Incidental Mutation 'R9007:Chrm4'
ID 685344
Institutional Source Beutler Lab
Gene Symbol Chrm4
Ensembl Gene ENSMUSG00000040495
Gene Name cholinergic receptor, muscarinic 4
Synonyms Chrm-4, muscarinic acetylcholine receptor 4
MMRRC Submission 068837-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9007 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 91757594-91759033 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91758075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 161 (V161A)
Ref Sequence ENSEMBL: ENSMUSP00000040808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028672] [ENSMUST00000045537] [ENSMUST00000069423] [ENSMUST00000090602] [ENSMUST00000111309]
AlphaFold P32211
Predicted Effect probably benign
Transcript: ENSMUST00000028672
SMART Domains Protein: ENSMUSP00000028672
Gene: ENSMUSG00000027239

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
PTN 34 113 4.2e-53 SMART
low complexity region 120 139 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000045537
AA Change: V161A

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040808
Gene: ENSMUSG00000040495
AA Change: V161A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 42 248 5.7e-7 PFAM
Pfam:7tm_1 48 453 5.5e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069423
SMART Domains Protein: ENSMUSP00000068413
Gene: ENSMUSG00000027239

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
PTN 34 113 4.2e-53 SMART
low complexity region 120 139 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090602
SMART Domains Protein: ENSMUSP00000088090
Gene: ENSMUSG00000027239

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
PTN 34 113 4.2e-53 SMART
low complexity region 120 139 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111309
SMART Domains Protein: ENSMUSP00000106941
Gene: ENSMUSG00000027239

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
PTN 34 113 4.2e-53 SMART
low complexity region 120 139 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
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 clinical implications of this receptor are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show decreased body weight, hyperactivity, abnormalities in carbamylcholine-induced bradycardia and gallbladder contractility, and altered CNS synaptic transmission. Mice homozygous for a different null allele show loss of the anti-cataleptic effect of scopolamine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,226,935 (GRCm39) C497S probably benign Het
4930453N24Rik A T 16: 64,589,377 (GRCm39) Y92* probably null Het
Adam3 A G 8: 25,205,127 (GRCm39) V117A probably benign Het
Amer2 G C 14: 60,617,376 (GRCm39) D524H probably damaging Het
Armh4 T A 14: 50,011,695 (GRCm39) D4V probably damaging Het
Atp6v0a4 T C 6: 38,029,988 (GRCm39) K692R probably benign Het
Atp8b1 A G 18: 64,684,931 (GRCm39) V730A probably benign Het
Bdh2 T C 3: 134,991,309 (GRCm39) probably benign Het
Ccnd3 T A 17: 47,905,332 (GRCm39) probably null Het
Csmd3 T C 15: 47,751,892 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,087,930 (GRCm39) S349P probably benign Het
Ddx55 A G 5: 124,697,370 (GRCm39) N244S probably damaging Het
Dock1 A G 7: 134,500,825 (GRCm39) probably benign Het
Dppa3 T C 6: 122,605,724 (GRCm39) S93P probably damaging Het
Echdc1 T C 10: 29,220,426 (GRCm39) I217T probably damaging Het
Fpr-rs4 T A 17: 18,242,416 (GRCm39) L141Q probably damaging Het
Galnt15 T C 14: 31,771,935 (GRCm39) F451L probably damaging Het
Galnt9 G A 5: 110,692,665 (GRCm39) R33H probably benign Het
Iah1 G A 12: 21,367,402 (GRCm39) G36D probably damaging Het
Jakmip1 A G 5: 37,332,857 (GRCm39) D1179G probably benign Het
Kcnh1 A G 1: 192,188,055 (GRCm39) T866A probably benign Het
Kcnq4 T A 4: 120,555,150 (GRCm39) I678F probably benign Het
Lars2 A T 9: 123,260,980 (GRCm39) R384* probably null Het
Lman2 T C 13: 55,500,773 (GRCm39) D142G probably damaging Het
Lrp1b T C 2: 40,587,564 (GRCm39) D3897G Het
Lrrn1 T A 6: 107,544,820 (GRCm39) I206N probably damaging Het
Mapkbp1 T A 2: 119,850,143 (GRCm39) L802H probably damaging Het
Meaf6 T C 4: 125,001,450 (GRCm39) probably benign Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mis18bp1 G A 12: 65,180,616 (GRCm39) S955L probably benign Het
Mocs1 T A 17: 49,756,819 (GRCm39) M267K probably damaging Het
Mroh3 T A 1: 136,128,110 (GRCm39) Y263F probably damaging Het
Ndufs1 A T 1: 63,198,878 (GRCm39) probably benign Het
Nuak1 T C 10: 84,210,492 (GRCm39) Y532C probably damaging Het
Or51b6 A G 7: 103,556,165 (GRCm39) H170R Het
Or6c205 A T 10: 129,086,669 (GRCm39) T89S possibly damaging Het
Ost4 A G 5: 31,064,866 (GRCm39) V5A possibly damaging Het
P2rx1 T A 11: 72,900,059 (GRCm39) C159S probably damaging Het
Paqr8 T C 1: 21,005,614 (GRCm39) L256P possibly damaging Het
Pgls T A 8: 72,048,689 (GRCm39) probably benign Het
Pkd2l1 T C 19: 44,140,864 (GRCm39) E566G possibly damaging Het
Plau A T 14: 20,889,613 (GRCm39) H226L probably damaging Het
Rps18-ps5 A G 13: 28,441,872 (GRCm39) N85S probably damaging Het
Rraga T C 4: 86,494,675 (GRCm39) S174P probably damaging Het
Sacs T A 14: 61,445,185 (GRCm39) D2410E probably benign Het
Sgms1 A T 19: 32,137,227 (GRCm39) M113K probably benign Het
Skint6 C A 4: 113,095,347 (GRCm39) G104V probably damaging Het
Spata31f1e C T 4: 42,792,546 (GRCm39) G529S probably benign Het
Sqor T A 2: 122,649,876 (GRCm39) Y373* probably null Het
Stra6l T A 4: 45,864,910 (GRCm39) S79T possibly damaging Het
Svep1 T C 4: 58,091,915 (GRCm39) I1573M possibly damaging Het
Syne2 A G 12: 76,146,224 (GRCm39) D1674G possibly damaging Het
Tex26 C A 5: 149,376,884 (GRCm39) T91N probably damaging Het
Tigd2 T G 6: 59,187,887 (GRCm39) S251R probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tnks1bp1 T A 2: 84,901,048 (GRCm39) L1585Q probably damaging Het
Trmt10c A G 16: 55,855,542 (GRCm39) V31A probably benign Het
Ttc41 T C 10: 86,569,625 (GRCm39) S668P probably damaging Het
Uggt2 A T 14: 119,326,724 (GRCm39) D162E probably damaging Het
Vmn1r125 G C 7: 21,006,503 (GRCm39) V134L probably benign Het
Vmn1r225 T A 17: 20,723,449 (GRCm39) F297I probably damaging Het
Vps13c A G 9: 67,845,006 (GRCm39) D2030G probably benign Het
Other mutations in Chrm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02064:Chrm4 APN 2 91,758,176 (GRCm39) missense probably damaging 1.00
R0437:Chrm4 UTSW 2 91,758,788 (GRCm39) missense possibly damaging 0.89
R0755:Chrm4 UTSW 2 91,758,747 (GRCm39) missense probably benign 0.02
R1972:Chrm4 UTSW 2 91,757,838 (GRCm39) missense probably benign 0.00
R2233:Chrm4 UTSW 2 91,758,875 (GRCm39) missense probably benign 0.01
R2235:Chrm4 UTSW 2 91,758,875 (GRCm39) missense probably benign 0.01
R2902:Chrm4 UTSW 2 91,758,302 (GRCm39) missense probably benign 0.00
R3115:Chrm4 UTSW 2 91,757,705 (GRCm39) missense probably benign 0.06
R3907:Chrm4 UTSW 2 91,758,084 (GRCm39) missense probably damaging 0.98
R4839:Chrm4 UTSW 2 91,757,952 (GRCm39) missense probably damaging 1.00
R7033:Chrm4 UTSW 2 91,758,692 (GRCm39) missense probably benign 0.01
R7242:Chrm4 UTSW 2 91,757,595 (GRCm39) start codon destroyed probably null 0.86
R7707:Chrm4 UTSW 2 91,757,699 (GRCm39) missense probably benign 0.01
R8066:Chrm4 UTSW 2 91,758,042 (GRCm39) missense probably damaging 1.00
R8076:Chrm4 UTSW 2 91,758,204 (GRCm39) missense probably damaging 1.00
R8293:Chrm4 UTSW 2 91,758,563 (GRCm39) missense probably benign 0.00
R8784:Chrm4 UTSW 2 91,758,033 (GRCm39) missense probably benign 0.16
R9113:Chrm4 UTSW 2 91,758,075 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- ATACATCATCAAGGGCTACTGG -3'
(R):5'- GATGCTTGTGAACACGGCTG -3'

Sequencing Primer
(F):5'- GTGCCGTGGTCTGTGAC -3'
(R):5'- GCTGGCCAGCGAGATATGAATATAC -3'
Posted On 2021-10-11