Incidental Mutation 'R1564:Oprl1'
ID 175087
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 039603-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.331) question?
Stock # R1564 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 181356809-181362778 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 181360733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 222 (I222T)
Ref Sequence ENSEMBL: ENSMUSP00000104394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071585] [ENSMUST00000108763] [ENSMUST00000108766] [ENSMUST00000108767] [ENSMUST00000108768] [ENSMUST00000148334] [ENSMUST00000183693] [ENSMUST00000184127] [ENSMUST00000184795]
AlphaFold P35377
Predicted Effect probably benign
Transcript: ENSMUST00000071585
AA Change: I236T

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000071513
Gene: ENSMUSG00000027584
AA Change: I236T

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000108763
AA Change: I222T

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104394
Gene: ENSMUSG00000027584
AA Change: I222T

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: I236T

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104398
Gene: ENSMUSG00000027584
AA Change: I236T

DomainStartEndE-ValueType
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: I236T

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104399
Gene: ENSMUSG00000027584
AA Change: I236T

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000148334
SMART Domains Protein: ENSMUSP00000118664
Gene: ENSMUSG00000027584

DomainStartEndE-ValueType
Pfam:7tm_1 65 140 5.9e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151241
Predicted Effect probably benign
Transcript: ENSMUST00000183693
SMART Domains Protein: ENSMUSP00000138810
Gene: ENSMUSG00000027584

DomainStartEndE-ValueType
SCOP:d1l9ha_ 21 77 1e-3 SMART
PDB:4EA3|B 41 76 9e-17 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000184127
SMART Domains Protein: ENSMUSP00000139119
Gene: ENSMUSG00000027584

DomainStartEndE-ValueType
SCOP:d1l9ha_ 21 76 3e-4 SMART
PDB:4EA3|B 41 76 1e-16 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000184795
SMART Domains Protein: ENSMUSP00000138979
Gene: ENSMUSG00000027584

DomainStartEndE-ValueType
SCOP:d1l9ha_ 21 71 2e-3 SMART
PDB:4EA3|B 41 71 5e-13 PDB
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.0%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,384,316 (GRCm39) Q3923* probably null Het
Abcc12 T A 8: 87,244,115 (GRCm39) T1013S probably benign Het
Acad9 T C 3: 36,143,578 (GRCm39) I558T possibly damaging Het
Agbl4 C A 4: 110,812,761 (GRCm39) probably null Het
Akr1b1 C T 6: 34,283,470 (GRCm39) probably null Het
Aktip A G 8: 91,857,709 (GRCm39) M1T probably null Het
Apc G T 18: 34,448,202 (GRCm39) Q1665H probably benign Het
Arfgef3 T C 10: 18,467,452 (GRCm39) D1916G probably damaging Het
Arhgef11 T C 3: 87,609,817 (GRCm39) V365A probably benign Het
Bank1 C A 3: 135,919,602 (GRCm39) E265* probably null Het
Bbs7 A T 3: 36,629,944 (GRCm39) D578E probably damaging Het
Bin3 T C 14: 70,372,218 (GRCm39) F172L probably damaging Het
Bves A G 10: 45,245,377 (GRCm39) D350G probably benign Het
Cacna1h A T 17: 25,596,835 (GRCm39) C80* probably null Het
Cacna2d4 T C 6: 119,218,156 (GRCm39) F164L possibly damaging Het
Cenpj T C 14: 56,789,523 (GRCm39) D842G probably benign Het
Col12a1 C A 9: 79,521,122 (GRCm39) R2781L probably damaging Het
Cyp2c68 A T 19: 39,724,024 (GRCm39) C213* probably null Het
Defb33 T A 8: 21,387,597 (GRCm39) C45S possibly damaging Het
Dolk A T 2: 30,175,633 (GRCm39) N137K probably damaging Het
Fam171b G A 2: 83,710,628 (GRCm39) E767K probably damaging Het
Fbxl20 A T 11: 97,989,312 (GRCm39) D189E probably damaging Het
Gm10643 A T 8: 84,791,111 (GRCm39) M1K probably null Het
Gm572 T G 4: 148,735,643 (GRCm39) I24S possibly damaging Het
Gnpda1 A G 18: 38,471,142 (GRCm39) probably null Het
Gpr141b T C 13: 19,913,470 (GRCm39) noncoding transcript Het
Helz2 G T 2: 180,875,021 (GRCm39) N1824K probably benign Het
Insl3 G T 8: 72,142,935 (GRCm39) A99S possibly damaging Het
Lpin2 G A 17: 71,532,055 (GRCm39) V137I probably benign Het
Lrrc9 A G 12: 72,533,827 (GRCm39) E1032G probably damaging Het
Macf1 T C 4: 123,353,150 (GRCm39) T1510A probably benign Het
Mnd1 T C 3: 84,023,738 (GRCm39) E116G probably benign Het
Mycbp2 A G 14: 103,407,287 (GRCm39) probably null Het
Myoz3 G A 18: 60,713,914 (GRCm39) S23L probably benign Het
Napsa G T 7: 44,236,073 (GRCm39) V371F probably damaging Het
Nefh T C 11: 4,889,878 (GRCm39) T914A unknown Het
Neurod2 A T 11: 98,218,250 (GRCm39) C305S probably damaging Het
Nmnat3 T C 9: 98,236,219 (GRCm39) probably null Het
Nuf2 A G 1: 169,326,362 (GRCm39) V463A unknown Het
Olfml1 A T 7: 107,170,346 (GRCm39) T78S possibly damaging Het
Opcml G A 9: 28,814,612 (GRCm39) C288Y probably damaging Het
Or13a28 G A 7: 140,217,967 (GRCm39) V118I probably benign Het
Or4c104 A T 2: 88,587,000 (GRCm39) N6K possibly damaging Het
Or4c122 G T 2: 89,080,016 (GRCm39) N7K probably benign Het
Or6c210 T C 10: 129,495,884 (GRCm39) F70L probably benign Het
Pcsk5 A G 19: 17,632,120 (GRCm39) Y349H probably damaging Het
Pla2g4d C A 2: 120,099,384 (GRCm39) R706L possibly damaging Het
Pmm1 A G 15: 81,840,401 (GRCm39) Y55H probably damaging Het
Polb A G 8: 23,120,357 (GRCm39) probably null Het
Pom121l2 T C 13: 22,167,523 (GRCm39) I598T possibly damaging Het
Pxmp2 C T 5: 110,429,062 (GRCm39) probably null Het
Rbm39 G T 2: 155,996,177 (GRCm39) L403I probably benign Het
Rec8 T C 14: 55,859,732 (GRCm39) probably null Het
Reck T C 4: 43,912,061 (GRCm39) I190T probably benign Het
Rer1 A T 4: 155,160,050 (GRCm39) I166N probably damaging Het
Rgs17 T A 10: 5,792,567 (GRCm39) K60* probably null Het
Ripor2 C T 13: 24,859,768 (GRCm39) T152M probably damaging Het
Scgb1b2 A T 7: 30,991,200 (GRCm39) probably benign Het
Scn3a C A 2: 65,344,979 (GRCm39) R503M probably damaging Het
Scn4a C A 11: 106,236,367 (GRCm39) D298Y probably benign Het
Scn9a A G 2: 66,314,648 (GRCm39) F1679S probably damaging Het
Scyl3 G T 1: 163,767,553 (GRCm39) probably null Het
Sec23ip A G 7: 128,368,005 (GRCm39) probably null Het
She C T 3: 89,756,921 (GRCm39) A325V possibly damaging Het
Skint2 T G 4: 112,483,195 (GRCm39) M200R probably damaging Het
Slc17a5 A T 9: 78,485,981 (GRCm39) C35S probably damaging Het
Slc25a24 T A 3: 109,070,819 (GRCm39) S393T probably damaging Het
Slc6a19 C T 13: 73,834,243 (GRCm39) V320M probably damaging Het
Snap91 T C 9: 86,674,249 (GRCm39) D579G possibly damaging Het
Spats2l C T 1: 57,985,383 (GRCm39) R479C probably damaging Het
Syngr3 G C 17: 24,905,642 (GRCm39) probably null Het
Tas2r107 A C 6: 131,636,785 (GRCm39) I88R probably damaging Het
Them7 A T 2: 105,128,259 (GRCm39) N80I probably damaging Het
Tmprss7 C T 16: 45,482,516 (GRCm39) probably null Het
Tnrc6b A G 15: 80,764,369 (GRCm39) N624D possibly damaging Het
Trpm2 T G 10: 77,778,833 (GRCm39) I378L probably benign Het
Ttn C A 2: 76,554,876 (GRCm39) W30676L probably damaging Het
Ttn A G 2: 76,774,384 (GRCm39) V2220A unknown Het
Uba6 T C 5: 86,302,266 (GRCm39) T134A probably benign Het
Vmn2r55 A G 7: 12,418,678 (GRCm39) S81P probably damaging Het
Zfp616 T A 11: 73,975,548 (GRCm39) S606T probably damaging Het
Zfp653 C A 9: 21,967,155 (GRCm39) A577S probably damaging Het
Other mutations in Oprl1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTCGGACATCCAGTAAAGCCCAGG -3'
(R):5'- TGCAGAAGCGCAGAATGGCTAC -3'

Sequencing Primer
(F):5'- TGAAGGTCAGTGGGCAGTC -3'
(R):5'- TGAACCAGGACAAAGACCTG -3'
Posted On 2014-04-24