Incidental Mutation 'IGL01990:Cnr2'
| ID |
182034 |
| 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: 0.089)
|
| Stock # |
IGL01990
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
135622705-135647518 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 135644116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| 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 |
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| 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 |
|---|
| Actl9 |
A |
G |
17: 33,653,068 (GRCm39) |
N376S |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,705,115 (GRCm39) |
D1565G |
probably damaging |
Het |
| Atf5 |
T |
G |
7: 44,462,473 (GRCm39) |
D217A |
probably damaging |
Het |
| Azgp1 |
T |
C |
5: 137,987,997 (GRCm39) |
W260R |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,226,859 (GRCm39) |
Y203C |
unknown |
Het |
| Colec11 |
A |
G |
12: 28,644,985 (GRCm39) |
Y170H |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,650,867 (GRCm39) |
Q471R |
possibly damaging |
Het |
| Gal3st1 |
G |
T |
11: 3,948,741 (GRCm39) |
W316L |
probably damaging |
Het |
| Igfbp3 |
C |
A |
11: 7,158,504 (GRCm39) |
R253L |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,383,178 (GRCm39) |
D168V |
probably benign |
Het |
| Khnyn |
T |
G |
14: 56,125,045 (GRCm39) |
I433S |
possibly damaging |
Het |
| Naaa |
T |
A |
5: 92,415,922 (GRCm39) |
T193S |
possibly damaging |
Het |
| Nsun7 |
G |
A |
5: 66,418,416 (GRCm39) |
D49N |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,074,924 (GRCm39) |
|
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,633,107 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
C |
T |
8: 110,387,438 (GRCm39) |
T1794I |
probably damaging |
Het |
| Prex2 |
A |
C |
1: 11,193,457 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
T |
G |
4: 150,239,141 (GRCm39) |
I122S |
possibly damaging |
Het |
| Slc31a2 |
A |
G |
4: 62,214,207 (GRCm39) |
K53E |
probably benign |
Het |
| Slc35f4 |
C |
T |
14: 49,541,626 (GRCm39) |
|
probably null |
Het |
| Slc38a7 |
C |
T |
8: 96,571,590 (GRCm39) |
W213* |
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,896,188 (GRCm39) |
E589G |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,101,707 (GRCm39) |
N5407S |
probably damaging |
Het |
| Tgm2 |
A |
T |
2: 157,966,051 (GRCm39) |
D534E |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,324 (GRCm39) |
Y161C |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,529,355 (GRCm39) |
M249T |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,203 (GRCm39) |
I240V |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,096,666 (GRCm39) |
L49P |
probably damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,311,047 (GRCm39) |
P549H |
probably damaging |
Het |
| Zfp551 |
C |
T |
7: 12,156,343 (GRCm39) |
V25M |
possibly damaging |
Het |
|
| Other mutations in Cnr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation