Incidental Mutation 'R6466:Chrm1'
ID 516610
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 044599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R6466 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 8641369-8660970 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 8655542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 82 (Y82*)
Ref Sequence ENSEMBL: ENSMUSP00000126103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035444] [ENSMUST00000163785] [ENSMUST00000177197]
AlphaFold P12657
Predicted Effect probably null
Transcript: ENSMUST00000035444
AA Change: Y82*
SMART Domains Protein: ENSMUSP00000042632
Gene: ENSMUSG00000032773
AA Change: Y82*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000163785
AA Change: Y82*
SMART Domains Protein: ENSMUSP00000126103
Gene: ENSMUSG00000032773
AA Change: Y82*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:7tm_1 42 74 1.6e-9 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.1%
Validation Efficiency 98% (56/57)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190005I06Rik A T 8: 121,335,735 (GRCm39) D69E probably damaging Het
AAdacl4fm3 T A 4: 144,430,437 (GRCm39) D184V probably damaging Het
Adgrv1 G T 13: 81,723,220 (GRCm39) probably null Het
Ahr A T 12: 35,554,031 (GRCm39) V696E probably benign Het
Akap13 A G 7: 75,376,792 (GRCm39) T2007A probably benign Het
Arid1b T C 17: 5,377,953 (GRCm39) F753S probably damaging Het
Bpifb3 G T 2: 153,764,108 (GRCm39) K105N probably damaging Het
C2cd2 A G 16: 97,680,822 (GRCm39) C331R probably benign Het
Clcn3 A C 8: 61,382,595 (GRCm39) V331G probably damaging Het
Dchs1 A T 7: 105,413,748 (GRCm39) D1022E probably benign Het
Dnah2 T A 11: 69,430,241 (GRCm39) T106S probably benign Het
Fam171a2 T A 11: 102,330,711 (GRCm39) D256V probably damaging Het
Firrm G T 1: 163,781,734 (GRCm39) R898S probably benign Het
Fmn2 T A 1: 174,437,149 (GRCm39) probably benign Het
Fut11 C T 14: 20,745,377 (GRCm39) R103W probably damaging Het
Gas2l2 A C 11: 83,320,179 (GRCm39) S26A probably damaging Het
Gramd1a A T 7: 30,843,221 (GRCm39) I29N probably benign Het
Grem2 A G 1: 174,664,450 (GRCm39) V133A probably damaging Het
Hydin T A 8: 111,233,600 (GRCm39) S1813T possibly damaging Het
Igkv3-2 T C 6: 70,676,023 (GRCm39) F111L probably benign Het
Ints8 T C 4: 11,252,878 (GRCm39) Q68R probably damaging Het
Irx5 A G 8: 93,086,354 (GRCm39) I146V probably damaging Het
Kcnh3 T C 15: 99,136,124 (GRCm39) L707P probably damaging Het
Kcnk4 T A 19: 6,905,665 (GRCm39) I101F probably damaging Het
Klhl9 A G 4: 88,639,399 (GRCm39) Y281H probably benign Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Lmbr1 C T 5: 29,583,166 (GRCm39) A9T probably benign Het
Map10 G T 8: 126,399,123 (GRCm39) E839* probably null Het
Nectin4 C A 1: 171,214,321 (GRCm39) A492D probably damaging Het
Nfat5 T A 8: 108,082,140 (GRCm39) probably null Het
Or5p5 A G 7: 107,413,901 (GRCm39) T37A probably benign Het
Plec A G 15: 76,062,084 (GRCm39) Y2608H probably benign Het
Pold3 A G 7: 99,749,839 (GRCm39) S42P probably benign Het
Ppp2r1a G T 17: 21,180,893 (GRCm39) G432* probably null Het
Qki T C 17: 10,434,394 (GRCm39) E315G probably benign Het
Rfx2 C T 17: 57,091,397 (GRCm39) V354I probably benign Het
Rp1 T C 1: 4,418,109 (GRCm39) Y1001C probably benign Het
Sez6l A G 5: 112,609,007 (GRCm39) probably null Het
Slc39a14 A G 14: 70,547,335 (GRCm39) I337T probably damaging Het
Slc3a2 G T 19: 8,686,683 (GRCm39) L76M probably damaging Het
Slco1a5 T C 6: 142,183,260 (GRCm39) T555A probably benign Het
Sprr2e A T 3: 92,260,341 (GRCm39) K57N unknown Het
Syne2 A G 12: 75,990,675 (GRCm39) T1886A probably damaging Het
Tenm3 A T 8: 48,689,098 (GRCm39) I2147N probably damaging Het
Thbs1 G T 2: 117,950,328 (GRCm39) G654W probably damaging Het
Tigd5 A G 15: 75,782,352 (GRCm39) Y238C possibly damaging Het
Tmem221 A G 8: 72,010,493 (GRCm39) F126S probably damaging Het
Trp63 C A 16: 25,582,108 (GRCm39) P52Q probably damaging Het
Ugp2 A T 11: 21,278,883 (GRCm39) S434R probably benign Het
Vmn2r69 A C 7: 85,056,378 (GRCm39) F587V probably benign Het
Vps13d T A 4: 144,784,065 (GRCm39) N3872I possibly damaging Het
Wdfy2 A G 14: 63,186,115 (GRCm39) Y250C probably damaging Het
Zbtb16 T C 9: 48,576,619 (GRCm39) D487G possibly damaging Het
Other mutations in Chrm1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GTCCCAACATCACCGTCTTG -3'
(R):5'- AATCATCAGAGCTGCCCTG -3'

Sequencing Primer
(F):5'- TCTTGGCACCAGGAAAGGGTC -3'
(R):5'- GTCACTGAGAAGTAACGG -3'
Posted On 2018-05-21