Mutagenetix > Incidental Mutation

Incidental Mutation 'R8061:Chrm1'

619745

Institutional Source

Beutler Lab

Gene Symbol

Chrm1

Ensembl Gene

ENSMUSG00000032773

Gene Name

cholinergic receptor, muscarinic 1, CNS

Synonyms

Chrm-1, AW495047, M1R, muscarinic acetylcholine receptor 1, M1

MMRRC Submission

067497-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R8061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8641369-8660970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8656518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 408 (Y408H)

Ref Sequence

ENSEMBL: ENSMUSP00000042632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035444] [ENSMUST00000163785] [ENSMUST00000177197]

AlphaFold

P12657

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035444
AA Change: Y408H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042632
Gene: ENSMUSG00000032773
AA Change: Y408H

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	36	227	1.7e-7	PFAM
Pfam:7tm_1	42	418	1.9e-97	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163785
AA Change: Y408H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126103
Gene: ENSMUSG00000032773
AA Change: Y408H

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	36	227	1.7e-7	PFAM
Pfam:7tm_1	42	418	2.9e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177197

SMART Domains

Protein: ENSMUSP00000135356
Gene: ENSMUSG00000032773

Domain	Start	End	E-Value	Type
Pfam:7tm_1	42	74	1.6e-9	PFAM

Meta Mutation Damage Score

0.7027

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (70/70)

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 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit resistance to pilocarpine-induced seizures, selective memory deficits, elevated dopaminergic transmission in the striatum, and increased spontaneous and amphetamine-induced locomotion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	G	A	5: 115,255,710 (GRCm39)	R42C	probably benign	Het
Agrn	G	A	4: 156,263,411 (GRCm39)	R338C	probably damaging	Het
Anapc1	T	C	2: 128,490,408 (GRCm39)	E1008G	probably damaging	Het
Art5	A	T	7: 101,747,456 (GRCm39)	Y108N	possibly damaging	Het
As3mt	G	A	19: 46,728,982 (GRCm39)	C369Y	probably damaging	Het
Asb3	A	G	11: 30,948,447 (GRCm39)	N41S	probably damaging	Het
Astn1	G	A	1: 158,331,920 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,300 (GRCm39)	M1770K	possibly damaging	Het
Atp8b2	T	C	3: 89,853,527 (GRCm39)		probably benign	Het
Cfap300	A	G	9: 8,042,672 (GRCm39)	W37R	probably damaging	Het
Chst2	T	C	9: 95,287,224 (GRCm39)	H374R	probably damaging	Het
Cnot1	A	G	8: 96,491,655 (GRCm39)	F390L	possibly damaging	Het
Comt	T	C	16: 18,230,040 (GRCm39)	Y100C	probably benign	Het
Cyria	G	T	12: 12,412,028 (GRCm39)	A150S	possibly damaging	Het
Dclk2	T	C	3: 86,720,981 (GRCm39)		probably benign	Het
Dicer1	G	A	12: 104,669,077 (GRCm39)	Q1202*	probably null	Het
Disp1	C	T	1: 182,869,151 (GRCm39)	V1090M	probably damaging	Het
Dnajc28	T	C	16: 91,414,058 (GRCm39)	D62G	possibly damaging	Het
Dock1	C	T	7: 134,374,052 (GRCm39)	T566I	probably benign	Het
Dop1a	T	G	9: 86,403,246 (GRCm39)	M18R	possibly damaging	Het
Dop1b	T	C	16: 93,546,884 (GRCm39)	L296P	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab3	A	T	11: 104,997,275 (GRCm39)	D155V	probably benign	Het
Ehmt2	T	C	17: 35,124,903 (GRCm39)	S465P	possibly damaging	Het
Eno1b	G	A	18: 48,180,725 (GRCm39)	W301*	probably null	Het
Fpgt	A	G	3: 154,792,903 (GRCm39)	S375P	probably benign	Het
Gas2l1	G	A	11: 5,011,785 (GRCm39)	S348F	possibly damaging	Het
Gen1	A	T	12: 11,311,077 (GRCm39)		probably benign	Het
Ice1	A	T	13: 70,751,851 (GRCm39)	C1412S	probably damaging	Het
Iqcn	A	G	8: 71,161,224 (GRCm39)	E139G	probably benign	Het
Klhl2	A	C	8: 65,211,257 (GRCm39)	L264V	probably damaging	Het
Lars2	A	G	9: 123,288,562 (GRCm39)	T803A	probably benign	Het
Ldb2	T	A	5: 44,637,612 (GRCm39)	K232M	probably damaging	Het
Lix1	G	A	17: 17,663,938 (GRCm39)	R92Q	probably damaging	Het
Meig1	C	T	2: 3,410,240 (GRCm39)	V87I	not run	Het
Mitf	A	C	6: 97,970,259 (GRCm39)	S176R	probably damaging	Het
Myh7	A	G	14: 55,228,398 (GRCm39)	V236A	probably benign	Het
Myo5a	T	A	9: 75,030,239 (GRCm39)	Y119*	probably null	Het
Ncapg2	A	G	12: 116,390,197 (GRCm39)	N382S	probably benign	Het
Neu2	C	T	1: 87,524,633 (GRCm39)	P206L	probably damaging	Het
Or2h2b-ps1	A	G	17: 37,480,792 (GRCm39)	F147S	probably damaging	Het
Osbpl5	C	T	7: 143,256,461 (GRCm39)	R454Q	probably benign	Het
Panx1	A	G	9: 14,956,297 (GRCm39)	S13P	possibly damaging	Het
Pde2a	A	G	7: 101,153,179 (GRCm39)	D413G	probably benign	Het
Plcb1	A	T	2: 135,188,316 (GRCm39)	Y803F	probably benign	Het
Prrc2a	T	C	17: 35,380,162 (GRCm39)		probably benign	Het
Pth2r	T	A	1: 65,382,660 (GRCm39)	Y143N	possibly damaging	Het
Ptpn4	C	T	1: 119,619,330 (GRCm39)		probably null	Het
Rapgef3	T	C	15: 97,659,401 (GRCm39)	Y112C	probably benign	Het
Rusc2	A	G	4: 43,422,492 (GRCm39)	N907S	probably damaging	Het
Scn7a	T	A	2: 66,522,938 (GRCm39)	N922I	probably damaging	Het
Shprh	T	C	10: 11,088,077 (GRCm39)	V1620A	possibly damaging	Het
Slc25a54	T	A	3: 109,018,361 (GRCm39)	S280R	probably damaging	Het
Slc30a5	T	C	13: 100,965,419 (GRCm39)	I63M	probably damaging	Het
Smg1	A	T	7: 117,751,610 (GRCm39)	V2817E	unknown	Het
Sprr3	T	C	3: 92,364,184 (GRCm39)	E220G	probably damaging	Het
Tcf21	T	C	10: 22,695,762 (GRCm39)	E14G	probably benign	Het
Tenm4	A	G	7: 96,501,663 (GRCm39)	D1289G	probably damaging	Het
Tmem121b	C	A	6: 120,469,064 (GRCm39)	G551V	probably damaging	Het
Tpk1	A	G	6: 43,323,778 (GRCm39)	S224P	probably damaging	Het
Trib1	T	C	15: 59,523,404 (GRCm39)	I146T	probably damaging	Het
Ttc32	T	A	12: 9,084,953 (GRCm39)	Y58N	probably damaging	Het
Vcan	T	A	13: 89,805,409 (GRCm39)	I3336L	probably benign	Het
Vmn1r200	C	A	13: 22,579,453 (GRCm39)	Y85*	probably null	Het
Vps39	T	C	2: 120,174,692 (GRCm39)	I97V	probably benign	Het
Zan	T	A	5: 137,434,893 (GRCm39)	I2167F	unknown	Het
Zfp37	A	T	4: 62,109,665 (GRCm39)	Y507*	probably null	Het
Zfp39	A	G	11: 58,793,573 (GRCm39)	V55A	probably benign	Het
Zfp616	A	T	11: 73,974,340 (GRCm39)	N294I	possibly damaging	Het
Zfp729a	T	C	13: 67,768,208 (GRCm39)	T674A	probably benign	Het

Other mutations in Chrm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00466:Chrm1	APN	19	8,655,438 (GRCm39)	missense	probably benign	0.01
IGL01633:Chrm1	APN	19	8,655,859 (GRCm39)	missense	probably benign	0.29
IGL01824:Chrm1	APN	19	8,656,494 (GRCm39)	missense	probably damaging	0.98
IGL02539:Chrm1	APN	19	8,655,675 (GRCm39)	missense	probably damaging	1.00
IGL03342:Chrm1	APN	19	8,656,672 (GRCm39)	missense	probably benign	0.33
Flystone	UTSW	19	8,656,518 (GRCm39)	missense	possibly damaging	0.93
R1660:Chrm1	UTSW	19	8,656,582 (GRCm39)	missense	possibly damaging	0.53
R1942:Chrm1	UTSW	19	8,655,637 (GRCm39)	missense	probably damaging	0.99
R2208:Chrm1	UTSW	19	8,655,463 (GRCm39)	missense	probably damaging	1.00
R6466:Chrm1	UTSW	19	8,655,542 (GRCm39)	nonsense	probably null
R6535:Chrm1	UTSW	19	8,656,437 (GRCm39)	missense	possibly damaging	0.93
R6720:Chrm1	UTSW	19	8,655,912 (GRCm39)	missense	probably benign	0.00
R8262:Chrm1	UTSW	19	8,656,453 (GRCm39)	missense	probably damaging	0.98
R9004:Chrm1	UTSW	19	8,655,909 (GRCm39)	missense	possibly damaging	0.88
R9443:Chrm1	UTSW	19	8,655,550 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TGGCCAAGAGAAAGACCTTC -3'
(R):5'- AAGATGCAGCCCATTTTCCGG -3'

Sequencing Primer
(F):5'- CCTTCTCACTGGTCAAGGAGAAG -3'
(R):5'- GGACACTTTCCACCGGC -3'

Posted On

2020-01-23