Incidental Mutation 'IGL01633:Chrm1'
ID 93631
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 # IGL01633
Quality Score
Status
Chromosome 19
Chromosomal Location 8641369-8660970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8655859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 188 (I188T)
Ref Sequence ENSEMBL: ENSMUSP00000126103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035444] [ENSMUST00000163785] [ENSMUST00000177197]
AlphaFold P12657
Predicted Effect probably benign
Transcript: ENSMUST00000035444
AA Change: I188T

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000042632
Gene: ENSMUSG00000032773
AA Change: I188T

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: I188T

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126103
Gene: ENSMUSG00000032773
AA Change: I188T

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,334,406 (GRCm39) S1868T possibly damaging Het
Abca3 G A 17: 24,616,327 (GRCm39) W923* probably null Het
Abca8b A G 11: 109,827,580 (GRCm39) M1476T probably damaging Het
Abi3bp T C 16: 56,498,163 (GRCm39) F729S probably damaging Het
Acacb T C 5: 114,356,919 (GRCm39) probably benign Het
Aldh3a2 A G 11: 61,139,731 (GRCm39) L467P probably benign Het
Appl1 T C 14: 26,684,795 (GRCm39) T85A probably damaging Het
Aspm T A 1: 139,408,574 (GRCm39) I2487N possibly damaging Het
Bcl2a1c G A 9: 114,159,290 (GRCm39) V23I probably benign Het
C2cd2 T A 16: 97,676,323 (GRCm39) probably benign Het
Carmil3 A T 14: 55,731,684 (GRCm39) H170L possibly damaging Het
Ccdc141 C T 2: 76,919,593 (GRCm39) V305I probably benign Het
Ccdc174 G A 6: 91,857,343 (GRCm39) probably null Het
Cep126 T G 9: 8,103,320 (GRCm39) Q230P possibly damaging Het
Depdc5 T C 5: 33,081,544 (GRCm39) S569P probably damaging Het
Drc1 G A 5: 30,503,007 (GRCm39) E177K probably damaging Het
Duox1 A G 2: 122,164,279 (GRCm39) E913G probably benign Het
Fbxw9 T C 8: 85,791,055 (GRCm39) S241P probably damaging Het
Fez2 C A 17: 78,712,147 (GRCm39) probably benign Het
Fga G T 3: 82,937,606 (GRCm39) R161L possibly damaging Het
Fn3krp G T 11: 121,320,533 (GRCm39) G293* probably null Het
Gfra1 C T 19: 58,255,479 (GRCm39) E318K probably benign Het
Gli3 C T 13: 15,823,219 (GRCm39) P314S probably damaging Het
Gm5114 A T 7: 39,057,490 (GRCm39) S710T probably benign Het
Gpr141 T C 13: 19,936,769 (GRCm39) D2G probably benign Het
Inppl1 G A 7: 101,483,041 (GRCm39) Q63* probably null Het
Lrrc73 T A 17: 46,566,657 (GRCm39) V169E possibly damaging Het
Lsm11 C T 11: 45,824,615 (GRCm39) R304Q probably benign Het
Macf1 T C 4: 123,395,964 (GRCm39) D788G probably damaging Het
Nbas T A 12: 13,533,898 (GRCm39) D1844E probably damaging Het
Nt5c A G 11: 115,382,161 (GRCm39) F73L probably damaging Het
Osmr A T 15: 6,854,085 (GRCm39) I541N probably damaging Het
Phrf1 A G 7: 140,840,413 (GRCm39) I1203V probably benign Het
Pram1 C A 17: 33,861,109 (GRCm39) P510Q possibly damaging Het
Prepl A G 17: 85,379,444 (GRCm39) Y415H probably benign Het
Prss27 A T 17: 24,264,650 (GRCm39) H271L probably damaging Het
Ptpn18 A G 1: 34,510,989 (GRCm39) S287G probably benign Het
Ptprq T C 10: 107,535,584 (GRCm39) probably benign Het
Sars2 A G 7: 28,446,974 (GRCm39) K218E probably benign Het
Senp6 G T 9: 79,999,676 (GRCm39) S31I probably damaging Het
Shld2 G T 14: 33,971,136 (GRCm39) T31K probably damaging Het
Skint6 C A 4: 113,095,246 (GRCm39) V138F probably damaging Het
Slc4a8 C A 15: 100,685,128 (GRCm39) H168N probably damaging Het
Tbx15 T G 3: 99,220,358 (GRCm39) I150S probably damaging Het
Tbxas1 A G 6: 38,959,125 (GRCm39) N103D probably benign Het
Tmc5 A G 7: 118,222,809 (GRCm39) N170D probably damaging Het
Tmem108 A T 9: 103,361,950 (GRCm39) N545K probably benign Het
Trub1 A G 19: 57,441,616 (GRCm39) K80E possibly damaging Het
Tulp3 A T 6: 128,302,923 (GRCm39) Y299N probably damaging Het
Other mutations in Chrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Chrm1 APN 19 8,655,438 (GRCm39) missense probably benign 0.01
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 2013-12-09