Incidental Mutation 'IGL00466:Chrm1'
ID3256
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrm1
Ensembl Gene ENSMUSG00000032773
Gene Namecholinergic receptor, muscarinic 1, CNS
Synonymsmuscarinic acetylcholine receptor 1, M1R, M1, AW495047, Chrm-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #IGL00466
Quality Score
Status
Chromosome19
Chromosomal Location8663789-8683587 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 8678074 bp
ZygosityHeterozygous
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]
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: 57,068,186 A359T probably damaging Het
Atm A G 9: 53,499,112 probably benign Het
Ccdc59 G A 10: 105,847,174 S240N probably benign Het
Ccdc59 A T 10: 105,847,173 S240C probably benign Het
Col28a1 T C 6: 8,022,081 probably benign Het
Gys2 G A 6: 142,463,290 Q80* probably null Het
Hck A T 2: 153,136,733 T289S probably benign Het
Il1rapl2 A G X: 138,834,543 D403G probably damaging Het
Kif16b A T 2: 142,848,035 L319* probably null Het
Kit T C 5: 75,610,819 I212T probably benign Het
Mroh5 G A 15: 73,792,789 probably benign Het
Muc6 T C 7: 141,645,902 Y986C possibly damaging Het
Nln A C 13: 104,035,645 V641G probably damaging Het
Nyap2 C A 1: 81,191,980 L151I probably damaging Het
Plce1 A G 19: 38,721,029 Y1109C probably damaging Het
Slc10a4 T C 5: 73,011,920 I296T probably damaging Het
Slc35c1 T A 2: 92,454,358 I304F probably benign Het
Stxbp2 C T 8: 3,634,065 A124V probably benign Het
Stxbp5 A G 10: 9,799,950 Y642H probably damaging Het
Tecta T C 9: 42,332,548 T2003A probably damaging Het
Zfp804a C A 2: 82,053,875 L29I probably benign Het
Other mutations in Chrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01633:Chrm1 APN 19 8678495 missense probably benign 0.29
IGL01824:Chrm1 APN 19 8679130 missense probably damaging 0.98
IGL02539:Chrm1 APN 19 8678311 missense probably damaging 1.00
IGL03342:Chrm1 APN 19 8679308 missense probably benign 0.33
R1660:Chrm1 UTSW 19 8679218 missense possibly damaging 0.53
R1942:Chrm1 UTSW 19 8678273 missense probably damaging 0.99
R2208:Chrm1 UTSW 19 8678099 missense probably damaging 1.00
R6466:Chrm1 UTSW 19 8678178 nonsense probably null
R6535:Chrm1 UTSW 19 8679073 missense possibly damaging 0.93
R6720:Chrm1 UTSW 19 8678548 missense probably benign 0.00
R8061:Chrm1 UTSW 19 8679154 missense possibly damaging 0.93
R8262:Chrm1 UTSW 19 8679089 missense probably damaging 0.98
Posted On2012-04-20