Incidental Mutation 'R4431:Chrm2'
ID 328611
Institutional Source Beutler Lab
Gene Symbol Chrm2
Ensembl Gene ENSMUSG00000045613
Gene Name cholinergic receptor, muscarinic 2, cardiac
Synonyms muscarinic acetylcholine receptor 2, M2, AChR M2, Chrm-2
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 36365019-36505349 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36501097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 318 (D318G)
Ref Sequence ENSEMBL: ENSMUSP00000130874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172278]
AlphaFold Q9ERZ4
Predicted Effect probably benign
Transcript: ENSMUST00000172278
AA Change: D318G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130874
Gene: ENSMUSG00000045613
AA Change: D318G

DomainStartEndE-ValueType
Pfam:7tm_1 40 440 2.5e-75 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S probably damaging 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
IGL01011:Chrm2 APN 6 36,501,373 (GRCm39) missense probably benign 0.41
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
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
Predicted Primers PCR Primer
(F):5'- AGATCCAGAATGGCAAGGCTC -3'
(R):5'- ATAGCCAAGATTGTCCTGGTC -3'

Sequencing Primer
(F):5'- ATGGCAAGGCTCCGCGG -3'
(R):5'- CACTTTCTTTTCCCGGGATGGAG -3'
Posted On 2015-07-21