329:Oprl1
|
UTSW |
2 |
181,360,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9241:Oprl1
|
UTSW |
2 |
181,360,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Oprl1
|
UTSW |
2 |
181,360,454 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9712:Oprl1
|
UTSW |
2 |
181,360,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Oprl1
|
UTSW |
2 |
181,357,600 (GRCm39) |
missense |
probably benign |
0.28 |
|
X0024:Oprl1
|
UTSW |
2 |
181,360,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTGCCCATGTGTATGCC -3'
(R):5'- TACATGACGAGGCAGTTCCC -3'
Sequencing Primer
(F):5'- TCTGTGTGTGGATGCCCATC -3'
(R):5'- AGGCAGTTCCCCAGGAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation