Incidental Mutation 'IGL02233:Cnr2'
| ID |
285803 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnr2
|
| Ensembl Gene |
ENSMUSG00000062585 |
| Gene Name |
cannabinoid receptor 2 |
| Synonyms |
cannabinoid receptor 2 (spleen), CB2-R, CB2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
135622705-135647518 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135644522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
P47936 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030434
|
| SMART Domains |
Protein: ENSMUSP00000030434
Gene: ENSMUSG00000028673
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,165,170 (GRCm39) |
Q1581* |
probably null |
Het |
| Abcc10 |
A |
T |
17: 46,635,085 (GRCm39) |
|
probably null |
Het |
| Adam25 |
A |
G |
8: 41,208,423 (GRCm39) |
Y563C |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,422,747 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
T |
C |
6: 30,557,666 (GRCm39) |
|
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,917,953 (GRCm39) |
V534A |
probably damaging |
Het |
| Dlg2 |
A |
T |
7: 92,093,746 (GRCm39) |
D845V |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,925,487 (GRCm39) |
|
probably null |
Het |
| Ephb4 |
T |
A |
5: 137,352,763 (GRCm39) |
Y115* |
probably null |
Het |
| Evc2 |
A |
G |
5: 37,535,681 (GRCm39) |
Y452C |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,163,530 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
A |
T |
10: 75,844,334 (GRCm39) |
|
probably null |
Het |
| Gpr157 |
A |
G |
4: 150,186,184 (GRCm39) |
T249A |
possibly damaging |
Het |
| Hoxc6 |
A |
G |
15: 102,918,308 (GRCm39) |
T91A |
probably benign |
Het |
| Lin9 |
C |
A |
1: 180,516,865 (GRCm39) |
A535E |
probably damaging |
Het |
| Muc1 |
G |
A |
3: 89,138,935 (GRCm39) |
V515I |
probably benign |
Het |
| Mup3 |
A |
G |
4: 62,003,016 (GRCm39) |
I170T |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,291,081 (GRCm39) |
|
probably benign |
Het |
| Or3a1d |
A |
G |
11: 74,238,254 (GRCm39) |
V52A |
possibly damaging |
Het |
| Or8b50 |
A |
G |
9: 38,518,538 (GRCm39) |
Y259C |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 109,877,084 (GRCm39) |
S202P |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,158,185 (GRCm39) |
V676A |
probably benign |
Het |
| Rasl10a |
C |
A |
11: 5,008,333 (GRCm39) |
L10M |
probably damaging |
Het |
| Rilp |
T |
C |
11: 75,403,538 (GRCm39) |
Y327H |
probably damaging |
Het |
| Sec23ip |
A |
G |
7: 128,380,903 (GRCm39) |
S957G |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,406,050 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
T |
C |
6: 12,555,257 (GRCm39) |
H209R |
probably benign |
Het |
| Trav14-3 |
T |
C |
14: 54,000,643 (GRCm39) |
|
probably benign |
Het |
| Vipr2 |
A |
G |
12: 116,058,356 (GRCm39) |
N91S |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Cnr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01990:Cnr2
|
APN |
4 |
135,644,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
R1242:Cnr2
|
UTSW |
4 |
135,644,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation