Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02977:Oprl1'

406442

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.331) question?

Stock #

IGL02977

Quality Score

Status

Chromosome

Chromosomal Location

181356809-181362778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 181360304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 115 (C115F)

Ref Sequence

ENSEMBL: ENSMUSP00000118664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071585] [ENSMUST00000108763] [ENSMUST00000108766] [ENSMUST00000108767] [ENSMUST00000108768] [ENSMUST00000148334] [ENSMUST00000184127] [ENSMUST00000183693] [ENSMUST00000184795]

AlphaFold

P35377

Predicted Effect

probably damaging
Transcript: ENSMUST00000071585
AA Change: C120F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071513
Gene: ENSMUSG00000027584
AA Change: C120F

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 damaging
Transcript: ENSMUST00000108763
AA Change: C106F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104394
Gene: ENSMUSG00000027584
AA Change: C106F

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 damaging
Transcript: ENSMUST00000108766
AA Change: C120F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104397
Gene: ENSMUSG00000027584
AA Change: C120F

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 damaging
Transcript: ENSMUST00000108767
AA Change: C120F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104398
Gene: ENSMUSG00000027584
AA Change: C120F

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: ENSMUST00000108768
AA Change: C120F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104399
Gene: ENSMUSG00000027584
AA Change: C120F

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

probably damaging
Transcript: ENSMUST00000148334
AA Change: C115F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118664
Gene: ENSMUSG00000027584
AA Change: C115F

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: 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

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	T	8: 125,587,930 (GRCm39)	V57M	probably benign	Het
4933440M02Rik	T	A	7: 124,930,874 (GRCm39)		noncoding transcript	Het
Bmp5	A	G	9: 75,801,081 (GRCm39)	T404A	probably damaging	Het
Cep192	T	C	18: 67,985,976 (GRCm39)	V1660A	probably damaging	Het
Csmd2	C	A	4: 128,387,069 (GRCm39)	Y2121*	probably null	Het
Daam1	G	A	12: 71,990,946 (GRCm39)	A187T	unknown	Het
Dnaja4	T	C	9: 54,621,794 (GRCm39)	L343P	possibly damaging	Het
Dym	T	C	18: 75,196,246 (GRCm39)		probably null	Het
F5	A	T	1: 164,021,590 (GRCm39)	D1355V	probably damaging	Het
Fcgbpl1	C	T	7: 27,863,797 (GRCm39)	T2523M	possibly damaging	Het
Gcnt1	A	T	19: 17,306,738 (GRCm39)	I329N	probably damaging	Het
Gm10110	T	C	14: 90,134,768 (GRCm39)		noncoding transcript	Het
Hdgfl2	A	G	17: 56,406,319 (GRCm39)	N569S	possibly damaging	Het
Hivep1	T	C	13: 42,309,412 (GRCm39)	S551P	possibly damaging	Het
Hpse2	G	A	19: 42,777,561 (GRCm39)		probably benign	Het
Hspe1	T	C	1: 55,130,232 (GRCm39)	Y88H	probably benign	Het
Ifi44	A	T	3: 151,445,016 (GRCm39)	M312K	probably benign	Het
Lrp1b	T	G	2: 40,620,747 (GRCm39)	D3577A	probably damaging	Het
Mapk13	G	T	17: 28,995,322 (GRCm39)	G181V	probably damaging	Het
Or4d1	A	G	11: 87,804,956 (GRCm39)	S259P	possibly damaging	Het
Or5d37	T	C	2: 87,923,915 (GRCm39)	I122V	probably benign	Het
Psg22	A	G	7: 18,453,524 (GRCm39)	D112G	probably benign	Het
Rp1l1	T	A	14: 64,265,599 (GRCm39)	I395N	probably benign	Het
Simc1	T	C	13: 54,674,120 (GRCm39)	S823P	probably benign	Het
Slc9b1	T	C	3: 135,103,484 (GRCm39)	L538P	probably damaging	Het
Smad2	T	A	18: 76,422,235 (GRCm39)	Y216N	possibly damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tonsl	T	A	15: 76,517,073 (GRCm39)	Q882L	probably benign	Het
Trav13-2	C	T	14: 53,872,764 (GRCm39)	T80I	probably damaging	Het
Uaca	C	T	9: 60,773,662 (GRCm39)	P388S	probably benign	Het
Vmn2r116	A	G	17: 23,607,748 (GRCm39)	R439G	possibly damaging	Het
Vmn2r18	C	A	5: 151,510,149 (GRCm39)	A75S	probably damaging	Het

Other mutations in Oprl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2016-08-02