Incidental Mutation 'IGL00495:Chrm2'
ID5460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrm2
Ensembl Gene ENSMUSG00000045613
Gene Namecholinergic receptor, muscarinic 2, cardiac
Synonymsmuscarinic acetylcholine receptor 2, M2, Chrm-2, AChR M2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL00495
Quality Score
Status
Chromosome6
Chromosomal Location36388084-36528414 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36523420 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 71 (I71F)
Ref Sequence ENSEMBL: ENSMUSP00000130874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172278]
Predicted Effect possibly damaging
Transcript: ENSMUST00000172278
AA Change: I71F

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130874
Gene: ENSMUSG00000045613
AA Change: I71F

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,415,843 T679A probably benign Het
Bhlhe40 T A 6: 108,661,178 M33K probably benign Het
Cacna2d1 T C 5: 16,370,609 S1059P probably benign Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Cntnap5c A G 17: 58,162,277 Q618R probably benign Het
Cog5 T A 12: 31,837,309 N476K probably benign Het
Dhx36 G A 3: 62,470,558 probably benign Het
Dnajb8 G T 6: 88,222,854 R124L possibly damaging Het
Dnajc16 A T 4: 141,763,563 probably null Het
Dzip1 T C 14: 118,883,394 D717G probably benign Het
Eps15 G T 4: 109,309,149 V80L probably damaging Het
Fmn1 G A 2: 113,444,467 probably benign Het
Gm12185 A G 11: 48,907,861 S602P probably damaging Het
Gm28539 T G 16: 18,954,780 probably benign Het
Grm3 T C 5: 9,512,290 N520S probably benign Het
Hivep2 A G 10: 14,142,244 N1825S probably damaging Het
Igfbp2 A G 1: 72,849,128 H143R probably benign Het
Igsf8 T G 1: 172,317,544 V146G possibly damaging Het
Kif13b T G 14: 64,714,113 S68A probably benign Het
Lrrc15 T A 16: 30,274,030 I164F possibly damaging Het
Mrrf G A 2: 36,141,631 R53H possibly damaging Het
Ms4a6d G A 19: 11,601,885 T76I probably damaging Het
Pkd1l1 T C 11: 8,868,493 R1332G probably benign Het
Plekha1 A G 7: 130,877,839 Y29C probably damaging Het
Pnliprp1 A T 19: 58,734,730 H221L probably damaging Het
Pomt2 T C 12: 87,124,856 D380G probably damaging Het
Ppm1f C A 16: 16,910,971 T79N possibly damaging Het
Ppp4r3b A C 11: 29,211,782 T719P possibly damaging Het
Socs4 G A 14: 47,290,252 V215I probably benign Het
Spg11 A G 2: 122,094,456 probably null Het
Stk31 T A 6: 49,437,443 C459S probably benign Het
Ttn A G 2: 76,709,202 V26153A possibly damaging Het
Twf1 C T 15: 94,580,936 probably benign Het
Vrk3 A T 7: 44,769,647 K383M probably damaging Het
Wdr83 A T 8: 85,079,814 N118K probably damaging Het
Other mutations in Chrm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Chrm2 APN 6 36523391 missense probably damaging 1.00
IGL01011:Chrm2 APN 6 36524438 missense probably benign 0.41
IGL01482:Chrm2 APN 6 36523757 missense possibly damaging 0.95
R0101:Chrm2 UTSW 6 36524495 missense probably damaging 1.00
R0390:Chrm2 UTSW 6 36524111 missense probably benign 0.06
R0539:Chrm2 UTSW 6 36523706 missense possibly damaging 0.69
R0972:Chrm2 UTSW 6 36524466 missense possibly damaging 0.56
R2106:Chrm2 UTSW 6 36523447 missense probably damaging 1.00
R3552:Chrm2 UTSW 6 36523810 missense probably damaging 1.00
R4431:Chrm2 UTSW 6 36524162 missense probably benign
R4910:Chrm2 UTSW 6 36524233 missense probably benign 0.19
R5358:Chrm2 UTSW 6 36523355 missense probably damaging 1.00
R5846:Chrm2 UTSW 6 36523450 missense probably damaging 0.98
R6108:Chrm2 UTSW 6 36523295 missense probably damaging 1.00
R6418:Chrm2 UTSW 6 36523739 missense probably damaging 1.00
R6628:Chrm2 UTSW 6 36523357 missense probably damaging 1.00
R6677:Chrm2 UTSW 6 36524092 missense probably damaging 0.99
R6716:Chrm2 UTSW 6 36524435 missense probably damaging 1.00
R7658:Chrm2 UTSW 6 36523249 missense probably benign 0.00
R8004:Chrm2 UTSW 6 36523286 missense probably damaging 1.00
R8185:Chrm2 UTSW 6 36523889 missense probably benign 0.00
R8277:Chrm2 UTSW 6 36523276 missense probably benign 0.31
Z1177:Chrm2 UTSW 6 36524607 missense probably damaging 1.00
Posted On2012-04-20