Incidental Mutation 'IGL01990:Cnr2'
ID182034
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: 0.064) question?
Stock #IGL01990
Quality Score
Status
Chromosome4
Chromosomal Location135895394-135920207 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 135916805 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 65 (R65C)
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 probably damaging
Transcript: ENSMUST00000068830
AA Change: R65C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069957
Gene: ENSMUSG00000062585
AA Change: R65C

DomainStartEndE-ValueType
Pfam:7tm_1 50 299 1.8e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097843
AA Change: R65C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095454
Gene: ENSMUSG00000062585
AA Change: R65C

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
Actl9 A G 17: 33,434,094 N376S probably benign Het
Adgrv1 T C 13: 81,556,996 D1565G probably damaging Het
Atf5 T G 7: 44,813,049 D217A probably damaging Het
Azgp1 T C 5: 137,989,735 W260R probably damaging Het
Col14a1 A G 15: 55,363,463 Y203C unknown Het
Colec11 A G 12: 28,594,986 Y170H probably benign Het
Exosc10 A G 4: 148,566,410 Q471R possibly damaging Het
Gal3st1 G T 11: 3,998,741 W316L probably damaging Het
Igfbp3 C A 11: 7,208,504 R253L probably damaging Het
Kcnb2 A T 1: 15,312,954 D168V probably benign Het
Khnyn T G 14: 55,887,588 I433S possibly damaging Het
Naaa T A 5: 92,268,063 T193S possibly damaging Het
Nsun7 G A 5: 66,261,073 D49N probably damaging Het
Pappa T C 4: 65,156,687 probably benign Het
Pfkfb2 A G 1: 130,705,370 probably benign Het
Pkd1l3 C T 8: 109,660,806 T1794I probably damaging Het
Prex2 A C 1: 11,123,233 probably benign Het
Slc2a7 T G 4: 150,154,684 I122S possibly damaging Het
Slc31a2 A G 4: 62,295,970 K53E probably benign Het
Slc35f4 C T 14: 49,304,169 probably null Het
Slc38a7 C T 8: 95,844,962 W213* probably null Het
Slc5a4b T C 10: 76,060,354 E589G probably benign Het
Syne2 A G 12: 76,054,933 N5407S probably damaging Het
Tgm2 A T 2: 158,124,131 D534E probably benign Het
Ugt1a7c A G 1: 88,095,602 Y161C probably damaging Het
Vmn2r114 A G 17: 23,310,381 M249T probably benign Het
Xkr9 A G 1: 13,700,979 I240V probably benign Het
Zfat A G 15: 68,224,817 L49P probably damaging Het
Zfhx2 G T 14: 55,073,590 P549H probably damaging Het
Zfp551 C T 7: 12,422,416 V25M possibly damaging Het
Other mutations in Cnr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02233:Cnr2 APN 4 135917211 missense possibly damaging 0.76
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
R8423:Cnr2 UTSW 4 135917516 missense probably damaging 1.00
Posted On2014-05-07