Mutagenetix > Incidental Mutations

Incidental Mutation 'R4688:Cnr1'

353832

Institutional Source

Beutler Lab

Gene Symbol

Cnr1

Ensembl Gene

ENSMUSG00000044288

Gene Name

cannabinoid receptor 1 (brain)

Synonyms

CB1R, CB1

MMRRC Submission

041939-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R4688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33924593-33948831 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33944571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 320 (I320F)

Ref Sequence

ENSEMBL: ENSMUSP00000081787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057188] [ENSMUST00000084736]

AlphaFold

P47746

Predicted Effect

probably benign
Transcript: ENSMUST00000057188
AA Change: I320F

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000055797
Gene: ENSMUSG00000044288
AA Change: I320F

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	125	319	1.4e-7	PFAM
Pfam:7TM_GPCR_Srv	126	415	1.1e-8	PFAM
Pfam:7TM_GPCR_Srsx	127	413	1.4e-14	PFAM
Pfam:7tm_1	134	398	2.4e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084736
AA Change: I320F

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081787
Gene: ENSMUSG00000044288
AA Change: I320F

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	125	319	1.9e-7	PFAM
Pfam:7TM_GPCR_Srv	126	415	1.3e-8	PFAM
Pfam:7TM_GPCR_Srsx	127	413	1.4e-14	PFAM
Pfam:7tm_1	134	398	2.2e-52	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal behaviors, altered long term depression and susceptibility to induced seizure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,593,449	S530P	probably benign	Het
1700003E16Rik	A	G	6: 83,162,698	N535S	probably damaging	Het
2810403A07Rik	T	A	3: 88,686,517	M71K	probably damaging	Het
9930021J03Rik	A	G	19: 29,717,101	I1664T	probably benign	Het
Abcc12	T	C	8: 86,548,694	S452G	possibly damaging	Het
Acacb	C	A	5: 114,204,763	Q897K	probably benign	Het
Acot3	C	A	12: 84,053,917	R145S	probably damaging	Het
AI314180	A	G	4: 58,840,757	V667A	probably damaging	Het
Ankrd54	A	T	15: 79,054,582	Y247N	probably damaging	Het
Arl11	G	A	14: 61,311,097	V119I	probably benign	Het
Atxn7	T	A	14: 14,089,288	M268K	probably benign	Het
Bms1	G	A	6: 118,392,706	R934C	probably damaging	Het
Ccdc129	G	A	6: 55,967,147		probably null	Het
Chrnb3	T	C	8: 27,394,119	S295P	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 25,291,670		probably null	Het
Cntn4	C	T	6: 106,437,949	P147L	probably damaging	Het
Col24a1	G	A	3: 145,314,383	V172I	probably benign	Het
Col9a3	A	G	2: 180,607,631	D262G	probably damaging	Het
Csrnp2	A	G	15: 100,482,360	V350A	probably damaging	Het
D630045J12Rik	A	G	6: 38,196,657	V192A	possibly damaging	Het
Deptor	A	G	15: 55,208,781	M219V	probably benign	Het
Dmrtb1	A	T	4: 107,684,050	L38Q	probably damaging	Het
Dvl2	G	A	11: 70,007,518	R367Q	possibly damaging	Het
Dync1h1	T	G	12: 110,655,528	I3435S	probably damaging	Het
Eif2b3	A	G	4: 117,058,849	N218D	probably benign	Het
Epha2	A	G	4: 141,318,981	D497G	probably benign	Het
Epha7	G	T	4: 28,821,367	L177F	probably damaging	Het
Fam214b	A	G	4: 43,034,663	F352S	probably damaging	Het
Fam98c	C	T	7: 29,155,241	E147K	probably damaging	Het
Fbxo17	A	G	7: 28,732,554	T19A	probably benign	Het
Fbxo47	A	G	11: 97,856,223	F339S	probably damaging	Het
Frmd4a	G	T	2: 4,537,311	V234L	possibly damaging	Het
Gal3st2	A	G	1: 93,872,523	D32G	probably damaging	Het
Gpr135	T	C	12: 72,070,946	T16A	probably benign	Het
Gpr160	A	T	3: 30,896,686	R302S	probably benign	Het
Hrh2	C	A	13: 54,214,801	N265K	probably benign	Het
Htatip2	C	A	7: 49,773,423	A242E	probably damaging	Het
Igfbp7	T	C	5: 77,407,635	Y127C	probably damaging	Het
Igkv16-104	A	G	6: 68,425,894	Q57R	possibly damaging	Het
Ino80c	A	G	18: 24,108,846	S161P	probably damaging	Het
Kcnc1	A	G	7: 46,397,835	D53G	probably benign	Het
Lce1h	G	T	3: 92,763,567	R93S	unknown	Het
Lce1k	T	C	3: 92,806,644	S78G	unknown	Het
Lhcgr	T	A	17: 88,765,152	I156F	probably damaging	Het
Lpl	T	C	8: 68,899,425	Y343H	probably damaging	Het
Lrp6	G	T	6: 134,479,743	R853S	probably damaging	Het
Lrrc7	A	G	3: 158,148,605	V1322A	probably damaging	Het
Lrrc74a	C	T	12: 86,737,698	Q67*	probably null	Het
Megf6	A	T	4: 154,253,814	D447V	probably damaging	Het
Mep1a	T	C	17: 43,482,248	D355G	possibly damaging	Het
Ncoa1	T	C	12: 4,315,781	D95G	probably benign	Het
Npepl1	A	T	2: 174,114,442	I139F	possibly damaging	Het
Nrcam	T	C	12: 44,547,237	S262P	probably benign	Het
Nrp1	A	G	8: 128,502,566	N842D	probably benign	Het
Olfml3	A	G	3: 103,732,181		probably benign	Het
Olfr1375	A	G	11: 51,048,988	R294G	probably damaging	Het
Olfr1505	A	T	19: 13,919,241	T74S	probably benign	Het
Olfr32	T	A	2: 90,138,999	N47Y	possibly damaging	Het
Olfr421-ps1	T	C	1: 174,151,596	Y27H	possibly damaging	Het
Olfr711	T	A	7: 106,971,861	Y161F	probably benign	Het
Olfr773	G	A	10: 129,186,645	P259S	probably damaging	Het
Olfr918	A	G	9: 38,673,363	L27P	probably damaging	Het
Pde2a	A	G	7: 101,502,834	N316S	probably benign	Het
Pde4dip	T	A	3: 97,843,677	R74*	probably null	Het
Pex13	A	T	11: 23,655,472	W253R	possibly damaging	Het
Piezo1	A	T	8: 122,488,539	W1444R	probably damaging	Het
Pla2g4e	T	C	2: 120,167,933	K843R	possibly damaging	Het
Plxna2	C	T	1: 194,644,445	P229L	probably damaging	Het
Prelid3b	G	T	2: 174,466,799	T131K	probably benign	Het
Pros1	T	C	16: 62,889,007		probably null	Het
Prrc2c	G	T	1: 162,697,687	P450Q	unknown	Het
Ptbp1	G	T	10: 79,856,508	V5F	possibly damaging	Het
Ptk2	T	A	15: 73,206,225	L997F	probably damaging	Het
Rims1	G	T	1: 22,479,447	S525*	probably null	Het
Sh2b3	T	A	5: 121,818,634	D318V	probably benign	Het
Slc16a13	A	T	11: 70,220,275	I88N	probably damaging	Het
Slit2	T	A	5: 48,257,003		probably null	Het
Snx10	A	G	6: 51,579,938	N67S	probably damaging	Het
Stil	A	G	4: 115,041,308	Y1045C	probably damaging	Het
Stra6	A	G	9: 58,135,076		probably null	Het
Sympk	A	G	7: 19,054,410	S1254G	probably benign	Het
Syt15	G	T	14: 34,228,054	G377V	probably damaging	Het
Taar4	A	T	10: 23,960,833	I114F	probably damaging	Het
Tcaf3	G	A	6: 42,593,366		probably null	Het
Tgm7	A	T	2: 121,094,021	N558K	probably benign	Het
Tln2	T	G	9: 67,397,653	M1L	probably benign	Het
Trim50	C	T	5: 135,367,140	T314I	probably damaging	Het
Trp53rka	A	T	2: 165,491,392	Y192*	probably null	Het
Ube3b	T	C	5: 114,393,078	V211A	probably benign	Het
Ush2a	A	G	1: 188,399,941	S787G	probably benign	Het
Vmn1r189	T	C	13: 22,102,119	M183V	probably damaging	Het
Vps13d	G	T	4: 145,178,212	Q115K	probably benign	Het
Zfp358	A	G	8: 3,495,493	D25G	probably damaging	Het
Zfp521	T	G	18: 13,844,590	K922T	probably damaging	Het
Zfp521	T	A	18: 13,844,591	K922*	probably null	Het
Zfp68	T	A	5: 138,616,481	K4*	probably null	Het

Other mutations in Cnr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Cnr1	APN	4	33944116	missense	probably damaging	1.00
IGL01408:Cnr1	APN	4	33944802	missense	possibly damaging	0.88
IGL02551:Cnr1	APN	4	33943686	missense	probably benign
Madness	UTSW	4	33944330	nonsense	probably null
R1730:Cnr1	UTSW	4	33943851	missense	possibly damaging	0.52
R1758:Cnr1	UTSW	4	33945000	missense	probably damaging	1.00
R2322:Cnr1	UTSW	4	33944514	missense	probably damaging	1.00
R5289:Cnr1	UTSW	4	33943910	nonsense	probably null
R5707:Cnr1	UTSW	4	33944330	nonsense	probably null
R6042:Cnr1	UTSW	4	33944751	missense	probably damaging	1.00
R6630:Cnr1	UTSW	4	33944659	missense	probably damaging	1.00
R6724:Cnr1	UTSW	4	33944728	missense	possibly damaging	0.70
R6916:Cnr1	UTSW	4	33943897	missense	probably benign
R6987:Cnr1	UTSW	4	33944739	missense	probably benign	0.00
R7410:Cnr1	UTSW	4	33944119	missense	probably damaging	1.00
R7721:Cnr1	UTSW	4	33944416	missense	probably damaging	1.00
R7723:Cnr1	UTSW	4	33944416	missense	probably damaging	1.00
R7769:Cnr1	UTSW	4	33944892	missense	probably benign
R8062:Cnr1	UTSW	4	33944707	missense	possibly damaging	0.95
R8701:Cnr1	UTSW	4	33944739	missense	probably benign	0.00
R9362:Cnr1	UTSW	4	33944038	missense	probably damaging	0.99
R9365:Cnr1	UTSW	4	33943798	missense	probably benign	0.06
R9410:Cnr1	UTSW	4	33944973	missense	possibly damaging	0.75
U24488:Cnr1	UTSW	4	33944927	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAACTGCAAGAAGCTGCAATC -3'
(R):5'- CAGCAGGCAGAGCATACTACAG -3'

Sequencing Primer
(F):5'- CTGCAAGAAGCTGCAATCTGTTTG -3'
(R):5'- GCAAACACCGTCTTGATAAGCTTG -3'

Posted On

2015-10-21