Mutagenetix > Incidental Mutation

Incidental Mutation 'R2106:Chrm2'

230963

Institutional Source

Beutler Lab

Gene Symbol

Chrm2

Ensembl Gene

ENSMUSG00000045613

Gene Name

cholinergic receptor, muscarinic 2, cardiac

Synonyms

muscarinic acetylcholine receptor 2, M2, AChR M2, Chrm-2

MMRRC Submission

040110-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R2106 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36365019-36505349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36500382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 80 (Y80H)

Ref Sequence

ENSEMBL: ENSMUSP00000130874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172278]

AlphaFold

Q9ERZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000172278
AA Change: Y80H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130874
Gene: ENSMUSG00000045613
AA Change: Y80H

Domain	Start	End	E-Value	Type
Pfam:7tm_1	40	440	2.5e-75	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have slightly decreased body weight (5%) compared to wild-type animals and are resistant to the tremorogenic, analgesic, and hypothermic responses to oxotremorine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	T	C	2: 26,992,837 (GRCm39)	F650S	probably benign	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akr1c13	T	A	13: 4,248,593 (GRCm39)	V266E	probably damaging	Het
Ankrd61	A	T	5: 143,828,564 (GRCm39)	L95Q	probably damaging	Het
Atp11a	A	G	8: 12,885,228 (GRCm39)	T22A	probably benign	Het
Brca1	A	G	11: 101,415,803 (GRCm39)	V777A	possibly damaging	Het
Ccdc40	G	T	11: 119,155,123 (GRCm39)	R1121L	probably damaging	Het
Cdhr4	A	C	9: 107,874,693 (GRCm39)	S588R	possibly damaging	Het
Cfap69	T	C	5: 5,645,979 (GRCm39)	N517D	probably benign	Het
Cimip2a	A	G	2: 25,110,663 (GRCm39)	Y157C	probably damaging	Het
Csgalnact2	G	T	6: 118,086,090 (GRCm39)	Y534*	probably null	Het
Defb35	A	G	8: 22,430,809 (GRCm39)	E61G	unknown	Het
Dhx15	A	T	5: 52,327,428 (GRCm39)	D95E	probably benign	Het
Dhx57	A	G	17: 80,582,792 (GRCm39)	V271A	probably damaging	Het
Dlg1	T	C	16: 31,631,574 (GRCm39)	S444P	probably damaging	Het
Edem1	T	A	6: 108,825,686 (GRCm39)	N406K	probably damaging	Het
Eif4g3	A	T	4: 137,810,230 (GRCm39)		probably benign	Het
Epb41	A	G	4: 131,717,152 (GRCm39)	I56T	probably damaging	Het
Epg5	T	A	18: 78,034,578 (GRCm39)	Y1442*	probably null	Het
Fat2	T	C	11: 55,147,390 (GRCm39)	T3951A	probably benign	Het
Fryl	A	G	5: 73,255,674 (GRCm39)	S786P	probably damaging	Het
Fyb2	A	G	4: 104,802,769 (GRCm39)	T224A	probably benign	Het
Ginm1	A	T	10: 7,651,090 (GRCm39)	F105L	probably damaging	Het
Heatr1	T	C	13: 12,426,939 (GRCm39)	V688A	probably benign	Het
Hnmt	T	G	2: 23,909,130 (GRCm39)	Q94H	probably benign	Het
Ice1	A	G	13: 70,753,741 (GRCm39)	Y782H	probably benign	Het
Immt	T	C	6: 71,848,499 (GRCm39)	V418A	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Krt84	T	C	15: 101,439,301 (GRCm39)	N248D	probably damaging	Het
Lig1	C	A	7: 13,039,863 (GRCm39)	R692S	probably damaging	Het
Lvrn	G	T	18: 47,011,356 (GRCm39)	A438S	probably damaging	Het
Mast4	C	T	13: 102,887,054 (GRCm39)	V1204I	probably damaging	Het
Med21	G	T	6: 146,550,710 (GRCm39)	D74Y	probably damaging	Het
Nat8	T	C	6: 85,807,506 (GRCm39)	D209G	probably benign	Het
Nipal1	C	A	5: 72,820,902 (GRCm39)	F132L	probably damaging	Het
Npr2	A	T	4: 43,644,329 (GRCm39)	I613F	probably damaging	Het
Nrcam	A	G	12: 44,617,073 (GRCm39)	T706A	probably benign	Het
Or5w1b	A	G	2: 87,475,895 (GRCm39)	S191P	probably damaging	Het
Or8w1	T	C	2: 87,465,503 (GRCm39)	E196G	probably benign	Het
Pam	A	G	1: 97,759,215 (GRCm39)	V823A	probably damaging	Het
Pdik1l	A	T	4: 134,011,565 (GRCm39)	Y93N	probably damaging	Het
Perm1	T	C	4: 156,303,336 (GRCm39)	W627R	probably damaging	Het
Pofut1	G	A	2: 153,101,713 (GRCm39)		probably null	Het
Prmt5	T	C	14: 54,745,374 (GRCm39)	I598V	probably benign	Het
Rab11fip5	T	C	6: 85,351,369 (GRCm39)	I48V	probably damaging	Het
Rad51d	T	A	11: 82,770,134 (GRCm39)	K261N	probably damaging	Het
Rapgef6	T	G	11: 54,559,512 (GRCm39)	I1050S	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,468,474 (GRCm39)	E4688G	probably damaging	Het
Siva1	G	T	12: 112,613,440 (GRCm39)	R96L	probably damaging	Het
Slc13a4	T	C	6: 35,264,799 (GRCm39)	N140S	probably damaging	Het
Slc26a5	T	A	5: 22,028,542 (GRCm39)	D342V	probably damaging	Het
Slfn9	A	G	11: 82,878,506 (GRCm39)	S208P	possibly damaging	Het
Sspo	C	A	6: 48,443,250 (GRCm39)	T1899N	possibly damaging	Het
Sytl1	T	C	4: 132,984,774 (GRCm39)	D200G	probably benign	Het
Tas2r118	T	C	6: 23,969,569 (GRCm39)	N164S	probably benign	Het
Tbc1d17	A	G	7: 44,497,692 (GRCm39)		probably null	Het
Tex14	T	C	11: 87,377,076 (GRCm39)	M140T	possibly damaging	Het
Tm6sf2	T	C	8: 70,532,396 (GRCm39)	F352S	probably benign	Het
Tmem88	A	G	11: 69,288,685 (GRCm39)	L78P	probably benign	Het
Trafd1	A	G	5: 121,511,274 (GRCm39)	S515P	probably benign	Het
Trpm6	A	T	19: 18,790,714 (GRCm39)	E583V	possibly damaging	Het
Ttc23l	A	G	15: 10,547,342 (GRCm39)	C91R	probably damaging	Het
Ubap1l	T	C	9: 65,281,089 (GRCm39)	S256P	probably benign	Het
Vmn1r26	T	G	6: 57,985,710 (GRCm39)	S160R	possibly damaging	Het
Vmn2r97	A	G	17: 19,168,100 (GRCm39)	S785G	probably damaging	Het
Wdr27	T	G	17: 15,141,116 (GRCm39)	R278S	probably benign	Het
Wdr7	T	C	18: 63,911,109 (GRCm39)	S834P	probably damaging	Het
Zdhhc12	C	T	2: 29,981,814 (GRCm39)	C116Y	probably damaging	Het
Zfp946	T	C	17: 22,672,466 (GRCm39)	F22L	probably benign	Het
Zfp948	G	T	17: 21,807,953 (GRCm39)	E382*	probably null	Het
Zfp956	T	A	6: 47,941,359 (GRCm39)	*573K	probably null	Het
Zim1	T	G	7: 6,681,073 (GRCm39)	T197P	probably benign	Het

Other mutations in Chrm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Chrm2	APN	6	36,500,326 (GRCm39)	missense	probably damaging	1.00
IGL00495:Chrm2	APN	6	36,500,355 (GRCm39)	missense	possibly damaging	0.61
IGL01011:Chrm2	APN	6	36,501,373 (GRCm39)	missense	probably benign	0.41
IGL01482:Chrm2	APN	6	36,500,692 (GRCm39)	missense	possibly damaging	0.95
R0101:Chrm2	UTSW	6	36,501,430 (GRCm39)	missense	probably damaging	1.00
R0390:Chrm2	UTSW	6	36,501,046 (GRCm39)	missense	probably benign	0.06
R0539:Chrm2	UTSW	6	36,500,641 (GRCm39)	missense	possibly damaging	0.69
R0972:Chrm2	UTSW	6	36,501,401 (GRCm39)	missense	possibly damaging	0.56
R3552:Chrm2	UTSW	6	36,500,745 (GRCm39)	missense	probably damaging	1.00
R4431:Chrm2	UTSW	6	36,501,097 (GRCm39)	missense	probably benign
R4910:Chrm2	UTSW	6	36,501,168 (GRCm39)	missense	probably benign	0.19
R5358:Chrm2	UTSW	6	36,500,290 (GRCm39)	missense	probably damaging	1.00
R5846:Chrm2	UTSW	6	36,500,385 (GRCm39)	missense	probably damaging	0.98
R6108:Chrm2	UTSW	6	36,500,230 (GRCm39)	missense	probably damaging	1.00
R6418:Chrm2	UTSW	6	36,500,674 (GRCm39)	missense	probably damaging	1.00
R6628:Chrm2	UTSW	6	36,500,292 (GRCm39)	missense	probably damaging	1.00
R6677:Chrm2	UTSW	6	36,501,027 (GRCm39)	missense	probably damaging	0.99
R6716:Chrm2	UTSW	6	36,501,370 (GRCm39)	missense	probably damaging	1.00
R7658:Chrm2	UTSW	6	36,500,184 (GRCm39)	missense	probably benign	0.00
R8004:Chrm2	UTSW	6	36,500,221 (GRCm39)	missense	probably damaging	1.00
R8185:Chrm2	UTSW	6	36,500,824 (GRCm39)	missense	probably benign	0.00
R8277:Chrm2	UTSW	6	36,500,211 (GRCm39)	missense	probably benign	0.31
R8557:Chrm2	UTSW	6	36,501,010 (GRCm39)	missense	probably benign
R9395:Chrm2	UTSW	6	36,501,196 (GRCm39)	missense	possibly damaging	0.50
R9441:Chrm2	UTSW	6	36,500,955 (GRCm39)	missense	probably benign	0.04
Z1177:Chrm2	UTSW	6	36,501,542 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTATTACCAGTCCTTACAAGAC -3'
(R):5'- GCTGCAATCATCATGCCTGC -3'

Sequencing Primer
(F):5'- CAGTCCTTACAAGACATTTGAAGTGG -3'
(R):5'- ATCATGCCTGCCATTTTTGTGG -3'

Posted On

2014-09-18