Incidental Mutation 'IGL00423:Cnr1'
ID6696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnr1
Ensembl Gene ENSMUSG00000044288
Gene Namecannabinoid receptor 1 (brain)
SynonymsCB1R, CB1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.175) question?
Stock #IGL00423
Quality Score
Status
Chromosome4
Chromosomal Location33924593-33948831 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 33944116 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 168 (S168N)
Ref Sequence ENSEMBL: ENSMUSP00000081787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057188] [ENSMUST00000084736]
Predicted Effect probably damaging
Transcript: ENSMUST00000057188
AA Change: S168N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055797
Gene: ENSMUSG00000044288
AA Change: S168N

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000084736
AA Change: S168N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081787
Gene: ENSMUSG00000044288
AA Change: S168N

DomainStartEndE-ValueType
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
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik G A 14: 8,473,370 P600S possibly damaging Het
Acan A G 7: 79,097,824 E781G probably benign Het
Acp7 T C 7: 28,614,697 T358A possibly damaging Het
Adamtsl2 C A 2: 27,085,088 T199K probably damaging Het
Ap4e1 T A 2: 127,028,289 S179T probably damaging Het
BC048671 A G 6: 90,303,218 T39A probably benign Het
Cp T C 3: 19,985,662 V881A possibly damaging Het
Cyp4x1 T C 4: 115,121,948 T151A probably benign Het
Drd2 T C 9: 49,395,758 I48T probably damaging Het
Gemin5 A T 11: 58,163,817 I253N probably damaging Het
Herc3 T A 6: 58,868,715 I407K probably damaging Het
Ighmbp2 G T 19: 3,268,704 H457Q probably benign Het
Mboat1 A G 13: 30,195,793 probably benign Het
Myh2 T C 11: 67,197,345 V1929A probably benign Het
Nucb2 T A 7: 116,521,831 probably benign Het
Pcsk5 T C 19: 17,642,559 N383S probably benign Het
Pde1a A G 2: 79,865,670 L443P probably damaging Het
Prph2 A T 17: 46,919,778 N199I probably damaging Het
Rab27b A G 18: 69,996,067 probably null Het
Ranbp3 G A 17: 56,709,238 D336N probably damaging Het
Rangap1 T C 15: 81,721,993 D49G probably benign Het
Rasa3 G A 8: 13,595,410 probably benign Het
Serpina6 T A 12: 103,651,903 N217I probably damaging Het
Sorbs2 A G 8: 45,799,706 probably null Het
Spire1 A G 18: 67,529,015 V116A probably damaging Het
Tdrd1 T C 19: 56,851,464 V652A possibly damaging Het
Tmprss11g T C 5: 86,492,191 E193G probably benign Het
Zfp451 A T 1: 33,777,579 V213D probably benign Het
Other mutations in Cnr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4688:Cnr1 UTSW 4 33944571 missense probably benign 0.38
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
U24488:Cnr1 UTSW 4 33944927 missense probably benign 0.00
Posted On2012-04-20