Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02064:Chrm4'

185569

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chrm4

Ensembl Gene

ENSMUSG00000040495

Gene Name

cholinergic receptor, muscarinic 4

Synonyms

Chrm-4, muscarinic acetylcholine receptor 4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02064

Quality Score

Status

Chromosome

Chromosomal Location

91927249-91928688 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91927831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 195 (T195A)

Ref Sequence

ENSEMBL: ENSMUSP00000040808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028667] [ENSMUST00000028672] [ENSMUST00000045537] [ENSMUST00000069423] [ENSMUST00000090602] [ENSMUST00000099709] [ENSMUST00000111303] [ENSMUST00000111309] [ENSMUST00000128152] [ENSMUST00000142231]

AlphaFold

P32211

Predicted Effect

probably benign
Transcript: ENSMUST00000028667

SMART Domains

Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479

Domain	Start	End	E-Value	Type
low complexity region	3	30	N/A	INTRINSIC
low complexity region	66	75	N/A	INTRINSIC
C1	96	153	2.67e-1	SMART
C1	173	231	8.18e-7	SMART
low complexity region	257	274	N/A	INTRINSIC
DAGKc	296	420	4.61e-65	SMART
DAGKa	447	604	2.75e-95	SMART
low complexity region	762	780	N/A	INTRINSIC
ANK	823	853	8.52e-4	SMART
ANK	858	887	2.18e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000028672

SMART Domains

Protein: ENSMUSP00000028672
Gene: ENSMUSG00000027239

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
PTN	34	113	4.2e-53	SMART
low complexity region	120	139	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000045537
AA Change: T195A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040808
Gene: ENSMUSG00000040495
AA Change: T195A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	42	248	5.7e-7	PFAM
Pfam:7tm_1	48	453	5.5e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069423

SMART Domains

Protein: ENSMUSP00000068413
Gene: ENSMUSG00000027239

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
PTN	34	113	4.2e-53	SMART
low complexity region	120	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090602

SMART Domains

Protein: ENSMUSP00000088090
Gene: ENSMUSG00000027239

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
PTN	34	113	4.2e-53	SMART
low complexity region	120	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099709

SMART Domains

Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479

Domain	Start	End	E-Value	Type
low complexity region	2	38	N/A	INTRINSIC
low complexity region	83	92	N/A	INTRINSIC
C1	113	170	2.67e-1	SMART
C1	190	248	8.18e-7	SMART
low complexity region	274	291	N/A	INTRINSIC
DAGKc	313	437	4.61e-65	SMART
DAGKa	464	621	2.75e-95	SMART
low complexity region	779	797	N/A	INTRINSIC
ANK	840	870	8.52e-4	SMART
ANK	875	904	2.18e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111303

SMART Domains

Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479

Domain	Start	End	E-Value	Type
low complexity region	39	58	N/A	INTRINSIC
low complexity region	66	81	N/A	INTRINSIC
low complexity region	100	113	N/A	INTRINSIC
low complexity region	118	133	N/A	INTRINSIC
low complexity region	200	214	N/A	INTRINSIC
low complexity region	260	269	N/A	INTRINSIC
C1	290	347	2.67e-1	SMART
C1	367	425	8.18e-7	SMART
low complexity region	451	468	N/A	INTRINSIC
DAGKc	490	614	4.61e-65	SMART
DAGKa	641	798	2.75e-95	SMART
low complexity region	956	974	N/A	INTRINSIC
ANK	1017	1047	8.52e-4	SMART
ANK	1052	1081	2.18e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111309

SMART Domains

Protein: ENSMUSP00000106941
Gene: ENSMUSG00000027239

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
PTN	34	113	4.2e-53	SMART
low complexity region	120	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128152

SMART Domains

Protein: ENSMUSP00000118684
Gene: ENSMUSG00000040479

Domain	Start	End	E-Value	Type
low complexity region	32	41	N/A	INTRINSIC
Blast:C1	62	114	9e-33	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000142231

SMART Domains

Protein: ENSMUSP00000114740
Gene: ENSMUSG00000040479

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC

Coding Region Coverage

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 clinical implications of this receptor are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show decreased body weight, hyperactivity, abnormalities in carbamylcholine-induced bradycardia and gallbladder contractility, and altered CNS synaptic transmission. Mice homozygous for a different null allele show loss of the anti-cataleptic effect of scopolamine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732456N10Rik	T	C	15: 101,562,653	H58R	possibly damaging	Het
Acap2	A	C	16: 31,127,328	W284G	probably damaging	Het
Acsf3	T	C	8: 122,780,247	L93P	possibly damaging	Het
Agbl2	G	T	2: 90,784,024		probably benign	Het
Arap3	C	T	18: 37,991,701	G242D	probably damaging	Het
Asxl3	G	A	18: 22,524,344	V1804I	possibly damaging	Het
BC025446	A	G	15: 75,221,656		probably benign	Het
Bnc1	C	A	7: 81,973,503	V659L	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Car9	A	G	4: 43,507,363	E103G	probably benign	Het
Cldn10	T	C	14: 118,855,012	I8T	probably damaging	Het
Col12a1	G	A	9: 79,692,372	S833F	probably benign	Het
Cryba2	T	A	1: 74,890,561	D139V	possibly damaging	Het
Emp1	T	A	6: 135,377,212	M1K	probably null	Het
Exosc4	C	A	15: 76,329,636	A220E	probably damaging	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fryl	A	G	5: 73,124,769		probably benign	Het
Gm8298	T	C	3: 59,877,042	L312P	probably damaging	Het
Grid2	C	T	6: 64,063,935	T287I	probably benign	Het
Grifin	C	T	5: 140,564,739	A7T	probably damaging	Het
Gzmg	T	C	14: 56,157,341	K157E	probably benign	Het
Kcnq2	A	T	2: 181,109,026	I340N	probably damaging	Het
Klrb1	T	A	6: 128,710,637	H98L	probably benign	Het
Krtap5-2	C	A	7: 142,175,731	G71C	unknown	Het
Krtap7-1	A	T	16: 89,508,123	M47K	probably benign	Het
Lmntd1	T	A	6: 145,427,276		probably null	Het
Musk	A	G	4: 58,286,128	N6S	possibly damaging	Het
Olfr169	A	G	16: 19,566,548	C112R	probably damaging	Het
Olfr33	A	G	7: 102,713,601	F271L	probably damaging	Het
Olfr482	T	G	7: 108,095,247	T108P	probably benign	Het
Olfr682-ps1	A	T	7: 105,127,034	F89Y	possibly damaging	Het
Olfr893	T	A	9: 38,209,578	I122N	probably damaging	Het
Pcdh19	A	G	X: 133,685,970	M432T	probably benign	Het
Prdm1	A	G	10: 44,441,342	F495S	probably damaging	Het
Prkar2a	T	C	9: 108,733,204	Y211H	possibly damaging	Het
Ralgapa1	C	A	12: 55,708,077	G1143V	probably damaging	Het
Rbbp7	A	G	X: 162,769,787		probably null	Het
Scel	C	A	14: 103,533,326	H65Q	probably damaging	Het
Sec24d	T	C	3: 123,343,814		probably benign	Het
Sfswap	C	A	5: 129,560,796	T839N	probably benign	Het
Slc15a1	T	C	14: 121,462,499	I636V	possibly damaging	Het
Slc15a1	G	T	14: 121,462,474	P644H	probably benign	Het
Slc6a21	T	A	7: 45,286,459	I38N	possibly damaging	Het
Sucla2	C	T	14: 73,579,473	Q218*	probably null	Het
Tbc1d14	A	T	5: 36,507,675	L237*	probably null	Het
Trpm7	C	T	2: 126,797,943	E1578K	probably damaging	Het
Ttc17	G	A	2: 94,330,667	T896I	probably damaging	Het
Virma	A	G	4: 11,513,163	D339G	possibly damaging	Het
Vmn2r54	T	A	7: 12,615,606	Y683F	probably benign	Het
Xrra1	T	A	7: 99,914,204	L466Q	probably damaging	Het

Other mutations in Chrm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0437:Chrm4	UTSW	2	91928443	missense	possibly damaging	0.89
R0755:Chrm4	UTSW	2	91928402	missense	probably benign	0.02
R1972:Chrm4	UTSW	2	91927493	missense	probably benign	0.00
R2233:Chrm4	UTSW	2	91928530	missense	probably benign	0.01
R2235:Chrm4	UTSW	2	91928530	missense	probably benign	0.01
R2902:Chrm4	UTSW	2	91927957	missense	probably benign	0.00
R3115:Chrm4	UTSW	2	91927360	missense	probably benign	0.06
R3907:Chrm4	UTSW	2	91927739	missense	probably damaging	0.98
R4839:Chrm4	UTSW	2	91927607	missense	probably damaging	1.00
R7033:Chrm4	UTSW	2	91928347	missense	probably benign	0.01
R7242:Chrm4	UTSW	2	91927250	start codon destroyed	probably null	0.86
R7707:Chrm4	UTSW	2	91927354	missense	probably benign	0.01
R8066:Chrm4	UTSW	2	91927697	missense	probably damaging	1.00
R8076:Chrm4	UTSW	2	91927859	missense	probably damaging	1.00
R8293:Chrm4	UTSW	2	91928218	missense	probably benign	0.00
R8784:Chrm4	UTSW	2	91927688	missense	probably benign	0.16
R9007:Chrm4	UTSW	2	91927730	missense	possibly damaging	0.68
R9113:Chrm4	UTSW	2	91927730	missense	probably benign	0.28

Posted On

2014-05-07