Mutagenetix > Incidental Mutation

Incidental Mutation 'R2233:Chrm4'

240157

Institutional Source

Beutler Lab

Gene Symbol

Chrm4

Ensembl Gene

ENSMUSG00000040495

Gene Name

cholinergic receptor, muscarinic 4

Synonyms

Chrm-4, muscarinic acetylcholine receptor 4

MMRRC Submission

040234-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2233 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91757594-91759033 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91758875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 428 (S428G)

Ref Sequence

ENSEMBL: ENSMUSP00000040808 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000045537
AA Change: S428G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000040808
Gene: ENSMUSG00000040495
AA Change: S428G

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

noncoding transcript
Transcript: ENSMUST00000138894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134103

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

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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,584,671 (GRCm39)	I360V	probably benign	Het
Adarb1	A	G	10: 77,153,183 (GRCm39)	V322A	probably damaging	Het
Atad2b	T	G	12: 5,056,745 (GRCm39)	F867C	probably damaging	Het
Ccdc24	T	C	4: 117,727,113 (GRCm39)	K79R	possibly damaging	Het
Cfap44	A	G	16: 44,271,888 (GRCm39)	I1214V	probably benign	Het
Chrnb1	A	T	11: 69,686,428 (GRCm39)	I64N	probably damaging	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Dazap1	A	G	10: 80,113,433 (GRCm39)	K110E	possibly damaging	Het
Dhx16	T	C	17: 36,198,778 (GRCm39)	C737R	probably damaging	Het
Dst	A	G	1: 34,313,343 (GRCm39)	E6384G	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
E2f4	T	A	8: 106,025,283 (GRCm39)	V121E	probably damaging	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fezf1	T	C	6: 23,246,002 (GRCm39)	T388A	probably damaging	Het
Gimap6	T	A	6: 48,681,418 (GRCm39)	H72L	possibly damaging	Het
Gm11149	A	G	9: 49,473,446 (GRCm39)		probably benign	Het
Gm12695	C	T	4: 96,612,266 (GRCm39)	R499Q	probably damaging	Het
Grhl1	A	G	12: 24,658,510 (GRCm39)	D385G	probably damaging	Het
Hyou1	C	T	9: 44,300,388 (GRCm39)	T855M	probably benign	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Kcnab1	T	A	3: 65,226,888 (GRCm39)	V189D	probably damaging	Het
Kifap3	T	A	1: 163,683,634 (GRCm39)	D438E	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc41	G	A	4: 115,953,582 (GRCm39)	R756Q	possibly damaging	Het
Lrrc49	A	T	9: 60,505,440 (GRCm39)	F538L	possibly damaging	Het
Nphp3	G	A	9: 103,914,575 (GRCm39)	R1052H	probably benign	Het
Nynrin	G	A	14: 56,109,524 (GRCm39)	V1544I	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Or9m1	G	A	2: 87,733,819 (GRCm39)	S67F	probably damaging	Het
Osbpl6	T	C	2: 76,417,113 (GRCm39)	F577L	probably damaging	Het
Otc	A	G	X: 10,169,606 (GRCm39)	Q216R	probably benign	Het
Ppp1r12a	A	G	10: 108,034,780 (GRCm39)	I108M	possibly damaging	Het
Prl7a1	C	A	13: 27,826,402 (GRCm39)		probably null	Het
Prss16	T	C	13: 22,193,579 (GRCm39)	D72G	possibly damaging	Het
Qrsl1	T	C	10: 43,772,092 (GRCm39)	K33E	probably benign	Het
Rabepk	A	T	2: 34,685,246 (GRCm39)	I58N	possibly damaging	Het
Ralgapa1	A	T	12: 55,763,856 (GRCm39)	H1403Q	probably benign	Het
Rhobtb3	C	A	13: 76,020,484 (GRCm39)	C606F	possibly damaging	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scap	T	C	9: 110,210,661 (GRCm39)	C998R	probably damaging	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,086,085 (GRCm39)	Y502C	probably damaging	Het
Sf3a2	G	T	10: 80,638,663 (GRCm39)	A95S	probably benign	Het
Sis	A	T	3: 72,820,527 (GRCm39)	F1412L	probably benign	Het
Slc25a29	A	T	12: 108,801,587 (GRCm39)	C9S	possibly damaging	Het
Snap91	T	C	9: 86,680,624 (GRCm39)	T427A	probably benign	Het
St3gal6	A	G	16: 58,293,897 (GRCm39)	F211L	probably damaging	Het
Stab1	G	A	14: 30,883,837 (GRCm39)	S240F	probably benign	Het
Sun3	T	A	11: 8,973,371 (GRCm39)	K109*	probably null	Het
Syne1	T	C	10: 4,991,484 (GRCm39)	N8410S	probably benign	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Tmem135	T	C	7: 88,803,282 (GRCm39)	N297S	probably damaging	Het
Tnk1	C	T	11: 69,746,017 (GRCm39)		probably null	Het
Txnl4b	A	G	8: 110,295,551 (GRCm39)		probably benign	Het
Uck1	T	C	2: 32,148,315 (GRCm39)	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Xylt2	C	T	11: 94,560,822 (GRCm39)	V239M	possibly damaging	Het
Zmpste24	T	C	4: 120,955,162 (GRCm39)	D12G	probably benign	Het
Zscan25	A	G	5: 145,220,502 (GRCm39)	Y99C	probably damaging	Het

Other mutations in Chrm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02064:Chrm4	APN	2	91,758,176 (GRCm39)	missense	probably damaging	1.00
R0437:Chrm4	UTSW	2	91,758,788 (GRCm39)	missense	possibly damaging	0.89
R0755:Chrm4	UTSW	2	91,758,747 (GRCm39)	missense	probably benign	0.02
R1972:Chrm4	UTSW	2	91,757,838 (GRCm39)	missense	probably benign	0.00
R2235:Chrm4	UTSW	2	91,758,875 (GRCm39)	missense	probably benign	0.01
R2902:Chrm4	UTSW	2	91,758,302 (GRCm39)	missense	probably benign	0.00
R3115:Chrm4	UTSW	2	91,757,705 (GRCm39)	missense	probably benign	0.06
R3907:Chrm4	UTSW	2	91,758,084 (GRCm39)	missense	probably damaging	0.98
R4839:Chrm4	UTSW	2	91,757,952 (GRCm39)	missense	probably damaging	1.00
R7033:Chrm4	UTSW	2	91,758,692 (GRCm39)	missense	probably benign	0.01
R7242:Chrm4	UTSW	2	91,757,595 (GRCm39)	start codon destroyed	probably null	0.86
R7707:Chrm4	UTSW	2	91,757,699 (GRCm39)	missense	probably benign	0.01
R8066:Chrm4	UTSW	2	91,758,042 (GRCm39)	missense	probably damaging	1.00
R8076:Chrm4	UTSW	2	91,758,204 (GRCm39)	missense	probably damaging	1.00
R8293:Chrm4	UTSW	2	91,758,563 (GRCm39)	missense	probably benign	0.00
R8784:Chrm4	UTSW	2	91,758,033 (GRCm39)	missense	probably benign	0.16
R9007:Chrm4	UTSW	2	91,758,075 (GRCm39)	missense	possibly damaging	0.68
R9113:Chrm4	UTSW	2	91,758,075 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- ATCGAGATCGTACCTGCCAC -3'
(R):5'- GGTACACACTCTTGACACCAGC -3'

Sequencing Primer
(F):5'- ATCGTACCTGCCACGCCAG -3'
(R):5'- TCTTGACACCAGCACCTCCTAAG -3'

Posted On

2014-10-15