Incidental Mutation 'R9113:Chrm4'
ID 692342
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 068920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9113 (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 A at 91758075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 161 (V161E)
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 probably benign
Transcript: ENSMUST00000045537
AA Change: V161E

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000040808
Gene: ENSMUSG00000040495
AA Change: V161E

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: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (50/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,591,656 (GRCm39) I791F probably damaging Het
Adamts15 A G 9: 30,822,498 (GRCm39) M389T probably damaging Het
Adgrb2 G A 4: 129,910,877 (GRCm39) V1065M probably damaging Het
Agbl1 C A 7: 76,239,225 (GRCm39) A827E unknown Het
Alox5ap T C 5: 149,216,015 (GRCm39) F67S probably damaging Het
Ankrd11 T C 8: 123,614,072 (GRCm39) N2566S possibly damaging Het
Arhgap10 T C 8: 77,985,701 (GRCm39) D722G probably damaging Het
Atp5mf A G 5: 145,128,315 (GRCm39) L4P probably benign Het
Bean1 T C 8: 104,940,557 (GRCm39) V130A probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cdhr2 A G 13: 54,882,700 (GRCm39) D1222G probably benign Het
Ckap5 T C 2: 91,426,144 (GRCm39) S1335P probably damaging Het
Col11a1 T A 3: 113,888,192 (GRCm39) Y267* probably null Het
Col14a1 T C 15: 55,201,825 (GRCm39) Y38H unknown Het
Coro2a C T 4: 46,563,047 (GRCm39) G36S Het
Ctsc A T 7: 87,959,104 (GRCm39) K461N possibly damaging Het
Dcaf1 A G 9: 106,712,831 (GRCm39) probably benign Het
Dnah9 A G 11: 65,880,713 (GRCm39) I2628T probably damaging Het
Dnajb5 T C 4: 42,953,233 (GRCm39) I20T probably damaging Het
Dus2 C T 8: 106,775,333 (GRCm39) Q287* probably null Het
Fbxl17 A G 17: 63,532,085 (GRCm39) V586A probably benign Het
Glg1 A T 8: 111,887,452 (GRCm39) probably benign Het
Gm4924 G A 10: 82,214,113 (GRCm39) C637Y unknown Het
Gorasp1 A G 9: 119,757,442 (GRCm39) F310S probably damaging Het
Gsta5 A T 9: 78,212,667 (GRCm39) I213F probably benign Het
Igfn1 G A 1: 135,883,328 (GRCm39) T2726I probably damaging Het
Inppl1 G T 7: 101,475,231 (GRCm39) P940Q probably benign Het
Klk1b22 G A 7: 43,765,692 (GRCm39) V183M possibly damaging Het
Krt12 A G 11: 99,309,378 (GRCm39) M294T probably damaging Het
Krtap6-2 GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA 16: 89,216,613 (GRCm39) probably benign Het
Lep T C 6: 29,071,093 (GRCm39) L139P probably damaging Het
Ltn1 T C 16: 87,224,532 (GRCm39) D64G probably damaging Het
Lyzl1 C T 18: 4,168,604 (GRCm39) A28V probably null Het
Mcam T C 9: 44,051,693 (GRCm39) V483A probably benign Het
Mia2 C T 12: 59,217,053 (GRCm39) probably benign Het
Mzf1 T A 7: 12,778,279 (GRCm39) H454L probably damaging Het
Pde10a A G 17: 9,197,782 (GRCm39) T742A probably benign Het
Rapgef4 A G 2: 71,861,493 (GRCm39) Y61C probably benign Het
Ryr2 A T 13: 11,618,741 (GRCm39) probably benign Het
Setbp1 G T 18: 78,900,948 (GRCm39) H906Q probably damaging Het
Slc12a4 A G 8: 106,670,984 (GRCm39) V1032A probably benign Het
Slc6a15 T C 10: 103,236,140 (GRCm39) M285T probably damaging Het
Spata31h1 G A 10: 82,131,352 (GRCm39) Q553* probably null Het
Steap2 A G 5: 5,727,475 (GRCm39) Y287H probably damaging Het
Tas2r135 T G 6: 42,383,315 (GRCm39) F285V probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Ttn T C 2: 76,618,538 (GRCm39) T16249A probably benign Het
Usp8 A G 2: 126,579,343 (GRCm39) T299A probably benign Het
Vmn2r101 A G 17: 19,811,288 (GRCm39) I457M possibly damaging Het
Vps41 A G 13: 19,023,883 (GRCm39) E437G probably benign Het
Zfp638 A T 6: 83,953,894 (GRCm39) E1333V probably damaging 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
R9007:Chrm4 UTSW 2 91,758,075 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- ACATCATCAAGGGCTACTGGC -3'
(R):5'- GATGCTTGTGAACACGGCTG -3'

Sequencing Primer
(F):5'- GTGCCGTGGTCTGTGAC -3'
(R):5'- GCTGGCCAGCGAGATATGAATATAC -3'
Posted On 2021-12-30