Incidental Mutation 'R0302:Oprl1'
| ID |
24838 |
| 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 |
038514-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.331)
|
| Stock # |
R0302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181356809-181362778 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 181361021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 318
(C318Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071585]
[ENSMUST00000108763]
[ENSMUST00000108766]
[ENSMUST00000108767]
[ENSMUST00000108768]
[ENSMUST00000184127]
[ENSMUST00000183693]
[ENSMUST00000184795]
[ENSMUST00000148334]
|
| AlphaFold |
P35377 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071585
AA Change: C332Y
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000071513
Gene: ENSMUSG00000027584
AA Change: C332Y
| 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
AA Change: C318Y
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000104394
Gene: ENSMUSG00000027584
AA Change: C318Y
| 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 |
probably benign
Transcript: ENSMUST00000108766
|
| SMART Domains |
Protein: ENSMUSP00000104397
Gene: ENSMUSG00000027584
| 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 |
probably benign
Transcript: ENSMUST00000108767
AA Change: C332Y
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000104398
Gene: ENSMUSG00000027584
AA Change: C332Y
| 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 benign
Transcript: ENSMUST00000108768
AA Change: C332Y
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000104399
Gene: ENSMUSG00000027584
AA Change: C332Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000120868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151241
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184127
|
| SMART Domains |
Protein: ENSMUSP00000139119
Gene: ENSMUSG00000027584
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
21 |
76 |
3e-4 |
SMART |
|
PDB:4EA3|B
|
41 |
76 |
1e-16 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183693
|
| SMART Domains |
Protein: ENSMUSP00000138810
Gene: ENSMUSG00000027584
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
21 |
77 |
1e-3 |
SMART |
|
PDB:4EA3|B
|
41 |
76 |
9e-17 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184795
|
| SMART Domains |
Protein: ENSMUSP00000138979
Gene: ENSMUSG00000027584
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
21 |
71 |
2e-3 |
SMART |
|
PDB:4EA3|B
|
41 |
71 |
5e-13 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148334
|
| SMART Domains |
Protein: ENSMUSP00000118664
Gene: ENSMUSG00000027584
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
65 |
140 |
5.9e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.1580 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.5%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprs |
T |
C |
4: 126,211,185 (GRCm39) |
E244G |
probably benign |
Het |
| Aldh1l2 |
G |
A |
10: 83,356,229 (GRCm39) |
P54S |
probably damaging |
Het |
| Ankdd1a |
G |
A |
9: 65,416,924 (GRCm39) |
|
probably benign |
Het |
| Ankra2 |
T |
A |
13: 98,408,200 (GRCm39) |
S216R |
probably damaging |
Het |
| Asah2 |
A |
T |
19: 32,030,356 (GRCm39) |
N105K |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,028,342 (GRCm39) |
Y893C |
probably benign |
Het |
| Capza2 |
G |
A |
6: 17,648,523 (GRCm39) |
R15H |
probably benign |
Het |
| Cbfa2t2 |
T |
C |
2: 154,376,796 (GRCm39) |
|
probably benign |
Het |
| Ccdc96 |
A |
T |
5: 36,643,445 (GRCm39) |
T484S |
possibly damaging |
Het |
| Cckar |
GCTTAGCCTCTTCT |
GCT |
5: 53,857,641 (GRCm39) |
|
probably null |
Het |
| Ccl4 |
T |
A |
11: 83,554,280 (GRCm39) |
|
probably benign |
Het |
| Cpt1b |
A |
G |
15: 89,302,073 (GRCm39) |
Y702H |
probably benign |
Het |
| Cr1l |
G |
A |
1: 194,800,101 (GRCm39) |
T153I |
probably damaging |
Het |
| Cyth2 |
C |
A |
7: 45,460,009 (GRCm39) |
E57* |
probably null |
Het |
| Daxx |
T |
A |
17: 34,132,594 (GRCm39) |
S575T |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,061,890 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,521,956 (GRCm39) |
D1923G |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,162,937 (GRCm39) |
T428A |
probably benign |
Het |
| Dnm2 |
G |
T |
9: 21,411,639 (GRCm39) |
A619S |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,723,457 (GRCm39) |
T639A |
probably benign |
Het |
| Epsti1 |
A |
T |
14: 78,177,366 (GRCm39) |
H182L |
probably damaging |
Het |
| Exoc3l |
C |
T |
8: 106,020,175 (GRCm39) |
R250Q |
probably benign |
Het |
| Ggn |
G |
T |
7: 28,870,665 (GRCm39) |
|
probably null |
Het |
| Il1rap |
A |
G |
16: 26,511,544 (GRCm39) |
N196S |
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,946,961 (GRCm39) |
T335A |
probably damaging |
Het |
| Itga1 |
G |
A |
13: 115,148,854 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
G |
T |
8: 95,830,098 (GRCm39) |
Q557K |
possibly damaging |
Het |
| Krt23 |
A |
G |
11: 99,369,027 (GRCm39) |
I422T |
probably benign |
Het |
| Lcn2 |
A |
G |
2: 32,274,901 (GRCm39) |
|
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,364,619 (GRCm39) |
T326A |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,047,506 (GRCm39) |
I909V |
possibly damaging |
Het |
| Lrrc14 |
G |
T |
15: 76,598,552 (GRCm39) |
R396L |
probably benign |
Het |
| Lypd6 |
T |
G |
2: 50,055,679 (GRCm39) |
|
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,819,645 (GRCm39) |
N610S |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,453,987 (GRCm39) |
N959I |
probably benign |
Het |
| Mctp2 |
C |
T |
7: 71,740,012 (GRCm39) |
V793I |
possibly damaging |
Het |
| Med25 |
A |
C |
7: 44,529,982 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
C |
1: 52,748,616 (GRCm39) |
Y83C |
probably damaging |
Het |
| Mtbp |
A |
T |
15: 55,488,820 (GRCm39) |
M499L |
probably damaging |
Het |
| Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,085,333 (GRCm39) |
I542T |
probably damaging |
Het |
| Nr1h3 |
A |
G |
2: 91,022,358 (GRCm39) |
M90T |
probably damaging |
Het |
| Nsmce4a |
A |
G |
7: 130,147,623 (GRCm39) |
|
probably benign |
Het |
| Or5d40 |
T |
A |
2: 88,015,854 (GRCm39) |
I211N |
possibly damaging |
Het |
| Pbx3 |
A |
T |
2: 34,114,572 (GRCm39) |
S46T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,516,818 (GRCm39) |
F575I |
possibly damaging |
Het |
| Ptpn13 |
G |
T |
5: 103,713,091 (GRCm39) |
S1738I |
probably benign |
Het |
| Rnf126 |
G |
T |
10: 79,595,057 (GRCm39) |
P269Q |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,477,468 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
C |
T |
4: 150,233,978 (GRCm39) |
A31V |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,340,218 (GRCm39) |
D487G |
probably damaging |
Het |
| Son |
G |
T |
16: 91,453,032 (GRCm39) |
G593V |
probably damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,850,964 (GRCm39) |
N388S |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,922,668 (GRCm39) |
M927K |
possibly damaging |
Het |
| Taf13 |
A |
G |
3: 108,479,038 (GRCm39) |
M1V |
probably null |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,902,603 (GRCm39) |
F286S |
probably damaging |
Het |
| Trpm2 |
A |
C |
10: 77,779,824 (GRCm39) |
|
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,353,438 (GRCm39) |
M390V |
possibly damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,968 (GRCm39) |
Q238L |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,676,213 (GRCm39) |
E368G |
probably damaging |
Het |
| Zfr2 |
G |
T |
10: 81,087,170 (GRCm39) |
|
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 |
|
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 |
|
R6843:Oprl1
|
UTSW |
2 |
181,357,547 (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'- ATTCGACGACTTCGTGGTGTCC -3'
(R):5'- TAGAGAGCAGTGACCTGTGTGAGC -3'
Sequencing Primer
(F):5'- TTTCAGGCTCCCGAGAGAAG -3'
(R):5'- AGCTCCGTGTTGGGTGTAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation