Incidental Mutation 'IGL00944:Trpm4'
ID27849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trpm4
Ensembl Gene ENSMUSG00000038260
Gene Nametransient receptor potential cation channel, subfamily M, member 4
SynonymsLTRPC4, TRPM4B, 1110030C19Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.398) question?
Stock #IGL00944
Quality Score
Status
Chromosome7
Chromosomal Location45302632-45333780 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45318349 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 386 (H386R)
Ref Sequence ENSEMBL: ENSMUSP00000147793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042194] [ENSMUST00000211431] [ENSMUST00000211743]
Predicted Effect probably benign
Transcript: ENSMUST00000042194
AA Change: H533R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260
AA Change: H533R

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: H386R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10b A G 11: 43,202,161 N441S probably damaging Het
Bod1l A G 5: 41,816,823 C2383R probably benign Het
Dapk3 G T 10: 81,184,076 probably null Het
Dock6 T C 9: 21,846,634 D58G possibly damaging Het
Elmsan1 A G 12: 84,160,548 probably benign Het
Etl4 G A 2: 20,530,054 V107I possibly damaging Het
Fam163b A G 2: 27,113,585 L19P probably damaging Het
Fbxl20 A C 11: 98,113,242 F73L probably damaging Het
Foxj2 T C 6: 122,839,635 L492P probably damaging Het
Hfm1 A T 5: 106,902,130 V391E possibly damaging Het
Ift74 T C 4: 94,693,022 Y586H probably damaging Het
Klhl12 A G 1: 134,483,753 N280S probably benign Het
Lctl T A 9: 64,133,129 Y292* probably null Het
Ltb C A 17: 35,194,666 Q49K possibly damaging Het
Mapk1 T A 16: 17,035,458 D289E probably benign Het
Mpp6 T C 6: 50,163,456 V152A possibly damaging Het
Mroh2b C T 15: 4,951,127 probably benign Het
Myot T C 18: 44,337,114 S53P possibly damaging Het
Olfr1089 A G 2: 86,733,561 I17T possibly damaging Het
Olfr1447 A T 19: 12,901,355 Y142N probably benign Het
Opn5 G A 17: 42,611,228 L28F probably damaging Het
Pld1 T A 3: 28,045,098 probably null Het
Rc3h2 A G 2: 37,398,238 probably benign Het
Robo2 T A 16: 73,933,697 H1009L possibly damaging Het
Setd7 T A 3: 51,533,038 D194V probably damaging Het
Sh3bp1 A T 15: 78,905,114 D288V possibly damaging Het
Smpd4 T C 16: 17,642,757 I809T probably benign Het
Spata6 C T 4: 111,805,928 probably benign Het
Trnau1ap C A 4: 132,328,506 V30L possibly damaging Het
Ttc3 T G 16: 94,426,761 probably null Het
Ufd1 T C 16: 18,825,031 V180A possibly damaging Het
Vmn2r102 A G 17: 19,678,892 I499V probably damaging Het
Zfp112 C A 7: 24,125,596 Q330K probably benign Het
Zfp668 G A 7: 127,867,907 R166W probably damaging Het
Other mutations in Trpm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Trpm4 APN 7 45315073 missense probably damaging 1.00
IGL02069:Trpm4 APN 7 45319294 missense probably damaging 1.00
IGL02124:Trpm4 APN 7 45310523 missense probably damaging 1.00
IGL02141:Trpm4 APN 7 45318179 splice site probably null
IGL02333:Trpm4 APN 7 45322115 missense possibly damaging 0.85
IGL02338:Trpm4 APN 7 45326998 missense probably damaging 1.00
IGL02741:Trpm4 APN 7 45318488 missense possibly damaging 0.82
R0041:Trpm4 UTSW 7 45304946 critical splice donor site probably null
R0106:Trpm4 UTSW 7 45319240 critical splice donor site probably null
R0270:Trpm4 UTSW 7 45319253 missense possibly damaging 0.45
R0279:Trpm4 UTSW 7 45322048 missense probably damaging 0.99
R0309:Trpm4 UTSW 7 45308706 missense probably damaging 1.00
R0539:Trpm4 UTSW 7 45305472 missense probably damaging 0.99
R0969:Trpm4 UTSW 7 45327907 intron probably benign
R1454:Trpm4 UTSW 7 45317056 missense probably damaging 0.99
R1512:Trpm4 UTSW 7 45315044 missense probably benign 0.07
R1579:Trpm4 UTSW 7 45308597 missense probably damaging 1.00
R1768:Trpm4 UTSW 7 45308612 missense probably damaging 0.97
R2847:Trpm4 UTSW 7 45310598 missense probably damaging 1.00
R3883:Trpm4 UTSW 7 45321998 critical splice donor site probably null
R3884:Trpm4 UTSW 7 45321998 critical splice donor site probably null
R4895:Trpm4 UTSW 7 45318058 missense probably damaging 0.98
R5056:Trpm4 UTSW 7 45308630 missense probably damaging 0.98
R5060:Trpm4 UTSW 7 45321834 missense probably damaging 1.00
R5069:Trpm4 UTSW 7 45310469 missense probably damaging 1.00
R5560:Trpm4 UTSW 7 45310332 missense probably damaging 1.00
R5783:Trpm4 UTSW 7 45310389 missense probably benign
R5874:Trpm4 UTSW 7 45327749 missense probably damaging 1.00
R6176:Trpm4 UTSW 7 45326676 missense probably damaging 1.00
R6302:Trpm4 UTSW 7 45327719 critical splice donor site probably null
R6431:Trpm4 UTSW 7 45326568 missense possibly damaging 0.79
R6762:Trpm4 UTSW 7 45304816 utr 3 prime probably benign
R6827:Trpm4 UTSW 7 45318628 missense possibly damaging 0.89
R6845:Trpm4 UTSW 7 45322329 missense possibly damaging 0.88
R6950:Trpm4 UTSW 7 45319280 missense probably damaging 0.97
X0018:Trpm4 UTSW 7 45314634 missense possibly damaging 0.61
X0022:Trpm4 UTSW 7 45310511 missense probably damaging 1.00
Posted On2013-04-17