Incidental Mutation 'IGL00423:Cnr1'
| ID |
6696 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnr1
|
| Ensembl Gene |
ENSMUSG00000044288 |
| Gene Name |
cannabinoid receptor 1 |
| Synonyms |
CB1, CB1R |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
IGL00423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
33924593-33948831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33944116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 168
(S168N)
|
| 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: S168N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055797
Gene: ENSMUSG00000044288
AA Change: S168N
| 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: S168N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081787
Gene: ENSMUSG00000044288
AA Change: S168N
| 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 |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,747,572 (GRCm39) |
E781G |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,314,122 (GRCm39) |
T358A |
possibly damaging |
Het |
| Adamtsl2 |
C |
A |
2: 26,975,100 (GRCm39) |
T199K |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,870,209 (GRCm39) |
S179T |
probably damaging |
Het |
| BC048671 |
A |
G |
6: 90,280,200 (GRCm39) |
T39A |
probably benign |
Het |
| Cfap20dc |
G |
A |
14: 8,473,370 (GRCm38) |
P600S |
possibly damaging |
Het |
| Cp |
T |
C |
3: 20,039,826 (GRCm39) |
V881A |
possibly damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,979,145 (GRCm39) |
T151A |
probably benign |
Het |
| Drd2 |
T |
C |
9: 49,307,058 (GRCm39) |
I48T |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,054,643 (GRCm39) |
I253N |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,845,700 (GRCm39) |
I407K |
probably damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,318,704 (GRCm39) |
H457Q |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,379,776 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
| Nucb2 |
T |
A |
7: 116,121,066 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,619,923 (GRCm39) |
N383S |
probably benign |
Het |
| Pde1a |
A |
G |
2: 79,696,014 (GRCm39) |
L443P |
probably damaging |
Het |
| Prph2 |
A |
T |
17: 47,230,704 (GRCm39) |
N199I |
probably damaging |
Het |
| Rab27b |
A |
G |
18: 70,129,138 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
G |
A |
17: 57,016,238 (GRCm39) |
D336N |
probably damaging |
Het |
| Rangap1 |
T |
C |
15: 81,606,194 (GRCm39) |
D49G |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,645,410 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
T |
A |
12: 103,618,162 (GRCm39) |
N217I |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,252,743 (GRCm39) |
|
probably null |
Het |
| Spire1 |
A |
G |
18: 67,662,085 (GRCm39) |
V116A |
probably damaging |
Het |
| Tdrd1 |
T |
C |
19: 56,839,896 (GRCm39) |
V652A |
possibly damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,640,050 (GRCm39) |
E193G |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,660 (GRCm39) |
V213D |
probably benign |
Het |
|
| Other mutations in Cnr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R9590:Cnr1
|
UTSW |
4 |
33,944,849 (GRCm39) |
missense |
probably benign |
|
|
U24488:Cnr1
|
UTSW |
4 |
33,944,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation