Mutagenetix > Incidental Mutation

Incidental Mutation 'R2208:Chrm1'

236803

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

040210-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R2208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8641369-8660970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8655463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 56 (L56P)

Ref Sequence

ENSEMBL: ENSMUSP00000135356 (fasta)

Gene Model

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

AlphaFold

P12657

Predicted Effect

probably damaging
Transcript: ENSMUST00000035444
AA Change: L56P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042632
Gene: ENSMUSG00000032773
AA Change: L56P

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

noncoding transcript
Transcript: ENSMUST00000157205

Predicted Effect

probably damaging
Transcript: ENSMUST00000163785
AA Change: L56P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126103
Gene: ENSMUSG00000032773
AA Change: L56P

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 damaging
Transcript: ENSMUST00000177197
AA Change: L56P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135356
Gene: ENSMUSG00000032773
AA Change: L56P

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

Meta Mutation Damage Score

0.9558

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (51/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,995,096 (GRCm39)	V5460A	probably benign	Het
Bco2	A	G	9: 50,444,755 (GRCm39)	V517A	probably damaging	Het
Brca2	T	A	5: 150,455,809 (GRCm39)	D183E	probably damaging	Het
Ccdc142	T	C	6: 83,084,941 (GRCm39)		probably null	Het
Ccdc39	A	G	3: 33,895,327 (GRCm39)	L34P	probably damaging	Het
Cdc42bpb	T	A	12: 111,302,463 (GRCm39)	H198L	probably damaging	Het
Cdc73	T	A	1: 143,485,120 (GRCm39)	E516V	probably damaging	Het
Cep170b	T	A	12: 112,705,419 (GRCm39)	L1059Q	probably benign	Het
Clec4d	T	A	6: 123,242,314 (GRCm39)	V22D	probably damaging	Het
Cplane1	T	A	15: 8,223,887 (GRCm39)	N883K	probably benign	Het
Cyp2c39	T	C	19: 39,549,405 (GRCm39)	Y308H	possibly damaging	Het
Cyp2d12	T	C	15: 82,441,137 (GRCm39)	L141P	probably damaging	Het
Cyp4x1	G	T	4: 114,983,791 (GRCm39)	Q85K	probably benign	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Enpp7	T	C	11: 118,879,588 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fitm2	T	A	2: 163,314,604 (GRCm39)		probably benign	Het
Gng10	T	A	4: 59,035,314 (GRCm39)	I26N	possibly damaging	Het
Gpr33	C	T	12: 52,070,236 (GRCm39)	V268I	probably benign	Het
Hmcn2	G	A	2: 31,270,309 (GRCm39)	C1182Y	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Krt36	C	T	11: 99,993,765 (GRCm39)	V358M	probably damaging	Het
Lmod3	T	C	6: 97,224,838 (GRCm39)	I328V	probably benign	Het
Lrp8	T	C	4: 107,712,987 (GRCm39)	V580A	probably damaging	Het
Masp2	T	C	4: 148,698,872 (GRCm39)	I651T	probably damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Msi2	A	T	11: 88,480,934 (GRCm39)	S118T	probably damaging	Het
Muc19	T	C	15: 91,755,747 (GRCm39)		noncoding transcript	Het
Nabp1	G	A	1: 51,516,773 (GRCm39)	R32*	probably null	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Nup88	T	C	11: 70,856,545 (GRCm39)	D196G	probably damaging	Het
Or11h4b	T	C	14: 50,919,020 (GRCm39)	I24V	probably benign	Het
Pax1	T	A	2: 147,207,722 (GRCm39)	I198N	probably damaging	Het
Pde3a	A	G	6: 141,196,073 (GRCm39)	E253G	probably damaging	Het
Phldb1	C	T	9: 44,607,428 (GRCm39)	R1192Q	probably damaging	Het
Pianp	C	A	6: 124,976,602 (GRCm39)	P137Q	probably damaging	Het
Prdm15	A	C	16: 97,600,464 (GRCm39)		probably null	Het
Ptprf	A	T	4: 118,126,369 (GRCm39)		probably benign	Het
Rfx7	A	G	9: 72,525,246 (GRCm39)	D812G	probably benign	Het
Rgs22	T	C	15: 36,050,378 (GRCm39)	T691A	probably benign	Het
Rundc3a	A	T	11: 102,292,914 (GRCm39)	S436C	probably damaging	Het
Sntb1	T	C	15: 55,769,714 (GRCm39)	T92A	possibly damaging	Het
Tars3	T	C	7: 65,332,596 (GRCm39)	S566P	probably damaging	Het
Tbc1d32	A	T	10: 56,026,888 (GRCm39)		probably null	Het
Tep1	T	C	14: 51,104,321 (GRCm39)	Q191R	probably benign	Het
Tmc2	C	A	2: 130,056,483 (GRCm39)		probably null	Het
Tns1	A	C	1: 74,118,399 (GRCm39)	I77S	probably damaging	Het
Trpd52l3	T	C	19: 29,981,646 (GRCm39)	W134R	probably damaging	Het
Vmn2r15	A	C	5: 109,445,309 (GRCm39)	N38K	possibly damaging	Het
Wdr90	A	T	17: 26,079,362 (GRCm39)	D257E	probably damaging	Het
Zbtb9	T	C	17: 27,193,098 (GRCm39)	C168R	possibly damaging	Het
Zfp1004	T	A	2: 150,035,065 (GRCm39)	V462E	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
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
R8061:Chrm1	UTSW	19	8,656,518 (GRCm39)	missense	possibly damaging	0.93
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'- ACCTGGCTGCAATGAACACC -3'
(R):5'- GGTCGGGTCACTGAGAAGTAAC -3'

Sequencing Primer
(F):5'- CTCAGTGCCCCCTGCTG -3'
(R):5'- AAGATTCATGACAGAGGCGTTGC -3'

Posted On

2014-10-02