Mutagenetix > Incidental Mutation

Incidental Mutation 'R1972:Chrm4'

221029

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

039985-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91757594-91759033 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91757838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 82 (A82V)

Ref Sequence

ENSEMBL: ENSMUSP00000040808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028672] [ENSMUST00000045537] [ENSMUST00000069423] [ENSMUST00000090602] [ENSMUST00000111309]

AlphaFold

P32211

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: A82V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000040808
Gene: ENSMUSG00000040495
AA Change: A82V

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: 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

Meta Mutation Damage Score

0.0705

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (77/77)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 112,717,050 (GRCm39)		probably benign	Het
Bbs2	A	G	8: 94,807,805 (GRCm39)		probably benign	Het
Bcl9	A	C	3: 97,114,518 (GRCm39)	D1035E	probably damaging	Het
Bmpr2	A	G	1: 59,852,762 (GRCm39)	E31G	possibly damaging	Het
Borcs5	A	G	6: 134,687,137 (GRCm39)	D164G	probably damaging	Het
Cap2	A	G	13: 46,791,375 (GRCm39)	R181G	probably damaging	Het
Ccdc113	A	T	8: 96,264,874 (GRCm39)	H128L	probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Chat	C	T	14: 32,146,148 (GRCm39)	V342I	probably benign	Het
Cyp2d22	A	T	15: 82,260,028 (GRCm39)	M52K	probably benign	Het
Dennd2c	T	C	3: 103,039,014 (GRCm39)	V54A	probably benign	Het
Dgka	C	T	10: 128,556,335 (GRCm39)	G717D	probably damaging	Het
Dnah1	C	T	14: 30,987,348 (GRCm39)	W3550*	probably null	Het
Eif2ak1	A	G	5: 143,821,532 (GRCm39)	T283A	probably benign	Het
Entrep2	A	T	7: 64,425,516 (GRCm39)	I192N	possibly damaging	Het
Fcgbp	A	T	7: 27,793,617 (GRCm39)	Y1173F	probably benign	Het
Flt1	G	A	5: 147,591,903 (GRCm39)		probably benign	Het
Gpr149	T	C	3: 62,438,216 (GRCm39)	K647R	probably benign	Het
Gsdma2	T	C	11: 98,541,744 (GRCm39)	V157A	probably benign	Het
Heatr4	T	A	12: 84,001,794 (GRCm39)	I884F	probably damaging	Het
Ift56	C	A	6: 38,387,738 (GRCm39)	N396K	probably benign	Het
Il17ra	A	G	6: 120,459,177 (GRCm39)	E776G	probably benign	Het
Inpp5d	T	C	1: 87,604,036 (GRCm39)	S235P	probably benign	Het
Iqgap3	T	A	3: 87,991,235 (GRCm39)		probably null	Het
Isoc2a	T	A	7: 4,895,086 (GRCm39)	D171E	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kcnk12	T	C	17: 88,104,560 (GRCm39)	D108G	possibly damaging	Het
Klra9	A	T	6: 130,159,345 (GRCm39)		probably null	Het
Lgmn	A	G	12: 102,362,080 (GRCm39)		probably benign	Het
Morf4l1	A	T	9: 89,977,267 (GRCm39)		probably benign	Het
Mthfr	T	C	4: 148,136,384 (GRCm39)	I380T	probably damaging	Het
Mybpc1	T	C	10: 88,387,404 (GRCm39)	I436V	probably benign	Het
Naip5	A	G	13: 100,349,278 (GRCm39)	V1350A	probably damaging	Het
Neil2	A	T	14: 63,423,526 (GRCm39)	C36S	possibly damaging	Het
Nlrx1	A	G	9: 44,164,753 (GRCm39)	V897A	probably benign	Het
Nod2	A	T	8: 89,379,501 (GRCm39)	M8L	probably damaging	Het
Nop2	A	G	6: 125,111,602 (GRCm39)	T112A	probably benign	Het
Nrap	T	A	19: 56,345,785 (GRCm39)	T608S	probably damaging	Het
Nuak2	A	T	1: 132,258,340 (GRCm39)	H257L	probably damaging	Het
Or10x1	T	C	1: 174,197,136 (GRCm39)	F218L	probably benign	Het
Or2ag12	T	C	7: 106,277,426 (GRCm39)	D89G	probably benign	Het
Or4c113	A	T	2: 88,884,891 (GRCm39)	M293K	probably benign	Het
Or52e8	T	C	7: 104,625,106 (GRCm39)	I33V	possibly damaging	Het
Or5ac25	A	T	16: 59,182,476 (GRCm39)	V35D	probably damaging	Het
Or5b119	T	C	19: 13,457,058 (GRCm39)	N168S	probably benign	Het
Or8b40	T	A	9: 38,027,863 (GRCm39)	M257K	possibly damaging	Het
Pde1a	T	C	2: 79,696,065 (GRCm39)	E358G	probably damaging	Het
Pdlim1	A	T	19: 40,211,581 (GRCm39)	S237R	probably damaging	Het
Pithd1	T	C	4: 135,714,340 (GRCm39)	D36G	probably damaging	Het
Ppp2r3d	A	G	9: 101,088,976 (GRCm39)	F449S	probably benign	Het
Prr11	G	A	11: 86,989,580 (GRCm39)	R264C	possibly damaging	Het
Rbm43	A	T	2: 51,815,548 (GRCm39)	H224Q	probably benign	Het
Rfx5	C	T	3: 94,864,603 (GRCm39)	L250F	probably damaging	Het
Rgs22	T	A	15: 36,103,982 (GRCm39)	I160L	probably benign	Het
Rorb	T	A	19: 18,929,567 (GRCm39)	Q393H	probably damaging	Het
Rpl13a	T	A	7: 44,775,419 (GRCm39)	K368*	probably null	Het
Scaf8	T	G	17: 3,219,646 (GRCm39)	S276R	unknown	Het
Scube2	A	T	7: 109,408,421 (GRCm39)	N675K	probably benign	Het
Sec22c	A	T	9: 121,517,320 (GRCm39)	M126K	possibly damaging	Het
Serpinb11	T	C	1: 107,297,210 (GRCm39)	F29L	probably damaging	Het
Sis	A	G	3: 72,828,337 (GRCm39)	F1217S	probably damaging	Het
Slc18a2	A	G	19: 59,263,085 (GRCm39)	D294G	possibly damaging	Het
Slc9c1	A	G	16: 45,413,835 (GRCm39)	T988A	possibly damaging	Het
Smndc1	A	C	19: 53,371,986 (GRCm39)		probably null	Het
Sned1	G	A	1: 93,192,795 (GRCm39)	G361S	probably damaging	Het
Spatc1	A	T	15: 76,169,075 (GRCm39)		probably null	Het
Stab2	A	T	10: 86,796,180 (GRCm39)	C356S	probably damaging	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tbc1d30	A	T	10: 121,142,135 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,681,626 (GRCm39)	E2668G	probably damaging	Het
Tigar	A	G	6: 127,064,889 (GRCm39)	V253A	possibly damaging	Het
Tmc2	T	A	2: 130,056,584 (GRCm39)		probably benign	Het
Ugt1a10	A	T	1: 87,983,769 (GRCm39)	Y189F	probably damaging	Het
Vmn2r82	A	G	10: 79,214,680 (GRCm39)	D221G	probably damaging	Het
Xkr5	C	T	8: 18,991,997 (GRCm39)	V131M	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
R2233:Chrm4	UTSW	2	91,758,875 (GRCm39)	missense	probably benign	0.01
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'- TCAGCCAATCAGTCTGTGCG -3'
(R):5'- TGCCATCTTAGTAGTGCGGC -3'

Sequencing Primer
(F):5'- AATCAGTCTGTGCGCCTGGTC -3'
(R):5'- TGCGGCGGGCTGGATAG -3'

Posted On

2014-08-25