Incidental Mutation 'R6284:Oprl1'
ID |
529323 |
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 |
044454-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.331)
|
Stock # |
R6284 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
181356809-181362778 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 181359784 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071585]
[ENSMUST00000108763]
[ENSMUST00000108766]
[ENSMUST00000108767]
[ENSMUST00000108768]
[ENSMUST00000183693]
[ENSMUST00000148334]
[ENSMUST00000184795]
[ENSMUST00000184127]
|
AlphaFold |
P35377 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071585
|
SMART Domains |
Protein: ENSMUSP00000071513 Gene: ENSMUSG00000027584
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 |
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
|
SMART Domains |
Protein: ENSMUSP00000104398 Gene: ENSMUSG00000027584
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
|
SMART Domains |
Protein: ENSMUSP00000104399 Gene: ENSMUSG00000027584
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: ENSMUST00000126835
|
Predicted Effect |
unknown
Transcript: ENSMUST00000183693
AA Change: F87L
|
SMART Domains |
Protein: ENSMUSP00000138810 Gene: ENSMUSG00000027584 AA Change: F87L
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: ENSMUST00000148334
|
SMART Domains |
Protein: ENSMUSP00000118664 Gene: ENSMUSG00000027584
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
65 |
140 |
5.9e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151241
|
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: 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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (64/64) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610030E20Rik |
G |
T |
6: 72,324,437 (GRCm39) |
G16C |
probably damaging |
Het |
Abca7 |
G |
A |
10: 79,840,244 (GRCm39) |
V801I |
probably benign |
Het |
Adgrl2 |
A |
T |
3: 148,532,143 (GRCm39) |
L1030Q |
probably damaging |
Het |
Akap1 |
T |
C |
11: 88,735,394 (GRCm39) |
T423A |
possibly damaging |
Het |
Anpep |
T |
A |
7: 79,475,550 (GRCm39) |
D111V |
probably damaging |
Het |
Atm |
T |
A |
9: 53,356,676 (GRCm39) |
|
probably null |
Het |
Atp5f1a |
T |
A |
18: 77,866,168 (GRCm39) |
S106T |
probably benign |
Het |
Atp5me |
T |
C |
5: 108,581,925 (GRCm39) |
I20V |
probably benign |
Het |
Atp6v0d2 |
T |
A |
4: 19,922,605 (GRCm39) |
|
probably null |
Het |
Bclaf1 |
T |
G |
10: 20,197,906 (GRCm39) |
|
probably null |
Het |
Bod1l |
A |
G |
5: 41,976,130 (GRCm39) |
V1728A |
probably benign |
Het |
Braf |
A |
G |
6: 39,665,216 (GRCm39) |
F51L |
possibly damaging |
Het |
Camsap2 |
A |
G |
1: 136,232,175 (GRCm39) |
I140T |
possibly damaging |
Het |
Ccdc24 |
A |
T |
4: 117,726,850 (GRCm39) |
|
probably null |
Het |
Cdh26 |
G |
C |
2: 178,091,677 (GRCm39) |
G79R |
probably damaging |
Het |
Cenpf |
A |
G |
1: 189,384,939 (GRCm39) |
L2447P |
probably damaging |
Het |
Cfap74 |
T |
C |
4: 155,536,253 (GRCm39) |
F863L |
probably damaging |
Het |
Clstn2 |
C |
T |
9: 97,336,727 (GRCm39) |
G917S |
probably benign |
Het |
Col6a6 |
A |
T |
9: 105,604,426 (GRCm39) |
|
probably null |
Het |
Cul5 |
G |
A |
9: 53,535,035 (GRCm39) |
P596L |
probably damaging |
Het |
Dst |
A |
T |
1: 34,268,166 (GRCm39) |
R2863W |
probably damaging |
Het |
Dthd1 |
A |
G |
5: 62,971,384 (GRCm39) |
E69G |
possibly damaging |
Het |
Elp1 |
A |
T |
4: 56,762,281 (GRCm39) |
I1106K |
probably damaging |
Het |
Erich2 |
T |
A |
2: 70,370,028 (GRCm39) |
I402N |
probably damaging |
Het |
Fam162b |
T |
C |
10: 51,461,598 (GRCm39) |
K155R |
probably damaging |
Het |
Fhip1a |
G |
A |
3: 85,579,995 (GRCm39) |
P737S |
probably benign |
Het |
Glb1l2 |
A |
T |
9: 26,678,744 (GRCm39) |
S466T |
probably benign |
Het |
Kazn |
G |
A |
4: 141,844,508 (GRCm39) |
L402F |
probably benign |
Het |
Kcnj13 |
A |
T |
1: 87,314,608 (GRCm39) |
S205T |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,117,091 (GRCm39) |
V2462E |
probably damaging |
Het |
Lce1b |
A |
C |
3: 92,563,411 (GRCm39) |
C41G |
unknown |
Het |
Lyar |
T |
A |
5: 38,383,339 (GRCm39) |
W77R |
probably damaging |
Het |
Marchf11 |
G |
A |
15: 26,409,432 (GRCm39) |
R377Q |
probably benign |
Het |
Mis18bp1 |
A |
G |
12: 65,185,561 (GRCm39) |
F869L |
probably benign |
Het |
Myom1 |
T |
A |
17: 71,329,887 (GRCm39) |
Y6* |
probably null |
Het |
Myzap |
T |
C |
9: 71,466,207 (GRCm39) |
I150V |
probably benign |
Het |
Nop14 |
C |
T |
5: 34,798,835 (GRCm39) |
|
probably null |
Het |
Pacsin1 |
T |
C |
17: 27,927,478 (GRCm39) |
L432P |
probably damaging |
Het |
Peak1 |
A |
G |
9: 56,167,580 (GRCm39) |
L116P |
probably benign |
Het |
Plcb2 |
C |
T |
2: 118,547,782 (GRCm39) |
V482M |
probably benign |
Het |
Pnliprp1 |
T |
A |
19: 58,723,416 (GRCm39) |
I269N |
probably damaging |
Het |
Pnpla7 |
C |
A |
2: 24,906,630 (GRCm39) |
D664E |
possibly damaging |
Het |
Ppa2 |
G |
A |
3: 133,076,178 (GRCm39) |
R269H |
probably benign |
Het |
Rps6kb2 |
G |
T |
19: 4,211,186 (GRCm39) |
T113K |
probably benign |
Het |
Rrp7a |
A |
T |
15: 83,006,061 (GRCm39) |
I63N |
probably damaging |
Het |
Slc29a1 |
A |
G |
17: 45,900,847 (GRCm39) |
|
probably null |
Het |
Slco1a7 |
T |
C |
6: 141,671,119 (GRCm39) |
D451G |
probably damaging |
Het |
Stxbp5 |
C |
A |
10: 9,642,931 (GRCm39) |
G1056V |
probably damaging |
Het |
Stxbp5 |
A |
C |
10: 9,642,923 (GRCm39) |
S1059A |
probably benign |
Het |
Taldo1 |
T |
A |
7: 140,978,496 (GRCm39) |
S149T |
possibly damaging |
Het |
Tlr1 |
T |
C |
5: 65,084,442 (GRCm39) |
D45G |
possibly damaging |
Het |
Tnrc6a |
T |
C |
7: 122,770,558 (GRCm39) |
S783P |
probably damaging |
Het |
Trap1 |
A |
G |
16: 3,878,673 (GRCm39) |
Y220H |
probably benign |
Het |
Trpc6 |
A |
G |
9: 8,643,601 (GRCm39) |
D462G |
possibly damaging |
Het |
Ttc21a |
A |
G |
9: 119,773,028 (GRCm39) |
E235G |
probably damaging |
Het |
Tubb4a |
A |
G |
17: 57,387,833 (GRCm39) |
Y398H |
probably damaging |
Het |
Ube2z |
A |
G |
11: 95,941,233 (GRCm39) |
F303S |
probably damaging |
Het |
Vmn1r211 |
A |
G |
13: 23,036,254 (GRCm39) |
S138P |
probably damaging |
Het |
Zfp1002 |
T |
A |
2: 150,097,198 (GRCm39) |
Y77F |
possibly damaging |
Het |
Zfp93 |
T |
A |
7: 23,975,054 (GRCm39) |
C346* |
probably null |
Het |
Zfp938 |
A |
T |
10: 82,063,400 (GRCm39) |
S52R |
possibly damaging |
Het |
Zp1 |
A |
T |
19: 10,893,867 (GRCm39) |
L446Q |
probably damaging |
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 |
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'- AGGTCAGATGAGAAAGTTGGTTTTC -3'
(R):5'- TACACCCAAGGTCCACTGAG -3'
Sequencing Primer
(F):5'- ctggaaatggaactcaggt -3'
(R):5'- GGTCCACTGAGCCTAGGACTTTAAC -3'
|
Posted On |
2018-07-27 |