Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02333:Trpm4'

288773

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: 0.153) question?

Stock #

IGL02333

Quality Score

Status

Chromosome

Chromosomal Location

44952579-44983495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44971539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 166 (V166M)

Ref Sequence

ENSEMBL: ENSMUSP00000147793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042194] [ENSMUST00000210541] [ENSMUST00000211431] [ENSMUST00000211743]

AlphaFold

Q7TN37

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000026901

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042194
AA Change: V313M

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260
AA Change: V313M

Domain	Start	End	E-Value	Type
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: ENSMUST00000210541

Predicted Effect

probably benign
Transcript: ENSMUST00000211431

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211743
AA Change: V166M

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,862,273 (GRCm39)	V276I	probably benign	Het
Acss2	T	A	2: 155,397,804 (GRCm39)	W289R	probably damaging	Het
Alpk2	A	G	18: 65,482,551 (GRCm39)	S19P	probably damaging	Het
Ano3	T	C	2: 110,527,544 (GRCm39)		probably benign	Het
Atxn1	G	A	13: 45,720,680 (GRCm39)	S405F	probably damaging	Het
Atxn2	A	G	5: 121,919,450 (GRCm39)	Y386C	probably damaging	Het
Bach2	T	A	4: 32,575,334 (GRCm39)	L643*	probably null	Het
Ccl22	T	A	8: 95,476,507 (GRCm39)	L91Q	probably damaging	Het
Cdc40	A	G	10: 40,743,855 (GRCm39)	Y81H	probably benign	Het
Col5a3	C	A	9: 20,710,602 (GRCm39)	R549M	unknown	Het
Eif3e	A	T	15: 43,129,533 (GRCm39)	N198K	probably benign	Het
Emp2	A	G	16: 10,102,375 (GRCm39)	Y146H	probably damaging	Het
Impg1	G	A	9: 80,322,808 (GRCm39)	L66F	possibly damaging	Het
Itsn1	A	G	16: 91,617,564 (GRCm39)		probably benign	Het
Khdrbs3	T	C	15: 68,921,243 (GRCm39)	Y187H	probably damaging	Het
Klhdc7a	T	A	4: 139,694,467 (GRCm39)	H160L	probably benign	Het
Klhl2	G	A	8: 65,212,784 (GRCm39)	R252W	probably damaging	Het
Krba1	C	T	6: 48,390,021 (GRCm39)	T595I	probably damaging	Het
Myo9b	G	T	8: 71,811,637 (GRCm39)	D1887Y	possibly damaging	Het
Olfm4	C	T	14: 80,259,210 (GRCm39)	T453I	probably damaging	Het
Sin3a	A	G	9: 57,014,843 (GRCm39)	N688S	possibly damaging	Het
Slc47a1	A	G	11: 61,260,950 (GRCm39)	V150A	probably damaging	Het
Sptbn4	A	G	7: 27,063,724 (GRCm39)	L2234P	probably damaging	Het
Usp54	A	T	14: 20,639,463 (GRCm39)	F156L	probably damaging	Het
Vmn2r32	A	T	7: 7,467,143 (GRCm39)	F795Y	probably damaging	Het

Other mutations in Trpm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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