Incidental Mutation 'R7721:Cnr1'
ID595212
Institutional Source Beutler Lab
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: 0.227) question?
Stock #R7721 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location33924593-33948831 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 33944416 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 268 (I268N)
Ref Sequence ENSEMBL: ENSMUSP00000055797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057188] [ENSMUST00000084736]
Predicted Effect probably damaging
Transcript: ENSMUST00000057188
AA Change: I268N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055797
Gene: ENSMUSG00000044288
AA Change: I268N

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: I268N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081787
Gene: ENSMUSG00000044288
AA Change: I268N

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130213A22Rik T A 11: 69,121,526 T9S unknown Het
A630095E13Rik C T 9: 36,637,863 G34R possibly damaging Het
Adamtsl3 T G 7: 82,606,520 M1580R possibly damaging Het
Alg9 T C 9: 50,776,642 I78T probably damaging Het
Ankrd11 G T 8: 122,894,759 L785M probably damaging Het
Atrnl1 T A 19: 57,696,331 D796E probably benign Het
C1s2 A G 6: 124,630,058 V277A possibly damaging Het
Cldn15 A G 5: 136,968,161 M19V probably benign Het
Cldn23 T G 8: 35,826,263 S24R possibly damaging Het
Csf2ra A T 19: 61,226,586 W147R probably damaging Het
Ctsb G T 14: 63,133,316 probably benign Het
D430041D05Rik A G 2: 104,258,529 M34T probably benign Het
Dmtf1 T C 5: 9,126,564 I463V probably damaging Het
Dnah7a T A 1: 53,631,683 D470V probably benign Het
Dtx4 A G 19: 12,482,136 S435P probably benign Het
Ear2 T A 14: 44,103,038 M51K probably damaging Het
Faf1 T A 4: 109,736,597 I124N probably damaging Het
Gkap1 A C 13: 58,236,985 probably null Het
Glipr2 T C 4: 43,957,770 S4P probably benign Het
Gm11639 T A 11: 104,724,540 L711* probably null Het
Gm38119 A T 3: 92,738,030 C86S unknown Het
Gm6583 A G 5: 112,355,517 I107T probably benign Het
Gpr171 T G 3: 59,097,899 I152L probably benign Het
Homer3 T C 8: 70,291,012 V180A probably benign Het
Irx1 T A 13: 71,960,057 M169L probably benign Het
Kap A G 6: 133,851,727 probably null Het
Lyzl4 GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAAGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG 9: 121,583,989 probably null Het
Mgat5b A G 11: 116,966,801 M2V Het
Mob4 C T 1: 55,148,320 Q76* probably null Het
Olfr1493-ps1 T A 19: 13,726,843 I194N possibly damaging Het
Olfr911-ps1 A T 9: 38,523,717 probably null Het
Olfr943 A G 9: 39,184,760 D191G probably benign Het
Pcdha9 A T 18: 36,999,636 Q586L probably benign Het
Pgk2 T A 17: 40,207,518 I340F probably benign Het
Prex1 G A 2: 166,577,890 Q1289* probably null Het
Prr22 A G 17: 56,771,819 D324G possibly damaging Het
Rab2b A T 14: 52,263,760 S201T probably benign Het
Rdh1 T A 10: 127,760,252 probably null Het
Rhbdl1 G T 17: 25,836,149 N82K probably benign Het
Rspo1 C A 4: 124,991,417 Q29K possibly damaging Het
Rtp3 A T 9: 110,985,880 Y472* probably null Het
Senp5 T A 16: 31,990,434 M1L unknown Het
Stab1 A G 14: 31,141,456 V2091A possibly damaging Het
Stk32c A G 7: 139,188,153 S71P possibly damaging Het
Tpr A G 1: 150,444,429 T2243A probably benign Het
Tubgcp6 A T 15: 89,101,401 N1544K probably damaging Het
Uqcc1 T C 2: 155,858,146 N202S probably benign Het
Vmn2r18 C T 5: 151,586,693 E72K possibly damaging Het
Zfp654 C A 16: 64,786,207 C3F probably damaging Het
Zfp804b T C 5: 6,771,263 E600G possibly damaging Het
Other mutations in Cnr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- CGGCCATCGACAGGTACATATC -3'
(R):5'- TTTGGCCAGCCTAATGTCCATG -3'

Sequencing Primer
(F):5'- TCGACAGGTACATATCCATTCACAGG -3'
(R):5'- CCTAATGTCCATGCGGGCTTG -3'
Posted On2019-11-12