Mutagenetix > Incidental Mutation

Incidental Mutation 'R4910:Chrm2'

379384

Institutional Source

Beutler Lab

Gene Symbol

Chrm2

Ensembl Gene

ENSMUSG00000045613

Gene Name

cholinergic receptor, muscarinic 2, cardiac

Synonyms

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

MMRRC Submission

042512-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R4910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36388084-36528414 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36524233 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 342 (T342S)

Ref Sequence

ENSEMBL: ENSMUSP00000130874 (fasta)

Gene Model

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

AlphaFold

Q9ERZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000172278
AA Change: T342S

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130874
Gene: ENSMUSG00000045613
AA Change: T342S

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

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.6%
20x: 86.1%

Validation Efficiency

95% (144/151)

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	A	3: 36,998,199	T3016K	probably damaging	Het
Adam3	T	A	8: 24,694,305	I560L	probably benign	Het
Agxt	T	C	1: 93,135,714	F113L	probably benign	Het
Aknad1	T	A	3: 108,781,252		probably null	Het
Alpk2	T	A	18: 65,266,286	K2074*	probably null	Het
Apob	A	G	12: 8,007,848	Y2077C	probably damaging	Het
Arhgap17	A	T	7: 123,308,377	L254Q	probably damaging	Het
Arhgap26	T	A	18: 38,993,637		probably benign	Het
Arhgef5	A	G	6: 43,272,828	D171G	probably benign	Het
Arid1b	T	A	17: 5,342,203	S2003T	probably damaging	Het
Armc5	T	G	7: 128,240,728	L406R	possibly damaging	Het
Arsb	T	C	13: 93,771,977	V67A	probably benign	Het
Aspm	A	G	1: 139,491,543	Y2982C	probably damaging	Het
Btbd7	A	G	12: 102,808,048	L487P	probably damaging	Het
Card11	C	G	5: 140,874,414	D1063H	probably damaging	Het
Ccdc186	G	A	19: 56,798,691	T615M	probably damaging	Het
Cd101	T	A	3: 100,993,889	T960S	probably benign	Het
Cdca7l	C	A	12: 117,873,785	S191*	probably null	Het
Cemip	A	T	7: 83,997,411	I143N	probably damaging	Het
Cep170	C	T	1: 176,782,263	E161K	possibly damaging	Het
Cib2	A	G	9: 54,549,879	F34L	probably benign	Het
Cnot1	A	T	8: 95,733,231	I1836N	probably benign	Het
Col4a3	C	A	1: 82,672,679	P552Q	unknown	Het
Cp	T	A	3: 19,989,224		probably benign	Het
Cul3	C	T	1: 80,290,089	V112I	probably benign	Het
Dcdc5	A	G	2: 106,365,550		noncoding transcript	Het
Disp1	A	T	1: 183,135,463	V133E	probably damaging	Het
Dlg4	A	G	11: 70,030,925	D30G	probably damaging	Het
Dopey1	C	T	9: 86,492,061	T191I	probably damaging	Het
Enam	T	G	5: 88,502,314	S561A	probably benign	Het
Fbxw8	G	T	5: 118,125,027		probably null	Het
Filip1	A	G	9: 79,817,932	V1135A	probably benign	Het
Galnt6	T	C	15: 100,716,178	T81A	probably benign	Het
Ghdc	T	C	11: 100,766,988	K472E	probably benign	Het
Gm10568	T	G	1: 3,680,941		noncoding transcript	Het
Gm4788	T	G	1: 139,774,563	D61A	probably damaging	Het
Gm4953	T	A	1: 159,168,359		noncoding transcript	Het
Gm6871	T	A	7: 41,573,592	H24L	probably benign	Het
Gm8298	T	A	3: 59,869,014		probably null	Het
Gpr155	G	A	2: 73,367,538	Q413*	probably null	Het
Grhl2	A	G	15: 37,291,676		probably null	Het
Ighv1-31	G	C	12: 114,829,508	S36*	probably null	Het
Ighv8-5	A	G	12: 115,067,842	S26P	probably damaging	Het
Igkv17-134	A	C	6: 67,720,926		probably benign	Het
Igkv5-48	A	C	6: 69,726,849	L24R	probably damaging	Het
Isg20l2	T	A	3: 87,939,263	V340E	probably damaging	Het
Lrrtm1	A	G	6: 77,244,901	Y447C	probably damaging	Het
Ltbp1	T	C	17: 75,327,292	S855P	probably damaging	Het
Mgat4e	A	T	1: 134,541,864	N147K	probably damaging	Het
Mlc1	A	G	15: 88,958,212	L315P	possibly damaging	Het
Mrgpra2a	A	G	7: 47,426,544	V322A	probably benign	Het
Mroh7	T	C	4: 106,709,955		probably null	Het
Mybpc1	T	A	10: 88,555,724	K304*	probably null	Het
Nlrp14	A	C	7: 107,186,583	D622A	possibly damaging	Het
Nlrp1b	T	A	11: 71,217,277	H466L	probably benign	Het
Nlrp4d	T	A	7: 10,378,409		noncoding transcript	Het
Nrxn3	A	G	12: 89,260,360	E628G	possibly damaging	Het
Nup133	T	C	8: 123,927,131	R530G	possibly damaging	Het
Nup98	A	G	7: 102,195,800	S21P	unknown	Het
Olfr1307	A	T	2: 111,945,078	I126K	possibly damaging	Het
Olfr168	T	C	16: 19,530,018	T301A	probably benign	Het
Olfr173	T	A	16: 58,797,442	T135S	probably benign	Het
Olfr251	T	A	9: 38,378,742	V287E	probably null	Het
Olfr671	G	A	7: 104,975,479	P169S	possibly damaging	Het
Olfr753-ps1	T	C	17: 37,170,043	I202V	probably benign	Het
Olfr798	T	C	10: 129,625,807	T85A	probably damaging	Het
Otog	A	T	7: 46,264,062	Y773F	probably damaging	Het
Otog	A	T	7: 46,298,534	I2320F	probably damaging	Het
Otogl	T	C	10: 107,879,517	S433G	probably benign	Het
Pcdhb17	A	T	18: 37,485,159	M1L	possibly damaging	Het
Pde7b	T	A	10: 20,724,734		probably benign	Het
Pgm2	T	C	4: 99,963,527	V207A	probably damaging	Het
Pkd1	T	A	17: 24,572,687	V1116E	probably damaging	Het
Pkd1l1	T	A	11: 8,929,360	Y497F	possibly damaging	Het
Pomgnt2	T	C	9: 121,982,947	N256S	probably benign	Het
Pot1a	A	T	6: 25,746,021		probably benign	Het
Prdm9	T	C	17: 15,544,323	T732A	probably benign	Het
Prg4	T	A	1: 150,455,823		probably benign	Het
Ptpro	T	C	6: 137,368,338	V114A	probably damaging	Het
Pyurf	A	G	6: 57,691,948	S20P	unknown	Het
Rasgrf1	A	G	9: 89,976,752	T488A	probably benign	Het
Rassf8	A	T	6: 145,815,280	K111*	probably null	Het
Reps1	A	T	10: 18,107,688	E426D	probably damaging	Het
Robo2	T	C	16: 73,933,778	K982R	probably damaging	Het
Rps23	T	C	13: 90,923,752		probably null	Het
Scamp4	T	A	10: 80,609,671	V56E	probably damaging	Het
Serpina1c	C	T	12: 103,895,032	V408I	probably benign	Het
Sigirr	A	G	7: 141,093,788	W49R	probably damaging	Het
Slc17a6	A	T	7: 51,658,741	H271L	possibly damaging	Het
Slc7a5	G	T	8: 121,885,122	T389K	probably damaging	Het
Slf1	T	A	13: 77,043,880	H945L	probably benign	Het
Slit3	T	C	11: 35,632,722	S662P	probably damaging	Het
Snta1	C	A	2: 154,377,018	E466*	probably null	Het
Sowaha	A	G	11: 53,478,445	L488P	probably damaging	Het
Spata17	C	A	1: 187,194,011	V41F	probably damaging	Het
Spta1	T	A	1: 174,217,863		probably null	Het
Srrm2	T	A	17: 23,815,388		probably benign	Het
Stard13	T	C	5: 151,062,527	N388S	probably benign	Het
Stmn3	T	C	2: 181,308,837	K59E	probably damaging	Het
Sval1	A	G	6: 41,955,444	N76S	probably benign	Het
Svep1	T	C	4: 58,096,276	H1448R	possibly damaging	Het
Sycp2	A	T	2: 178,358,224	D986E	probably benign	Het
Sytl5	C	T	X: 9,915,602	P181L	possibly damaging	Het
Tbkbp1	G	A	11: 97,139,130	S400L	probably benign	Het
Tesc	G	T	5: 118,056,466		probably benign	Het
Tjp1	C	T	7: 65,343,727	G33R	probably damaging	Het
Tlr11	C	A	14: 50,362,889	F777L	probably benign	Het
Tmem156	A	G	5: 65,091,462		probably benign	Het
Top3a	A	G	11: 60,752,378		probably benign	Het
Tpcn1	A	G	5: 120,556,519	W162R	probably damaging	Het
Tpd52l2	A	T	2: 181,515,212		probably benign	Het
Trim80	G	A	11: 115,446,455	G381D	probably damaging	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Vmn2r117	TC	T	17: 23,479,513		probably null	Het
Vmn2r56	T	A	7: 12,715,535	I259F	possibly damaging	Het
Vmn2r59	T	C	7: 42,043,653	T508A	probably benign	Het
Wdr73	A	G	7: 80,891,708	V362A	probably damaging	Het
Zdhhc21	G	T	4: 82,820,331	T207K	possibly damaging	Het
Zfp120	T	A	2: 150,117,952	Q150L	probably damaging	Het
Zfp212	C	A	6: 47,931,499	Q471K	possibly damaging	Het
Zfp804b	C	T	5: 6,770,540	G841D	possibly damaging	Het
Znfx1	A	T	2: 167,036,804	M1884K	probably damaging	Het
Znfx1	G	T	2: 167,037,482	A1658D	probably benign	Het

Other mutations in Chrm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Chrm2	APN	6	36523391	missense	probably damaging	1.00
IGL00495:Chrm2	APN	6	36523420	missense	possibly damaging	0.61
IGL01011:Chrm2	APN	6	36524438	missense	probably benign	0.41
IGL01482:Chrm2	APN	6	36523757	missense	possibly damaging	0.95
R0101:Chrm2	UTSW	6	36524495	missense	probably damaging	1.00
R0390:Chrm2	UTSW	6	36524111	missense	probably benign	0.06
R0539:Chrm2	UTSW	6	36523706	missense	possibly damaging	0.69
R0972:Chrm2	UTSW	6	36524466	missense	possibly damaging	0.56
R2106:Chrm2	UTSW	6	36523447	missense	probably damaging	1.00
R3552:Chrm2	UTSW	6	36523810	missense	probably damaging	1.00
R4431:Chrm2	UTSW	6	36524162	missense	probably benign
R5358:Chrm2	UTSW	6	36523355	missense	probably damaging	1.00
R5846:Chrm2	UTSW	6	36523450	missense	probably damaging	0.98
R6108:Chrm2	UTSW	6	36523295	missense	probably damaging	1.00
R6418:Chrm2	UTSW	6	36523739	missense	probably damaging	1.00
R6628:Chrm2	UTSW	6	36523357	missense	probably damaging	1.00
R6677:Chrm2	UTSW	6	36524092	missense	probably damaging	0.99
R6716:Chrm2	UTSW	6	36524435	missense	probably damaging	1.00
R7658:Chrm2	UTSW	6	36523249	missense	probably benign	0.00
R8004:Chrm2	UTSW	6	36523286	missense	probably damaging	1.00
R8185:Chrm2	UTSW	6	36523889	missense	probably benign	0.00
R8277:Chrm2	UTSW	6	36523276	missense	probably benign	0.31
R8557:Chrm2	UTSW	6	36524075	missense	probably benign
R9395:Chrm2	UTSW	6	36524261	missense	possibly damaging	0.50
R9441:Chrm2	UTSW	6	36524020	missense	probably benign	0.04
Z1177:Chrm2	UTSW	6	36524607	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAAAACTGCGTTCAGGGG -3'
(R):5'- TGACATTGTATGGCGCCCAC -3'

Sequencing Primer
(F):5'- CTGCGTTCAGGGGGAGGAG -3'
(R):5'- GCCCACGTGATGATGAAAGCC -3'

Posted On

2016-04-15