Incidental Mutation 'R3884:Trpm4'
ID 310588
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 040797-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R3884 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 44952579-44983495 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 44971422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042194] [ENSMUST00000210541] [ENSMUST00000211431] [ENSMUST00000211743] [ENSMUST00000211743]
AlphaFold Q7TN37
Predicted Effect noncoding transcript
Transcript: ENSMUST00000026901
Predicted Effect probably null
Transcript: ENSMUST00000042194
SMART Domains Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260

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: ENSMUST00000210541
Predicted Effect probably benign
Transcript: ENSMUST00000211431
Predicted Effect probably null
Transcript: ENSMUST00000211743
Predicted Effect probably null
Transcript: ENSMUST00000211743
Meta Mutation Damage Score 0.9487 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency
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
Adcy6 G A 15: 98,495,055 (GRCm39) S719F probably benign Het
Als2 A G 1: 59,224,727 (GRCm39) V998A probably damaging Het
Ankmy1 T G 1: 92,813,874 (GRCm39) E435A probably damaging Het
Ankrd52 A G 10: 128,224,824 (GRCm39) E820G probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp6v0d2 T A 4: 19,910,677 (GRCm39) D71V probably damaging Het
C3 T C 17: 57,524,173 (GRCm39) probably null Het
Cnot7 A T 8: 40,963,171 (GRCm39) M1K probably null Het
Cntn2 A G 1: 132,456,677 (GRCm39) V123A probably damaging Het
Depdc5 G A 5: 33,101,421 (GRCm39) E904K probably damaging Het
Dip2c G T 13: 9,601,894 (GRCm39) L284F probably damaging Het
Epb41l3 C T 17: 69,581,111 (GRCm39) R552* probably null Het
Gabra4 T C 5: 71,814,600 (GRCm39) D40G probably benign Het
Gm9925 T C 18: 74,198,399 (GRCm39) probably benign Het
Igf2r T A 17: 12,928,355 (GRCm39) Q996L probably benign Het
Klk1b16 T C 7: 43,788,887 (GRCm39) V40A possibly damaging Het
Lin9 G T 1: 180,515,630 (GRCm39) G427* probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Lyg2 C G 1: 37,949,150 (GRCm39) A71P probably damaging Het
Mycbp2 A C 14: 103,532,686 (GRCm39) L390V probably damaging Het
Myl3 A G 9: 110,597,027 (GRCm39) H129R probably damaging Het
Naa16 T C 14: 79,580,702 (GRCm39) K604R probably damaging Het
Nedd4 C T 9: 72,632,359 (GRCm39) P398S probably benign Het
Neurl1a T C 19: 47,241,885 (GRCm39) V309A probably benign Het
Or10a2 A T 7: 106,673,110 (GRCm39) Q25L possibly damaging Het
Or6c210 T C 10: 129,496,407 (GRCm39) V244A probably damaging Het
Pacs1 T C 19: 5,205,787 (GRCm39) Y301C probably damaging Het
Parl A T 16: 20,101,762 (GRCm39) M90K probably damaging Het
Plxnc1 A T 10: 94,746,549 (GRCm39) probably null Het
Prkd2 C A 7: 16,587,180 (GRCm39) S375R probably benign Het
Prss44 T C 9: 110,643,764 (GRCm39) I136T possibly damaging Het
Rock1 G A 18: 10,122,768 (GRCm39) T351I probably damaging Het
Selenon T C 4: 134,267,081 (GRCm39) N507S possibly damaging Het
Slc38a7 C T 8: 96,572,809 (GRCm39) G141R probably damaging Het
Ttn T A 2: 76,560,705 (GRCm39) N27486I probably damaging Het
Xylb T C 9: 119,209,753 (GRCm39) M346T probably damaging Het
Zbtb17 T C 4: 141,191,886 (GRCm39) F306L probably damaging 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
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
R6827:Trpm4 UTSW 7 44,968,052 (GRCm39) missense possibly damaging 0.89
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'- GAAGGCCCATCCTACCTTTC -3'
(R):5'- GATAGAGGATGCCACCCAAG -3'

Sequencing Primer
(F):5'- GATAGTCTCAAACTCCTCGGAG -3'
(R):5'- GGATGCCACCCAAGCTCAG -3'
Posted On 2015-04-17