Mutagenetix > Incidental Mutation

Incidental Mutation 'R1557:Chrm3'

170367

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

039596-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9875486-10360847 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9878314 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 229 (T229S)

Ref Sequence

ENSEMBL: ENSMUSP00000140131 (fasta)

Gene Model

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

AlphaFold

Q9ERZ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063093
AA Change: T229S

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055579
Gene: ENSMUSG00000046159
AA Change: T229S

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

possibly damaging
Transcript: ENSMUST00000187510
AA Change: T229S

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140131
Gene: ENSMUSG00000046159
AA Change: T229S

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

Meta Mutation Damage Score

0.1754

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

96% (75/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	C	1: 53,181,866	D68E	possibly damaging	Het
Abca3	T	C	17: 24,399,980	V870A	possibly damaging	Het
Aldh3a2	A	T	11: 61,249,059	F416I	probably damaging	Het
Armc6	A	T	8: 70,225,448	L77Q	possibly damaging	Het
Asb17	A	G	3: 153,850,933	I226V	probably benign	Het
Aspm	A	G	1: 139,468,668	I862V	probably benign	Het
Atr	T	A	9: 95,871,449	D701E	probably damaging	Het
Baz1b	C	T	5: 135,218,243	L849F	possibly damaging	Het
Cbr1	T	C	16: 93,608,789	V97A	probably benign	Het
Cep295	G	A	9: 15,332,010	Q1669*	probably null	Het
Cfap54	T	C	10: 92,984,227	T1242A	possibly damaging	Het
Cnga3	A	G	1: 37,260,985	Y300C	probably damaging	Het
Col14a1	A	C	15: 55,388,579	I544L	unknown	Het
Crocc	T	C	4: 141,025,465	E1208G	probably damaging	Het
Cyp2j8	A	T	4: 96,470,476		probably benign	Het
Dcbld2	T	C	16: 58,465,350	I624T	possibly damaging	Het
Ddah1	A	C	3: 145,891,472	I258L	probably benign	Het
Dnah6	G	A	6: 73,049,131	Q3460*	probably null	Het
Dync2h1	T	A	9: 7,140,911	D1372V	probably damaging	Het
Egln1	G	A	8: 124,948,241	R272*	probably null	Het
Elf1	A	G	14: 79,567,180	D95G	possibly damaging	Het
Fkbp5	A	G	17: 28,402,755	F374L	probably damaging	Het
Fli1	T	C	9: 32,461,244		probably benign	Het
Gabbr2	T	C	4: 46,846,436	T158A	probably damaging	Het
Gp2	A	C	7: 119,450,079	Y412D	probably damaging	Het
Hmcn1	A	G	1: 150,734,532	V1462A	possibly damaging	Het
Ide	T	C	19: 37,280,761		probably null	Het
Kalrn	T	C	16: 34,314,278	K372R	possibly damaging	Het
Kcnj16	A	G	11: 111,025,241	D243G	possibly damaging	Het
Kif7	A	G	7: 79,714,157	M1T	probably null	Het
Klri2	A	T	6: 129,732,211	L226Q	probably damaging	Het
Kremen1	T	C	11: 5,215,373		probably null	Het
Lama3	T	C	18: 12,513,731		probably benign	Het
Lmln	C	A	16: 33,088,211	R336S	probably benign	Het
Lrch4	T	A	5: 137,637,556	D266E	probably benign	Het
Lrrc28	C	T	7: 67,559,929	R174H	probably damaging	Het
Mib1	T	A	18: 10,798,474	D778E	probably damaging	Het
Msra	T	C	14: 64,123,326	I125V	possibly damaging	Het
Olfr1180	A	T	2: 88,412,211	V149E	possibly damaging	Het
Olfr1281	T	A	2: 111,328,619	S67T	probably damaging	Het
Olfr670	A	G	7: 104,960,540	F64S	probably damaging	Het
Olfr790	C	A	10: 129,501,622	T246N	probably damaging	Het
Olfr930	A	G	9: 38,930,659	M163V	possibly damaging	Het
Olfr95	A	G	17: 37,211,353	F167L	probably damaging	Het
Pes1	T	A	11: 3,976,824	Y369N	probably damaging	Het
Pgam2	T	C	11: 5,801,773	D221G	possibly damaging	Het
Prl2c5	T	C	13: 13,190,680	V137A	possibly damaging	Het
Rasal1	T	A	5: 120,676,849	D721E	possibly damaging	Het
Sass6	G	T	3: 116,618,732	E385D	possibly damaging	Het
Sema5a	A	G	15: 32,460,272	R60G	probably benign	Het
Sesn1	T	C	10: 41,903,766	S399P	probably damaging	Het
Skiv2l	G	A	17: 34,848,422	L47F	probably damaging	Het
Slc10a2	C	T	8: 5,091,755	V210M	probably damaging	Het
Slc8a3	C	T	12: 81,315,557	G163S	probably damaging	Het
Sorbs2	T	C	8: 45,759,197		probably benign	Het
Speer4f1	T	C	5: 17,479,492	W173R	probably damaging	Het
Spon2	C	A	5: 33,216,764	G92W	probably damaging	Het
Sycp2	A	T	2: 178,395,216		probably benign	Het
Tex33	C	A	15: 78,386,274	R98M	probably damaging	Het
Tfb1m	A	G	17: 3,554,966	V84A	probably damaging	Het
Tmem18	G	T	12: 30,587,199		probably null	Het
Tom1l1	A	G	11: 90,656,384	L290S	possibly damaging	Het
Tube1	T	G	10: 39,145,715		probably null	Het
Ugt2b35	T	A	5: 87,007,297		probably null	Het
Unc93b1	T	A	19: 3,942,403	Y269N	probably benign	Het
Usp16	T	C	16: 87,462,142		probably null	Het
Vmn1r38	A	T	6: 66,776,386	S249T	probably benign	Het
Vmn1r42	T	A	6: 89,844,751	M279L	possibly damaging	Het
Zdhhc23	T	A	16: 43,971,466	T315S	possibly damaging	Het
Zfp472	T	C	17: 32,975,926	F12L	probably benign	Het
Zfr2	T	C	10: 81,247,391	S634P	probably benign	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
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
R1866:Chrm3	UTSW	13	9878481	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'- TGCTACAGCTTCGAGAACTGCC -3'
(R):5'- GCCAGCAATGCTTCTGTCATGAATC -3'

Sequencing Primer
(F):5'- CTGTGGGGTGGACAAAGTTTTC -3'
(R):5'- AATGCTTCTGTCATGAATCTGCTG -3'

Posted On

2014-04-13