Mutagenetix > Incidental Mutation

Incidental Mutation 'R0408:Chrm3'

40123

Institutional Source

Beutler Lab

Gene Symbol

Chrm3

Ensembl Gene

ENSMUSG00000046159

Gene Name

cholinergic receptor, muscarinic 3, cardiac

Synonyms

muscarinic acetylcholine receptor 3, M3R, Chrm-3

MMRRC Submission

038610-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R0408 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9925522-10410883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9927969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 356 (I356V)

Ref Sequence

ENSEMBL: ENSMUSP00000140131 (fasta)

Gene Model

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

AlphaFold

Q9ERZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000063093
AA Change: I356V

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055579
Gene: ENSMUSG00000046159
AA Change: I356V

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 benign
Transcript: ENSMUST00000187510
AA Change: I356V

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140131
Gene: ENSMUSG00000046159
AA Change: I356V

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,903,446 (GRCm39)	N1032K	probably damaging	Het
Abcc8	A	G	7: 45,756,457 (GRCm39)	I1416T	probably damaging	Het
Aco2	T	C	15: 81,797,319 (GRCm39)		probably null	Het
Akap13	C	T	7: 75,396,544 (GRCm39)	L2514F	probably damaging	Het
Aldh1a3	A	G	7: 66,055,798 (GRCm39)	V331A	probably damaging	Het
Arid3a	T	A	10: 79,786,667 (GRCm39)	D473E	probably benign	Het
Atg9a	A	G	1: 75,161,939 (GRCm39)	S536P	probably damaging	Het
Atxn7	A	T	14: 14,100,317 (GRCm38)	S668C	probably damaging	Het
Bcar3	A	T	3: 122,302,033 (GRCm39)	I243F	probably damaging	Het
Bend6	G	A	1: 33,901,834 (GRCm39)	P183S	probably damaging	Het
Bfsp2	A	T	9: 103,357,299 (GRCm39)	S43T	probably benign	Het
Camk4	G	A	18: 33,262,845 (GRCm39)	D136N	probably damaging	Het
Ceacam3	G	T	7: 16,885,808 (GRCm39)		probably benign	Het
Clec9a	T	A	6: 129,396,532 (GRCm39)	I133N	possibly damaging	Het
Ctnnd2	T	C	15: 30,634,823 (GRCm39)	L157P	probably damaging	Het
Ddhd2	T	C	8: 26,229,614 (GRCm39)		probably null	Het
Def8	T	C	8: 124,186,656 (GRCm39)	V436A	probably damaging	Het
Dipk1c	T	A	18: 84,738,488 (GRCm39)		probably null	Het
Dock10	T	C	1: 80,518,193 (GRCm39)	K1293R	probably benign	Het
Dync1h1	T	G	12: 110,598,126 (GRCm39)	D1772E	probably benign	Het
Ephx4	G	T	5: 107,561,387 (GRCm39)	G72C	probably damaging	Het
Fam136a	T	G	6: 86,343,707 (GRCm39)	V68G	possibly damaging	Het
Fcgrt	T	C	7: 44,751,363 (GRCm39)	E195G	probably damaging	Het
Fut9	T	A	4: 25,620,319 (GRCm39)	Q165L	possibly damaging	Het
Glb1l	T	C	1: 75,185,479 (GRCm39)	Y77C	probably damaging	Het
Gpr26	T	C	7: 131,569,249 (GRCm39)	V198A	possibly damaging	Het
Gpr26	C	A	7: 131,576,001 (GRCm39)		probably null	Het
Gsdma3	A	C	11: 98,526,164 (GRCm39)	E296A	probably benign	Het
Hyou1	G	T	9: 44,295,989 (GRCm39)	G385W	probably damaging	Het
Il17rb	T	C	14: 29,718,637 (GRCm39)	S482G	probably benign	Het
Itgb4	A	T	11: 115,898,428 (GRCm39)	R1715W	probably damaging	Het
Jak2	A	G	19: 29,263,717 (GRCm39)	S411G	probably benign	Het
Kdm3a	C	T	6: 71,588,663 (GRCm39)	D449N	probably benign	Het
Kifbp	T	C	10: 62,401,832 (GRCm39)	I23M	probably benign	Het
Klhl26	T	C	8: 70,905,130 (GRCm39)	D226G	probably damaging	Het
Klra1	T	A	6: 130,354,737 (GRCm39)	I94F	probably benign	Het
Lama3	A	G	18: 12,589,894 (GRCm39)	D808G	probably benign	Het
Lrp1b	C	T	2: 40,567,603 (GRCm39)	M272I	probably damaging	Het
Masp2	A	G	4: 148,690,496 (GRCm39)	D251G	probably benign	Het
Mob3b	T	C	4: 35,083,991 (GRCm39)	D66G	probably damaging	Het
Myo7a	T	C	7: 97,705,988 (GRCm39)	Q1863R	probably damaging	Het
Naa12	T	C	18: 80,255,029 (GRCm39)	S108P	probably damaging	Het
Or10al3	G	A	17: 38,012,190 (GRCm39)	V210I	probably benign	Het
Or4c103	A	T	2: 88,513,999 (GRCm39)	F26I	probably benign	Het
Pdgfd	T	A	9: 6,293,928 (GRCm39)	Y167*	probably null	Het
Pfas	A	G	11: 68,891,931 (GRCm39)		probably null	Het
Plin1	T	A	7: 79,372,394 (GRCm39)	T393S	probably damaging	Het
Prdm15	A	T	16: 97,636,986 (GRCm39)	N110K	possibly damaging	Het
Prune2	T	A	19: 17,099,674 (GRCm39)	V1726D	probably benign	Het
Sestd1	T	A	2: 77,022,137 (GRCm39)	D518V	probably damaging	Het
Setd2	C	T	9: 110,423,310 (GRCm39)	P344S	probably damaging	Het
Slc22a1	A	T	17: 12,875,828 (GRCm39)	I462N	probably damaging	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Tbc1d14	G	T	5: 36,728,643 (GRCm39)	T241K	possibly damaging	Het
Uaca	T	C	9: 60,779,141 (GRCm39)	L1176P	possibly damaging	Het
Ube2g1	G	C	11: 72,563,791 (GRCm39)	G52A	probably damaging	Het
Utrn	A	G	10: 12,259,934 (GRCm39)	*957R	probably null	Het
Vmn2r125	A	T	4: 156,703,153 (GRCm39)	E177V	probably damaging	Het
Vmn2r86	A	G	10: 130,282,723 (GRCm39)	F631S	probably damaging	Het
Zc3h13	T	A	14: 75,529,626 (GRCm39)	C42*	probably null	Het
Zc3h14	T	G	12: 98,730,082 (GRCm39)	V13G	probably damaging	Het
Zfat	A	T	15: 68,052,141 (GRCm39)	V551D	probably benign	Het
Zfp618	C	T	4: 63,004,809 (GRCm39)	R70W	probably damaging	Het

Other mutations in Chrm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01608:Chrm3	APN	13	9,928,634 (GRCm39)	missense	possibly damaging	0.80
IGL02266:Chrm3	APN	13	9,927,314 (GRCm39)	missense	probably damaging	0.99
IGL02701:Chrm3	APN	13	9,928,500 (GRCm39)	nonsense	probably null
IGL03085:Chrm3	APN	13	9,927,570 (GRCm39)	missense	probably damaging	1.00
IGL03213:Chrm3	APN	13	9,928,220 (GRCm39)	missense	probably benign	0.22
R0147:Chrm3	UTSW	13	9,928,780 (GRCm39)	missense	probably damaging	1.00
R0544:Chrm3	UTSW	13	9,927,615 (GRCm39)	missense	probably damaging	0.99
R1557:Chrm3	UTSW	13	9,928,350 (GRCm39)	missense	possibly damaging	0.82
R1647:Chrm3	UTSW	13	9,928,461 (GRCm39)	missense	probably damaging	1.00
R1697:Chrm3	UTSW	13	9,928,794 (GRCm39)	missense	probably damaging	1.00
R1791:Chrm3	UTSW	13	9,927,452 (GRCm39)	missense	probably damaging	1.00
R1866:Chrm3	UTSW	13	9,928,517 (GRCm39)	missense	probably damaging	1.00
R2049:Chrm3	UTSW	13	9,928,371 (GRCm39)	missense	probably damaging	1.00
R2909:Chrm3	UTSW	13	9,928,033 (GRCm39)	missense	probably benign	0.43
R4212:Chrm3	UTSW	13	9,927,791 (GRCm39)	missense	probably benign	0.01
R4422:Chrm3	UTSW	13	9,928,591 (GRCm39)	nonsense	probably null
R4790:Chrm3	UTSW	13	9,927,698 (GRCm39)	missense	probably benign	0.10
R4934:Chrm3	UTSW	13	9,927,450 (GRCm39)	missense	probably damaging	1.00
R5353:Chrm3	UTSW	13	9,928,593 (GRCm39)	missense	probably damaging	1.00
R5623:Chrm3	UTSW	13	9,927,423 (GRCm39)	missense	possibly damaging	0.92
R6154:Chrm3	UTSW	13	9,928,476 (GRCm39)	missense	possibly damaging	0.88
R6416:Chrm3	UTSW	13	9,927,698 (GRCm39)	missense	probably benign
R6693:Chrm3	UTSW	13	9,927,458 (GRCm39)	missense	probably benign	0.27
R7135:Chrm3	UTSW	13	9,927,837 (GRCm39)	missense	probably benign	0.00
R7297:Chrm3	UTSW	13	9,927,869 (GRCm39)	missense	probably benign	0.01
R7423:Chrm3	UTSW	13	9,928,845 (GRCm39)	missense	probably benign
R7591:Chrm3	UTSW	13	9,927,349 (GRCm39)	nonsense	probably null
R8353:Chrm3	UTSW	13	9,927,267 (GRCm39)	makesense	probably null
R8355:Chrm3	UTSW	13	9,928,646 (GRCm39)	missense	probably damaging	1.00
R8446:Chrm3	UTSW	13	9,928,338 (GRCm39)	missense	probably damaging	0.99
R8453:Chrm3	UTSW	13	9,927,267 (GRCm39)	makesense	probably null
R9227:Chrm3	UTSW	13	9,928,479 (GRCm39)	missense	probably benign	0.00
R9230:Chrm3	UTSW	13	9,928,479 (GRCm39)	missense	probably benign	0.00
R9336:Chrm3	UTSW	13	9,928,652 (GRCm39)	missense	probably damaging	1.00
R9462:Chrm3	UTSW	13	9,927,437 (GRCm39)	missense
R9537:Chrm3	UTSW	13	9,927,462 (GRCm39)	missense	probably damaging	1.00
R9586:Chrm3	UTSW	13	9,927,480 (GRCm39)	missense	probably damaging	1.00
X0066:Chrm3	UTSW	13	9,927,756 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCCACGGCAGACTCTAACTGGATG -3'
(R):5'- GCTATGAGCTACAACAGCAAGGCAC -3'

Sequencing Primer
(F):5'- AGCTTGGAGAAGTCCTTCTGAC -3'
(R):5'- AGGCACGAAACGGTCATC -3'

Posted On

2013-05-23