Mutagenetix > Incidental Mutation

Incidental Mutation 'R1866:Chrm3'

208759

Institutional Source

Beutler Lab

Gene Symbol

Chrm3

Ensembl Gene

ENSMUSG00000046159

Gene Name

cholinergic receptor, muscarinic 3, cardiac

Synonyms

muscarinic acetylcholine receptor 3, Chrm-3, M3R

MMRRC Submission

039889-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R1866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9875486-10360847 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9878481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 173 (L173P)

Ref Sequence

ENSEMBL: ENSMUSP00000140131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063093] [ENSMUST00000187510]

AlphaFold

Q9ERZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000063093
AA Change: L173P

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

SMART Domains

Protein: ENSMUSP00000055579
Gene: ENSMUSG00000046159
AA Change: L173P

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	75	265	8.9e-7	PFAM
Pfam:7TM_GPCR_Srsx	78	270	6e-11	PFAM
Pfam:7tm_1	84	543	6.9e-82	PFAM
low complexity region	564	576	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187510
AA Change: L173P

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

SMART Domains

Protein: ENSMUSP00000140131
Gene: ENSMUSG00000046159
AA Change: L173P

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	75	265	8.5e-7	PFAM
Pfam:7TM_GPCR_Srsx	78	270	6e-11	PFAM
Pfam:7tm_1	84	543	2.6e-88	PFAM
low complexity region	564	576	N/A	INTRINSIC

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

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 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 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous null mice show reduced body weight and gonadal fat pad weight, decreased food intake, and low serum levels of leptin, triglycerides and insulin. Dilated pupils, hydronephrosis, and impaired contractility of smooth muscle are also observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	A	T	19: 23,892,831	E9V	probably benign	Het
Armc8	T	A	9: 99,536,280	T32S	probably benign	Het
Atr	T	A	9: 95,870,605		probably null	Het
Blm	A	G	7: 80,494,114	L859P	probably benign	Het
Cacna2d3	A	T	14: 28,969,214	F51L	probably damaging	Het
Cdcp2	A	G	4: 107,107,000	N349S	probably damaging	Het
Cfap57	G	A	4: 118,599,927	H442Y	possibly damaging	Het
Cpb1	C	G	3: 20,263,756	M201I	probably benign	Het
Dgcr8	A	T	16: 18,258,314	N2K	probably damaging	Het
Dnah3	A	T	7: 119,928,856		probably null	Het
Dnah6	T	A	6: 73,100,088	Q2398L	probably benign	Het
Dpep2	A	T	8: 105,989,448		probably null	Het
E430018J23Rik	A	G	7: 127,393,331	W36R	probably damaging	Het
Eif2ak4	C	A	2: 118,472,661	T1504K	probably damaging	Het
Exoc6b	A	G	6: 84,851,914	V496A	probably damaging	Het
Fam174a	A	C	1: 95,313,895	S27R	probably benign	Het
Fat2	T	A	11: 55,292,014	Q1339L	probably benign	Het
Fkbpl	T	A	17: 34,645,823	D188E	possibly damaging	Het
Focad	A	G	4: 88,407,165	D89G	possibly damaging	Het
Fstl4	C	A	11: 53,186,398	Q661K	probably benign	Het
Gck	T	C	11: 5,903,253	Y289C	probably benign	Het
Gm156	A	G	6: 129,775,380		probably null	Het
Gm16181	T	A	17: 35,223,937		probably benign	Het
Herc1	G	A	9: 66,450,791	G2385S	probably damaging	Het
Igfn1	T	C	1: 135,974,868		probably null	Het
Il12b	T	C	11: 44,408,526	W141R	probably damaging	Het
Itga6	T	A	2: 71,834,070	S517T	probably benign	Het
Kank1	A	G	19: 25,411,449	S801G	probably benign	Het
Lctl	A	G	9: 64,131,721	D205G	probably damaging	Het
Lhx3	A	C	2: 26,203,974	V79G	probably damaging	Het
Lrrc9	T	C	12: 72,497,138	I1127T	probably damaging	Het
Ltbp3	A	T	19: 5,747,849	E505D	probably benign	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Map6	A	G	7: 99,315,876	S291G	probably damaging	Het
Mapk7	A	G	11: 61,489,413	F671L	probably benign	Het
Mau2	A	G	8: 70,031,492	W149R	probably damaging	Het
Mb21d2	C	T	16: 28,828,515	V236I	possibly damaging	Het
Mc5r	C	G	18: 68,338,670		probably null	Het
Mical1	C	A	10: 41,485,470	P797Q	probably benign	Het
Mnx1	G	A	5: 29,474,045	R347C	unknown	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Nlrp2	G	T	7: 5,327,716	C560*	probably null	Het
Npat	T	A	9: 53,563,116	L736H	probably damaging	Het
Nup155	T	A	15: 8,115,526	V147E	probably damaging	Het
Nxpe2	A	G	9: 48,326,821	F45L	probably benign	Het
Obscn	T	C	11: 59,060,915	D4370G	probably benign	Het
Olfr1000	T	A	2: 85,608,844	H22L	probably benign	Het
Olfr1047	A	C	2: 86,228,728	M81R	probably damaging	Het
Olfr1252	T	C	2: 89,721,206	K302E	probably benign	Het
Olfr1260	T	C	2: 89,978,327	L183S	probably damaging	Het
Olfr1425	A	G	19: 12,073,819	V271A	probably benign	Het
Olfr1532-ps1	A	G	7: 106,915,066	I289M	probably damaging	Het
Olfr658	A	G	7: 104,644,797	S190P	probably benign	Het
Pcx	T	C	19: 4,621,221	I1157T	possibly damaging	Het
Pias2	T	A	18: 77,152,716	S589R	probably benign	Het
Plcb1	T	C	2: 135,344,173	F687L	probably benign	Het
Plk5	G	T	10: 80,360,569		probably null	Het
Pnpla2	T	A	7: 141,455,416	Y44N	probably damaging	Het
Ppp1r12a	T	A	10: 108,262,431	D337E	possibly damaging	Het
Prl2c5	G	T	13: 13,190,773		probably null	Het
Prom2	T	C	2: 127,536,594	D460G	probably damaging	Het
Pros1	A	G	16: 62,928,135	H657R	possibly damaging	Het
Prune2	A	G	19: 17,123,492	E2120G	probably damaging	Het
Rap2a	T	A	14: 120,478,935	L70Q	probably damaging	Het
Rbl2	A	T	8: 91,112,529	E858D	probably benign	Het
Rbm48	T	C	5: 3,595,997	Y69C	probably damaging	Het
Rgs12	T	A	5: 34,965,674	I267N	probably damaging	Het
Rpusd2	G	T	2: 119,035,247	A142S	probably benign	Het
Rspo2	A	T	15: 43,075,936	W153R	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Serinc5	T	A	13: 92,706,263	M407K	probably damaging	Het
Slain2	T	C	5: 72,957,322	S299P	probably damaging	Het
Slc17a4	A	G	13: 23,900,545	Y419H	possibly damaging	Het
Slc1a6	T	A	10: 78,791,349	D173E	probably damaging	Het
Slc22a19	A	T	19: 7,711,141	I18N	probably damaging	Het
Slc37a3	A	T	6: 39,359,968	F91L	probably damaging	Het
Spag5	C	A	11: 78,304,455	T196K	possibly damaging	Het
Susd2	G	T	10: 75,639,732	A326D	probably damaging	Het
Syna	G	T	5: 134,559,915	A60D	probably damaging	Het
Tchh	A	T	3: 93,447,760	E1502D	unknown	Het
Tecta	T	C	9: 42,392,024	H104R	probably damaging	Het
Tmed1	T	C	9: 21,509,091	D102G	probably damaging	Het
Trip12	T	C	1: 84,745,060	D128G	probably damaging	Het
Uroc1	A	G	6: 90,361,524	M656V	probably benign	Het
Usp47	T	A	7: 112,101,870	V1096D	possibly damaging	Het
Utp20	T	A	10: 88,762,770	K115*	probably null	Het
Vmn2r19	G	T	6: 123,331,638		probably null	Het
Vmn2r86	A	T	10: 130,446,386	V787D	probably damaging	Het
Vmn2r87	A	T	10: 130,472,572	I599N	possibly damaging	Het
Vwf	A	G	6: 125,667,529	D2449G	possibly damaging	Het
Zbtb7c	T	A	18: 76,136,906	C22S	probably benign	Het
Zc3h7a	A	G	16: 11,147,304	I655T	possibly damaging	Het

Other mutations in Chrm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01608:Chrm3	APN	13	9878598	missense	possibly damaging	0.80
IGL02266:Chrm3	APN	13	9877278	missense	probably damaging	0.99
IGL02701:Chrm3	APN	13	9878464	nonsense	probably null
IGL03085:Chrm3	APN	13	9877534	missense	probably damaging	1.00
IGL03213:Chrm3	APN	13	9878184	missense	probably benign	0.22
R0147:Chrm3	UTSW	13	9878744	missense	probably damaging	1.00
R0408:Chrm3	UTSW	13	9877933	missense	probably benign	0.10
R0544:Chrm3	UTSW	13	9877579	missense	probably damaging	0.99
R1557:Chrm3	UTSW	13	9878314	missense	possibly damaging	0.82
R1647:Chrm3	UTSW	13	9878425	missense	probably damaging	1.00
R1697:Chrm3	UTSW	13	9878758	missense	probably damaging	1.00
R1791:Chrm3	UTSW	13	9877416	missense	probably damaging	1.00
R2049:Chrm3	UTSW	13	9878335	missense	probably damaging	1.00
R2909:Chrm3	UTSW	13	9877997	missense	probably benign	0.43
R4212:Chrm3	UTSW	13	9877755	missense	probably benign	0.01
R4422:Chrm3	UTSW	13	9878555	nonsense	probably null
R4790:Chrm3	UTSW	13	9877662	missense	probably benign	0.10
R4934:Chrm3	UTSW	13	9877414	missense	probably damaging	1.00
R5353:Chrm3	UTSW	13	9878557	missense	probably damaging	1.00
R5623:Chrm3	UTSW	13	9877387	missense	possibly damaging	0.92
R6154:Chrm3	UTSW	13	9878440	missense	possibly damaging	0.88
R6416:Chrm3	UTSW	13	9877662	missense	probably benign
R6693:Chrm3	UTSW	13	9877422	missense	probably benign	0.27
R7135:Chrm3	UTSW	13	9877801	missense	probably benign	0.00
R7297:Chrm3	UTSW	13	9877833	missense	probably benign	0.01
R7423:Chrm3	UTSW	13	9878809	missense	probably benign
R7591:Chrm3	UTSW	13	9877313	nonsense	probably null
R8353:Chrm3	UTSW	13	9877231	makesense	probably null
R8355:Chrm3	UTSW	13	9878610	missense	probably damaging	1.00
R8446:Chrm3	UTSW	13	9878302	missense	probably damaging	0.99
R8453:Chrm3	UTSW	13	9877231	makesense	probably null
R9227:Chrm3	UTSW	13	9878443	missense	probably benign	0.00
R9230:Chrm3	UTSW	13	9878443	missense	probably benign	0.00
R9336:Chrm3	UTSW	13	9878616	missense	probably damaging	1.00
R9462:Chrm3	UTSW	13	9877401	missense
R9537:Chrm3	UTSW	13	9877426	missense	probably damaging	1.00
R9586:Chrm3	UTSW	13	9877444	missense	probably damaging	1.00
X0066:Chrm3	UTSW	13	9877720	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATGTAAAAGGCAGCGATCGC -3'
(R):5'- AACTACTTCCTCTTAAGCCTGG -3'

Sequencing Primer
(F):5'- CGATCGCCGTGCCGAAG -3'
(R):5'- TGCGCAGATCTGATCATCG -3'

Posted On

2014-06-30