Mutagenetix > Incidental Mutation

Incidental Mutation 'R1512:Trpm4'

168415

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

039559-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R1512 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

44952579-44983495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44964468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 690 (I690T)

Ref Sequence

ENSEMBL: ENSMUSP00000040367 (fasta)

Gene Model

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

AlphaFold

Q7TN37

Predicted Effect

probably benign
Transcript: ENSMUST00000042194
AA Change: I690T

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260
AA Change: I690T

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

noncoding transcript
Transcript: ENSMUST00000209239

Predicted Effect

probably benign
Transcript: ENSMUST00000211431

Predicted Effect

probably benign
Transcript: ENSMUST00000211743
AA Change: I543T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0680

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

95% (79/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,086,295 (GRCm39)	D40E	probably benign	Het
Acsf2	C	T	11: 94,452,224 (GRCm39)		probably benign	Het
Adamts19	C	T	18: 59,181,917 (GRCm39)	H1119Y	possibly damaging	Het
Akap6	A	G	12: 52,983,937 (GRCm39)	D827G	probably damaging	Het
Ankrd33b	T	C	15: 31,367,375 (GRCm39)	D55G	probably damaging	Het
Ano5	T	A	7: 51,229,316 (GRCm39)	H569Q	probably benign	Het
Aox1	A	G	1: 58,346,510 (GRCm39)	D548G	probably benign	Het
Baz2a	A	G	10: 127,960,021 (GRCm39)	D1433G	possibly damaging	Het
BC031181	T	G	18: 75,141,767 (GRCm39)	V8G	probably damaging	Het
Bicdl2	A	T	17: 23,887,083 (GRCm39)	M457L	probably damaging	Het
C130074G19Rik	T	C	1: 184,615,103 (GRCm39)	D29G	probably damaging	Het
Cd200r1	A	T	16: 44,586,390 (GRCm39)	T7S	probably benign	Het
Cdc37	A	G	9: 21,053,712 (GRCm39)		probably benign	Het
Cmtr2	T	C	8: 110,949,267 (GRCm39)	S526P	probably damaging	Het
Cntn2	G	T	1: 132,451,430 (GRCm39)	A433D	probably damaging	Het
Cntnap5a	T	C	1: 115,828,680 (GRCm39)	S35P	probably benign	Het
Csf3r	A	G	4: 125,923,777 (GRCm39)	T96A	possibly damaging	Het
Ctbs	A	G	3: 146,160,720 (GRCm39)	N96D	probably benign	Het
Cyp26b1	C	A	6: 84,553,979 (GRCm39)	V213L	probably benign	Het
Dach1	A	G	14: 98,138,835 (GRCm39)	L536P	probably damaging	Het
Dcaf6	T	C	1: 165,179,589 (GRCm39)	Q517R	probably benign	Het
Dnah1	G	T	14: 31,014,994 (GRCm39)	Q1733K	probably damaging	Het
Dnah17	A	T	11: 117,985,841 (GRCm39)	I1416N	probably benign	Het
Dock11	G	A	X: 35,283,688 (GRCm39)	R1102H	probably damaging	Het
Dpp8	T	C	9: 64,971,096 (GRCm39)		probably benign	Het
Emc1	G	A	4: 139,087,495 (GRCm39)		probably null	Het
Emc8	A	G	8: 121,384,983 (GRCm39)	L76P	possibly damaging	Het
Emx2	T	C	19: 59,448,035 (GRCm39)	Y130H	possibly damaging	Het
Fbf1	C	T	11: 116,038,753 (GRCm39)	R815Q	probably damaging	Het
Foxb2	G	A	19: 16,849,878 (GRCm39)	P376L	probably damaging	Het
Gabrb1	C	A	5: 72,266,047 (GRCm39)	L202I	probably damaging	Het
Gabrb1	T	A	5: 72,266,048 (GRCm39)	L202Q	probably damaging	Het
Grin2c	T	A	11: 115,144,676 (GRCm39)	I617F	probably damaging	Het
Gtf2h3	T	A	5: 124,728,933 (GRCm39)	V164E	probably damaging	Het
Gusb	T	C	5: 130,029,731 (GRCm39)	Q88R	probably damaging	Het
Hormad2	T	A	11: 4,374,788 (GRCm39)	K75N	probably damaging	Het
Il33	A	G	19: 29,929,390 (GRCm39)	T38A	possibly damaging	Het
Ivns1abp	A	T	1: 151,236,687 (GRCm39)	Q416L	possibly damaging	Het
Ivns1abp	G	C	1: 151,236,688 (GRCm39)	Q416H	probably benign	Het
Kcnh5	T	A	12: 75,166,711 (GRCm39)	H178L	probably benign	Het
Kif21b	A	G	1: 136,080,543 (GRCm39)	N579S	probably benign	Het
Kif26a	G	C	12: 112,113,389 (GRCm39)	R95P	possibly damaging	Het
Kl	A	G	5: 150,912,062 (GRCm39)	I604V	probably benign	Het
Klhl24	A	G	16: 19,941,686 (GRCm39)	K545E	probably damaging	Het
Mcm3ap	A	G	10: 76,306,347 (GRCm39)	I153M	probably damaging	Het
Meis1	T	G	11: 18,831,682 (GRCm39)	D452A	probably damaging	Het
Msantd4	C	T	9: 4,384,138 (GRCm39)	P153L	probably benign	Het
Myot	A	G	18: 44,475,422 (GRCm39)	E181G	probably damaging	Het
Nf1	T	C	11: 79,281,195 (GRCm39)	F150S	probably damaging	Het
Nyap2	T	A	1: 81,219,566 (GRCm39)	S529R	probably damaging	Het
Or10d3	T	C	9: 39,461,390 (GRCm39)	Y259C	probably damaging	Het
Or12e10	A	T	2: 87,640,988 (GRCm39)	T275S	probably benign	Het
Or2y1c	A	G	11: 49,361,286 (GRCm39)	I103V	probably benign	Het
Or8b56	T	A	9: 38,739,660 (GRCm39)	Y224*	probably null	Het
Pcnt	C	T	10: 76,240,496 (GRCm39)		probably null	Het
Pik3c3	T	C	18: 30,455,289 (GRCm39)		probably null	Het
Pkdcc	A	T	17: 83,527,473 (GRCm39)	Y217F	possibly damaging	Het
Pnpla6	C	A	8: 3,585,459 (GRCm39)		probably benign	Het
Polr3gl	T	C	3: 96,488,190 (GRCm39)	M26V	probably benign	Het
Ppp1r13b	T	C	12: 111,838,842 (GRCm39)	N12S	possibly damaging	Het
Ppp1r26	G	A	2: 28,341,528 (GRCm39)	R386K	probably benign	Het
Prdm10	A	G	9: 31,248,697 (GRCm39)	E355G	probably damaging	Het
Prex2	T	C	1: 11,131,554 (GRCm39)	F41S	possibly damaging	Het
Prkar1b	G	T	5: 139,036,428 (GRCm39)	Y231*	probably null	Het
Prkdc	A	T	16: 15,505,268 (GRCm39)	I857L	probably benign	Het
Psg21	A	T	7: 18,390,425 (GRCm39)	N10K	probably benign	Het
Rapgef3	A	T	15: 97,655,382 (GRCm39)	V444E	probably benign	Het
Rnf17	A	T	14: 56,705,243 (GRCm39)	T716S	probably benign	Het
Rps6ka1	C	T	4: 133,578,315 (GRCm39)	R577H	probably damaging	Het
Scn1a	A	C	2: 66,161,629 (GRCm39)	N306K	possibly damaging	Het
Skint6	A	G	4: 113,095,329 (GRCm39)	I110T	probably damaging	Het
Ssu2	A	G	6: 112,364,959 (GRCm39)	M1T	probably null	Het
Stag3	A	T	5: 138,296,247 (GRCm39)	T437S	probably benign	Het
Tal2	A	G	4: 53,786,107 (GRCm39)	Y96C	probably benign	Het
Thoc3	A	T	13: 54,613,991 (GRCm39)		probably null	Het
Tle1	T	C	4: 72,059,495 (GRCm39)	D19G	probably damaging	Het
Trpm6	A	T	19: 18,853,295 (GRCm39)	M1772L	probably benign	Het
Unc5b	G	A	10: 60,667,254 (GRCm39)		probably benign	Het
Usf3	G	T	16: 44,041,561 (GRCm39)	V2014F	probably damaging	Het
Utp18	C	T	11: 93,776,390 (GRCm39)	A32T	probably benign	Het
Wdfy4	A	G	14: 32,682,765 (GRCm39)	V2981A	probably damaging	Het
Zfp608	A	G	18: 55,079,738 (GRCm39)	V349A	probably damaging	Het
Znfx1	A	C	2: 166,898,237 (GRCm39)	I229S	probably benign	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
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
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'- CCACAATGCTGGACTGTCACTCAC -3'
(R):5'- TCCCATGCTCTAACAGTTGAGACCC -3'

Sequencing Primer
(F):5'- GCTGCTGTCCATATCAAAGTCAAG -3'
(R):5'- TGAGACCCCATATGGACACTTG -3'

Posted On

2014-04-13