Incidental Mutation 'IGL01011:Chrm2'
ID 53607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrm2
Ensembl Gene ENSMUSG00000045613
Gene Name cholinergic receptor, muscarinic 2, cardiac
Synonyms muscarinic acetylcholine receptor 2, M2, AChR M2, Chrm-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL01011
Quality Score
Status
Chromosome 6
Chromosomal Location 36365019-36505349 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36501373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 410 (N410S)
Ref Sequence ENSEMBL: ENSMUSP00000130874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172278]
AlphaFold Q9ERZ4
Predicted Effect probably benign
Transcript: ENSMUST00000172278
AA Change: N410S

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130874
Gene: ENSMUSG00000045613
AA Change: N410S

DomainStartEndE-ValueType
Pfam:7tm_1 40 440 2.5e-75 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 to these receptors 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 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have slightly decreased body weight (5%) compared to wild-type animals and are resistant to the tremorogenic, analgesic, and hypothermic responses to oxotremorine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,165,529 (GRCm39) C282S probably damaging Het
Abca12 T C 1: 71,302,791 (GRCm39) I2143V probably benign Het
Adgrg6 A C 10: 14,285,542 (GRCm39) I1148S probably damaging Het
Aox4 C T 1: 58,279,934 (GRCm39) R517* probably null Het
Arnt2 T A 7: 83,935,037 (GRCm39) D289V probably benign Het
Atad2b A G 12: 5,015,984 (GRCm39) N570S probably benign Het
Aven G A 2: 112,460,130 (GRCm39) D208N possibly damaging Het
Bcl9l A G 9: 44,416,476 (GRCm39) D183G possibly damaging Het
Cd300lf A G 11: 115,015,159 (GRCm39) S144P probably benign Het
Chd8 C A 14: 52,468,989 (GRCm39) G543V possibly damaging Het
Clip4 A G 17: 72,156,934 (GRCm39) I590V probably benign Het
Cnbp C T 6: 87,822,682 (GRCm39) R27H probably benign Het
Col4a3 T C 1: 82,660,022 (GRCm39) V889A unknown Het
Cxcl5 T C 5: 90,908,382 (GRCm39) probably benign Het
Dennd6a G T 14: 26,324,209 (GRCm39) V171F probably damaging Het
Dhx38 T C 8: 110,289,323 (GRCm39) I26V probably benign Het
Dscaml1 A G 9: 45,594,970 (GRCm39) D691G possibly damaging Het
Etfdh A T 3: 79,519,368 (GRCm39) probably benign Het
Fbn2 G A 18: 58,228,312 (GRCm39) probably benign Het
Foxp2 T A 6: 15,438,018 (GRCm39) *715R probably null Het
Ftl1 A T 7: 45,108,070 (GRCm39) D65E probably benign Het
Galm A G 17: 80,490,709 (GRCm39) T289A probably benign Het
Gm20721 A G 2: 174,187,531 (GRCm39) D1049G probably damaging Het
Gm28778 T C 1: 53,338,277 (GRCm39) V47A probably benign Het
Gm5414 T C 15: 101,536,569 (GRCm39) S19G probably benign Het
H1f6 C T 13: 23,880,032 (GRCm39) L62F probably damaging Het
Hdac7 T A 15: 97,691,816 (GRCm39) E835D possibly damaging Het
Hspg2 C T 4: 137,286,646 (GRCm39) T3663I probably damaging Het
Kdm4d A T 9: 14,375,515 (GRCm39) D114E probably benign Het
Kif5a A T 10: 127,075,065 (GRCm39) V516E probably benign Het
Lrrtm1 A G 6: 77,221,218 (GRCm39) probably null Het
Miga1 G T 3: 151,982,327 (GRCm39) T519K probably benign Het
Mtfr1l G A 4: 134,256,511 (GRCm39) P182S probably damaging Het
Myo15a A G 11: 60,367,818 (GRCm39) I193V probably benign Het
Myo1e T C 9: 70,223,871 (GRCm39) probably benign Het
Or13a26 A T 7: 140,284,350 (GRCm39) Y62F probably damaging Het
Or1e1c A T 11: 73,265,833 (GRCm39) Q86L probably benign Het
Or5h22 T A 16: 58,894,793 (GRCm39) T217S probably benign Het
Pias1 T C 9: 62,820,137 (GRCm39) T277A probably benign Het
Skic3 G A 13: 76,270,784 (GRCm39) C127Y probably damaging Het
Slamf6 T A 1: 171,765,666 (GRCm39) H263Q probably benign Het
Snrnp48 A G 13: 38,404,740 (GRCm39) D202G probably damaging Het
Snx13 T A 12: 35,148,279 (GRCm39) D269E probably damaging Het
Tiam2 A T 17: 3,465,303 (GRCm39) D344V probably benign Het
Tmem62 G T 2: 120,809,700 (GRCm39) K127N possibly damaging Het
Trav15-1-dv6-1 C T 14: 53,797,492 (GRCm39) T46I possibly damaging Het
Trav16d-dv11 C T 14: 53,285,041 (GRCm39) T39M possibly damaging Het
Trio T C 15: 27,736,575 (GRCm39) D2794G probably damaging Het
Trpc7 C T 13: 56,952,353 (GRCm39) G551D probably damaging Het
Ttn A G 2: 76,644,634 (GRCm39) V11294A possibly damaging Het
Ubap2 G A 4: 41,195,328 (GRCm39) probably benign Het
Ubap2l G A 3: 89,916,563 (GRCm39) Q915* probably null Het
Ubfd1 A G 7: 121,677,695 (GRCm39) E340G probably benign Het
Vil1 T C 1: 74,474,046 (GRCm39) probably null Het
Vmn1r6 T G 6: 56,979,529 (GRCm39) L42V probably benign Het
Vps13c A G 9: 67,834,237 (GRCm39) T1635A probably damaging Het
Zfhx3 T A 8: 109,520,226 (GRCm39) H449Q probably benign Het
Zfp750 A T 11: 121,403,922 (GRCm39) S318T probably benign Het
Other mutations in Chrm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Chrm2 APN 6 36,500,326 (GRCm39) missense probably damaging 1.00
IGL00495:Chrm2 APN 6 36,500,355 (GRCm39) missense possibly damaging 0.61
IGL01482:Chrm2 APN 6 36,500,692 (GRCm39) missense possibly damaging 0.95
R0101:Chrm2 UTSW 6 36,501,430 (GRCm39) missense probably damaging 1.00
R0390:Chrm2 UTSW 6 36,501,046 (GRCm39) missense probably benign 0.06
R0539:Chrm2 UTSW 6 36,500,641 (GRCm39) missense possibly damaging 0.69
R0972:Chrm2 UTSW 6 36,501,401 (GRCm39) missense possibly damaging 0.56
R2106:Chrm2 UTSW 6 36,500,382 (GRCm39) missense probably damaging 1.00
R3552:Chrm2 UTSW 6 36,500,745 (GRCm39) missense probably damaging 1.00
R4431:Chrm2 UTSW 6 36,501,097 (GRCm39) missense probably benign
R4910:Chrm2 UTSW 6 36,501,168 (GRCm39) missense probably benign 0.19
R5358:Chrm2 UTSW 6 36,500,290 (GRCm39) missense probably damaging 1.00
R5846:Chrm2 UTSW 6 36,500,385 (GRCm39) missense probably damaging 0.98
R6108:Chrm2 UTSW 6 36,500,230 (GRCm39) missense probably damaging 1.00
R6418:Chrm2 UTSW 6 36,500,674 (GRCm39) missense probably damaging 1.00
R6628:Chrm2 UTSW 6 36,500,292 (GRCm39) missense probably damaging 1.00
R6677:Chrm2 UTSW 6 36,501,027 (GRCm39) missense probably damaging 0.99
R6716:Chrm2 UTSW 6 36,501,370 (GRCm39) missense probably damaging 1.00
R7658:Chrm2 UTSW 6 36,500,184 (GRCm39) missense probably benign 0.00
R8004:Chrm2 UTSW 6 36,500,221 (GRCm39) missense probably damaging 1.00
R8185:Chrm2 UTSW 6 36,500,824 (GRCm39) missense probably benign 0.00
R8277:Chrm2 UTSW 6 36,500,211 (GRCm39) missense probably benign 0.31
R8557:Chrm2 UTSW 6 36,501,010 (GRCm39) missense probably benign
R9395:Chrm2 UTSW 6 36,501,196 (GRCm39) missense possibly damaging 0.50
R9441:Chrm2 UTSW 6 36,500,955 (GRCm39) missense probably benign 0.04
Z1177:Chrm2 UTSW 6 36,501,542 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-28