Incidental Mutation 'R8262:Chrm1'
ID 639890
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 067687-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R8262 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 8641369-8660970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8656453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 386 (L386Q)
Ref Sequence ENSEMBL: ENSMUSP00000042632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035444] [ENSMUST00000163785] [ENSMUST00000177197]
AlphaFold P12657
Predicted Effect probably damaging
Transcript: ENSMUST00000035444
AA Change: L386Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042632
Gene: ENSMUSG00000032773
AA Change: L386Q

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 36 227 1.7e-7 PFAM
Pfam:7tm_1 42 418 1.9e-97 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163785
AA Change: L386Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126103
Gene: ENSMUSG00000032773
AA Change: L386Q

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: 98.1%
Validation Efficiency 98% (58/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,107,709 (GRCm39) D358G possibly damaging Het
Adam26a A T 8: 44,022,178 (GRCm39) C437* probably null Het
Arhgap10 A T 8: 78,037,468 (GRCm39) C587S probably benign Het
Bank1 G A 3: 135,948,721 (GRCm39) T285I probably benign Het
Bhlha15 C T 5: 144,128,257 (GRCm39) S123L probably damaging Het
Cacul1 T C 19: 60,517,475 (GRCm39) *305W probably null Het
Cep112 A C 11: 108,393,977 (GRCm39) K365T probably damaging Het
Cnbp C A 6: 87,822,194 (GRCm39) R110L probably damaging Het
Cntnap5a A T 1: 116,116,140 (GRCm39) I541F possibly damaging Het
Dscaml1 T G 9: 45,658,438 (GRCm39) probably benign Het
Enpp3 C T 10: 24,653,824 (GRCm39) S711N probably damaging Het
Eps8 G T 6: 137,459,252 (GRCm39) N750K probably benign Het
Fan1 G T 7: 64,023,054 (GRCm39) N66K probably benign Het
Fbf1 G A 11: 116,044,845 (GRCm39) T323I probably benign Het
Flg2 A T 3: 93,127,517 (GRCm39) N2143I unknown Het
Fn3k A C 11: 121,339,744 (GRCm39) T169P probably benign Het
Fubp1 T G 3: 151,926,356 (GRCm39) I320R probably damaging Het
Gfpt2 A T 11: 49,714,607 (GRCm39) E335D probably benign Het
Gm17472 T C 6: 42,957,968 (GRCm39) I79T probably benign Het
Gpr151 C A 18: 42,711,437 (GRCm39) E414* probably null Het
Gpr179 G A 11: 97,226,983 (GRCm39) S1724L probably benign Het
Gtf2h3 C A 5: 124,728,967 (GRCm39) Y175* probably null Het
Hal T A 10: 93,328,369 (GRCm39) I215N probably damaging Het
Htt A G 5: 35,053,304 (GRCm39) T2546A probably benign Het
Ighv1-11 T C 12: 114,576,077 (GRCm39) Y46C probably damaging Het
Lcn4 T C 2: 26,558,375 (GRCm39) D170G probably benign Het
Lrch1 T A 14: 75,055,935 (GRCm39) D306V probably damaging Het
Mtcl1 A C 17: 66,650,653 (GRCm39) V1604G probably damaging Het
Or10g3b T C 14: 52,586,625 (GRCm39) N293D probably damaging Het
Or3a10 A G 11: 73,935,926 (GRCm39) L58P probably damaging Het
Or4c108 T G 2: 88,803,552 (GRCm39) S228R probably damaging Het
Or4k49 T G 2: 111,494,587 (GRCm39) N5K possibly damaging Het
Or9i1b G A 19: 13,897,226 (GRCm39) V281I probably benign Het
Ormdl2 A G 10: 128,654,837 (GRCm39) L125P possibly damaging Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Pde3a T A 6: 141,433,527 (GRCm39) F803Y possibly damaging Het
Pnpla7 C T 2: 24,873,635 (GRCm39) R214W probably damaging Het
Prtg T C 9: 72,813,520 (GRCm39) V960A probably benign Het
Ptgdr T C 14: 45,090,858 (GRCm39) E300G probably benign Het
Ptpru G T 4: 131,522,274 (GRCm39) Y710* probably null Het
Pxdn T A 12: 30,049,195 (GRCm39) Y620* probably null Het
Pycard T C 7: 127,592,797 (GRCm39) D10G possibly damaging Het
Sh3d21 G T 4: 126,055,775 (GRCm39) Q160K probably benign Het
Slc26a7 G A 4: 14,621,269 (GRCm39) P39L probably benign Het
Snrnp200 T A 2: 127,068,928 (GRCm39) Y936N probably damaging Het
Sox8 T C 17: 25,786,617 (GRCm39) D362G possibly damaging Het
Tcp11 T G 17: 28,286,001 (GRCm39) N538T probably damaging Het
Tent2 T C 13: 93,310,997 (GRCm39) probably benign Het
Tmem132e A C 11: 82,325,666 (GRCm39) E222A probably benign Het
Trpc7 T C 13: 56,937,602 (GRCm39) E618G probably benign Het
Tsc2 G T 17: 24,833,340 (GRCm39) Q695K probably benign Het
Txlnb C A 10: 17,718,752 (GRCm39) L528M possibly damaging Het
Vmn1r176 A G 7: 23,534,878 (GRCm39) Y92H probably benign Het
Vmn2r85 T A 10: 130,254,738 (GRCm39) I649F probably damaging Het
Vwa8 T C 14: 79,171,272 (GRCm39) probably null Het
Wrn A T 8: 33,814,274 (GRCm39) I390N probably benign Het
Zfp493 T A 13: 67,934,976 (GRCm39) C310S 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
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
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'- TGAAGATGCAGCCCATTTTCC -3'

Sequencing Primer
(F):5'- GCTCCCCAAATACAGTCAAGAGG -3'
(R):5'- AGGGGGCCATTAGCATTGGC -3'
Posted On 2020-07-28