Incidental Mutation 'R2322:Cnr1'
| ID |
244771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnr1
|
| Ensembl Gene |
ENSMUSG00000044288 |
| Gene Name |
cannabinoid receptor 1 |
| Synonyms |
CB1, CB1R |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
R2322 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
33924593-33948831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33944514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 301
(K301E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057188]
[ENSMUST00000084736]
|
| AlphaFold |
P47746 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057188
AA Change: K301E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055797
Gene: ENSMUSG00000044288
AA Change: K301E
| 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 |
probably damaging
Transcript: ENSMUST00000084736
AA Change: K301E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081787
Gene: ENSMUSG00000044288
AA Change: K301E
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| AY358078 |
A |
G |
14: 52,042,147 (GRCm39) |
Y174C |
unknown |
Het |
| Bod1l |
A |
T |
5: 41,984,463 (GRCm39) |
V529E |
probably benign |
Het |
| Brinp3 |
A |
G |
1: 146,577,492 (GRCm39) |
T176A |
probably benign |
Het |
| Ccn2 |
T |
C |
10: 24,472,732 (GRCm39) |
M214T |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,467,922 (GRCm39) |
I272L |
probably benign |
Het |
| Elavl1 |
A |
T |
8: 4,339,802 (GRCm39) |
L260H |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,248,274 (GRCm39) |
Y275C |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,007,847 (GRCm39) |
S96P |
probably damaging |
Het |
| Hykk |
G |
A |
9: 54,853,418 (GRCm39) |
G247S |
probably benign |
Het |
| Ky |
T |
C |
9: 102,414,990 (GRCm39) |
|
probably null |
Het |
| Mcu |
A |
C |
10: 59,290,766 (GRCm39) |
|
probably null |
Het |
| Or2y17 |
T |
G |
11: 49,231,476 (GRCm39) |
L39R |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,118 (GRCm39) |
C104R |
possibly damaging |
Het |
| Ppp4r3a |
C |
T |
12: 101,008,878 (GRCm39) |
R667Q |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,301,473 (GRCm39) |
T220A |
probably benign |
Het |
| St18 |
T |
A |
1: 6,914,348 (GRCm39) |
C766* |
probably null |
Het |
| St8sia4 |
C |
T |
1: 95,581,463 (GRCm39) |
R93H |
probably damaging |
Het |
| Tcim |
G |
C |
8: 24,928,726 (GRCm39) |
R63G |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,217,813 (GRCm39) |
S488P |
possibly damaging |
Het |
| Zhx3 |
T |
C |
2: 160,623,948 (GRCm39) |
D73G |
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 |
|
IGL01408:Cnr1
|
APN |
4 |
33,944,802 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGAGGATCGTCACCAGGC -3'
(R):5'- ACCATGATCGCAAGCAGAG -3'
Sequencing Primer
(F):5'- GCTTGATGTGGACTATTGCAATAG -3'
(R):5'- AGGGCCCCAGCAGATGATC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation