Mutagenetix > Incidental Mutation

Incidental Mutation 'R0270:Trpm4'

35216

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

038496-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R0270 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

44952579-44983495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44968677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 419 (I419F)

Ref Sequence

ENSEMBL: ENSMUSP00000040367 (fasta)

Gene Model

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

AlphaFold

Q7TN37

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042194
AA Change: I419F

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260
AA Change: I419F

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: ENSMUST00000211431

Predicted Effect

probably benign
Transcript: ENSMUST00000211743
AA Change: I272F

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0935

Coding Region Coverage

1x: 98.7%
3x: 97.7%
10x: 96.0%
20x: 93.2%

Validation Efficiency

99% (113/114)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,093,906 (GRCm39)		probably benign	Het
Aadacl2fm3	T	A	3: 59,784,440 (GRCm39)	N304K	probably benign	Het
Abcf3	T	A	16: 20,378,918 (GRCm39)		probably null	Het
Acadm	C	T	3: 153,641,961 (GRCm39)	M190I	possibly damaging	Het
Adamtsl3	G	A	7: 82,206,032 (GRCm39)	R739Q	probably damaging	Het
Ank1	T	A	8: 23,578,941 (GRCm39)		probably benign	Het
Ap3b1	T	A	13: 94,540,626 (GRCm39)		probably benign	Het
Arhgdib	A	G	6: 136,903,732 (GRCm39)	V31A	probably damaging	Het
Arid4a	A	G	12: 71,119,406 (GRCm39)	R342G	probably damaging	Het
Asic3	C	T	5: 24,622,700 (GRCm39)	L517F	probably benign	Het
Atxn7l1	C	T	12: 33,392,150 (GRCm39)	P242L	possibly damaging	Het
AY761185	T	A	8: 21,434,616 (GRCm39)	E37D	possibly damaging	Het
Babam1	T	A	8: 71,851,050 (GRCm39)	D104E	probably damaging	Het
Batf	A	T	12: 85,755,446 (GRCm39)	T100S	probably benign	Het
Blcap	A	T	2: 157,399,897 (GRCm39)	Y59*	probably null	Het
Cacnb3	G	A	15: 98,540,440 (GRCm39)	A350T	probably damaging	Het
Cdk15	T	A	1: 59,349,965 (GRCm39)	V319D	probably damaging	Het
Cenpf	T	C	1: 189,382,911 (GRCm39)	H2661R	probably benign	Het
Cenpq	T	C	17: 41,240,941 (GRCm39)	E106G	probably damaging	Het
Cfap43	A	G	19: 47,785,642 (GRCm39)		probably benign	Het
Cfb	G	A	17: 35,079,362 (GRCm39)	S778L	possibly damaging	Het
Clec2m	A	T	6: 129,302,571 (GRCm39)	L152*	probably null	Het
Clspn	T	A	4: 126,467,029 (GRCm39)	N631K	probably damaging	Het
Cntn2	T	A	1: 132,449,462 (GRCm39)	T660S	probably damaging	Het
Cntrob	T	A	11: 69,202,167 (GRCm39)	H475L	possibly damaging	Het
Ddx46	T	C	13: 55,821,917 (GRCm39)	I863T	probably benign	Het
Dnah11	G	A	12: 118,004,748 (GRCm39)	T2191I	probably damaging	Het
Dock9	T	C	14: 121,813,411 (GRCm39)	T1703A	probably benign	Het
Fam13c	C	T	10: 70,380,343 (GRCm39)	P424S	probably benign	Het
Fan1	T	C	7: 63,998,619 (GRCm39)	N968D	probably benign	Het
Fbxl20	A	T	11: 97,989,329 (GRCm39)		probably benign	Het
Fkbp1b	A	T	12: 4,888,229 (GRCm39)		probably benign	Het
G930045G22Rik	T	A	6: 50,824,039 (GRCm39)		noncoding transcript	Het
Gm28042	C	A	2: 119,872,073 (GRCm39)	R1008S	probably benign	Het
Gon4l	G	A	3: 88,765,707 (GRCm39)	S376N	probably damaging	Het
Gstt3	C	A	10: 75,616,749 (GRCm39)	R15L	probably damaging	Het
Gtdc1	A	T	2: 44,642,186 (GRCm39)	S73T	possibly damaging	Het
Hhatl	A	G	9: 121,613,786 (GRCm39)	S419P	probably benign	Het
Hirip3	T	G	7: 126,462,363 (GRCm39)	S46R	probably damaging	Het
Hsf2	A	G	10: 57,378,735 (GRCm39)	T204A	probably benign	Het
Impg2	G	A	16: 56,089,378 (GRCm39)	E1108K	possibly damaging	Het
Itgb2l	G	T	16: 96,224,130 (GRCm39)		probably benign	Het
Itih5	A	T	2: 10,256,075 (GRCm39)	N847I	probably benign	Het
Kif1a	T	C	1: 92,982,164 (GRCm39)		probably benign	Het
Klhl1	T	A	14: 96,755,780 (GRCm39)		probably benign	Het
Ktn1	T	A	14: 47,952,119 (GRCm39)	D963E	probably benign	Het
Lclat1	T	A	17: 73,547,022 (GRCm39)	V313E	probably benign	Het
Lrrn4	T	C	2: 132,712,639 (GRCm39)	S395G	probably benign	Het
Macroh2a1	G	A	13: 56,243,927 (GRCm39)		probably benign	Het
Mbtps1	G	A	8: 120,264,856 (GRCm39)		probably benign	Het
Me1	A	G	9: 86,478,257 (GRCm39)		probably benign	Het
Mov10	C	A	3: 104,702,721 (GRCm39)	C948F	probably benign	Het
Mterf1a	G	A	5: 3,940,990 (GRCm39)	Q293*	probably null	Het
Nfkb2	A	T	19: 46,300,065 (GRCm39)	M838L	possibly damaging	Het
Nhlrc2	T	A	19: 56,540,302 (GRCm39)	L97Q	probably damaging	Het
Nr6a1	A	T	2: 38,629,032 (GRCm39)	Y331N	possibly damaging	Het
Nup214	C	T	2: 31,924,826 (GRCm39)	A1785V	probably damaging	Het
Ogg1	C	T	6: 113,306,217 (GRCm39)	T138I	probably benign	Het
Or5ac20	A	G	16: 59,104,116 (GRCm39)	V248A	probably damaging	Het
Or5b107	A	G	19: 13,143,251 (GRCm39)	Y291C	probably damaging	Het
Or5b124	A	G	19: 13,611,048 (GRCm39)	Y191C	probably damaging	Het
Or7g17	T	A	9: 18,768,127 (GRCm39)	Y60N	probably damaging	Het
Plod2	G	T	9: 92,466,574 (GRCm39)	R178L	probably benign	Het
Polr3b	T	A	10: 84,554,339 (GRCm39)	L1017Q	probably benign	Het
Postn	C	A	3: 54,291,971 (GRCm39)	T724N	probably damaging	Het
Ppm1l	T	G	3: 69,225,309 (GRCm39)		probably benign	Het
Prpf8	T	G	11: 75,396,075 (GRCm39)	L1983R	probably damaging	Het
Psma7	A	G	2: 179,681,193 (GRCm39)	V59A	probably benign	Het
Qser1	T	A	2: 104,619,306 (GRCm39)	Y502F	probably benign	Het
Rad50	T	C	11: 53,558,852 (GRCm39)	D1129G	probably damaging	Het
Rasal1	C	A	5: 120,812,794 (GRCm39)	P606Q	probably damaging	Het
Rgs6	A	G	12: 83,180,463 (GRCm39)	Y438C	probably damaging	Het
Rnf180	A	G	13: 105,388,774 (GRCm39)	C73R	probably benign	Het
Rnf216	T	A	5: 143,065,996 (GRCm39)	I474F	possibly damaging	Het
Sdha	A	T	13: 74,480,366 (GRCm39)	L371Q	probably damaging	Het
Sdk1	T	G	5: 142,070,321 (GRCm39)	L1162R	possibly damaging	Het
Sh3rf2	T	C	18: 42,237,146 (GRCm39)	I223T	probably damaging	Het
Sirpb1a	A	G	3: 15,475,587 (GRCm39)	V316A	probably damaging	Het
Slc12a4	A	T	8: 106,672,021 (GRCm39)	I897N	probably benign	Het
Slc35d1	A	T	4: 103,048,035 (GRCm39)	V243E	probably damaging	Het
Slc4a11	T	A	2: 130,532,852 (GRCm39)	K200N	possibly damaging	Het
Slc9a8	T	A	2: 167,293,216 (GRCm39)	M188K	probably damaging	Het
Slco1a8	T	A	6: 141,918,137 (GRCm39)	I580F	possibly damaging	Het
Snrnp200	T	C	2: 127,074,902 (GRCm39)	S1492P	probably damaging	Het
Sphk2	T	C	7: 45,360,149 (GRCm39)	*618W	probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tdpoz3	A	G	3: 93,734,231 (GRCm39)	N302S	probably benign	Het
Tdrd6	T	C	17: 43,935,199 (GRCm39)	M1950V	probably benign	Het
Tmem39a	A	G	16: 38,384,675 (GRCm39)		probably benign	Het
Trip4	A	T	9: 65,765,640 (GRCm39)	I353K	probably damaging	Het
Trip6	A	T	5: 137,311,103 (GRCm39)	F204L	probably benign	Het
Ttn	C	A	2: 76,775,140 (GRCm39)	E1967D	probably damaging	Het
Uba2	C	T	7: 33,850,281 (GRCm39)	V391M	possibly damaging	Het
Ubr4	T	G	4: 139,206,746 (GRCm39)		probably benign	Het
Upf1	G	A	8: 70,788,295 (GRCm39)		probably benign	Het
Vmn1r228	A	C	17: 20,996,858 (GRCm39)	V220G	possibly damaging	Het
Vmn2r79	A	G	7: 86,652,594 (GRCm39)	M429V	probably benign	Het
Vps36	C	T	8: 22,700,472 (GRCm39)	T210I	possibly damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Ybx1	C	T	4: 119,138,788 (GRCm39)	G126D	probably benign	Het
Yipf5	C	A	18: 40,339,460 (GRCm39)		probably benign	Het
Zbtb47	A	G	9: 121,596,641 (GRCm39)	T666A	probably benign	Het
Zdhhc5	A	C	2: 84,520,459 (GRCm39)	S573A	probably benign	Het
Zfp457	A	T	13: 67,441,991 (GRCm39)	C99S	probably damaging	Het
Zfp52	T	A	17: 21,781,564 (GRCm39)	C471S	probably damaging	Het
Zfp558	C	T	9: 18,379,252 (GRCm39)	V71I	probably damaging	Het
Zfp655	A	G	5: 145,181,267 (GRCm39)	Y375C	probably damaging	Het
Zfp882	A	T	8: 72,668,459 (GRCm39)	T429S	probably benign	Het
Zmym2	T	C	14: 57,187,141 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGACTGACTGACTGACTGACTGG -3'
(R):5'- TGTCAAGAGCGTCACTCTGACTCC -3'

Sequencing Primer
(F):5'- agataaataagtgggtggatggg -3'
(R):5'- GCGTCACTCTGACTCCAGTTC -3'

Posted On

2013-05-09