Incidental Mutation 'R1242:Cnr2'
ID 152037
Institutional Source Beutler Lab
Gene Symbol Cnr2
Ensembl Gene ENSMUSG00000062585
Gene Name cannabinoid receptor 2
Synonyms cannabinoid receptor 2 (spleen), CB2-R, CB2
MMRRC Submission 039309-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R1242 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 135622705-135647518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135644294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 124 (L124Q)
Ref Sequence ENSEMBL: ENSMUSP00000095454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030434] [ENSMUST00000068830] [ENSMUST00000097843]
AlphaFold P47936
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 probably damaging
Transcript: ENSMUST00000068830
AA Change: L124Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069957
Gene: ENSMUSG00000062585
AA Change: L124Q

DomainStartEndE-ValueType
Pfam:7tm_1 50 299 1.8e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097843
AA Change: L124Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095454
Gene: ENSMUSG00000062585
AA Change: L124Q

DomainStartEndE-ValueType
Pfam:7tm_1 50 299 8e-37 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs7 A G 3: 36,632,576 (GRCm39) F549L probably damaging Het
Cmc2 T C 8: 117,637,937 (GRCm39) D4G probably damaging Het
Cobll1 T C 2: 64,981,513 (GRCm39) probably null Het
Defb30 A T 14: 63,273,455 (GRCm39) Y53N probably damaging Het
Dtnb T A 12: 3,782,627 (GRCm39) Y363* probably null Het
Fam170a A G 18: 50,415,206 (GRCm39) E284G probably damaging Het
Gm16505 T A 13: 3,411,109 (GRCm39) noncoding transcript Het
Gtf2h1 T C 7: 46,462,175 (GRCm39) probably null Het
Gucy1a1 C T 3: 82,013,260 (GRCm39) probably null Het
Hfm1 T A 5: 107,022,767 (GRCm39) N945I probably damaging Het
Hpse2 G A 19: 42,955,416 (GRCm39) T327I probably benign Het
Il3 T C 11: 54,157,929 (GRCm39) I50V probably benign Het
Mgat5b A G 11: 116,869,230 (GRCm39) K591R probably benign Het
Nup214 C T 2: 31,867,782 (GRCm39) T83I probably benign Het
Or2v2 A T 11: 49,003,728 (GRCm39) V275E possibly damaging Het
Rp1 T A 1: 4,415,185 (GRCm39) I1976F probably benign Het
Sardh T A 2: 27,125,575 (GRCm39) D313V probably damaging Het
Tent5c A T 3: 100,380,192 (GRCm39) L188Q probably damaging Het
Vmn1r173 C T 7: 23,402,650 (GRCm39) P295L probably damaging Het
Vmn1r38 A C 6: 66,753,344 (GRCm39) Y257* probably null Het
Xkr4 T A 1: 3,286,360 (GRCm39) D610V probably damaging Het
Other mutations in Cnr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01990:Cnr2 APN 4 135,644,116 (GRCm39) missense probably damaging 1.00
IGL02233:Cnr2 APN 4 135,644,522 (GRCm39) missense possibly damaging 0.76
IGL02887:Cnr2 APN 4 135,644,936 (GRCm39) missense possibly damaging 0.90
PIT4791001:Cnr2 UTSW 4 135,644,263 (GRCm39) missense probably damaging 1.00
R0480:Cnr2 UTSW 4 135,644,912 (GRCm39) missense probably benign 0.00
R0616:Cnr2 UTSW 4 135,644,873 (GRCm39) missense probably benign 0.39
R0945:Cnr2 UTSW 4 135,644,632 (GRCm39) missense probably benign 0.16
R1538:Cnr2 UTSW 4 135,644,012 (GRCm39) missense probably benign 0.00
R4330:Cnr2 UTSW 4 135,644,237 (GRCm39) missense possibly damaging 0.56
R4911:Cnr2 UTSW 4 135,644,512 (GRCm39) missense possibly damaging 0.88
R4960:Cnr2 UTSW 4 135,644,918 (GRCm39) missense probably benign 0.01
R5289:Cnr2 UTSW 4 135,644,318 (GRCm39) missense probably damaging 1.00
R5642:Cnr2 UTSW 4 135,644,076 (GRCm39) missense probably damaging 1.00
R5681:Cnr2 UTSW 4 135,644,000 (GRCm39) missense probably damaging 0.99
R5807:Cnr2 UTSW 4 135,644,747 (GRCm39) missense probably benign 0.00
R6843:Cnr2 UTSW 4 135,644,900 (GRCm39) missense probably benign
R8024:Cnr2 UTSW 4 135,644,196 (GRCm39) missense probably damaging 1.00
R8423:Cnr2 UTSW 4 135,644,827 (GRCm39) missense probably damaging 1.00
R9330:Cnr2 UTSW 4 135,644,312 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTGGAGTTCAACCCCATGAAGGAG -3'
(R):5'- ATAGAAGCCAGCCCAGTAGGTAGTC -3'

Sequencing Primer
(F):5'- TACATGATCCTGAGCAGTGGC -3'
(R):5'- CAGCCCAGTAGGTAGTCGTTAG -3'
Posted On 2014-01-29