Incidental Mutation 'R6535:Chrm1'
ID 520375
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 044661-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R6535 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 8641369-8660970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8656437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 381 (Y381N)
Ref Sequence ENSEMBL: ENSMUSP00000126103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035444] [ENSMUST00000163785] [ENSMUST00000177197]
AlphaFold P12657
Predicted Effect possibly damaging
Transcript: ENSMUST00000035444
AA Change: Y381N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042632
Gene: ENSMUSG00000032773
AA Change: Y381N

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 possibly damaging
Transcript: ENSMUST00000163785
AA Change: Y381N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126103
Gene: ENSMUSG00000032773
AA Change: Y381N

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 G A 17: 43,750,920 (GRCm39) S495N probably benign Het
Ank3 G T 10: 69,713,684 (GRCm39) A448S probably damaging Het
Apobec3 A G 15: 79,781,950 (GRCm39) *47W probably null Het
B4gat1 T C 19: 5,089,558 (GRCm39) V185A possibly damaging Het
Cers1 T A 8: 70,782,804 (GRCm39) V58D probably damaging Het
Cpne6 A T 14: 55,751,122 (GRCm39) E177V probably benign Het
Cpt1a T A 19: 3,415,788 (GRCm39) probably null Het
Ctsq A T 13: 61,183,140 (GRCm39) I334N probably damaging Het
Dennd6b A G 15: 89,070,570 (GRCm39) L400P probably damaging Het
Fam135b A G 15: 71,493,924 (GRCm39) S2P probably damaging Het
Hip1 T C 5: 135,457,351 (GRCm39) probably null Het
Lama2 A C 10: 26,980,127 (GRCm39) L1896R probably damaging Het
Ly6g6g T C 15: 74,644,074 (GRCm39) S81G probably damaging Het
Macf1 A T 4: 123,365,728 (GRCm39) V3011D possibly damaging Het
Macrod1 A G 19: 7,034,515 (GRCm39) D86G probably damaging Het
Mettl8 G T 2: 70,803,733 (GRCm39) H185N possibly damaging Het
Mipol1 A C 12: 57,352,886 (GRCm39) Q75P possibly damaging Het
Pi4ka C T 16: 17,118,900 (GRCm39) V125M probably damaging Het
Pole A C 5: 110,472,673 (GRCm39) Y1618S probably damaging Het
Prrc2a A G 17: 35,381,241 (GRCm39) V21A unknown Het
Rhbdl1 A T 17: 26,054,799 (GRCm39) Y111* probably null Het
Sbk3 A C 7: 4,972,840 (GRCm39) M110R possibly damaging Het
Scn8a G A 15: 100,857,588 (GRCm39) probably benign Het
Tcstv2c T C 13: 120,616,190 (GRCm39) S10P probably damaging Het
Tshz3 T C 7: 36,468,214 (GRCm39) S68P probably damaging Het
Vmn1r88 C T 7: 12,912,112 (GRCm39) T156I probably benign Het
Wrn T C 8: 33,826,131 (GRCm39) H177R probably 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
R6466:Chrm1 UTSW 19 8,655,542 (GRCm39) nonsense probably null
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'- TGGTAGATCCTGAGGCACAG -3'
(R):5'- AAGATGCAGCCCATTTTCCG -3'

Sequencing Primer
(F):5'- TGAGGCACAGGCACCCAC -3'
(R):5'- AGGGGGCCATTAGCATTGGC -3'
Posted On 2018-06-06