Incidental Mutation 'IGL01408:Cnr1'
| ID |
79877 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnr1
|
| Ensembl Gene |
ENSMUSG00000044288 |
| Gene Name |
cannabinoid receptor 1 |
| Synonyms |
CB1, CB1R |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
IGL01408
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
33924593-33948831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33944802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 397
(I397V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057188]
[ENSMUST00000084736]
|
| AlphaFold |
P47746 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057188
AA Change: I397V
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000055797
Gene: ENSMUSG00000044288
AA Change: I397V
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000084736
AA Change: I397V
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000081787
Gene: ENSMUSG00000044288
AA Change: I397V
| Domain | Start | End | E-Value | Type |
|---|
|
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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530068E07Rik |
A |
G |
11: 52,294,193 (GRCm39) |
R145G |
probably damaging |
Het |
| Akr1c21 |
T |
A |
13: 4,627,431 (GRCm39) |
M175K |
probably benign |
Het |
| Apol7a |
C |
T |
15: 77,273,530 (GRCm39) |
A311T |
probably damaging |
Het |
| Atxn10 |
G |
T |
15: 85,260,896 (GRCm39) |
E214* |
probably null |
Het |
| Bmp2k |
C |
T |
5: 97,234,823 (GRCm39) |
Q749* |
probably null |
Het |
| Ccdc141 |
G |
A |
2: 76,876,023 (GRCm39) |
A669V |
probably benign |
Het |
| Cndp2 |
A |
C |
18: 84,689,036 (GRCm39) |
C249G |
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,345,331 (GRCm39) |
|
probably benign |
Het |
| Dbn1 |
T |
C |
13: 55,630,117 (GRCm39) |
|
probably benign |
Het |
| Dmgdh |
C |
T |
13: 93,845,803 (GRCm39) |
P486S |
probably damaging |
Het |
| Dpys |
A |
G |
15: 39,656,702 (GRCm39) |
V455A |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,546,702 (GRCm39) |
N907S |
probably benign |
Het |
| Fndc3c1 |
C |
T |
X: 105,476,378 (GRCm39) |
E894K |
probably benign |
Het |
| Gm6685 |
A |
T |
11: 28,289,473 (GRCm39) |
N114K |
probably damaging |
Het |
| Golga3 |
A |
T |
5: 110,365,675 (GRCm39) |
|
probably null |
Het |
| Grin2c |
A |
G |
11: 115,151,708 (GRCm39) |
L84P |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,675,009 (GRCm39) |
F1001L |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,767,169 (GRCm39) |
H910R |
unknown |
Het |
| Kdm4b |
T |
C |
17: 56,660,518 (GRCm39) |
|
probably benign |
Het |
| Lrrfip2 |
A |
G |
9: 111,043,284 (GRCm39) |
T497A |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,048,884 (GRCm39) |
Y924C |
probably damaging |
Het |
| Nkain2 |
T |
A |
10: 32,278,237 (GRCm39) |
T63S |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,013,742 (GRCm39) |
T503S |
probably benign |
Het |
| Or52n3 |
T |
C |
7: 104,530,037 (GRCm39) |
V41A |
probably benign |
Het |
| Or52n4 |
T |
A |
7: 104,294,136 (GRCm39) |
I146F |
possibly damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,623,078 (GRCm39) |
C780S |
probably damaging |
Het |
| Plekha5 |
C |
T |
6: 140,516,042 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
C |
T |
2: 72,005,185 (GRCm39) |
R193* |
probably null |
Het |
| Rbm20 |
A |
G |
19: 53,840,044 (GRCm39) |
E1011G |
possibly damaging |
Het |
| Rfx3 |
A |
T |
19: 27,746,050 (GRCm39) |
D685E |
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,190,984 (GRCm39) |
S114P |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,318,863 (GRCm39) |
K502E |
probably benign |
Het |
| Spink2 |
A |
T |
5: 77,359,174 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
T |
12: 76,659,921 (GRCm39) |
I993N |
possibly damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Tes |
A |
T |
6: 17,099,878 (GRCm39) |
Y291F |
probably damaging |
Het |
| Tmtc4 |
G |
T |
14: 123,163,366 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,959,637 (GRCm39) |
E683G |
probably benign |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,455 (GRCm39) |
D171G |
probably benign |
Het |
| Wbp11 |
A |
G |
6: 136,791,612 (GRCm39) |
|
probably benign |
Het |
| Wfdc12 |
A |
G |
2: 164,031,581 (GRCm39) |
*86R |
probably null |
Het |
| Zfp281 |
T |
C |
1: 136,553,853 (GRCm39) |
V277A |
probably damaging |
Het |
|
| Other mutations in Cnr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Cnr1
|
APN |
4 |
33,944,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02551:Cnr1
|
APN |
4 |
33,943,686 (GRCm39) |
missense |
probably benign |
|
|
Attentive
|
UTSW |
4 |
33,944,038 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Madness
|
UTSW |
4 |
33,944,330 (GRCm39) |
nonsense |
probably null |
|
|
sober
|
UTSW |
4 |
33,944,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Cnr1
|
UTSW |
4 |
33,943,851 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1758:Cnr1
|
UTSW |
4 |
33,945,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2322:Cnr1
|
UTSW |
4 |
33,944,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4688:Cnr1
|
UTSW |
4 |
33,944,571 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5289:Cnr1
|
UTSW |
4 |
33,943,910 (GRCm39) |
nonsense |
probably null |
|
|
R5707:Cnr1
|
UTSW |
4 |
33,944,330 (GRCm39) |
nonsense |
probably null |
|
|
R6042:Cnr1
|
UTSW |
4 |
33,944,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6630:Cnr1
|
UTSW |
4 |
33,944,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6724:Cnr1
|
UTSW |
4 |
33,944,728 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6916:Cnr1
|
UTSW |
4 |
33,943,897 (GRCm39) |
missense |
probably benign |
|
|
R6987:Cnr1
|
UTSW |
4 |
33,944,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7410:Cnr1
|
UTSW |
4 |
33,944,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7721:Cnr1
|
UTSW |
4 |
33,944,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7723:Cnr1
|
UTSW |
4 |
33,944,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7769:Cnr1
|
UTSW |
4 |
33,944,892 (GRCm39) |
missense |
probably benign |
|
|
R8062:Cnr1
|
UTSW |
4 |
33,944,707 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8701:Cnr1
|
UTSW |
4 |
33,944,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9362:Cnr1
|
UTSW |
4 |
33,944,038 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9365:Cnr1
|
UTSW |
4 |
33,943,798 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9410:Cnr1
|
UTSW |
4 |
33,944,973 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9590:Cnr1
|
UTSW |
4 |
33,944,849 (GRCm39) |
missense |
probably benign |
|
|
U24488:Cnr1
|
UTSW |
4 |
33,944,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation