Incidental Mutation 'R6630:Cnr1'
| ID |
525034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnr1
|
| Ensembl Gene |
ENSMUSG00000044288 |
| Gene Name |
cannabinoid receptor 1 |
| Synonyms |
CB1, CB1R |
| MMRRC Submission |
044752-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
R6630 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
33924593-33948831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33944659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 349
(I349N)
|
| 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: I349N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055797
Gene: ENSMUSG00000044288
AA Change: I349N
| 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: I349N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081787
Gene: ENSMUSG00000044288
AA Change: I349N
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,495,971 (GRCm39) |
T136A |
probably benign |
Het |
| Calb1 |
T |
A |
4: 15,885,637 (GRCm39) |
D69E |
probably benign |
Het |
| Cecr2 |
A |
T |
6: 120,739,139 (GRCm39) |
N1261Y |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,593 (GRCm39) |
N1234S |
probably damaging |
Het |
| Cenpo |
G |
A |
12: 4,267,236 (GRCm39) |
|
probably benign |
Het |
| Cep131 |
A |
G |
11: 119,964,641 (GRCm39) |
W272R |
probably damaging |
Het |
| Dcst1 |
A |
T |
3: 89,271,633 (GRCm39) |
I50K |
possibly damaging |
Het |
| Defa40 |
T |
A |
8: 21,739,904 (GRCm39) |
S43T |
probably damaging |
Het |
| Dhh |
C |
T |
15: 98,792,247 (GRCm39) |
V254M |
possibly damaging |
Het |
| Dhrs9 |
G |
T |
2: 69,228,067 (GRCm39) |
W227L |
possibly damaging |
Het |
| Heca |
G |
A |
10: 17,783,856 (GRCm39) |
R104* |
probably null |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Map1s |
T |
C |
8: 71,366,442 (GRCm39) |
V449A |
probably damaging |
Het |
| Mapk1 |
A |
G |
16: 16,844,249 (GRCm39) |
D7G |
probably damaging |
Het |
| Mapre3 |
G |
T |
5: 31,019,886 (GRCm39) |
V56F |
probably damaging |
Het |
| Mepce |
G |
A |
5: 137,783,183 (GRCm39) |
T381I |
probably benign |
Het |
| Mga |
T |
A |
2: 119,754,140 (GRCm39) |
V804E |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,179,458 (GRCm39) |
K157E |
probably benign |
Het |
| Or1e33 |
T |
A |
11: 73,738,702 (GRCm39) |
H83L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,723,752 (GRCm39) |
S303T |
probably damaging |
Het |
| Phc2 |
C |
A |
4: 128,617,423 (GRCm39) |
P483Q |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,016,035 (GRCm39) |
L39S |
probably damaging |
Het |
| Samsn1 |
G |
A |
16: 75,676,092 (GRCm39) |
A101V |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,122,906 (GRCm39) |
M3368K |
possibly damaging |
Het |
| Trbv3 |
T |
A |
6: 41,025,506 (GRCm39) |
I32K |
possibly damaging |
Het |
| Trpm3 |
A |
T |
19: 22,965,347 (GRCm39) |
N1614I |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,262,910 (GRCm39) |
R1234G |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,245,032 (GRCm39) |
S1291P |
possibly damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,584 (GRCm39) |
L8* |
probably null |
Het |
| Vmn2r24 |
T |
A |
6: 123,763,981 (GRCm39) |
I286N |
probably benign |
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 |
|
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'- TACCTGATGTTCTGGATCGGAG -3'
(R):5'- AAGCATGTCTCAGGTCCTTG -3'
Sequencing Primer
(F):5'- TTCTGGATCGGAGTCACCAG -3'
(R):5'- AGGTCCTTGCTCCTCAGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation