Mutagenetix > Incidental Mutation

Incidental Mutation 'R5846:Chrm2'

453612

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

044064-MU

Accession Numbers

Essential gene?

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

Stock #

R5846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36365019-36505349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36500385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 81 (T81S)

Ref Sequence

ENSEMBL: ENSMUSP00000130874 (fasta)

Gene Model

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

AlphaFold

Q9ERZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000172278
AA Change: T81S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130874
Gene: ENSMUSG00000045613
AA Change: T81S

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

Meta Mutation Damage Score

0.2077

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,562,377 (GRCm39)	S335P	unknown	Het
Ace3	A	T	11: 105,889,188 (GRCm39)	I473F	probably benign	Het
Adcy2	T	A	13: 68,886,707 (GRCm39)	N281Y	probably damaging	Het
Adgra1	T	A	7: 139,455,196 (GRCm39)	W275R	probably damaging	Het
Apmap	T	C	2: 150,450,341 (GRCm39)	D20G	probably damaging	Het
Arap2	T	C	5: 62,807,116 (GRCm39)	T1184A	probably damaging	Het
Atp13a2	T	C	4: 140,722,907 (GRCm39)	V303A	possibly damaging	Het
BC004004	A	T	17: 29,501,282 (GRCm39)		probably benign	Het
C1s1	G	A	6: 124,517,912 (GRCm39)	P23S	possibly damaging	Het
C1s2	T	A	6: 124,608,123 (GRCm39)	N197Y	probably damaging	Het
Camsap3	A	G	8: 3,653,980 (GRCm39)	H539R	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Cct4	T	C	11: 22,951,354 (GRCm39)		probably benign	Het
Dnaaf3	A	T	7: 4,526,686 (GRCm39)	S464T	possibly damaging	Het
Dnah10	T	A	5: 124,900,437 (GRCm39)	I3898N	possibly damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dnajc13	T	C	9: 104,067,584 (GRCm39)	K1187E	probably damaging	Het
Dock4	A	T	12: 40,867,735 (GRCm39)	D1437V	probably damaging	Het
Dst	C	T	1: 34,234,942 (GRCm39)	Q3674*	probably null	Het
Eef1a2	T	C	2: 180,794,776 (GRCm39)	Y141C	probably damaging	Het
Fads3	G	T	19: 10,030,397 (GRCm39)	Q178H	probably null	Het
Fbxw22	T	A	9: 109,215,829 (GRCm39)	M140L	probably benign	Het
Fndc7	A	G	3: 108,788,707 (GRCm39)	I178T	probably damaging	Het
Foxd1	T	C	13: 98,491,549 (GRCm39)	M141T	probably damaging	Het
H4c2	T	C	13: 23,941,215 (GRCm39)	V71A	possibly damaging	Het
Havcr2	T	C	11: 46,360,343 (GRCm39)	I141T	probably benign	Het
Hectd1	A	C	12: 51,820,618 (GRCm39)	N1190K	probably damaging	Het
Hook3	T	A	8: 26,534,355 (GRCm39)		probably benign	Het
Hpgd	T	A	8: 56,760,702 (GRCm39)	I133N	possibly damaging	Het
Itih2	T	C	2: 10,102,714 (GRCm39)	R807G	probably benign	Het
Klhl35	G	A	7: 99,122,094 (GRCm39)	G65D	probably damaging	Het
Lrch4	C	G	5: 137,631,919 (GRCm39)	C48W	probably damaging	Het
Mafa	A	G	15: 75,619,627 (GRCm39)	S49P	probably benign	Het
Magi1	A	G	6: 93,662,584 (GRCm39)	V1170A	probably damaging	Het
Mprip	A	T	11: 59,649,380 (GRCm39)	K1028M	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Numb	G	T	12: 83,923,521 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,929,435 (GRCm39)	L6063P	probably damaging	Het
Or2y6	A	G	11: 52,103,881 (GRCm39)	*312Q	probably null	Het
Or6c6c	A	T	10: 129,540,756 (GRCm39)	N3I	probably damaging	Het
P3h3	A	T	6: 124,834,157 (GRCm39)		probably null	Het
Pi4k2a	A	G	19: 42,103,477 (GRCm39)	D329G	probably benign	Het
Ptch1	T	C	13: 63,713,268 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,376,754 (GRCm39)	V169A	probably benign	Het
Sdk1	T	C	5: 142,100,148 (GRCm39)	Y1393H	probably damaging	Het
Slc18a3	T	A	14: 32,185,880 (GRCm39)	M168L	probably benign	Het
Smurf1	T	C	5: 144,816,190 (GRCm39)	T722A	probably damaging	Het
Ssr2	C	T	3: 88,488,379 (GRCm39)	P85L	probably damaging	Het
Syne2	G	T	12: 76,074,898 (GRCm39)	A4614S	probably benign	Het
Tgfbr3	C	A	5: 107,288,521 (GRCm39)	G380V	possibly damaging	Het
Tk1	G	T	11: 117,706,748 (GRCm39)		probably benign	Het
Tmem245	A	T	4: 56,903,241 (GRCm39)	S610T	probably benign	Het
Tmtc2	A	G	10: 105,107,302 (GRCm39)		probably benign	Het
Trim30b	A	G	7: 104,006,578 (GRCm39)	Y93H	possibly damaging	Het
Tsks	A	G	7: 44,593,412 (GRCm39)	D126G	probably damaging	Het
Ttn	T	A	2: 76,733,812 (GRCm39)		probably benign	Het
Usp15	A	G	10: 123,017,647 (GRCm39)	W50R	probably damaging	Het
Vmn2r55	A	T	7: 12,404,492 (GRCm39)	F304I	probably benign	Het
Xirp2	T	A	2: 67,339,587 (GRCm39)	D609E	probably damaging	Het
Zan	C	T	5: 137,392,638 (GRCm39)		probably null	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
R2106:Chrm2	UTSW	6	36,500,382 (GRCm39)	missense	probably damaging	1.00
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
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

2017-02-10