Incidental Mutation 'R9590:Cnr1'
| ID |
722957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnr1
|
| Ensembl Gene |
ENSMUSG00000044288 |
| Gene Name |
cannabinoid receptor 1 |
| Synonyms |
CB1, CB1R |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
R9590 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
33924593-33948831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33944849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 412
(M412I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057188]
[ENSMUST00000084736]
|
| AlphaFold |
P47746 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057188
AA Change: M412I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055797
Gene: ENSMUSG00000044288
AA Change: M412I
| 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 benign
Transcript: ENSMUST00000084736
AA Change: M412I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081787
Gene: ENSMUSG00000044288
AA Change: M412I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,876,506 (GRCm39) |
T1087A |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,208,923 (GRCm39) |
T347A |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,865,693 (GRCm39) |
L69* |
probably null |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| C130073F10Rik |
G |
A |
4: 101,747,618 (GRCm39) |
T137I |
probably benign |
Het |
| C9orf72 |
C |
T |
4: 35,218,557 (GRCm39) |
G101R |
|
Het |
| Cacna1a |
C |
T |
8: 85,328,610 (GRCm39) |
Q1683* |
probably null |
Het |
| Calml4 |
A |
G |
9: 62,782,810 (GRCm39) |
Y139C |
probably benign |
Het |
| Cd33 |
T |
A |
7: 43,179,637 (GRCm39) |
I264F |
probably benign |
Het |
| Cfi |
A |
T |
3: 129,642,461 (GRCm39) |
H105L |
probably benign |
Het |
| Cyp2j11 |
T |
A |
4: 96,195,614 (GRCm39) |
M361L |
probably benign |
Het |
| Dnase2b |
A |
T |
3: 146,290,323 (GRCm39) |
V216D |
probably benign |
Het |
| Eif1 |
C |
T |
11: 100,210,867 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
G |
A |
11: 120,269,545 (GRCm39) |
|
probably benign |
Het |
| Fkbp10 |
A |
T |
11: 100,306,785 (GRCm39) |
Q59L |
probably damaging |
Het |
| Galnt13 |
G |
T |
2: 54,747,973 (GRCm39) |
V285F |
probably benign |
Het |
| Gm32742 |
A |
G |
9: 51,050,461 (GRCm39) |
F1510S |
possibly damaging |
Het |
| Klhl33 |
T |
G |
14: 51,130,042 (GRCm39) |
D224A |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,784,060 (GRCm39) |
F607S |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,592,977 (GRCm39) |
N686S |
possibly damaging |
Het |
| Mlip |
A |
G |
9: 77,045,834 (GRCm39) |
M882T |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,790,834 (GRCm39) |
M74K |
probably benign |
Het |
| Nek10 |
C |
A |
14: 14,853,888 (GRCm38) |
S358Y |
probably damaging |
Het |
| Or51a7 |
T |
C |
7: 102,614,553 (GRCm39) |
L82P |
probably benign |
Het |
| Or5b12b |
T |
C |
19: 12,861,980 (GRCm39) |
V245A |
probably benign |
Het |
| Or8g29-ps1 |
A |
T |
9: 39,201,076 (GRCm39) |
C37S |
unknown |
Het |
| Padi1 |
T |
C |
4: 140,544,552 (GRCm39) |
D547G |
probably damaging |
Het |
| Pcbp4 |
T |
C |
9: 106,340,400 (GRCm39) |
S332P |
possibly damaging |
Het |
| Pde2a |
A |
G |
7: 101,160,757 (GRCm39) |
I909V |
probably benign |
Het |
| Ppil6 |
T |
C |
10: 41,366,478 (GRCm39) |
M1T |
probably null |
Het |
| Proser2 |
A |
G |
2: 6,105,794 (GRCm39) |
S257P |
probably benign |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,328 (GRCm39) |
F1797L |
probably benign |
Het |
| Sfmbt1 |
T |
C |
14: 30,512,727 (GRCm39) |
L360P |
probably damaging |
Het |
| Tab1 |
A |
T |
15: 80,040,097 (GRCm39) |
N306Y |
probably damaging |
Het |
| Tob2 |
A |
C |
15: 81,735,068 (GRCm39) |
F300L |
possibly 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 |
|
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 |
|
U24488:Cnr1
|
UTSW |
4 |
33,944,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCTGGTTCTGATCCTGG -3'
(R):5'- TTCTGGGCAGCCACAAAAGC -3'
Sequencing Primer
(F):5'- ATCCTGGTGGTGTTGATCATC -3'
(R):5'- TCACAGAGCCTCGGCAGAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation