Incidental Mutation 'R0147:Chrm3'
ID 22637
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 038431-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R0147 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 13
Chromosomal Location 9925522-10410883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 9928780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 85 (N85K)
Ref Sequence ENSEMBL: ENSMUSP00000140131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063093] [ENSMUST00000187510]
AlphaFold Q9ERZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000063093
AA Change: N85K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055579
Gene: ENSMUSG00000046159
AA Change: N85K

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 damaging
Transcript: ENSMUST00000187510
AA Change: N85K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140131
Gene: ENSMUSG00000046159
AA Change: N85K

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 0.9104 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 94.5%
  • 20x: 86.1%
Validation Efficiency 67% (88/131)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,639,405 (GRCm39) probably null Het
Abtb2 A G 2: 103,397,480 (GRCm39) I137V probably benign Het
Ank1 T A 8: 23,613,993 (GRCm39) N1545K probably damaging Het
Arl6 T C 16: 59,439,153 (GRCm39) probably benign Het
Avl9 T A 6: 56,713,487 (GRCm39) D248E probably benign Het
Becn1 T C 11: 101,192,562 (GRCm39) E40G probably damaging Het
Bod1l G T 5: 41,976,040 (GRCm39) A1758E possibly damaging Het
Btbd16 C T 7: 130,381,324 (GRCm39) T19I probably damaging Het
Casc3 T A 11: 98,713,325 (GRCm39) N246K possibly damaging Het
Celf1 G T 2: 90,835,035 (GRCm39) probably benign Het
Cluh T A 11: 74,556,764 (GRCm39) Y935N probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col6a5 T C 9: 105,802,993 (GRCm39) D1324G unknown Het
Ctcfl T C 2: 172,960,340 (GRCm39) D81G possibly damaging Het
D630003M21Rik C T 2: 158,044,987 (GRCm39) probably benign Het
Ddx39a C T 8: 84,449,105 (GRCm39) R298C possibly damaging Het
Dnmt3b T G 2: 153,503,377 (GRCm39) N9K possibly damaging Het
Dock8 T C 19: 25,096,823 (GRCm39) L577P probably benign Het
Drc1 A T 5: 30,486,487 (GRCm39) N13I possibly damaging Het
Eml4 T A 17: 83,729,081 (GRCm39) N85K probably damaging Het
Epb41l4a T C 18: 33,931,853 (GRCm39) T581A probably damaging Het
Epha3 T C 16: 63,433,307 (GRCm39) D446G possibly damaging Het
Fam209 G T 2: 172,315,900 (GRCm39) G92C probably damaging Het
Fam98c T A 7: 28,852,146 (GRCm39) R340* probably null Het
Fbxw10 T G 11: 62,738,307 (GRCm39) probably null Het
Galr1 A G 18: 82,423,695 (GRCm39) L194P probably benign Het
Gar1 T C 3: 129,623,122 (GRCm39) H89R probably damaging Het
Gbp4 T A 5: 105,267,362 (GRCm39) Y519F probably benign Het
Gm28042 T A 2: 119,866,944 (GRCm39) S196T probably benign Het
Grid2 T C 6: 64,510,571 (GRCm39) Y734H probably benign Het
Grm6 T A 11: 50,750,144 (GRCm39) I466N possibly damaging Het
Hectd3 T C 4: 116,854,237 (GRCm39) probably benign Het
Hpse2 A C 19: 42,920,099 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,302 (GRCm39) I148T probably damaging Het
Htr1d C A 4: 136,170,788 (GRCm39) T339K probably damaging Het
Ip6k1 T A 9: 107,923,093 (GRCm39) D408E probably damaging Het
Irs2 A T 8: 11,057,568 (GRCm39) M288K probably damaging Het
Kansl3 A T 1: 36,392,897 (GRCm39) C225S probably damaging Het
Knop1 C A 7: 118,445,061 (GRCm39) R301L probably benign Het
Lama5 T C 2: 179,832,199 (GRCm39) H1714R probably benign Het
Mettl14 G A 3: 123,165,043 (GRCm39) T316I probably damaging Het
Mmp15 A T 8: 96,098,945 (GRCm39) N591Y probably benign Het
Mprip T A 11: 59,627,899 (GRCm39) D93E possibly damaging Het
Mtmr14 T A 6: 113,237,627 (GRCm39) probably benign Het
Muc5ac T C 7: 141,364,776 (GRCm39) S1917P probably benign Het
Muc6 C T 7: 141,238,255 (GRCm39) C75Y probably damaging Het
Naip1 A T 13: 100,563,418 (GRCm39) H582Q possibly damaging Het
Nbeal2 G A 9: 110,471,211 (GRCm39) R264* probably null Het
Neb T C 2: 52,139,388 (GRCm39) K140E probably damaging Het
Nfya A G 17: 48,706,026 (GRCm39) V48A possibly damaging Het
Ngf G T 3: 102,417,119 (GRCm39) probably benign Het
Nsmce2 T G 15: 59,250,806 (GRCm39) S26A probably damaging Het
Or52s19 T C 7: 103,007,613 (GRCm39) T263A possibly damaging Het
Or5m13b T A 2: 85,754,362 (GRCm39) I250N possibly damaging Het
Or7e177 T G 9: 20,212,387 (GRCm39) M297R probably damaging Het
Pax1 A G 2: 147,215,654 (GRCm39) S424G probably benign Het
Pcdhb19 A T 18: 37,630,235 (GRCm39) Q10L probably benign Het
Pdcl T C 2: 37,242,142 (GRCm39) I203V probably benign Het
Pknox1 T A 17: 31,823,764 (GRCm39) N379K probably benign Het
Plxna1 C T 6: 89,297,692 (GRCm39) A1831T possibly damaging Het
Prodh T G 16: 17,895,677 (GRCm39) Q360P probably damaging Het
Pygo2 T C 3: 89,340,610 (GRCm39) V299A probably damaging Het
Raf1 C T 6: 115,609,934 (GRCm39) G202S probably benign Het
Rgs11 T A 17: 26,426,433 (GRCm39) probably null Het
Rmc1 C T 18: 12,322,328 (GRCm39) R594C probably damaging Het
Rnf13 A G 3: 57,709,889 (GRCm39) D144G probably damaging Het
Rtel1 T C 2: 180,962,839 (GRCm39) C31R probably damaging Het
Rubcnl T A 14: 75,279,898 (GRCm39) I427K probably damaging Het
Sec23ip C T 7: 128,380,775 (GRCm39) probably benign Het
Slc25a26 T A 6: 94,569,507 (GRCm39) probably null Het
Slc6a7 A G 18: 61,135,183 (GRCm39) probably benign Het
Slco6b1 A T 1: 96,915,562 (GRCm39) noncoding transcript Het
Spata17 A G 1: 186,844,798 (GRCm39) V111A probably damaging Het
Spata22 T A 11: 73,221,979 (GRCm39) M1K probably null Het
Svep1 C T 4: 58,116,608 (GRCm39) D881N possibly damaging Het
Sypl2 T A 3: 108,126,411 (GRCm39) N67I possibly damaging Het
Tasor A G 14: 27,193,725 (GRCm39) D975G probably benign Het
Tenm3 T C 8: 48,689,755 (GRCm39) Y1944C probably damaging Het
Tm9sf4 G T 2: 153,037,233 (GRCm39) V365L probably benign Het
Tmc3 T C 7: 83,256,950 (GRCm39) V401A probably damaging Het
Trpm2 C T 10: 77,761,659 (GRCm39) G997D probably damaging Het
Unc5b A T 10: 60,608,076 (GRCm39) S675T probably damaging Het
Vmn1r217 A G 13: 23,298,107 (GRCm39) M265T probably benign Het
Vps54 T A 11: 21,250,259 (GRCm39) D548E probably benign Het
Wdfy3 A G 5: 102,065,277 (GRCm39) V1297A probably benign Het
Wdr46 T A 17: 34,159,997 (GRCm39) F70I probably benign Het
Zdbf2 C T 1: 63,343,165 (GRCm39) Q515* probably null Het
Zfp710 T A 7: 79,731,721 (GRCm39) C299* probably null 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
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
R7423:Chrm3 UTSW 13 9,928,845 (GRCm39) missense probably benign
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'- GGCCACATAGTCAATGGAAAGCCAG -3'
(R):5'- TCAGAGAGTCACAATGACCTTGCAC -3'

Sequencing Primer
(F):5'- CCAGAGGTCACAGGCTAAGTTC -3'
(R):5'- GTAACAGTACAACCTCGCCTTTG -3'
Posted On 2013-04-16