Incidental Mutation 'R7423:Chrm3'
ID 575855
Institutional Source Beutler Lab
Gene Symbol Chrm3
Ensembl Gene ENSMUSG00000046159
Gene Name cholinergic receptor, muscarinic 3, cardiac
Synonyms muscarinic acetylcholine receptor 3, M3R, Chrm-3
MMRRC Submission 045501-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R7423 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 9925522-10410883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9928845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 64 (I64V)
Ref Sequence ENSEMBL: ENSMUSP00000140131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063093] [ENSMUST00000187510]
AlphaFold Q9ERZ3
Predicted Effect probably benign
Transcript: ENSMUST00000063093
AA Change: I64V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055579
Gene: ENSMUSG00000046159
AA Change: I64V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 75 265 8.9e-7 PFAM
Pfam:7TM_GPCR_Srsx 78 270 6e-11 PFAM
Pfam:7tm_1 84 543 6.9e-82 PFAM
low complexity region 564 576 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187510
AA Change: I64V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140131
Gene: ENSMUSG00000046159
AA Change: I64V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 75 265 8.5e-7 PFAM
Pfam:7TM_GPCR_Srsx 78 270 6e-11 PFAM
Pfam:7tm_1 84 543 2.6e-88 PFAM
low complexity region 564 576 N/A INTRINSIC
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 96% (91/95)
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 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous null mice show reduced body weight and gonadal fat pad weight, decreased food intake, and low serum levels of leptin, triglycerides and insulin. Dilated pupils, hydronephrosis, and impaired contractility of smooth muscle are also observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 A T 17: 57,175,257 (GRCm39) M85K probably benign Het
Actn4 C T 7: 28,593,680 (GRCm39) A905T probably damaging Het
Aff1 T A 5: 103,994,967 (GRCm39) V1055D probably damaging Het
Aox3 A G 1: 58,160,228 (GRCm39) E137G possibly damaging Het
Apaf1 A T 10: 90,895,468 (GRCm39) D443E probably damaging Het
Arl5b C A 2: 15,072,983 (GRCm39) A28E probably damaging Het
Atg16l1 T C 1: 87,714,023 (GRCm39) V478A probably damaging Het
Atp6v1f G C 6: 29,468,105 (GRCm39) E13Q probably null Het
Atpaf1 A T 4: 115,647,827 (GRCm39) K162M probably damaging Het
C3 A T 17: 57,521,767 (GRCm39) L1100Q probably damaging Het
Ccr1 A G 9: 123,764,422 (GRCm39) L36P probably damaging Het
Cct3 T C 3: 88,216,503 (GRCm39) L153S probably benign Het
Chd4 A G 6: 125,105,822 (GRCm39) D1813G possibly damaging Het
Cnot2 A T 10: 116,328,303 (GRCm39) V477E probably damaging Het
Csf2rb2 T A 15: 78,176,760 (GRCm39) I211F possibly damaging Het
Dnah8 T C 17: 30,923,743 (GRCm39) L1237P possibly damaging Het
Dnttip2 T C 3: 122,069,175 (GRCm39) V130A probably benign Het
Dock10 G A 1: 80,501,497 (GRCm39) A1852V possibly damaging Het
Dock3 A G 9: 106,844,370 (GRCm39) V910A probably damaging Het
Drgx A G 14: 32,350,778 (GRCm39) S205G probably damaging Het
Fbrs G A 7: 127,088,633 (GRCm39) W738* probably null Het
Fmnl3 T A 15: 99,227,281 (GRCm39) D162V probably damaging Het
Fosl2 A G 5: 32,307,807 (GRCm39) R133G probably damaging Het
Frmpd1 A G 4: 45,256,948 (GRCm39) Q172R probably damaging Het
Fsd1l A T 4: 53,686,406 (GRCm39) D273V probably damaging Het
Fstl4 T A 11: 52,959,382 (GRCm39) M141K possibly damaging Het
Gcfc2 A G 6: 81,923,541 (GRCm39) D535G probably damaging Het
Gm19410 A C 8: 36,271,761 (GRCm39) D1277A probably benign Het
Gnmt T A 17: 47,037,066 (GRCm39) N211Y probably damaging Het
Hic2 A G 16: 17,075,993 (GRCm39) D274G probably damaging Het
Hnrnpu A G 1: 178,156,849 (GRCm39) probably benign Het
Icam5 T C 9: 20,948,201 (GRCm39) S670P probably benign Het
Ighv5-4 A T 12: 113,561,120 (GRCm39) L100Q probably damaging Het
Il17rb A T 14: 29,719,072 (GRCm39) S337T probably damaging Het
Inf2 G T 12: 112,576,172 (GRCm39) R883L unknown Het
Inhbc C T 10: 127,193,275 (GRCm39) C247Y probably damaging Het
Ints4 A G 7: 97,156,926 (GRCm39) K333E probably damaging Het
Iyd A T 10: 3,497,088 (GRCm39) I148F probably damaging Het
Klk1b26 A T 7: 43,664,193 (GRCm39) D16V probably damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lama2 A T 10: 27,088,222 (GRCm39) S852T probably benign Het
Mbtd1 A G 11: 93,834,622 (GRCm39) E600G probably benign Het
Mfap3 T G 11: 57,420,329 (GRCm39) N103K probably damaging Het
Mtor G A 4: 148,640,801 (GRCm39) E2536K possibly damaging Het
Mug2 G A 6: 122,056,685 (GRCm39) S1210N probably benign Het
Nat8 G A 6: 85,807,477 (GRCm39) L219F probably benign Het
Nisch A G 14: 30,893,658 (GRCm39) V1305A probably benign Het
Nup153 A T 13: 46,850,120 (GRCm39) probably null Het
Or3a1b G A 11: 74,012,811 (GRCm39) R232H probably benign Het
Otud6b A T 4: 14,825,858 (GRCm39) probably null Het
Pbld2 A G 10: 62,883,783 (GRCm39) T83A probably damaging Het
Pcx A T 19: 4,671,206 (GRCm39) M1144L probably benign Het
Pdpk1 C A 17: 24,329,874 (GRCm39) R81L probably benign Het
Pik3cd A T 4: 149,736,220 (GRCm39) probably null Het
Plch2 A C 4: 155,068,194 (GRCm39) D1477E probably damaging Het
Plek2 A G 12: 78,946,884 (GRCm39) I51T probably damaging Het
Plekhn1 A G 4: 156,315,142 (GRCm39) V505A probably benign Het
Pofut2 T C 10: 77,098,273 (GRCm39) S129P possibly damaging Het
Prdx5 C A 19: 6,887,370 (GRCm39) probably benign Het
Proca1 G T 11: 78,085,643 (GRCm39) probably benign Het
Ptprs A C 17: 56,721,793 (GRCm39) Y1752D probably damaging Het
Pum1 G A 4: 130,501,856 (GRCm39) V1127M probably damaging Het
Ralbp1 T C 17: 66,165,976 (GRCm39) R403G probably damaging Het
Reps1 A T 10: 17,969,635 (GRCm39) H246L possibly damaging Het
Rps6kc1 A C 1: 190,531,293 (GRCm39) M903R probably damaging Het
Rubcnl A G 14: 75,287,083 (GRCm39) T584A probably benign Het
Samd9l A T 6: 3,374,408 (GRCm39) V951E probably damaging Het
Sbf2 A G 7: 110,038,055 (GRCm39) F463L possibly damaging Het
Sdr16c6 G A 4: 4,076,921 (GRCm39) probably benign Het
Shoc1 A T 4: 59,076,264 (GRCm39) S560T probably benign Het
Slc26a8 A G 17: 28,867,177 (GRCm39) I548T probably benign Het
Slc2a13 T A 15: 91,456,883 (GRCm39) I140F probably damaging Het
Smtn A T 11: 3,481,200 (GRCm39) probably null Het
Sobp G T 10: 42,898,564 (GRCm39) C340* probably null Het
Sox6 A T 7: 115,149,258 (GRCm39) V413E probably benign Het
Spin1 T C 13: 51,277,326 (GRCm39) probably null Het
Sra1 T C 18: 36,800,536 (GRCm39) T224A probably benign Het
Sv2c A T 13: 96,185,056 (GRCm39) F207Y probably benign Het
Tcp10c T A 17: 13,581,503 (GRCm39) probably null Het
Tkt G A 14: 30,292,992 (GRCm39) G490S possibly damaging Het
Tpgs1 G T 10: 79,511,655 (GRCm39) A266S probably damaging Het
Tprg1 T G 16: 25,241,003 (GRCm39) S260A probably damaging Het
Trdv2-1 T A 14: 54,183,935 (GRCm39) W56R probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trpc4 T A 3: 54,225,450 (GRCm39) V933E probably benign Het
Ulk4 A T 9: 120,932,687 (GRCm39) M1051K possibly damaging Het
Unc119b A G 5: 115,272,743 (GRCm39) L76P probably damaging Het
Vmn2r15 G A 5: 109,445,394 (GRCm39) S10F probably benign Het
Vwce A G 19: 10,641,704 (GRCm39) E810G probably benign Het
Wdr7 T A 18: 63,910,451 (GRCm39) probably null Het
Wnk2 T A 13: 49,191,608 (GRCm39) E1283V probably benign Het
Zfp28 T C 7: 6,396,956 (GRCm39) C464R probably damaging Het
Zpld1 C T 16: 55,054,027 (GRCm39) C255Y probably damaging Het
Other mutations in Chrm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:Chrm3 APN 13 9,928,634 (GRCm39) missense possibly damaging 0.80
IGL02266:Chrm3 APN 13 9,927,314 (GRCm39) missense probably damaging 0.99
IGL02701:Chrm3 APN 13 9,928,500 (GRCm39) nonsense probably null
IGL03085:Chrm3 APN 13 9,927,570 (GRCm39) missense probably damaging 1.00
IGL03213:Chrm3 APN 13 9,928,220 (GRCm39) missense probably benign 0.22
R0147:Chrm3 UTSW 13 9,928,780 (GRCm39) missense probably damaging 1.00
R0408:Chrm3 UTSW 13 9,927,969 (GRCm39) missense probably benign 0.10
R0544:Chrm3 UTSW 13 9,927,615 (GRCm39) missense probably damaging 0.99
R1557:Chrm3 UTSW 13 9,928,350 (GRCm39) missense possibly damaging 0.82
R1647:Chrm3 UTSW 13 9,928,461 (GRCm39) missense probably damaging 1.00
R1697:Chrm3 UTSW 13 9,928,794 (GRCm39) missense probably damaging 1.00
R1791:Chrm3 UTSW 13 9,927,452 (GRCm39) missense probably damaging 1.00
R1866:Chrm3 UTSW 13 9,928,517 (GRCm39) missense probably damaging 1.00
R2049:Chrm3 UTSW 13 9,928,371 (GRCm39) missense probably damaging 1.00
R2909:Chrm3 UTSW 13 9,928,033 (GRCm39) missense probably benign 0.43
R4212:Chrm3 UTSW 13 9,927,791 (GRCm39) missense probably benign 0.01
R4422:Chrm3 UTSW 13 9,928,591 (GRCm39) nonsense probably null
R4790:Chrm3 UTSW 13 9,927,698 (GRCm39) missense probably benign 0.10
R4934:Chrm3 UTSW 13 9,927,450 (GRCm39) missense probably damaging 1.00
R5353:Chrm3 UTSW 13 9,928,593 (GRCm39) missense probably damaging 1.00
R5623:Chrm3 UTSW 13 9,927,423 (GRCm39) missense possibly damaging 0.92
R6154:Chrm3 UTSW 13 9,928,476 (GRCm39) missense possibly damaging 0.88
R6416:Chrm3 UTSW 13 9,927,698 (GRCm39) missense probably benign
R6693:Chrm3 UTSW 13 9,927,458 (GRCm39) missense probably benign 0.27
R7135:Chrm3 UTSW 13 9,927,837 (GRCm39) missense probably benign 0.00
R7297:Chrm3 UTSW 13 9,927,869 (GRCm39) missense probably benign 0.01
R7591:Chrm3 UTSW 13 9,927,349 (GRCm39) nonsense probably null
R8353:Chrm3 UTSW 13 9,927,267 (GRCm39) makesense probably null
R8355:Chrm3 UTSW 13 9,928,646 (GRCm39) missense probably damaging 1.00
R8446:Chrm3 UTSW 13 9,928,338 (GRCm39) missense probably damaging 0.99
R8453:Chrm3 UTSW 13 9,927,267 (GRCm39) makesense probably null
R9227:Chrm3 UTSW 13 9,928,479 (GRCm39) missense probably benign 0.00
R9230:Chrm3 UTSW 13 9,928,479 (GRCm39) missense probably benign 0.00
R9336:Chrm3 UTSW 13 9,928,652 (GRCm39) missense probably damaging 1.00
R9462:Chrm3 UTSW 13 9,927,437 (GRCm39) missense
R9537:Chrm3 UTSW 13 9,927,462 (GRCm39) missense probably damaging 1.00
R9586:Chrm3 UTSW 13 9,927,480 (GRCm39) missense probably damaging 1.00
X0066:Chrm3 UTSW 13 9,927,756 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCACAGGCTAAGTTCCCCAG -3'
(R):5'- ACAGTACAACCTCGCCTTTG -3'

Sequencing Primer
(F):5'- CCCAGCGGTTCATAATGATGTAG -3'
(R):5'- GCCTTTGTTTCCCAACATCAG -3'
Posted On 2019-10-07