Incidental Mutation 'R2847:Trpm4'
ID 251697
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 040440-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R2847 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 44952579-44983495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44960022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 771 (F771S)
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: F771S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260
AA Change: F771S

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: ENSMUST00000211431
Predicted Effect probably damaging
Transcript: ENSMUST00000211743
AA Change: F624S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930510E17Rik T C 9: 53,176,089 (GRCm39) noncoding transcript Het
Abca13 T C 11: 9,244,584 (GRCm39) V2149A possibly damaging Het
Abca8a T C 11: 109,932,931 (GRCm39) D1231G probably damaging Het
Adgrf5 C A 17: 43,733,531 (GRCm39) N118K possibly damaging Het
Atxn1 A T 13: 45,720,175 (GRCm39) D573E probably damaging Het
Bub3 C T 7: 131,172,613 (GRCm39) T326M possibly damaging Het
Cd151 T C 7: 141,049,463 (GRCm39) Y57H probably damaging Het
Cib4 T C 5: 30,645,932 (GRCm39) N112S probably damaging Het
Cntnap5c A T 17: 58,183,387 (GRCm39) D31V probably damaging Het
Cobl A G 11: 12,328,342 (GRCm39) L81P probably damaging Het
Cpsf1 A T 15: 76,487,051 (GRCm39) L209Q probably damaging Het
Crocc G A 4: 140,746,067 (GRCm39) A1684V probably damaging Het
Cyp4f37 T A 17: 32,848,099 (GRCm39) C206S probably damaging Het
Defb39 C T 8: 19,102,909 (GRCm39) R62H possibly damaging Het
Dennd2b T C 7: 109,124,544 (GRCm39) Q1099R probably damaging Het
Dnah6 T C 6: 73,106,314 (GRCm39) K1756E probably benign Het
Efcab12 A G 6: 115,788,072 (GRCm39) I630T probably damaging Het
Erc2 T C 14: 27,762,445 (GRCm39) V736A probably damaging Het
Fbf1 C T 11: 116,048,514 (GRCm39) probably null Het
Fndc9 C T 11: 46,128,868 (GRCm39) A129V probably damaging Het
Foxk2 CGGGGGG CGGGGGGGGG 11: 121,151,317 (GRCm39) probably benign Het
Gba2 T C 4: 43,568,000 (GRCm39) probably null Het
Gna12 T A 5: 140,771,348 (GRCm39) D61V probably damaging Het
Gpr37 C T 6: 25,666,945 (GRCm39) probably benign Het
Grin2a A G 16: 9,579,829 (GRCm39) F145L possibly damaging Het
Grin2b C A 6: 135,717,951 (GRCm39) V714L probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hmcn1 G T 1: 150,439,350 (GRCm39) Y5494* probably null Het
Htr4 T C 18: 62,561,197 (GRCm39) S153P probably damaging Het
Igkv9-120 T A 6: 68,027,128 (GRCm39) probably benign Het
Itgb6 T C 2: 60,430,879 (GRCm39) T772A probably damaging Het
Mgam C A 6: 40,629,649 (GRCm39) A86E possibly damaging Het
Mme T A 3: 63,252,620 (GRCm39) N421K possibly damaging Het
Mmp1b C T 9: 7,370,763 (GRCm39) V331I probably benign Het
Naa16 A G 14: 79,573,323 (GRCm39) C816R probably damaging Het
Nav1 G C 1: 135,378,382 (GRCm39) probably null Het
Nln A G 13: 104,161,533 (GRCm39) M679T probably damaging Het
Or1n1b A G 2: 36,780,536 (GRCm39) L108P probably damaging Het
Or8b53 C T 9: 38,667,332 (GRCm39) T116I possibly damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Otop3 T C 11: 115,235,384 (GRCm39) F339L probably damaging Het
Pax7 T C 4: 139,506,954 (GRCm39) D361G possibly damaging Het
Peg10 C T 6: 4,756,912 (GRCm39) probably benign Het
Plekhh2 G T 17: 84,905,394 (GRCm39) R1096L probably damaging Het
Poteg A T 8: 27,971,704 (GRCm39) N406I probably benign Het
Rnf43 T A 11: 87,623,093 (GRCm39) N731K probably benign Het
Robo4 C T 9: 37,315,772 (GRCm39) R342* probably null Het
Sec23ip G A 7: 128,355,797 (GRCm39) V307I probably benign Het
Slc2a4 T A 11: 69,836,997 (GRCm39) N116Y probably damaging Het
Tas1r3 T A 4: 155,944,659 (GRCm39) Q854L probably benign Het
Tox3 G A 8: 90,975,018 (GRCm39) Q538* probably null Het
Tstd3 A T 4: 21,759,375 (GRCm39) F132L possibly damaging Het
Ulk2 T C 11: 61,715,555 (GRCm39) probably null Het
Unc13b T C 4: 43,180,404 (GRCm39) Y3080H probably benign Het
Utp25 A T 1: 192,810,759 (GRCm39) N81K probably benign Het
Vmn1r181 G T 7: 23,683,943 (GRCm39) S136I possibly damaging Het
Vmn2r114 A T 17: 23,509,948 (GRCm39) M844K probably benign Het
Vmn2r60 A T 7: 41,785,857 (GRCm39) H220L probably benign Het
Vps13a A G 19: 16,680,963 (GRCm39) S1078P probably damaging Het
Vwa8 G T 14: 79,184,582 (GRCm39) R360L probably benign Het
Xlr4b A T X: 72,258,938 (GRCm39) Q25L probably null Het
Zdhhc22 T A 12: 87,035,336 (GRCm39) T39S probably benign Het
Zfp532 T A 18: 65,789,697 (GRCm39) H1045Q possibly damaging Het
Zfp773 AGCTGCTGCTGCTGCTGCTGCTGCTGC AGCTGCTGCTGCTGCTGCTGCTGC 7: 7,136,092 (GRCm39) probably benign Het
Zfp964 G C 8: 70,116,504 (GRCm39) C368S unknown Het
Zfp985 G A 4: 147,667,468 (GRCm39) W112* 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
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
Predicted Primers PCR Primer
(F):5'- TTCCAGGTATCTGAGAGGTAGAGG -3'
(R):5'- TTCCCAGAGTCCAAAGTGGG -3'

Sequencing Primer
(F):5'- TCTGTCCGGACCACGTC -3'
(R):5'- CCAAAGTGGGACAGTGTAGAAGTTAG -3'
Posted On 2014-12-04