Incidental Mutation 'IGL00466:Chrm1'
ID 3256
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrm1
Ensembl Gene ENSMUSG00000032773
Gene Name cholinergic receptor, muscarinic 1, CNS
Synonyms Chrm-1, AW495047, M1R, muscarinic acetylcholine receptor 1, M1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # IGL00466
Quality Score
Status
Chromosome 19
Chromosomal Location 8641369-8660970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8655438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 48 (I48F)
Ref Sequence ENSEMBL: ENSMUSP00000135356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035444] [ENSMUST00000163785] [ENSMUST00000177197]
AlphaFold P12657
Predicted Effect probably benign
Transcript: ENSMUST00000035444
AA Change: I48F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000042632
Gene: ENSMUSG00000032773
AA Change: I48F

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 benign
Transcript: ENSMUST00000163785
AA Change: I48F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000126103
Gene: ENSMUSG00000032773
AA Change: I48F

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
AA Change: I48F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000135356
Gene: ENSMUSG00000032773
AA Change: I48F

DomainStartEndE-ValueType
Pfam:7tm_1 42 74 1.6e-9 PFAM
Coding Region Coverage
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,056,618 (GRCm39) A359T probably damaging Het
Atm A G 9: 53,410,412 (GRCm39) probably benign Het
Ccdc59 G A 10: 105,683,035 (GRCm39) S240N probably benign Het
Ccdc59 A T 10: 105,683,034 (GRCm39) S240C probably benign Het
Col28a1 T C 6: 8,022,081 (GRCm39) probably benign Het
Gys2 G A 6: 142,409,016 (GRCm39) Q80* probably null Het
Hck A T 2: 152,978,653 (GRCm39) T289S probably benign Het
Il1rapl2 A G X: 137,735,292 (GRCm39) D403G probably damaging Het
Kif16b A T 2: 142,689,955 (GRCm39) L319* probably null Het
Kit T C 5: 75,771,479 (GRCm39) I212T probably benign Het
Mroh5 G A 15: 73,664,638 (GRCm39) probably benign Het
Muc6 T C 7: 141,232,169 (GRCm39) Y986C possibly damaging Het
Nln A C 13: 104,172,153 (GRCm39) V641G probably damaging Het
Nyap2 C A 1: 81,169,695 (GRCm39) L151I probably damaging Het
Plce1 A G 19: 38,709,473 (GRCm39) Y1109C probably damaging Het
Slc10a4 T C 5: 73,169,263 (GRCm39) I296T probably damaging Het
Slc35c1 T A 2: 92,284,703 (GRCm39) I304F probably benign Het
Stxbp2 C T 8: 3,684,065 (GRCm39) A124V probably benign Het
Stxbp5 A G 10: 9,675,694 (GRCm39) Y642H probably damaging Het
Tecta T C 9: 42,243,844 (GRCm39) T2003A probably damaging Het
Zfp804a C A 2: 81,884,219 (GRCm39) L29I probably benign Het
Other mutations in Chrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20