Mutagenetix > Incidental Mutation

Incidental Mutation 'R9330:Cnr2'

706782

Institutional Source

Beutler Lab

Gene Symbol

Cnr2

Ensembl Gene

ENSMUSG00000062585

Gene Name

cannabinoid receptor 2

Synonyms

cannabinoid receptor 2 (spleen), CB2-R, CB2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R9330 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135622705-135647518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135644312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 130 (D130G)

Ref Sequence

ENSEMBL: ENSMUSP00000069957 (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: D130G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069957
Gene: ENSMUSG00000062585
AA Change: D130G

Domain	Start	End	E-Value	Type
Pfam:7tm_1	50	299	1.8e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000097843
AA Change: D130G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095454
Gene: ENSMUSG00000062585
AA Change: D130G

Domain	Start	End	E-Value	Type
Pfam:7tm_1	50	299	8e-37	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,330,833 (GRCm39)	D1127V	probably benign	Het
Ajap1	A	G	4: 153,516,961 (GRCm39)	S127P	probably damaging	Het
Cdon	T	A	9: 35,400,275 (GRCm39)	Y996*	probably null	Het
Cyp2j12	A	G	4: 95,994,791 (GRCm39)	V344A	probably damaging	Het
Cyp4a32	T	A	4: 115,478,635 (GRCm39)	C456S	probably damaging	Het
Dipk1a	A	T	5: 108,059,583 (GRCm39)	D123E	probably benign	Het
Dsc1	T	A	18: 20,243,214 (GRCm39)	T80S	possibly damaging	Het
Esyt2	G	A	12: 116,305,765 (GRCm39)	V332I	probably benign	Het
Fcgbpl1	C	T	7: 27,856,410 (GRCm39)	H2066Y	probably benign	Het
G2e3	C	T	12: 51,403,928 (GRCm39)	Q161*	probably null	Het
Galnt18	C	A	7: 111,071,271 (GRCm39)	R566L	probably benign	Het
Gatb	C	T	3: 85,559,801 (GRCm39)	P542S	probably benign	Het
Gpt	G	A	15: 76,581,215 (GRCm39)	R53H	possibly damaging	Het
Herpud2	T	C	9: 25,036,246 (GRCm39)	E138G	probably damaging	Het
Hivep1	A	G	13: 42,317,713 (GRCm39)	Y2063C	probably damaging	Het
Hoxd12	T	A	2: 74,505,733 (GRCm39)	Y101*	probably null	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Lama4	T	C	10: 38,954,722 (GRCm39)	F1092L	probably damaging	Het
Lrp1b	A	G	2: 41,012,993 (GRCm39)	S1985P		Het
Malrd1	C	T	2: 16,260,089 (GRCm39)	P2103L	unknown	Het
Mbnl1	C	A	3: 60,511,168 (GRCm39)	N41K	possibly damaging	Het
Muc16	T	C	9: 18,552,332 (GRCm39)	N4654D	probably benign	Het
Mug1	A	G	6: 121,859,723 (GRCm39)	T1241A	probably benign	Het
Ncam1	T	C	9: 49,456,097 (GRCm39)	D507G	probably benign	Het
Nfxl1	A	T	5: 72,681,451 (GRCm39)	D693E	probably benign	Het
Npr1	A	T	3: 90,365,979 (GRCm39)	I604N	possibly damaging	Het
Obscn	G	A	11: 58,971,047 (GRCm39)	H2280Y	possibly damaging	Het
Or5b105	T	A	19: 13,080,588 (GRCm39)	I27F	probably benign	Het
Or7c70	T	C	10: 78,683,153 (GRCm39)	T199A	probably benign	Het
Pcdh10	T	C	3: 45,335,618 (GRCm39)	V644A	probably damaging	Het
Pgk2	T	A	17: 40,519,078 (GRCm39)	I117F	probably benign	Het
Pinx1	T	A	14: 64,109,777 (GRCm39)	S110T	probably benign	Het
Pira1	A	T	7: 3,742,234 (GRCm39)	C98S	probably damaging	Het
Psmd1	A	G	1: 86,061,490 (GRCm39)	Y900C	probably damaging	Het
Rab3a	C	T	8: 71,209,881 (GRCm39)	R149C	probably damaging	Het
Samsn1	T	A	16: 75,673,433 (GRCm39)	N148Y	probably damaging	Het
Sin3a	C	T	9: 57,032,481 (GRCm39)	R1142C	probably damaging	Het
Snrnp27	A	G	6: 86,653,184 (GRCm39)	C145R	probably benign	Het
Sorl1	A	C	9: 41,979,229 (GRCm39)	V423G	probably damaging	Het
Sptlc3	G	T	2: 139,388,423 (GRCm39)	M138I	probably benign	Het
Tex15	T	A	8: 34,065,143 (GRCm39)	F1524L	probably benign	Het
Tln2	T	C	9: 67,229,213 (GRCm39)	N113D	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnfsf14	T	A	17: 57,501,020 (GRCm39)	D17V	probably damaging	Het
Trmt44	T	C	5: 35,727,264 (GRCm39)	D317G	probably damaging	Het
Trpc2	T	C	7: 101,739,764 (GRCm39)	F563L	probably benign	Het
Ubox5	T	C	2: 130,442,165 (GRCm39)	K174R	probably benign	Het
Vrk3	T	C	7: 44,424,910 (GRCm39)	S442P	probably damaging	Het
Wdr64	A	T	1: 175,554,024 (GRCm39)	T185S	possibly damaging	Het
Wfdc15a	A	T	2: 164,041,632 (GRCm39)	C64S	probably damaging	Het
Zfp688	A	G	7: 127,021,077 (GRCm39)	Y34H	probably damaging	Het
Zfp808	A	T	13: 62,319,974 (GRCm39)	H401L	probably benign	Het

Other mutations in Cnr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01990:Cnr2	APN	4	135,644,116 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CTGTTCATCAGCAGCTTGGC -3'
(R):5'- CCCATAGGTATAGATGATGCCG -3'

Sequencing Primer
(F):5'- CTTGGCTGGAGCTGACTTCC -3'
(R):5'- CAGCCCAGTAGGTAGTCGTTAG -3'

Posted On

2022-04-18