Incidental Mutation 'IGL03085:Chrm3'
ID 418046
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, M3R, Chrm-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL03085
Quality Score
Status
Chromosome 13
Chromosomal Location 9925522-10410883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 9927570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 489 (A489T)
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: A489T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055579
Gene: ENSMUSG00000046159
AA Change: A489T

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: A489T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140131
Gene: ENSMUSG00000046159
AA Change: A489T

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A T 14: 64,208,881 (GRCm39) H230Q probably benign Het
Aagab T A 9: 63,546,316 (GRCm39) probably benign Het
Actl11 G T 9: 107,806,749 (GRCm39) K357N probably damaging Het
Aktip A G 8: 91,852,651 (GRCm39) probably null Het
Amtn A G 5: 88,529,501 (GRCm39) probably benign Het
Arhgap21 T A 2: 20,919,532 (GRCm39) M58L probably benign Het
Art2b T A 7: 101,229,785 (GRCm39) Y38F probably damaging Het
Asb10 T C 5: 24,744,601 (GRCm39) probably benign Het
Atm A T 9: 53,395,471 (GRCm39) D1699E possibly damaging Het
Azi2 A C 9: 117,888,214 (GRCm39) K259T probably damaging Het
Bcas3 A G 11: 85,367,609 (GRCm39) D77G probably damaging Het
Birc6 G A 17: 74,903,945 (GRCm39) R1246H probably damaging Het
Cdh13 C A 8: 120,015,463 (GRCm39) D559E probably damaging Het
Ckap2l A T 2: 129,126,967 (GRCm39) Y404N probably benign Het
Col18a1 A G 10: 76,895,015 (GRCm39) probably benign Het
Col4a1 T A 8: 11,272,198 (GRCm39) K731* probably null Het
Corin A T 5: 72,511,273 (GRCm39) C360S probably damaging Het
Cyp1a1 A C 9: 57,608,995 (GRCm39) H292P possibly damaging Het
Dennd5b A G 6: 148,928,893 (GRCm39) V760A probably damaging Het
Dhx57 T C 17: 80,565,526 (GRCm39) D842G possibly damaging Het
Emp2 C A 16: 10,105,910 (GRCm39) probably benign Het
Eral1 G A 11: 77,969,093 (GRCm39) R136C probably damaging Het
Fat2 T A 11: 55,174,072 (GRCm39) M2214L probably benign Het
Flnb G A 14: 7,882,211 (GRCm38) R304H probably benign Het
G6pd2 A T 5: 61,967,645 (GRCm39) E473D probably benign Het
Gpx8 A G 13: 113,179,795 (GRCm39) Y169H probably damaging Het
Ighv1-64 A G 12: 115,471,461 (GRCm39) S19P possibly damaging Het
Ikbkb G T 8: 23,172,802 (GRCm39) N139K probably benign Het
Inpp5b A T 4: 124,686,115 (GRCm39) T720S probably benign Het
Kmt2d C A 15: 98,737,821 (GRCm39) probably benign Het
Lrig2 G A 3: 104,374,575 (GRCm39) P169S probably damaging Het
Magi3 T A 3: 103,922,655 (GRCm39) K1354I possibly damaging Het
Mapk9 A T 11: 49,757,865 (GRCm39) D103V probably damaging Het
Mrpl46 A T 7: 78,431,333 (GRCm39) I75N probably damaging Het
Or3a1c T A 11: 74,046,511 (GRCm39) I177N probably damaging Het
Or8b41 A G 9: 38,054,479 (GRCm39) E16G probably damaging Het
Or8d2b G A 9: 38,788,959 (GRCm39) M162I probably benign Het
Otog G T 7: 45,955,346 (GRCm39) probably null Het
Pex11a A G 7: 79,387,523 (GRCm39) L103P probably damaging Het
Pnpla8 A G 12: 44,358,305 (GRCm39) T687A probably benign Het
Ppm1d A G 11: 85,227,989 (GRCm39) I302V probably null Het
Prdm11 C A 2: 92,805,304 (GRCm39) V549F possibly damaging Het
Prss54 G A 8: 96,292,258 (GRCm39) P107L probably benign Het
Rasa3 T A 8: 13,635,690 (GRCm39) N422I probably benign Het
Rbm27 T C 18: 42,460,589 (GRCm39) probably benign Het
Rpl13-ps3 A T 14: 59,131,156 (GRCm39) noncoding transcript Het
Rps6ka2 G A 17: 7,562,679 (GRCm39) probably null Het
Sphkap T A 1: 83,258,075 (GRCm39) I223F possibly damaging Het
Srm T C 4: 148,677,838 (GRCm39) F159L probably damaging Het
Stt3a A G 9: 36,644,266 (GRCm39) probably benign Het
Tacr3 T C 3: 134,638,027 (GRCm39) S395P possibly damaging Het
Tecpr2 A G 12: 110,921,260 (GRCm39) probably benign Het
Tmub1 C T 5: 24,651,096 (GRCm39) G188S probably damaging Het
Trim66 T A 7: 109,057,952 (GRCm39) I877F probably benign Het
Ubr5 T C 15: 38,029,812 (GRCm39) E471G probably damaging Het
Vmn1r218 A T 13: 23,321,481 (GRCm39) Y196F possibly damaging Het
Vmn2r89 T A 14: 51,689,615 (GRCm39) D39E probably damaging Het
Wee1 C A 7: 109,723,805 (GRCm39) P240Q probably damaging Het
Zc3h12a A T 4: 125,020,813 (GRCm39) V10D probably benign Het
Zzef1 T C 11: 72,746,350 (GRCm39) probably benign 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
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
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
Posted On 2016-08-02