Incidental Mutation 'IGL02141:Trpm4'
ID 281579
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trpm4
Ensembl Gene ENSMUSG00000038260
Gene Name transient receptor potential cation channel, subfamily M, member 4
Synonyms 1110030C19Rik, TRPM4B, LTRPC4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # IGL02141
Quality Score
Status
Chromosome 7
Chromosomal Location 44952579-44983495 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 44967603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042194] [ENSMUST00000211431] [ENSMUST00000211743]
AlphaFold Q7TN37
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: ENSMUST00000211431
Predicted Effect probably null
Transcript: ENSMUST00000211743
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,120,275 (GRCm39) A188T probably benign Het
2310022B05Rik A T 8: 125,364,645 (GRCm39) probably benign Het
Atf6b C A 17: 34,872,251 (GRCm39) H539Q probably benign Het
Bmal2 T A 6: 146,729,593 (GRCm39) probably benign Het
Bpifb5 G T 2: 154,071,477 (GRCm39) probably null Het
Cep89 T A 7: 35,120,349 (GRCm39) M377K probably damaging Het
Clpx G T 9: 65,219,400 (GRCm39) probably null Het
Cops5 T C 1: 10,105,342 (GRCm39) K47E probably damaging Het
Cryba2 T C 1: 74,931,943 (GRCm39) N35S probably benign Het
Ddx27 A G 2: 166,862,443 (GRCm39) K162E possibly damaging Het
Dhx36 A G 3: 62,401,310 (GRCm39) S319P probably benign Het
Dram2 A G 3: 106,479,012 (GRCm39) probably benign Het
Eci2 T A 13: 35,162,656 (GRCm39) T300S probably benign Het
Egf C A 3: 129,533,631 (GRCm39) G70* probably null Het
Eif5b T C 1: 38,071,403 (GRCm39) V444A probably benign Het
Elf3 T C 1: 135,185,445 (GRCm39) D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 (GRCm39) probably null Het
Fam167a T A 14: 63,689,708 (GRCm39) S2T probably benign Het
Flrt3 A G 2: 140,502,608 (GRCm39) V340A probably damaging Het
Gimap3 T C 6: 48,742,312 (GRCm39) E206G probably benign Het
Gp6 T C 7: 4,397,103 (GRCm39) probably benign Het
Gpr158 A T 2: 21,788,101 (GRCm39) M581L probably damaging Het
Hapln3 A G 7: 78,767,893 (GRCm39) V167A probably damaging Het
Hnrnpll G A 17: 80,358,142 (GRCm39) T203I probably benign Het
Ighv3-6 A G 12: 114,251,982 (GRCm39) I47T probably damaging Het
Iqgap1 G A 7: 80,387,869 (GRCm39) T926M probably damaging Het
Lonp1 A T 17: 56,922,086 (GRCm39) S765T probably benign Het
Lpp C T 16: 24,580,365 (GRCm39) S27F probably damaging Het
Lrit2 T C 14: 36,790,031 (GRCm39) probably benign Het
Luc7l C A 17: 26,472,054 (GRCm39) T17K probably damaging Het
Mmut A G 17: 41,249,708 (GRCm39) T228A possibly damaging Het
Mroh1 G T 15: 76,330,799 (GRCm39) S1161I possibly damaging Het
Muc5b T G 7: 141,407,104 (GRCm39) C1091G unknown Het
Nppb A T 4: 148,070,463 (GRCm39) I11F probably benign Het
Nsf A T 11: 103,719,351 (GRCm39) D650E probably benign Het
Ogdh A G 11: 6,305,015 (GRCm39) K907E probably damaging Het
Or1b1 G A 2: 36,995,437 (GRCm39) S75F probably benign Het
Or1j15 A G 2: 36,458,820 (GRCm39) D70G probably damaging Het
Or7a35 A G 10: 78,853,555 (GRCm39) Y133C probably damaging Het
Pcnx1 A T 12: 81,907,156 (GRCm39) Q4L possibly damaging Het
Pgc T A 17: 48,037,856 (GRCm39) L9H probably damaging Het
Pikfyve T A 1: 65,285,556 (GRCm39) S887T probably benign Het
Plec T C 15: 76,059,815 (GRCm39) D3239G probably damaging Het
Pole4 T C 6: 82,625,015 (GRCm39) T116A probably benign Het
Potegl T C 2: 23,120,212 (GRCm39) F203L probably damaging Het
Prpf8 A G 11: 75,381,498 (GRCm39) N300D possibly damaging Het
Rara T A 11: 98,858,907 (GRCm39) Y119N probably damaging Het
Rbck1 G T 2: 152,160,294 (GRCm39) R462S possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slfn2 C A 11: 82,960,670 (GRCm39) N216K probably benign Het
Suox A G 10: 128,507,967 (GRCm39) probably benign Het
Tars1 T A 15: 11,391,280 (GRCm39) Y283F probably damaging Het
Ubtd2 A T 11: 32,449,262 (GRCm39) K36N probably benign Het
Unkl T C 17: 25,448,408 (GRCm39) L327P probably damaging Het
Vmn1r11 T A 6: 57,114,364 (GRCm39) Y9* probably null Het
Vps13b T C 15: 35,572,227 (GRCm39) V948A probably benign Het
Zbtb17 A G 4: 141,192,264 (GRCm39) H403R 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
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
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
Posted On 2015-04-16