Incidental Mutation 'R8355:Chrm3'
ID 660298
Institutional Source Beutler Lab
Gene Symbol Chrm3
Ensembl Gene ENSMUSG00000046159
Gene Name cholinergic receptor, muscarinic 3, cardiac
Synonyms muscarinic acetylcholine receptor 3, Chrm-3, M3R
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R8355 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 9875486-10360847 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9878610 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 130 (M130K)
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: M130K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055579
Gene: ENSMUSG00000046159
AA Change: M130K

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: M130K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140131
Gene: ENSMUSG00000046159
AA Change: M130K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (48/49)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930539E08Rik T A 17: 28,903,275 Q414L probably damaging Het
AA792892 T C 5: 94,383,913 C219R probably damaging Het
Abcc9 A T 6: 142,692,752 H145Q probably benign Het
Acsf2 A T 11: 94,570,624 M293K probably benign Het
Ak9 G A 10: 41,399,704 R1112Q Het
Ano8 T C 8: 71,480,566 probably benign Het
Ap3b2 A T 7: 81,473,103 V462E probably damaging Het
Arid1a T C 4: 133,720,863 Q498R unknown Het
AW011738 C A 4: 156,203,380 probably benign Het
Bhlhe41 T A 6: 145,865,302 probably null Het
Bnc1 A C 7: 81,968,876 S814A probably damaging Het
Cage1 A T 13: 38,019,249 L613H probably damaging Het
Camk1g T C 1: 193,351,047 I231V probably damaging Het
Catspere2 T C 1: 178,017,710 Y99H possibly damaging Het
Ccdc50 A G 16: 27,417,351 Y145C probably benign Het
Cdcp1 A G 9: 123,173,823 S728P probably benign Het
Csf1r T C 18: 61,128,150 F766S probably damaging Het
Dact3 A G 7: 16,883,200 D108G probably damaging Het
Dnaaf5 ACCCAGCACCTGGAGATCGTCC ACC 5: 139,161,859 probably null Het
Dnah8 A C 17: 30,695,178 L1099F possibly damaging Het
Ggnbp2 C T 11: 84,837,989 probably null Het
Gk5 T C 9: 96,150,786 V274A possibly damaging Het
Gm14124 T A 2: 150,267,956 C189S unknown Het
Gnpat T C 8: 124,870,840 F47S probably benign Het
Gsap G T 5: 21,251,019 G374* probably null Het
Gtf2h2 A T 13: 100,468,995 F368Y possibly damaging Het
Gvin1 A T 7: 106,158,105 W2386R possibly damaging Het
Ighe A T 12: 113,271,547 L331* probably null Het
Itch T A 2: 155,210,582 probably null Het
K230010J24Rik C A 15: 76,034,224 Q87K probably benign Het
Lars2 G A 9: 123,454,715 A683T probably damaging Het
Lin7a C T 10: 107,382,636 R14C probably damaging Het
Lrp2 C T 2: 69,516,484 S806N probably damaging Het
Lrrc8e T A 8: 4,234,018 M81K probably benign Het
Mcm3ap C A 10: 76,493,501 T1172K probably benign Het
Mrm3 A T 11: 76,250,338 M391L possibly damaging Het
Myo9a T C 9: 59,909,847 S2278P probably damaging Het
Ncln T C 10: 81,487,869 K511E probably damaging Het
Olfr1390 G T 11: 49,340,765 V78L possibly damaging Het
Olfr888 A G 9: 38,108,962 K87R probably benign Het
Pcdhb10 G T 18: 37,412,081 G70V probably damaging Het
Phf24 A G 4: 42,933,735 E39G probably benign Het
Plat C A 8: 22,771,742 S52* probably null Het
Ptpru C A 4: 131,808,500 G389C probably damaging Het
Rnpep T C 1: 135,267,267 D407G probably damaging Het
Rttn G A 18: 89,028,892 V893I probably benign Het
Slit1 A G 19: 41,646,034 L428P probably damaging Het
Tet1 T A 10: 62,816,450 L1596F possibly damaging Het
Thsd7b T C 1: 129,595,879 C140R probably damaging Het
Usp17le A T 7: 104,769,545 M130K possibly damaging Het
Vmn2r92 T G 17: 18,184,799 I735S probably damaging Het
Zbtb42 A T 12: 112,679,535 Y48F probably damaging Het
Zbtb43 C T 2: 33,455,108 G35D possibly damaging Het
Other mutations in Chrm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:Chrm3 APN 13 9878598 missense possibly damaging 0.80
IGL02266:Chrm3 APN 13 9877278 missense probably damaging 0.99
IGL02701:Chrm3 APN 13 9878464 nonsense probably null
IGL03085:Chrm3 APN 13 9877534 missense probably damaging 1.00
IGL03213:Chrm3 APN 13 9878184 missense probably benign 0.22
R0147:Chrm3 UTSW 13 9878744 missense probably damaging 1.00
R0408:Chrm3 UTSW 13 9877933 missense probably benign 0.10
R0544:Chrm3 UTSW 13 9877579 missense probably damaging 0.99
R1557:Chrm3 UTSW 13 9878314 missense possibly damaging 0.82
R1647:Chrm3 UTSW 13 9878425 missense probably damaging 1.00
R1697:Chrm3 UTSW 13 9878758 missense probably damaging 1.00
R1791:Chrm3 UTSW 13 9877416 missense probably damaging 1.00
R1866:Chrm3 UTSW 13 9878481 missense probably damaging 1.00
R2049:Chrm3 UTSW 13 9878335 missense probably damaging 1.00
R2909:Chrm3 UTSW 13 9877997 missense probably benign 0.43
R4212:Chrm3 UTSW 13 9877755 missense probably benign 0.01
R4422:Chrm3 UTSW 13 9878555 nonsense probably null
R4790:Chrm3 UTSW 13 9877662 missense probably benign 0.10
R4934:Chrm3 UTSW 13 9877414 missense probably damaging 1.00
R5353:Chrm3 UTSW 13 9878557 missense probably damaging 1.00
R5623:Chrm3 UTSW 13 9877387 missense possibly damaging 0.92
R6154:Chrm3 UTSW 13 9878440 missense possibly damaging 0.88
R6416:Chrm3 UTSW 13 9877662 missense probably benign
R6693:Chrm3 UTSW 13 9877422 missense probably benign 0.27
R7135:Chrm3 UTSW 13 9877801 missense probably benign 0.00
R7297:Chrm3 UTSW 13 9877833 missense probably benign 0.01
R7423:Chrm3 UTSW 13 9878809 missense probably benign
R7591:Chrm3 UTSW 13 9877313 nonsense probably null
R8353:Chrm3 UTSW 13 9877231 makesense probably null
R8446:Chrm3 UTSW 13 9878302 missense probably damaging 0.99
R8453:Chrm3 UTSW 13 9877231 makesense probably null
R9227:Chrm3 UTSW 13 9878443 missense probably benign 0.00
R9230:Chrm3 UTSW 13 9878443 missense probably benign 0.00
R9336:Chrm3 UTSW 13 9878616 missense probably damaging 1.00
R9462:Chrm3 UTSW 13 9877401 missense
R9537:Chrm3 UTSW 13 9877426 missense probably damaging 1.00
R9586:Chrm3 UTSW 13 9877444 missense probably damaging 1.00
X0066:Chrm3 UTSW 13 9877720 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CATCACACCGGCTCGTTTTG -3'
(R):5'- TGGGAATTTCTCCTCAAATGACAC -3'

Sequencing Primer
(F):5'- ACACCGGCTCGTTTTGTTGTTC -3'
(R):5'- ACACCATCTGGCAAGTGGTC -3'
Posted On 2021-01-18