Incidental Mutation 'IGL02266:Chrm3'
ID 286895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrm3
Ensembl Gene ENSMUSG00000046159
Gene Name cholinergic receptor, muscarinic 3, cardiac
Synonyms muscarinic acetylcholine receptor 3, Chrm-3, M3R
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock # IGL02266
Quality Score
Status
Chromosome 13
Chromosomal Location 9875486-10360847 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9877278 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 574 (Q574L)
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: Q574L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055579
Gene: ENSMUSG00000046159
AA Change: Q574L

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: Q574L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140131
Gene: ENSMUSG00000046159
AA Change: Q574L

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
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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,268,201 Q1974* probably null Het
Actl11 G T 9: 107,931,183 V902L possibly damaging Het
Adam11 T C 11: 102,772,667 V274A probably damaging Het
Akr1b8 A G 6: 34,354,273 I15V probably benign Het
Crk C A 11: 75,679,589 R16S probably damaging Het
Ep400 T C 5: 110,695,297 probably benign Het
Eya1 T C 1: 14,184,501 N369S possibly damaging Het
Fam220a T C 5: 143,563,571 V246A possibly damaging Het
Fastkd5 A T 2: 130,615,561 F370I probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gpr75 A C 11: 30,891,977 Q294P probably benign Het
Hspg2 T C 4: 137,510,577 F204L probably damaging Het
Lrrc8c A C 5: 105,608,248 I630L probably benign Het
Narfl T A 17: 25,780,326 I238N possibly damaging Het
Nlrc4 T C 17: 74,446,167 D407G possibly damaging Het
Olfr1054 T A 2: 86,332,979 I126F probably damaging Het
Olfr1314 G A 2: 112,092,243 L153F probably benign Het
Pank1 A C 19: 34,813,686 probably benign Het
Pde3b A G 7: 114,526,966 T812A probably damaging Het
Phtf2 T G 5: 20,805,799 K63Q probably damaging Het
Pkhd1l1 A T 15: 44,573,614 H3456L probably damaging Het
Plcd1 A G 9: 119,074,787 probably benign Het
Ppip5k2 C T 1: 97,733,972 V734I possibly damaging Het
Ppp2r2d A G 7: 138,868,437 N38S probably damaging Het
Rnpepl1 T A 1: 92,916,889 W368R probably damaging Het
Sidt1 T C 16: 44,254,985 D670G possibly damaging Het
Slc12a2 T A 18: 57,912,020 probably benign Het
Tekt5 A T 16: 10,379,042 I315N probably benign Het
Trappc11 A C 8: 47,505,731 C42G probably damaging Het
Trerf1 C T 17: 47,315,405 noncoding transcript Het
Ubqlnl C A 7: 104,149,547 E248* probably null Het
Ulk4 G T 9: 121,081,700 T1086K probably benign Het
Unc45a A T 7: 80,328,486 D680E probably damaging Het
Vmn2r107 T C 17: 20,356,777 Y346H probably damaging Het
Vmn2r73 A G 7: 85,875,799 I47T possibly damaging Het
Zbtb9 T C 17: 26,974,155 V178A probably benign Het
Zc3hav1 A T 6: 38,332,168 M573K probably benign Het
Zfp608 T C 18: 54,897,581 T1096A probably benign Het
Other mutations in Chrm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:Chrm3 APN 13 9878598 missense possibly damaging 0.80
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
R8355:Chrm3 UTSW 13 9878610 missense probably damaging 1.00
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
Posted On 2015-04-16