Incidental Mutation 'R9731:Trpm4'
ID 731390
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R9731 (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 44958054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 952 (D952G)
Ref Sequence ENSEMBL: ENSMUSP00000040367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042194] [ENSMUST00000209506] [ENSMUST00000210311] [ENSMUST00000211431] [ENSMUST00000211743]
AlphaFold Q7TN37
Predicted Effect probably damaging
Transcript: ENSMUST00000042194
AA Change: D952G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260
AA Change: D952G

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 noncoding transcript
Transcript: ENSMUST00000209239
Predicted Effect probably benign
Transcript: ENSMUST00000209506
Predicted Effect probably benign
Transcript: ENSMUST00000210311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210639
Predicted Effect probably benign
Transcript: ENSMUST00000211431
Predicted Effect possibly damaging
Transcript: ENSMUST00000211743
AA Change: D805G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Meta Mutation Damage Score 0.1003 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik T G 4: 109,362,918 (GRCm39) S134R probably damaging Het
A930033H14Rik T A 10: 69,048,679 (GRCm39) R53W unknown Het
Abca9 G T 11: 110,025,024 (GRCm39) D1006E probably benign Het
Abcc6 T A 7: 45,669,660 (GRCm39) R132* probably null Het
Ankrd40 C T 11: 94,229,250 (GRCm39) T283I probably damaging Het
Atr A G 9: 95,747,092 (GRCm39) K125E possibly damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cep290 A T 10: 100,346,404 (GRCm39) L527F probably damaging Het
Cep295 T C 9: 15,245,262 (GRCm39) N1065D possibly damaging Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Ddx54 C T 5: 120,758,807 (GRCm39) A350V probably benign Het
Defb23 C T 2: 152,301,333 (GRCm39) V80I probably benign Het
Dennd5b G A 6: 148,970,138 (GRCm39) T127I probably damaging Het
Dnah6 G T 6: 73,168,589 (GRCm39) Q445K probably benign Het
Dync2h1 T C 9: 7,141,166 (GRCm39) H1287R probably benign Het
Enpp7 G A 11: 118,879,151 (GRCm39) G37R probably damaging Het
Exoc2 T C 13: 31,061,233 (GRCm39) T554A probably benign Het
Fgf8 T C 19: 45,730,846 (GRCm39) N60D probably benign Het
Gdi2 A G 13: 3,588,299 (GRCm39) M1V probably null Het
Glra3 G T 8: 56,542,058 (GRCm39) R267L probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Greb1 C T 12: 16,738,598 (GRCm39) R1455H probably damaging Het
Grk6 C A 13: 55,607,640 (GRCm39) P575T possibly damaging Het
Hpgd A T 8: 56,751,391 (GRCm39) D73V probably benign Het
Hpse G A 5: 100,842,022 (GRCm39) H288Y probably damaging Het
Hpse2 G A 19: 42,794,826 (GRCm39) R506* probably null Het
Ing1 C A 8: 11,611,649 (GRCm39) T123N probably benign Het
Kdm2b T C 5: 123,125,823 (GRCm39) D27G probably benign Het
Kmt2c A T 5: 25,577,956 (GRCm39) D773E probably benign Het
Lrrc7 T C 3: 157,880,888 (GRCm39) D516G probably benign Het
Lrsam1 A G 2: 32,835,452 (GRCm39) probably null Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Meak7 C A 8: 120,498,010 (GRCm39) A165S probably benign Het
Ndufaf3 T C 9: 108,443,158 (GRCm39) *186W probably null Het
Ndufaf5 C T 2: 140,012,807 (GRCm39) A59V possibly damaging Het
Nphp3 T C 9: 103,886,369 (GRCm39) L281S probably damaging Het
Or10a4 T G 7: 106,696,786 (GRCm39) V38G probably benign Het
Or4c12 T A 2: 89,774,316 (GRCm39) I48F possibly damaging Het
Or8b37 A T 9: 37,958,892 (GRCm39) I125F probably damaging Het
Otogl G T 10: 107,735,328 (GRCm39) T152K probably damaging Het
Oxgr1 C T 14: 120,260,094 (GRCm39) V38I probably benign Het
Polr2a G A 11: 69,638,043 (GRCm39) T142M possibly damaging Het
Pou6f1 C T 15: 100,476,206 (GRCm39) R560Q possibly damaging Het
Ptgr3 T G 18: 84,113,128 (GRCm39) V268G probably damaging Het
Rbm33 A G 5: 28,544,242 (GRCm39) E166G probably damaging Het
Rgs14 T A 13: 55,528,784 (GRCm39) Y308* probably null Het
Rpl10a T C 17: 28,547,594 (GRCm39) probably benign Het
Rras2 A C 7: 113,659,593 (GRCm39) I57S probably damaging Het
Scn1b C T 7: 30,824,596 (GRCm39) V31M probably damaging Het
Sema6d G A 2: 124,506,117 (GRCm39) A642T probably damaging Het
Sis T A 3: 72,835,543 (GRCm39) T940S probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc22a27 G A 19: 7,904,126 (GRCm39) Q4* probably null Het
Slc44a2 T A 9: 21,263,770 (GRCm39) I646N possibly damaging Het
Sprtn C A 8: 125,629,704 (GRCm39) Y332* probably null Het
Srpk1 A G 17: 28,825,297 (GRCm39) I125T probably damaging Het
Sv2b G A 7: 74,786,068 (GRCm39) H451Y probably benign Het
Tec G A 5: 72,939,439 (GRCm39) T192M probably benign Het
Tlr3 G A 8: 45,850,944 (GRCm39) T127M probably damaging Het
Trim25 C A 11: 88,906,391 (GRCm39) P405T probably benign Het
Tsc1 A G 2: 28,566,486 (GRCm39) D635G probably benign Het
Ttc7b T C 12: 100,461,683 (GRCm39) E98G possibly damaging Het
Ubr2 A G 17: 47,274,071 (GRCm39) probably null Het
Usp19 T A 9: 108,376,885 (GRCm39) S1153T probably damaging Het
Vmn2r63 A T 7: 42,553,361 (GRCm39) L632M probably benign Het
Vps13c C T 9: 67,826,526 (GRCm39) T1389I probably benign Het
Wasf1 T A 10: 40,806,731 (GRCm39) Y125N 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
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
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'- CATGAGGGCCACTGCAAAAG -3'
(R):5'- GGATGCTGTGTCTAAGACAGG -3'

Sequencing Primer
(F):5'- GGCCACTGCAAAAGGAACAGC -3'
(R):5'- CTGTGTCTAAGACAGGGAGAGTAGC -3'
Posted On 2022-11-14