Mutagenetix > Incidental Mutation

Incidental Mutation 'R1647:Chrm3'

173977

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

039683-MU

Accession Numbers

Essential gene?

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

Stock #

R1647 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9925522-10410883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9928461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 192 (W192R)

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: W192R

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

SMART Domains

Protein: ENSMUSP00000055579
Gene: ENSMUSG00000046159
AA Change: W192R

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: W192R

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

SMART Domains

Protein: ENSMUSP00000140131
Gene: ENSMUSG00000046159
AA Change: W192R

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

0.9644

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

97% (70/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,768 (GRCm39)	S184P	probably damaging	Het
Adgb	A	G	10: 10,271,115 (GRCm39)	F817L	probably damaging	Het
Anxa10	T	C	8: 62,545,618 (GRCm39)	D38G	probably damaging	Het
Atp8b2	G	A	3: 89,849,091 (GRCm39)	A1081V	probably benign	Het
Baz1a	G	A	12: 55,021,983 (GRCm39)	R100C	probably damaging	Het
Ceacam18	A	C	7: 43,288,689 (GRCm39)	T147P	possibly damaging	Het
Cep170b	C	T	12: 112,702,806 (GRCm39)	T423I	probably damaging	Het
Chd6	A	G	2: 160,883,978 (GRCm39)	L89S	probably damaging	Het
Cnn1	C	A	9: 22,019,150 (GRCm39)	A202E	probably damaging	Het
Dcaf7	T	A	11: 105,942,628 (GRCm39)	F192I	probably damaging	Het
Eif2b5	T	C	16: 20,321,335 (GRCm39)	V296A	possibly damaging	Het
Entpd7	A	G	19: 43,710,184 (GRCm39)		probably benign	Het
Esr1	A	G	10: 4,951,260 (GRCm39)	E546G	possibly damaging	Het
Etaa1	C	A	11: 17,896,492 (GRCm39)	G542C	probably damaging	Het
Exosc8	A	T	3: 54,641,522 (GRCm39)		probably null	Het
Fras1	T	A	5: 96,874,472 (GRCm39)		probably null	Het
G930045G22Rik	T	C	6: 50,823,698 (GRCm39)		noncoding transcript	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,434,948 (GRCm39)		probably benign	Het
Gpr155	T	C	2: 73,194,508 (GRCm39)		probably null	Het
Has1	A	G	17: 18,070,247 (GRCm39)	Y225H	probably damaging	Het
Hk3	A	G	13: 55,162,274 (GRCm39)	F110S	probably damaging	Het
Iars1	A	G	13: 49,876,478 (GRCm39)	K848E	possibly damaging	Het
Il22ra1	C	A	4: 135,477,771 (GRCm39)	H281N	probably damaging	Het
Inpp4b	G	T	8: 82,583,403 (GRCm39)		probably benign	Het
Itga11	A	G	9: 62,667,652 (GRCm39)	N662D	probably benign	Het
Kif20b	A	T	19: 34,914,190 (GRCm39)	T355S	possibly damaging	Het
Kif21a	T	C	15: 90,878,570 (GRCm39)	T237A	probably damaging	Het
Klc1	T	C	12: 111,743,321 (GRCm39)	L216P	probably damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lama3	A	G	18: 12,665,256 (GRCm39)	D2330G	possibly damaging	Het
Lamb2	G	A	9: 108,358,622 (GRCm39)		probably null	Het
Limch1	T	A	5: 67,156,599 (GRCm39)	S511R	probably damaging	Het
Lnx2	C	A	5: 146,964,152 (GRCm39)	V468L	probably benign	Het
Lrriq1	A	T	10: 103,006,509 (GRCm39)	C1205*	probably null	Het
Lsm4	A	G	8: 71,130,456 (GRCm39)	Y25C	probably damaging	Het
Macc1	T	C	12: 119,410,156 (GRCm39)	M308T	probably benign	Het
Miip	T	C	4: 147,949,691 (GRCm39)	S174G	probably benign	Het
Mroh9	T	G	1: 162,873,625 (GRCm39)	E510A	probably damaging	Het
Msh2	C	T	17: 87,980,064 (GRCm39)	A14V	probably benign	Het
Nbea	T	A	3: 55,537,650 (GRCm39)	I2828F	probably damaging	Het
Nkx2-3	A	T	19: 43,602,895 (GRCm39)	Q167L	probably damaging	Het
Nup160	T	C	2: 90,540,432 (GRCm39)	Y854H	probably damaging	Het
Or10a3n	A	G	7: 108,492,972 (GRCm39)	I214T	probably damaging	Het
Or51a10	A	G	7: 103,699,376 (GRCm39)	Y62H	probably damaging	Het
Or5an10	T	A	19: 12,276,023 (GRCm39)	I158L	probably benign	Het
Pate9	A	G	9: 36,445,736 (GRCm39)	S72P	possibly damaging	Het
Phldb1	G	A	9: 44,626,730 (GRCm39)	P572S	probably damaging	Het
Plcb2	A	T	2: 118,554,261 (GRCm39)	M64K	possibly damaging	Het
Prr12	T	A	7: 44,683,616 (GRCm39)	N1683Y	probably benign	Het
Prrg4	C	A	2: 104,663,088 (GRCm39)	A173S	probably benign	Het
Pygl	T	A	12: 70,243,784 (GRCm39)	I553F	possibly damaging	Het
Rasd1	T	C	11: 59,854,920 (GRCm39)	M187V	probably benign	Het
Rasgrf1	A	G	9: 89,835,973 (GRCm39)	I234V	probably benign	Het
Rps6ka4	C	A	19: 6,816,730 (GRCm39)	V118L	probably benign	Het
Sbspon	C	A	1: 15,953,983 (GRCm39)	R99L	probably damaging	Het
Sdhaf3	T	C	6: 6,956,126 (GRCm39)	Y34H	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Shc2	T	A	10: 79,461,945 (GRCm39)	M367L	probably benign	Het
Slc26a5	T	A	5: 22,018,974 (GRCm39)	K590*	probably null	Het
Slc39a12	T	C	2: 14,456,803 (GRCm39)	V597A	probably benign	Het
Slc45a3	G	A	1: 131,905,262 (GRCm39)	G81D	probably damaging	Het
Spata2l	T	C	8: 123,960,041 (GRCm39)	N416S	probably benign	Het
Tdrd6	A	C	17: 43,938,000 (GRCm39)	V1016G	possibly damaging	Het
Tet2	A	G	3: 133,191,641 (GRCm39)	V931A	probably benign	Het
Tmem190	A	G	7: 4,787,120 (GRCm39)	D108G	probably damaging	Het
Trip11	T	A	12: 101,850,651 (GRCm39)	K853*	probably null	Het
Vmn2r111	A	T	17: 22,788,042 (GRCm39)	D436E	probably benign	Het
Zfp704	A	T	3: 9,536,099 (GRCm39)	S140R	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
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
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'- ATGACCGTTTCGTGCCTTGCTG -3'
(R):5'- ATCATTATGAACCGCTGGGCTCTG -3'

Sequencing Primer
(F):5'- TGCTACAGCTTCGAGAACTG -3'
(R):5'- CTGGGGAACTTAGCCTGTGAC -3'

Posted On

2014-04-24