Mutagenetix > Incidental Mutations

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, Chrm-3, M3R

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R7135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9875486-10360847 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9877801 bp

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]

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
1700016G14Rik	T	C	13: 24,741,506	S78P	probably benign	Het
Aars2	T	A	17: 45,508,961	Y221*	probably null	Het
AC166344.1	T	A	14: 43,300,788	F97I		Het
Ankmy2	T	C	12: 36,196,312	S412P	probably benign	Het
Ap1s3	T	C	1: 79,609,202	T144A	probably benign	Het
Asb3	T	A	11: 30,998,501	L59*	probably null	Het
Asxl3	G	T	18: 22,517,701	G916*	probably null	Het
Asxl3	G	C	18: 22,517,702	G916A	probably damaging	Het
Birc2	A	C	9: 7,818,761	F610V	probably damaging	Het
Camk4	G	A	18: 33,107,943		probably null	Het
Ccdc162	A	G	10: 41,673,859	S343P	probably benign	Het
Ccnk	T	A	12: 108,186,475	L17Q	probably damaging	Het
Cd59b	G	A	2: 104,084,447	W63*	probably null	Het
Crb1	C	A	1: 139,243,367	V762F	probably damaging	Het
Cspp1	C	T	1: 10,088,936	T529I	possibly damaging	Het
Cttnbp2	A	G	6: 18,448,447	I71T	possibly damaging	Het
Cyb561	C	A	11: 105,935,567	G90V	probably damaging	Het
Cyld	T	A	8: 88,744,892	D804E	possibly damaging	Het
Ddx31	G	A	2: 28,848,306	V160I	probably benign	Het
Dgkg	T	C	16: 22,500,382	D643G	probably damaging	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dnah12	T	G	14: 26,801,413	I1953S	probably damaging	Het
Dnah7b	T	C	1: 46,139,710	W848R	probably damaging	Het
Dnah7c	C	T	1: 46,533,208	T947M	probably damaging	Het
Dnmt3c	C	A	2: 153,714,952		probably null	Het
Dsp	A	T	13: 38,179,073	Y443F	probably damaging	Het
Espl1	T	A	15: 102,319,524	C1603*	probably null	Het
Faiml	G	T	9: 99,234,443	R65S	probably benign	Het
Gfpt2	T	C	11: 49,804,955	I4T	probably damaging	Het
Gm10376	T	A	14: 43,010,493	M179L	probably benign	Het
Gm13084	A	T	4: 143,810,663	L366Q	probably damaging	Het
Gm4302	T	A	10: 100,341,727	M291K	unknown	Het
Gm8906	C	T	5: 11,505,231	P83S	probably damaging	Het
Gnb1l	T	A	16: 18,545,168	D154E	probably benign	Het
Igkv10-94	T	C	6: 68,704,743	R38G	possibly damaging	Het
Inmt	A	T	6: 55,171,028	Y205*	probably null	Het
Krba1	A	G	6: 48,416,299	Q1049R	probably benign	Het
Lpxn	T	A	19: 12,833,319	C376S	probably damaging	Het
Lrrc52	T	A	1: 167,466,450	I89F	probably damaging	Het
Map9	A	T	3: 82,363,458	T110S	probably benign	Het
Mccc1	T	C	3: 35,995,818	Y75C	probably damaging	Het
Mff	T	A	1: 82,747,091	L203*	probably null	Het
Micall1	C	A	15: 79,109,424	D47E	unknown	Het
Mink1	T	C	11: 70,603,503	F243S	probably damaging	Het
Mlycd	C	T	8: 119,402,477	R228W	probably damaging	Het
Msr1	A	T	8: 39,589,424	V370E	possibly damaging	Het
Naip6	T	C	13: 100,300,419	E532G	probably damaging	Het
Nepn	G	A	10: 52,391,719	C27Y	probably damaging	Het
Ninl	T	C	2: 150,955,604	H592R	probably benign	Het
Nr4a2	A	G	2: 57,112,249	M64T	possibly damaging	Het
Olfr1279	T	A	2: 111,307,020	F272I	probably benign	Het
Olfr484	T	C	7: 108,124,574	K230E	probably damaging	Het
Oprm1	A	T	10: 6,830,203	I171F	possibly damaging	Het
Pcbp1	A	T	6: 86,525,506	M137K	possibly damaging	Het
Pcf11	A	T	7: 92,657,316	S1215T	probably benign	Het
Pdlim5	A	T	3: 142,311,922		probably null	Het
Pecam1	T	C	11: 106,689,031	I402V	probably damaging	Het
Pex12	T	C	11: 83,297,642	T176A	probably benign	Het
Phf3	T	C	1: 30,831,109	K286R	possibly damaging	Het
Pik3ap1	T	A	19: 41,332,321	D153V	probably damaging	Het
Pkhd1l1	T	A	15: 44,584,978		probably null	Het
Plekhn1	A	G	4: 156,223,335	V378A	probably benign	Het
Ptprm	A	T	17: 66,944,288	D531E	possibly damaging	Het
Pum2	A	T	12: 8,728,952	Q508L	possibly damaging	Het
Rad54l	A	G	4: 116,105,830	S324P	probably damaging	Het
Recql5	C	T	11: 115,930,672		probably null	Het
Reln	A	T	5: 21,976,596	V1763D	possibly damaging	Het
Rp1	T	C	1: 4,348,168	N907S	possibly damaging	Het
Scaf11	T	A	15: 96,420,328	N452Y	possibly damaging	Het
Scgb2b3	T	A	7: 31,360,214	H45L	possibly damaging	Het
Sim1	A	G	10: 50,895,927	T11A	probably damaging	Het
Slc5a12	T	A	2: 110,616,714	M189K	possibly damaging	Het
Slco2b1	C	T	7: 99,695,063	G10S	probably null	Het
Stxbp3	A	G	3: 108,800,755	L410P	probably damaging	Het
Sugct	T	C	13: 17,302,009	N297D	probably benign	Het
Syne1	A	G	10: 5,233,409	I4132T	probably benign	Het
Teddm1b	A	T	1: 153,875,166	L240F	probably damaging	Het
Tlr5	C	A	1: 182,975,523	D797E	possibly damaging	Het
Tmprss13	G	T	9: 45,338,345	G327C	probably damaging	Het
Tnrc18	G	T	5: 142,787,817	A419D		Het
Ttc28	T	C	5: 111,280,007	Y1790H	probably damaging	Het
Vmn1r125	T	G	7: 21,272,402	M75R	probably damaging	Het
Vwa3a	T	A	7: 120,773,030	D276E	possibly damaging	Het
Wdfy3	C	T	5: 101,915,437	V1322M	probably damaging	Het
Wdr11	T	C	7: 129,628,106	S872P	possibly damaging	Het
Zc3h13	T	C	14: 75,321,721	S357P	unknown	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
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
X0066:Chrm3	UTSW	13	9877720	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