Incidental Mutation 'R6827:Trpm4'
ID 534204
Institutional Source Beutler Lab
Gene Symbol Trpm4
Ensembl Gene ENSMUSG00000038260
Gene Name transient receptor potential cation channel, subfamily M, member 4
Synonyms 1110030C19Rik, TRPM4B, LTRPC4
MMRRC Submission 044938-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R6827 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 44952579-44983495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44968052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 293 (E293G)
Ref Sequence ENSEMBL: ENSMUSP00000147793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042194] [ENSMUST00000211431] [ENSMUST00000211743]
AlphaFold Q7TN37
Predicted Effect possibly damaging
Transcript: ENSMUST00000042194
AA Change: E440G

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260
AA Change: E440G

DomainStartEndE-ValueType
low complexity region 118 131 N/A INTRINSIC
SCOP:d1awcb_ 378 465 2e-3 SMART
low complexity region 600 612 N/A INTRINSIC
low complexity region 637 645 N/A INTRINSIC
transmembrane domain 688 710 N/A INTRINSIC
Pfam:Ion_trans 781 1051 1.8e-13 PFAM
low complexity region 1089 1096 N/A INTRINSIC
low complexity region 1191 1208 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211431
Predicted Effect possibly damaging
Transcript: ENSMUST00000211743
AA Change: E293G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular calcium concentration, but this channel does not transport calcium. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-out allele display increased Ca2+ influx and IgE-dependent mast cell activation, increased vascular permeability, and enhanced acute anaphylactic responses. Mice homozygous for a different knock-out allele show Ca2+ overload and impaired dendritic cell migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef26 C A 3: 62,330,919 (GRCm39) probably null Het
Asb3 A G 11: 31,051,211 (GRCm39) N555S probably benign Het
Bcr T C 10: 74,966,896 (GRCm39) V501A probably damaging Het
Cchcr1 A G 17: 35,841,302 (GRCm39) T773A possibly damaging Het
Dmxl1 C T 18: 50,054,091 (GRCm39) P2566S probably damaging Het
Dscam T A 16: 96,840,191 (GRCm39) N139Y probably damaging Het
Ephx1 A G 1: 180,817,453 (GRCm39) L406P probably damaging Het
Fbxl13 T A 5: 21,727,176 (GRCm39) I607F probably damaging Het
Gm3573 T A 14: 42,010,429 (GRCm39) T59S probably benign Het
Gm572 T C 4: 148,742,543 (GRCm39) L94P possibly damaging Het
Gypa A T 8: 81,231,417 (GRCm39) M109L probably benign Het
Hk3 C A 13: 55,159,165 (GRCm39) V409L probably damaging Het
Kcnh6 A G 11: 105,899,925 (GRCm39) T65A probably benign Het
Kdr G T 5: 76,105,205 (GRCm39) P1055Q probably damaging Het
Lef1 T C 3: 130,994,053 (GRCm39) probably null Het
Lrrc10 A G 10: 116,881,545 (GRCm39) Q73R possibly damaging Het
Moxd1 C T 10: 24,155,748 (GRCm39) T284I probably benign Het
Naf1 A T 8: 67,330,343 (GRCm39) T290S possibly damaging Het
Naip5 C A 13: 100,382,437 (GRCm39) V91L possibly damaging Het
Ncaph2 T C 15: 89,255,530 (GRCm39) V568A probably damaging Het
Ntrk2 T C 13: 59,274,382 (GRCm39) W753R probably damaging Het
Or51v15-ps1 C A 7: 103,279,032 (GRCm39) C45F possibly damaging Het
Pbld1 C A 10: 62,903,212 (GRCm39) N96K probably damaging Het
Pcdhac2 G A 18: 37,277,706 (GRCm39) V229M probably benign Het
Prrc2b G T 2: 32,090,963 (GRCm39) R445L probably benign Het
Scyl2 T C 10: 89,505,666 (GRCm39) probably null Het
Sdf2l1 C G 16: 16,950,158 (GRCm39) R6P probably benign Het
Slc22a5 A T 11: 53,762,442 (GRCm39) I21N possibly damaging Het
Tex51 C T 18: 32,591,713 (GRCm39) W186* probably null Het
Tmem168 A T 6: 13,582,837 (GRCm39) F297L probably damaging Het
Trps1 T A 15: 50,685,959 (GRCm39) T69S probably benign Het
Ubxn4 T C 1: 128,204,714 (GRCm39) M468T probably benign Het
Unc5b C A 10: 60,616,011 (GRCm39) R104L probably benign Het
Wfdc3 C T 2: 164,576,178 (GRCm39) G38R possibly damaging Het
Wnt2b A G 3: 104,854,408 (GRCm39) V350A probably benign Het
Zfp518b T C 5: 38,828,882 (GRCm39) Q1041R probably damaging Het
Zranb1 T C 7: 132,551,474 (GRCm39) F68L probably benign Het
Other mutations in Trpm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Trpm4 APN 7 44,967,773 (GRCm39) missense probably benign
IGL01327:Trpm4 APN 7 44,964,497 (GRCm39) missense probably damaging 1.00
IGL02069:Trpm4 APN 7 44,968,718 (GRCm39) missense probably damaging 1.00
IGL02124:Trpm4 APN 7 44,959,947 (GRCm39) missense probably damaging 1.00
IGL02141:Trpm4 APN 7 44,967,603 (GRCm39) splice site probably null
IGL02333:Trpm4 APN 7 44,971,539 (GRCm39) missense possibly damaging 0.85
IGL02338:Trpm4 APN 7 44,976,422 (GRCm39) missense probably damaging 1.00
IGL02741:Trpm4 APN 7 44,967,912 (GRCm39) missense possibly damaging 0.82
R0041:Trpm4 UTSW 7 44,954,370 (GRCm39) critical splice donor site probably null
R0106:Trpm4 UTSW 7 44,968,664 (GRCm39) critical splice donor site probably null
R0270:Trpm4 UTSW 7 44,968,677 (GRCm39) missense possibly damaging 0.45
R0279:Trpm4 UTSW 7 44,971,472 (GRCm39) missense probably damaging 0.99
R0309:Trpm4 UTSW 7 44,958,130 (GRCm39) missense probably damaging 1.00
R0539:Trpm4 UTSW 7 44,954,896 (GRCm39) missense probably damaging 0.99
R0969:Trpm4 UTSW 7 44,977,331 (GRCm39) intron probably benign
R1454:Trpm4 UTSW 7 44,966,480 (GRCm39) missense probably damaging 0.99
R1512:Trpm4 UTSW 7 44,964,468 (GRCm39) missense probably benign 0.07
R1579:Trpm4 UTSW 7 44,958,021 (GRCm39) missense probably damaging 1.00
R1768:Trpm4 UTSW 7 44,958,036 (GRCm39) missense probably damaging 0.97
R2847:Trpm4 UTSW 7 44,960,022 (GRCm39) missense probably damaging 1.00
R3883:Trpm4 UTSW 7 44,971,422 (GRCm39) critical splice donor site probably null
R3884:Trpm4 UTSW 7 44,971,422 (GRCm39) critical splice donor site probably null
R4895:Trpm4 UTSW 7 44,967,482 (GRCm39) missense probably damaging 0.98
R5056:Trpm4 UTSW 7 44,958,054 (GRCm39) missense probably damaging 0.98
R5060:Trpm4 UTSW 7 44,971,258 (GRCm39) missense probably damaging 1.00
R5069:Trpm4 UTSW 7 44,959,893 (GRCm39) missense probably damaging 1.00
R5560:Trpm4 UTSW 7 44,959,756 (GRCm39) missense probably damaging 1.00
R5783:Trpm4 UTSW 7 44,959,813 (GRCm39) missense probably benign
R5874:Trpm4 UTSW 7 44,977,173 (GRCm39) missense probably damaging 1.00
R6176:Trpm4 UTSW 7 44,976,100 (GRCm39) missense probably damaging 1.00
R6302:Trpm4 UTSW 7 44,977,143 (GRCm39) critical splice donor site probably null
R6431:Trpm4 UTSW 7 44,975,992 (GRCm39) missense possibly damaging 0.79
R6762:Trpm4 UTSW 7 44,954,240 (GRCm39) utr 3 prime probably benign
R6845:Trpm4 UTSW 7 44,971,753 (GRCm39) missense possibly damaging 0.88
R6950:Trpm4 UTSW 7 44,968,704 (GRCm39) missense probably damaging 0.97
R7126:Trpm4 UTSW 7 44,960,133 (GRCm39) splice site probably null
R7159:Trpm4 UTSW 7 44,976,692 (GRCm39) splice site probably null
R7167:Trpm4 UTSW 7 44,977,143 (GRCm39) critical splice donor site probably null
R7386:Trpm4 UTSW 7 44,964,064 (GRCm39) missense possibly damaging 0.47
R7516:Trpm4 UTSW 7 44,954,444 (GRCm39) missense probably damaging 1.00
R7655:Trpm4 UTSW 7 44,971,233 (GRCm39) missense probably benign 0.00
R7656:Trpm4 UTSW 7 44,971,233 (GRCm39) missense probably benign 0.00
R7743:Trpm4 UTSW 7 44,957,762 (GRCm39) missense probably benign 0.14
R7943:Trpm4 UTSW 7 44,958,105 (GRCm39) missense probably damaging 1.00
R7955:Trpm4 UTSW 7 44,968,683 (GRCm39) missense probably damaging 1.00
R8060:Trpm4 UTSW 7 44,954,875 (GRCm39) missense probably damaging 1.00
R8119:Trpm4 UTSW 7 44,976,552 (GRCm39) missense probably damaging 1.00
R8225:Trpm4 UTSW 7 44,954,758 (GRCm39) missense probably benign
R8395:Trpm4 UTSW 7 44,958,634 (GRCm39) missense probably benign 0.00
R8509:Trpm4 UTSW 7 44,971,785 (GRCm39) missense probably damaging 1.00
R8897:Trpm4 UTSW 7 44,960,055 (GRCm39) missense probably benign 0.02
R9577:Trpm4 UTSW 7 44,954,432 (GRCm39) nonsense probably null
R9674:Trpm4 UTSW 7 44,982,811 (GRCm39) missense possibly damaging 0.87
R9731:Trpm4 UTSW 7 44,958,054 (GRCm39) missense probably damaging 0.98
X0018:Trpm4 UTSW 7 44,964,058 (GRCm39) missense possibly damaging 0.61
X0022:Trpm4 UTSW 7 44,959,935 (GRCm39) missense probably damaging 1.00
Z1177:Trpm4 UTSW 7 44,976,142 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ACAGTTCCATTTACAGGAGGG -3'
(R):5'- TCTAGCCATCCATGCACCAATATTC -3'

Sequencing Primer
(F):5'- CCATTTACAGGAGGGGATTTGC -3'
(R):5'- AGTCAGTCAGTCAGTCAGTCAGTC -3'
Posted On 2018-09-12