Mutagenetix > Incidental Mutation

Incidental Mutation 'R8329:Oprl1'

644241

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

067859-MU

Accession Numbers

Essential gene?

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

Stock #

R8329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181356809-181362778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 181360717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 231 (C231S)

Ref Sequence

ENSEMBL: ENSMUSP00000071513 (fasta)

Gene Model

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

AlphaFold

P35377

Predicted Effect

probably damaging
Transcript: ENSMUST00000071585
AA Change: C231S

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

SMART Domains

Protein: ENSMUSP00000071513
Gene: ENSMUSG00000027584
AA Change: C231S

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: C217S

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

SMART Domains

Protein: ENSMUSP00000104394
Gene: ENSMUSG00000027584
AA Change: C217S

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 damaging
Transcript: ENSMUST00000108767
AA Change: C231S

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

SMART Domains

Protein: ENSMUSP00000104398
Gene: ENSMUSG00000027584
AA Change: C231S

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: C231S

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

SMART Domains

Protein: ENSMUSP00000104399
Gene: ENSMUSG00000027584
AA Change: C231S

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: ENSMUST00000148334

SMART Domains

Protein: ENSMUSP00000118664
Gene: ENSMUSG00000027584

Domain	Start	End	E-Value	Type
Pfam:7tm_1	65	140	5.9e-21	PFAM

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: 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: 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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,461,978 (GRCm39)		probably null	Het
Ackr4	A	G	9: 103,976,660 (GRCm39)	F96L	possibly damaging	Het
Aco1	T	C	4: 40,186,376 (GRCm39)	I596T	possibly damaging	Het
Aff3	G	A	1: 38,244,135 (GRCm39)	R879W	probably benign	Het
Apob	A	G	12: 8,061,135 (GRCm39)	R3206G	probably damaging	Het
Atg7	T	A	6: 114,663,057 (GRCm39)	D224E	possibly damaging	Het
Capn12	T	C	7: 28,582,626 (GRCm39)	F167S	probably damaging	Het
Ccdc3	T	G	2: 5,233,848 (GRCm39)	V224G	probably damaging	Het
Ces4a	G	A	8: 105,874,714 (GRCm39)	V452I	probably damaging	Het
Cherp	G	A	8: 73,215,852 (GRCm39)	R834C		Het
Clptm1l	T	A	13: 73,760,547 (GRCm39)	I310N	probably damaging	Het
Cog3	A	T	14: 75,978,003 (GRCm39)	D230E	probably damaging	Het
Crb1	T	A	1: 139,165,005 (GRCm39)	I1101F	probably damaging	Het
Cts6	A	T	13: 61,343,282 (GRCm39)	M313K	probably damaging	Het
Cyp2c66	T	A	19: 39,174,906 (GRCm39)	C435*	probably null	Het
Defb13	A	G	8: 22,438,562 (GRCm39)	E40G	probably benign	Het
Dis3l	T	C	9: 64,219,112 (GRCm39)	D606G	possibly damaging	Het
Dop1b	T	C	16: 93,568,675 (GRCm39)	L1579P	probably damaging	Het
Foxa3	A	G	7: 18,748,109 (GRCm39)	V339A	probably benign	Het
Gcn1	G	A	5: 115,747,921 (GRCm39)	G1776E	probably damaging	Het
Gls2	A	G	10: 128,037,154 (GRCm39)	T232A	probably benign	Het
Gprc6a	A	T	10: 51,503,355 (GRCm39)	Y169*	probably null	Het
Guca2b	T	C	4: 119,516,001 (GRCm39)	S18G	unknown	Het
Hars2	A	G	18: 36,922,288 (GRCm39)	D301G	possibly damaging	Het
Haus5	T	A	7: 30,358,984 (GRCm39)	Q226L	possibly damaging	Het
Hc	G	A	2: 34,902,910 (GRCm39)		probably null	Het
Hivep2	T	C	10: 14,004,011 (GRCm39)	V203A	probably damaging	Het
Hoxc8	A	G	15: 102,899,543 (GRCm39)	Y111C	probably damaging	Het
Hoxd13	G	T	2: 74,498,661 (GRCm39)	R3L	probably benign	Het
Hspa8	T	G	9: 40,713,897 (GRCm39)	I130S	probably damaging	Het
Ier5l	C	A	2: 30,362,861 (GRCm39)	C388F	possibly damaging	Het
Ldc1	C	T	4: 130,109,156 (GRCm39)	V295M	possibly damaging	Het
Lmx1a	A	G	1: 167,517,372 (GRCm39)	N10S	probably benign	Het
Map2	T	C	1: 66,454,272 (GRCm39)	I1054T	probably benign	Het
Me1	C	T	9: 86,501,790 (GRCm39)	D268N	probably damaging	Het
Muc6	G	A	7: 141,226,525 (GRCm39)	P1501S	unknown	Het
Myo1d	T	C	11: 80,528,900 (GRCm39)	M641V	probably benign	Het
Nuggc	G	A	14: 65,878,731 (GRCm39)	R667K	probably benign	Het
Or11g26	T	C	14: 50,753,015 (GRCm39)	F118S	probably damaging	Het
Or13p10	A	C	4: 118,523,604 (GRCm39)	N297H	probably damaging	Het
Pard3b	C	A	1: 62,676,957 (GRCm39)	Q1163K	probably benign	Het
Pik3c2a	T	C	7: 116,017,283 (GRCm39)	Y158C	probably damaging	Het
Prune2	T	G	19: 17,098,629 (GRCm39)	S1378A	probably benign	Het
Ralgps2	G	T	1: 156,712,110 (GRCm39)	T158K	probably damaging	Het
Rbm42	T	A	7: 30,344,582 (GRCm39)	E227V	unknown	Het
Ripor3	T	C	2: 167,825,119 (GRCm39)	R797G	possibly damaging	Het
Ryr3	T	A	2: 112,492,855 (GRCm39)	H3764L	possibly damaging	Het
Sbno2	T	C	10: 79,900,221 (GRCm39)	Y541C	probably damaging	Het
Scn5a	A	G	9: 119,365,030 (GRCm39)	V396A	probably damaging	Het
Slc36a3	A	G	11: 55,039,409 (GRCm39)	L73P	probably damaging	Het
Spag16	T	C	1: 69,934,407 (GRCm39)	I278T	probably benign	Het
Stx18	T	A	5: 38,285,450 (GRCm39)	L274*	probably null	Het
Terb1	A	T	8: 105,211,003 (GRCm39)	N341K	probably damaging	Het
Timm29	A	G	9: 21,505,001 (GRCm39)	Y223C	probably damaging	Het
Tmprss2	T	A	16: 97,369,665 (GRCm39)	M370L	probably benign	Het
Tmtc3	T	A	10: 100,283,296 (GRCm39)	N753I	probably damaging	Het
Tnpo3	A	T	6: 29,558,832 (GRCm39)	C699*	probably null	Het
Trav5d-4	G	A	14: 53,239,208 (GRCm39)	W13*	probably null	Het
Trdn	A	G	10: 33,320,074 (GRCm39)		probably null	Het
Tsg101	A	T	7: 46,558,808 (GRCm39)	Y68N	probably damaging	Het
Ttn	A	G	2: 76,664,062 (GRCm39)	V11649A	unknown	Het
Wnk2	A	T	13: 49,248,914 (GRCm39)	V379D	probably damaging	Het
Xpnpep1	A	G	19: 52,990,903 (GRCm39)		probably null	Het
Yme1l1	C	T	2: 23,054,597 (GRCm39)	Q139*	probably null	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
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
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'- ATGAAGGTCAGTGGGCAGTC -3'
(R):5'- GAAGCGCAGAATGGCTACTG -3'

Sequencing Primer
(F):5'- TCAGTGGGCAGTCCTCCTC -3'
(R):5'- AGAATGGCTACTGCAGTCTC -3'

Posted On

2020-09-02