Mutagenetix > Incidental Mutation

Incidental Mutation 'R8453:Chrm3'

654882

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

067904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R8453 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9875486-10360847 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 9877231 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Lysine at position 590 (*590K)

Ref Sequence

ENSEMBL: ENSMUSP00000140131 (fasta)

Gene Model

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

AlphaFold

Q9ERZ3

Predicted Effect

probably null
Transcript: ENSMUST00000063093
AA Change: *590K

SMART Domains

Protein: ENSMUSP00000055579
Gene: ENSMUSG00000046159
AA Change: *590K

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 null
Transcript: ENSMUST00000187510
AA Change: *590K

SMART Domains

Protein: ENSMUSP00000140131
Gene: ENSMUSG00000046159
AA Change: *590K

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (68/68)

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
5830473C10Rik	A	T	5: 90,566,501	R123S	possibly damaging	Het
8030462N17Rik	T	C	18: 77,673,908	E236G	probably damaging	Het
9630041A04Rik	G	T	9: 101,938,685	C23F	possibly damaging	Het
Adam29	T	C	8: 55,873,161	H86R	possibly damaging	Het
Alas1	C	T	9: 106,236,522	R508Q	possibly damaging	Het
Bmp3	G	A	5: 98,855,423		probably null	Het
Bud13	A	G	9: 46,288,201	T287A	probably benign	Het
C3	T	C	17: 57,212,643	E1203G	probably benign	Het
Carmil2	A	C	8: 105,690,211	Q476P	probably damaging	Het
Ccdc187	T	A	2: 26,276,446	T707S	probably damaging	Het
Cfap43	A	T	19: 47,746,647	V1435E	probably damaging	Het
Commd1	C	T	11: 22,978,503		probably benign	Het
Creb3l1	A	T	2: 91,990,929	Y314*	probably null	Het
Ctc1	T	A	11: 69,022,449	S90R	probably benign	Het
Dixdc1	T	C	9: 50,684,886	Q413R	probably benign	Het
Dlg5	T	C	14: 24,158,145	T998A	probably benign	Het
Fam89b	A	G	19: 5,728,875	S99P	possibly damaging	Het
Fbxo30	A	G	10: 11,290,735	I400M	probably benign	Het
Gad1	A	T	2: 70,600,713	M567L	probably benign	Het
Gemin5	T	C	11: 58,125,239	S1314G	probably benign	Het
Gm2035	C	T	12: 87,919,553	S102N	probably benign	Het
Gm9195	T	G	14: 72,440,761	I2323L	probably benign	Het
Gria1	T	A	11: 57,243,051	F585L	probably damaging	Het
Hbs1l	A	T	10: 21,309,279	H200L	probably benign	Het
Igsf5	A	G	16: 96,421,796	Q360R	probably benign	Het
Il31ra	A	T	13: 112,524,183	V624E	probably damaging	Het
Iqsec3	T	C	6: 121,387,820	R837G	probably damaging	Het
Lpl	A	G	8: 68,895,781	I221V	probably damaging	Het
Mcf2l	T	C	8: 12,984,956		probably null	Het
Mink1	T	A	11: 70,610,328	D887E	possibly damaging	Het
Mmp10	T	G	9: 7,508,202	F443C	probably damaging	Het
Mmrn1	T	A	6: 60,988,377	Y1131N	probably damaging	Het
Mrc2	T	A	11: 105,332,311	V460E	probably damaging	Het
Nicn1	T	A	9: 108,293,373	F57Y	probably damaging	Het
Nlrp4b	A	G	7: 10,715,601	Y577C	probably damaging	Het
Nrap	T	C	19: 56,323,920	T1535A	probably damaging	Het
Opa1	G	A	16: 29,620,868	R755H	probably damaging	Het
P4htm	C	T	9: 108,580,367		probably benign	Het
Phldb2	A	G	16: 45,825,022	S354P	probably benign	Het
Phykpl	T	C	11: 51,598,294	S316P	probably damaging	Het
Pnpla1	T	A	17: 28,858,899	D11E	probably benign	Het
Pold2	A	G	11: 5,875,104	F98L	probably damaging	Het
Prph	G	A	15: 99,056,776	R241Q	probably benign	Het
Rcl1	T	C	19: 29,115,759	I58T	possibly damaging	Het
Rps6ka2	A	G	17: 7,246,752	N117D	probably benign	Het
Sars	G	A	3: 108,428,713	S331L	probably benign	Het
Scfd1	A	C	12: 51,412,591	K312Q	possibly damaging	Het
Senp5	A	G	16: 31,989,348	C363R	probably benign	Het
Senp7	A	G	16: 56,188,328	I1024V	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sptbn4	A	G	7: 27,404,238	L1191P	probably damaging	Het
Ssfa2	T	C	2: 79,644,785	S363P	probably benign	Het
Stk40	A	G	4: 126,128,973	E180G	probably damaging	Het
Stxbp5	A	T	10: 9,809,048	V536E	probably benign	Het
Suco	A	T	1: 161,823,017		probably benign	Het
Tex15	G	T	8: 33,576,871	E2110*	probably null	Het
Thbs4	G	A	13: 92,790,817	P55S	probably benign	Het
Tmem115	T	C	9: 107,534,798	V107A	probably benign	Het
Tnfaip6	A	C	2: 52,055,867	I242L	probably benign	Het
Trabd	G	T	15: 89,085,413	A270S	possibly damaging	Het
Trim30d	T	A	7: 104,487,740	I86F	probably damaging	Het
Trpc7	A	G	13: 56,822,559	V404A	probably benign	Het
Vmn1r61	A	G	7: 5,610,887	Y143H	probably benign	Het
Vmn2r18	T	A	5: 151,561,908	D707V	probably damaging	Het
Vnn3	G	A	10: 23,869,545	R464H	probably benign	Het
Wdr27	T	C	17: 14,892,489	T652A	probably benign	Het
Wdr78	A	G	4: 103,059,916	I577T	possibly damaging	Het
Yeats2	C	T	16: 20,222,887	R1176*	probably null	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
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
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'- TGGCATTGGACCAAAATCAGG -3'
(R):5'- TCTGTGACAGCTGCATACCC -3'

Sequencing Primer
(F):5'- GGCATTGGACCAAAATCAGGTATTC -3'
(R):5'- GCTACTGGCTGTGCTATATCAACAG -3'

Posted On

2020-10-20