Incidental Mutation 'R4895:Trpm4'
ID 377566
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 042499-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44952579-44983495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44967482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 574 (M574K)
Ref Sequence ENSEMBL: ENSMUSP00000040367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042194] [ENSMUST00000211431] [ENSMUST00000211743]
AlphaFold Q7TN37
Predicted Effect probably damaging
Transcript: ENSMUST00000042194
AA Change: M574K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260
AA Change: M574K

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 benign
Transcript: ENSMUST00000211743
AA Change: M427K

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.8984 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abat G A 16: 8,433,826 (GRCm39) A392T probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Acss2 A G 2: 155,392,401 (GRCm39) probably benign Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm39) T77K probably damaging Het
Atp8b4 A T 2: 126,256,289 (GRCm39) H223Q probably benign Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Haus3 T C 5: 34,325,414 (GRCm39) R82G probably benign Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Inpp5e C T 2: 26,287,924 (GRCm39) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Lamb3 C T 1: 193,014,622 (GRCm39) R594* probably null Het
Map3k20 A G 2: 72,232,700 (GRCm39) probably benign Het
Maz A T 7: 126,624,472 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Pot1a A C 6: 25,753,205 (GRCm39) F444V probably damaging Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prepl A G 17: 85,388,494 (GRCm39) F203S probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbc1d23 A G 16: 57,019,220 (GRCm39) probably null Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Usf3 A C 16: 44,041,459 (GRCm39) S1980R possibly damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null 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
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'- CATGGCATACATCTTTAAAACATTCAG -3'
(R):5'- GAGGGTGTGGTAAGCCCG -3'

Sequencing Primer
(F):5'- TGCACAAAACCTTGGGTCTG -3'
(R):5'- CATCAACGGATGCAAGCT -3'
Posted On 2016-03-17