Mutagenetix > Incidental Mutation

Incidental Mutation 'R7135:Chrm3'

553022

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

045247-MU

Accession Numbers

Essential gene?

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

Stock #

R7135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9925522-10410883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9927837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 400 (V400I)

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: V400I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000055579
Gene: ENSMUSG00000046159
AA Change: V400I

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: V400I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000140131
Gene: ENSMUSG00000046159
AA Change: V400I

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (83/83)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,819,887 (GRCm39)	Y221*	probably null	Het
AC166344.1	T	A	14: 43,158,245 (GRCm39)	F97I		Het
Ankmy2	T	C	12: 36,246,311 (GRCm39)	S412P	probably benign	Het
Ap1s3	T	C	1: 79,586,919 (GRCm39)	T144A	probably benign	Het
Armh2	T	C	13: 24,925,489 (GRCm39)	S78P	probably benign	Het
Asb3	T	A	11: 30,948,501 (GRCm39)	L59*	probably null	Het
Asxl3	G	T	18: 22,650,758 (GRCm39)	G916*	probably null	Het
Asxl3	G	C	18: 22,650,759 (GRCm39)	G916A	probably damaging	Het
Birc2	A	C	9: 7,818,762 (GRCm39)	F610V	probably damaging	Het
Camk4	G	A	18: 33,240,996 (GRCm39)		probably null	Het
Ccdc162	A	G	10: 41,549,855 (GRCm39)	S343P	probably benign	Het
Ccnk	T	A	12: 108,152,734 (GRCm39)	L17Q	probably damaging	Het
Cd59b	G	A	2: 103,914,792 (GRCm39)	W63*	probably null	Het
Crb1	C	A	1: 139,171,105 (GRCm39)	V762F	probably damaging	Het
Cspp1	C	T	1: 10,159,161 (GRCm39)	T529I	possibly damaging	Het
Cttnbp2	A	G	6: 18,448,446 (GRCm39)	I71T	possibly damaging	Het
Cyb561	C	A	11: 105,826,393 (GRCm39)	G90V	probably damaging	Het
Cyld	T	A	8: 89,471,520 (GRCm39)	D804E	possibly damaging	Het
Ddx31	G	A	2: 28,738,318 (GRCm39)	V160I	probably benign	Het
Dgkg	T	C	16: 22,319,132 (GRCm39)	D643G	probably damaging	Het
Dnah12	T	G	14: 26,523,370 (GRCm39)	I1953S	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,178,870 (GRCm39)	W848R	probably damaging	Het
Dnah7c	C	T	1: 46,572,368 (GRCm39)	T947M	probably damaging	Het
Dnmt3c	C	A	2: 153,556,872 (GRCm39)		probably null	Het
Dsp	A	T	13: 38,363,049 (GRCm39)	Y443F	probably damaging	Het
Espl1	T	A	15: 102,227,959 (GRCm39)	C1603*	probably null	Het
Faiml	G	T	9: 99,116,496 (GRCm39)	R65S	probably benign	Het
Gfpt2	T	C	11: 49,695,782 (GRCm39)	I4T	probably damaging	Het
Gm10376	T	A	14: 42,867,950 (GRCm39)	M179L	probably benign	Het
Gm4302	T	A	10: 100,177,589 (GRCm39)	M291K	unknown	Het
Gnb1l	T	A	16: 18,363,918 (GRCm39)	D154E	probably benign	Het
Igkv10-94	T	C	6: 68,681,727 (GRCm39)	R38G	possibly damaging	Het
Inmt	A	T	6: 55,148,013 (GRCm39)	Y205*	probably null	Het
Krba1	A	G	6: 48,393,233 (GRCm39)	Q1049R	probably benign	Het
Lpxn	T	A	19: 12,810,683 (GRCm39)	C376S	probably damaging	Het
Lrrc52	T	A	1: 167,294,019 (GRCm39)	I89F	probably damaging	Het
Map9	A	T	3: 82,270,765 (GRCm39)	T110S	probably benign	Het
Mccc1	T	C	3: 36,049,967 (GRCm39)	Y75C	probably damaging	Het
Mff	T	A	1: 82,724,812 (GRCm39)	L203*	probably null	Het
Micall1	C	A	15: 78,993,624 (GRCm39)	D47E	unknown	Het
Mink1	T	C	11: 70,494,329 (GRCm39)	F243S	probably damaging	Het
Mlycd	C	T	8: 120,129,216 (GRCm39)	R228W	probably damaging	Het
Msr1	A	T	8: 40,042,465 (GRCm39)	V370E	possibly damaging	Het
Naip6	T	C	13: 100,436,927 (GRCm39)	E532G	probably damaging	Het
Nepn	G	A	10: 52,267,815 (GRCm39)	C27Y	probably damaging	Het
Ninl	T	C	2: 150,797,524 (GRCm39)	H592R	probably benign	Het
Nr4a2	A	G	2: 57,002,261 (GRCm39)	M64T	possibly damaging	Het
Oprm1	A	T	10: 6,780,203 (GRCm39)	I171F	possibly damaging	Het
Or4g16	T	A	2: 111,137,365 (GRCm39)	F272I	probably benign	Het
Or5p60	T	C	7: 107,723,781 (GRCm39)	K230E	probably damaging	Het
Pcbp1	A	T	6: 86,502,488 (GRCm39)	M137K	possibly damaging	Het
Pcf11	A	T	7: 92,306,524 (GRCm39)	S1215T	probably benign	Het
Pdlim5	A	T	3: 142,017,683 (GRCm39)		probably null	Het
Pecam1	T	C	11: 106,579,857 (GRCm39)	I402V	probably damaging	Het
Pex12	T	C	11: 83,188,468 (GRCm39)	T176A	probably benign	Het
Phf3	T	C	1: 30,870,190 (GRCm39)	K286R	possibly damaging	Het
Pik3ap1	T	A	19: 41,320,760 (GRCm39)	D153V	probably damaging	Het
Pkhd1l1	T	A	15: 44,448,374 (GRCm39)		probably null	Het
Plekhn1	A	G	4: 156,307,792 (GRCm39)	V378A	probably benign	Het
Pramel26	A	T	4: 143,537,233 (GRCm39)	L366Q	probably damaging	Het
Ptprm	A	T	17: 67,251,283 (GRCm39)	D531E	possibly damaging	Het
Pum2	A	T	12: 8,778,952 (GRCm39)	Q508L	possibly damaging	Het
Rad54l	A	G	4: 115,963,027 (GRCm39)	S324P	probably damaging	Het
Recql5	C	T	11: 115,821,498 (GRCm39)		probably null	Het
Reln	A	T	5: 22,181,594 (GRCm39)	V1763D	possibly damaging	Het
Rp1	T	C	1: 4,418,391 (GRCm39)	N907S	possibly damaging	Het
Scaf11	T	A	15: 96,318,209 (GRCm39)	N452Y	possibly damaging	Het
Scgb2b3	T	A	7: 31,059,639 (GRCm39)	H45L	possibly damaging	Het
Sim1	A	G	10: 50,772,023 (GRCm39)	T11A	probably damaging	Het
Slc5a12	T	A	2: 110,447,059 (GRCm39)	M189K	possibly damaging	Het
Slco2b1	C	T	7: 99,344,270 (GRCm39)	G10S	probably null	Het
Speer1j	C	T	5: 11,555,198 (GRCm39)	P83S	probably damaging	Het
Stxbp3	A	G	3: 108,708,071 (GRCm39)	L410P	probably damaging	Het
Sugct	T	C	13: 17,476,594 (GRCm39)	N297D	probably benign	Het
Syne1	A	G	10: 5,183,409 (GRCm39)	I4132T	probably benign	Het
Teddm1b	A	T	1: 153,750,912 (GRCm39)	L240F	probably damaging	Het
Tlr5	C	A	1: 182,803,088 (GRCm39)	D797E	possibly damaging	Het
Tmprss13	G	T	9: 45,249,643 (GRCm39)	G327C	probably damaging	Het
Tnrc18	G	T	5: 142,773,572 (GRCm39)	A419D		Het
Ttc28	T	C	5: 111,427,873 (GRCm39)	Y1790H	probably damaging	Het
Vmn1r125	T	G	7: 21,006,327 (GRCm39)	M75R	probably damaging	Het
Vwa3a	T	A	7: 120,372,253 (GRCm39)	D276E	possibly damaging	Het
Wdfy3	C	T	5: 102,063,303 (GRCm39)	V1322M	probably damaging	Het
Wdr11	T	C	7: 129,229,830 (GRCm39)	S872P	possibly damaging	Het
Zc3h13	T	C	14: 75,559,161 (GRCm39)	S357P	unknown	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
R0408:Chrm3	UTSW	13	9,927,969 (GRCm39)	missense	probably benign	0.10
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
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'- CCAGCGTGGCTTCTTTGAAG -3'
(R):5'- CACAGTAGCAGTGACAGTTGG -3'

Sequencing Primer
(F):5'- CTTCTTTGAAGGACAGAGGTAGAGC -3'
(R):5'- TTGGAATAACAACGATGCTGCTGC -3'

Posted On

2019-05-15