Mutagenetix > Incidental Mutation

Incidental Mutation 'R6374:Oprl1'

513670

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

044524-MU

Accession Numbers

Essential gene?

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

Stock #

R6374 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181356809-181362778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181357721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 69 (V69A)

Ref Sequence

ENSEMBL: ENSMUSP00000138810 (fasta)

Gene Model

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

AlphaFold

P35377

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071585
AA Change: V69A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071513
Gene: ENSMUSG00000027584
AA Change: V69A

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: S44P

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104394
Gene: ENSMUSG00000027584
AA Change: S44P

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

possibly damaging
Transcript: ENSMUST00000108766
AA Change: V69A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104397
Gene: ENSMUSG00000027584
AA Change: V69A

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

possibly damaging
Transcript: ENSMUST00000108767
AA Change: V69A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104398
Gene: ENSMUSG00000027584
AA Change: V69A

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

possibly damaging
Transcript: ENSMUST00000108768
AA Change: V69A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104399
Gene: ENSMUSG00000027584
AA Change: V69A

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: V69A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118664
Gene: ENSMUSG00000027584
AA Change: V69A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000183693
AA Change: V69A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138810
Gene: ENSMUSG00000027584
AA Change: V69A

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	21	77	1e-3	SMART
PDB:4EA3\|B	41	76	9e-17	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184127
AA Change: V69A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139119
Gene: ENSMUSG00000027584
AA Change: V69A

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	21	76	3e-4	SMART
PDB:4EA3\|B	41	76	1e-16	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000184795
AA Change: V69A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138979
Gene: ENSMUSG00000027584
AA Change: V69A

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	21	71	2e-3	SMART
PDB:4EA3\|B	41	71	5e-13	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151241

Meta Mutation Damage Score

0.5969

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

99% (75/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,314,800 (GRCm39)	S293A	possibly damaging	Het
5430401F13Rik	A	T	6: 131,529,892 (GRCm39)	Q162L	unknown	Het
Abca8a	A	T	11: 109,974,216 (GRCm39)	Y239*	probably null	Het
Aox3	T	C	1: 58,211,320 (GRCm39)	I959T	probably benign	Het
Atad2b	T	C	12: 5,068,002 (GRCm39)	V1000A	probably damaging	Het
Atic	C	T	1: 71,604,100 (GRCm39)	T221M	probably damaging	Het
Atp1a2	C	T	1: 172,116,942 (GRCm39)	R225H	probably damaging	Het
BC024139	A	G	15: 76,004,657 (GRCm39)		probably null	Het
Bpi	A	T	2: 158,113,974 (GRCm39)	T291S	probably damaging	Het
Ccdc170	C	T	10: 4,499,746 (GRCm39)	Q556*	probably null	Het
Cd3e	G	A	9: 44,920,661 (GRCm39)	L12F	probably benign	Het
Cdc42ep1	A	T	15: 78,731,649 (GRCm39)	R31S	probably damaging	Het
Cyp21a1	G	T	17: 35,023,110 (GRCm39)		probably null	Het
Dnase1l3	A	G	14: 7,974,115 (GRCm38)	M192T	probably damaging	Het
Dnmt1	A	T	9: 20,835,341 (GRCm39)	H330Q	possibly damaging	Het
Enah	T	C	1: 181,751,145 (GRCm39)	E232G	unknown	Het
Etnppl	C	T	3: 130,414,342 (GRCm39)	T73I	probably damaging	Het
Fam83b	T	A	9: 76,400,189 (GRCm39)	I305F	probably benign	Het
Galnt15	T	A	14: 31,780,116 (GRCm39)	I471N	probably damaging	Het
Gm19965	T	A	1: 116,750,021 (GRCm39)	N567K	probably benign	Het
Golga1	T	C	2: 38,924,080 (GRCm39)	Q435R	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Hao1	T	G	2: 134,365,024 (GRCm39)	D201A	probably benign	Het
Heg1	T	C	16: 33,547,499 (GRCm39)	L786P	possibly damaging	Het
Hnrnpll	A	T	17: 80,357,303 (GRCm39)	C238S	possibly damaging	Het
Hrg	A	G	16: 22,779,742 (GRCm39)	Y340C	probably damaging	Het
Kyat3	A	T	3: 142,443,998 (GRCm39)	I411F	probably damaging	Het
Myo1a	T	C	10: 127,543,549 (GRCm39)	Y202H	probably damaging	Het
Nags	T	C	11: 102,037,337 (GRCm39)	C143R	possibly damaging	Het
Ncoa6	T	C	2: 155,263,076 (GRCm39)	N453D	probably damaging	Het
Nup35	G	T	2: 80,488,730 (GRCm39)	M322I	probably benign	Het
Or51v14	A	G	7: 103,261,128 (GRCm39)	L144P	probably benign	Het
Pappa2	T	A	1: 158,784,215 (GRCm39)	Y265F	probably damaging	Het
Pcsk6	C	T	7: 65,629,903 (GRCm39)	P343L	possibly damaging	Het
Peak1	C	A	9: 56,164,950 (GRCm39)	D993Y	probably damaging	Het
Polr2a	T	C	11: 69,627,758 (GRCm39)	Y1383C	probably damaging	Het
Ppme1	A	G	7: 99,990,272 (GRCm39)	S226P	probably damaging	Het
Prom1	C	T	5: 44,213,325 (GRCm39)	C127Y	probably damaging	Het
Ptpn6	A	T	6: 124,709,532 (GRCm39)		probably null	Het
Reln	T	C	5: 22,285,712 (GRCm39)	E419G	probably benign	Het
Rnf32	C	T	5: 29,430,266 (GRCm39)	Q362*	probably null	Het
Sbspon	T	C	1: 15,953,887 (GRCm39)	D131G	probably benign	Het
Scyl3	T	C	1: 163,776,783 (GRCm39)	S392P	probably benign	Het
Shtn1	T	A	19: 59,026,728 (GRCm39)	D121V	possibly damaging	Het
Sin3a	A	G	9: 57,024,765 (GRCm39)	T1042A	probably benign	Het
Sipa1l2	A	T	8: 126,171,369 (GRCm39)	V1371D	probably damaging	Het
Slc20a2	T	C	8: 23,055,668 (GRCm39)	V584A	possibly damaging	Het
Smc6	T	A	12: 11,355,874 (GRCm39)		probably null	Het
Spata31h1	T	A	10: 82,124,731 (GRCm39)		probably benign	Het
Specc1	C	T	11: 62,047,418 (GRCm39)	T849I	possibly damaging	Het
Spta1	T	A	1: 174,041,734 (GRCm39)	L1368H	probably damaging	Het
Sqle	A	G	15: 59,187,959 (GRCm39)	E89G	possibly damaging	Het
Strbp	A	G	2: 37,493,020 (GRCm39)	V422A	probably damaging	Het
Sult6b1	G	T	17: 79,214,360 (GRCm39)	T21K	probably benign	Het
Tex15	A	G	8: 34,065,940 (GRCm39)	E1790G	probably damaging	Het
Tmem88b	T	A	4: 155,870,221 (GRCm39)		probably benign	Het
Traf3ip3	T	C	1: 192,864,318 (GRCm39)	D355G	possibly damaging	Het
Trim24	T	A	6: 37,930,484 (GRCm39)	V576E	probably benign	Het
Trim30c	C	T	7: 104,039,609 (GRCm39)	G62D	probably benign	Het
Trim66	T	G	7: 109,085,269 (GRCm39)	K100N	probably benign	Het
Tsnaxip1	A	T	8: 106,568,172 (GRCm39)	T313S	possibly damaging	Het
Ugt2b37	A	T	5: 87,390,279 (GRCm39)	I389N	probably damaging	Het
Unc13a	C	T	8: 72,094,097 (GRCm39)	V1335M	possibly damaging	Het
Urah	A	G	7: 140,415,124 (GRCm39)	T5A	probably benign	Het
Usp34	T	C	11: 23,388,914 (GRCm39)	Y2185H	probably damaging	Het
Usp44	T	C	10: 93,692,172 (GRCm39)	S643P	probably benign	Het
Vars2	A	G	17: 35,970,937 (GRCm39)	V631A	probably damaging	Het
Vmn2r11	G	A	5: 109,201,679 (GRCm39)	T275I	possibly damaging	Het
Vmn2r54	C	A	7: 12,349,420 (GRCm39)	V721F	probably damaging	Het
Vmn2r79	T	C	7: 86,651,498 (GRCm39)	I299T	probably benign	Het
Vps13d	T	C	4: 144,849,251 (GRCm39)	T2387A	probably damaging	Het
Washc5	A	T	15: 59,209,044 (GRCm39)	L610Q	probably benign	Het
Zbtb21	T	C	16: 97,751,568 (GRCm39)	E905G	probably damaging	Het
Zfhx4	A	G	3: 5,309,095 (GRCm39)	T774A	probably damaging	Het
Zfp534	T	C	4: 147,759,299 (GRCm39)	I457V	probably benign	Het
Zfp964	T	C	8: 70,111,994 (GRCm39)	Y29H	possibly damaging	Het
Znrf4	A	G	17: 56,818,702 (GRCm39)	F202L	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
R6284:Oprl1	UTSW	2	181,359,784 (GRCm39)	intron	probably benign
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'- AGGTCTTGTATGGCAGCCAC -3'
(R):5'- TTATCTGCAGTACCAAGCCTCC -3'

Sequencing Primer
(F):5'- TATGGCAGCCACTTTCAAGG -3'
(R):5'- AGTACCAAGCCTCCAGGTG -3'

Posted On

2018-04-27