Incidental Mutation 'IGL01824:Chrm1'
ID154634
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: 0.091) question?
Stock #IGL01824
Quality Score
Status
Chromosome19
Chromosomal Location8663789-8683587 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8679130 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 400 (W400R)
Ref Sequence ENSEMBL: ENSMUSP00000126103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035444] [ENSMUST00000163785] [ENSMUST00000177197]
Predicted Effect probably damaging
Transcript: ENSMUST00000035444
AA Change: W400R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042632
Gene: ENSMUSG00000032773
AA Change: W400R

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 damaging
Transcript: ENSMUST00000163785
AA Change: W400R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126103
Gene: ENSMUSG00000032773
AA Change: W400R

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c G A 7: 84,151,289 R186C probably benign Het
Ankar A G 1: 72,651,727 V1196A probably benign Het
Asah1 A T 8: 41,349,543 probably benign Het
Cyp27a1 G T 1: 74,735,881 E290* probably null Het
Dnah7a T C 1: 53,504,270 D2247G probably benign Het
Gins4 G A 8: 23,234,768 Q57* probably null Het
Gli1 T C 10: 127,336,527 D219G probably benign Het
Greb1 A T 12: 16,711,716 C554* probably null Het
Gtf2ird2 T C 5: 134,197,282 probably benign Het
Ifna15 T C 4: 88,557,783 R155G probably benign Het
Lck T A 4: 129,558,146 M14L probably benign Het
Megf6 A G 4: 154,252,234 D322G probably damaging Het
Olfr1272 T A 2: 90,281,919 I219F probably damaging Het
Pcdh18 A T 3: 49,754,774 D697E probably damaging Het
Pnp C T 14: 50,951,413 T221I probably damaging Het
Ppl A G 16: 5,087,889 I1514T probably damaging Het
Scnn1g A G 7: 121,766,293 M523V probably benign Het
Sema4c A G 1: 36,553,029 Y246H possibly damaging Het
Slco1a5 T A 6: 142,253,037 I301F probably benign Het
Srebf1 A G 11: 60,204,131 S446P probably benign Het
Sys1 T G 2: 164,463,305 L56R probably damaging Het
Trpc7 G T 13: 56,789,722 Y585* probably null Het
Vmn2r110 T A 17: 20,574,667 Y580F probably benign Het
Zmym6 G T 4: 127,108,706 V485F probably damaging Het
Other mutations in Chrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Chrm1 APN 19 8678074 missense probably benign 0.01
IGL01633:Chrm1 APN 19 8678495 missense probably benign 0.29
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
Posted On2014-02-04