Incidental Mutation 'IGL02233:Cnr2'
ID285803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnr2
Ensembl Gene ENSMUSG00000062585
Gene Namecannabinoid receptor 2 (macrophage)
Synonymscannabinoid receptor 2 (spleen), CB2, CB2-R
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL02233
Quality Score
Status
Chromosome4
Chromosomal Location135895394-135920207 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 135917211 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 200 (I200N)
Ref Sequence ENSEMBL: ENSMUSP00000095454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030434] [ENSMUST00000068830] [ENSMUST00000097843]
Predicted Effect probably benign
Transcript: ENSMUST00000030434
SMART Domains Protein: ENSMUSP00000030434
Gene: ENSMUSG00000028673

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Alpha_L_fucos 22 399 7.97e-234 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000068830
AA Change: I200N

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069957
Gene: ENSMUSG00000062585
AA Change: I200N

DomainStartEndE-ValueType
Pfam:7tm_1 50 299 1.8e-44 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097843
AA Change: I200N

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095454
Gene: ENSMUSG00000062585
AA Change: I200N

DomainStartEndE-ValueType
Pfam:7tm_1 50 299 8e-37 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ingredient of marijuana. The proteins encoded by this gene and the cannabinoid receptor 1 (brain) (CNR1) gene have the characteristics of a guanine nucleotide-binding protein (G-protein)-coupled receptor for cannabinoids. They inhibit adenylate cyclase activity in a dose-dependent, stereoselective, and pertussis toxin-sensitive manner. These proteins have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. The cannabinoid receptors are members of family 1 of the G-protein-coupled receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Macrophages from homozygous mutant animals are resistant to the inhibitory effects of delta9-Tetrahydrocannabinol. Alopecia is seen in some but not all homozygotes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,274,344 Q1581* probably null Het
Abcc10 A T 17: 46,324,159 probably null Het
Adam25 A G 8: 40,755,386 Y563C probably damaging Het
Col5a2 T C 1: 45,383,587 probably null Het
Cpa2 T C 6: 30,557,667 probably benign Het
Dis3l2 T C 1: 86,990,231 V534A probably damaging Het
Dlg2 A T 7: 92,444,538 D845V probably damaging Het
Dnah8 T C 17: 30,706,513 probably null Het
Ephb4 T A 5: 137,354,501 Y115* probably null Het
Evc2 A G 5: 37,378,337 Y452C probably damaging Het
Fbn1 A G 2: 125,321,610 probably benign Het
Gm5134 A T 10: 76,008,500 probably null Het
Gpr157 A G 4: 150,101,727 T249A possibly damaging Het
Hoxc6 A G 15: 103,009,876 T91A probably benign Het
Lin9 C A 1: 180,689,300 A535E probably damaging Het
Muc1 G A 3: 89,231,628 V515I probably benign Het
Mup3 A G 4: 62,084,779 I170T probably damaging Het
Myo1e T C 9: 70,383,799 probably benign Het
Olfr411 A G 11: 74,347,428 V52A possibly damaging Het
Olfr914 A G 9: 38,607,242 Y259C probably damaging Het
Pde4d T C 13: 109,740,550 S202P probably damaging Het
Pomt2 A G 12: 87,111,411 V676A probably benign Het
Rasl10a C A 11: 5,058,333 L10M probably damaging Het
Rilp T C 11: 75,512,712 Y327H probably damaging Het
Sec23ip A G 7: 128,779,179 S957G probably damaging Het
Srbd1 T C 17: 86,098,622 probably null Het
Thsd7a T C 6: 12,555,258 H209R probably benign Het
Trav14-3 T C 14: 53,763,186 probably benign Het
Vipr2 A G 12: 116,094,736 N91S probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Cnr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01990:Cnr2 APN 4 135916805 missense probably damaging 1.00
IGL02887:Cnr2 APN 4 135917625 missense possibly damaging 0.90
PIT4791001:Cnr2 UTSW 4 135916952 missense probably damaging 1.00
R0480:Cnr2 UTSW 4 135917601 missense probably benign 0.00
R0616:Cnr2 UTSW 4 135917562 missense probably benign 0.39
R0945:Cnr2 UTSW 4 135917321 missense probably benign 0.16
R1242:Cnr2 UTSW 4 135916983 missense probably damaging 1.00
R1538:Cnr2 UTSW 4 135916701 missense probably benign 0.00
R4330:Cnr2 UTSW 4 135916926 missense possibly damaging 0.56
R4911:Cnr2 UTSW 4 135917201 missense possibly damaging 0.88
R4960:Cnr2 UTSW 4 135917607 missense probably benign 0.01
R5289:Cnr2 UTSW 4 135917007 missense probably damaging 1.00
R5642:Cnr2 UTSW 4 135916765 missense probably damaging 1.00
R5681:Cnr2 UTSW 4 135916689 missense probably damaging 0.99
R5807:Cnr2 UTSW 4 135917436 missense probably benign 0.00
R6843:Cnr2 UTSW 4 135917589 missense probably benign
R8024:Cnr2 UTSW 4 135916885 missense probably damaging 1.00
Posted On2015-04-16