Mutagenetix > Incidental Mutation

Incidental Mutation 'R5560:Trpm4'

436525

Institutional Source

Beutler Lab

Gene Symbol

Trpm4

Ensembl Gene

ENSMUSG00000038260

Gene Name

transient receptor potential cation channel, subfamily M, member 4

Synonyms

LTRPC4, TRPM4B, 1110030C19Rik

MMRRC Submission

043117-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R5560 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

45302632-45333780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45310332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 713 (W713R)

Ref Sequence

ENSEMBL: ENSMUSP00000147793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042194] [ENSMUST00000209506] [ENSMUST00000210311] [ENSMUST00000211431] [ENSMUST00000211743]

AlphaFold

Q7TN37

Predicted Effect

probably damaging
Transcript: ENSMUST00000042194
AA Change: W860R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260
AA Change: W860R

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: ENSMUST00000209506

Predicted Effect

probably benign
Transcript: ENSMUST00000210311

Predicted Effect

probably benign
Transcript: ENSMUST00000211431

Predicted Effect

probably damaging
Transcript: ENSMUST00000211743
AA Change: W713R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,506,354 (GRCm38)	E98K	possibly damaging	Het
Adipor1	T	C	1: 134,426,040 (GRCm38)	W188R	possibly damaging	Het
Agrn	T	C	4: 156,178,497 (GRCm38)	D441G	probably damaging	Het
Ankrd55	T	C	13: 112,383,490 (GRCm38)	S570P	probably benign	Het
Ano9	C	G	7: 141,110,482 (GRCm38)	G80R	probably damaging	Het
Arhgef2	T	A	3: 88,634,437 (GRCm38)	V250E	probably damaging	Het
Atp2b2	T	C	6: 113,774,358 (GRCm38)	D583G	possibly damaging	Het
Bcar3	T	A	3: 122,426,575 (GRCm38)	D40E	possibly damaging	Het
Capn12	A	G	7: 28,882,860 (GRCm38)	D133G	probably benign	Het
Ccna1	A	T	3: 55,048,569 (GRCm38)	Y269N	probably damaging	Het
Cct6b	A	T	11: 82,741,413 (GRCm38)	Y250N	probably damaging	Het
Cep112	A	C	11: 108,437,235 (GRCm38)	K98Q	probably damaging	Het
Chst13	T	C	6: 90,318,269 (GRCm38)	D54G	probably damaging	Het
Clstn2	G	T	9: 97,469,819 (GRCm38)	H518N	possibly damaging	Het
Cntnap1	T	A	11: 101,182,435 (GRCm38)	L581M	probably damaging	Het
Cog3	T	A	14: 75,729,393 (GRCm38)	M446L	probably damaging	Het
D430042O09Rik	T	C	7: 125,854,561 (GRCm38)	V1150A	probably benign	Het
Dennd2c	T	A	3: 103,161,555 (GRCm38)	I756K	probably damaging	Het
Dennd3	T	G	15: 73,532,895 (GRCm38)	L273R	probably damaging	Het
Dhx34	C	A	7: 16,218,541 (GRCm38)	R53L	probably benign	Het
Dnah9	G	A	11: 65,881,740 (GRCm38)	T3722I	probably benign	Het
Dnajb12	GC	G	10: 59,892,752 (GRCm38)		probably null	Het
Dusp6	A	G	10: 99,266,241 (GRCm38)	Y217C	probably damaging	Het
Dyrk1b	G	A	7: 28,184,253 (GRCm38)	R178Q	possibly damaging	Het
Eif4g1	T	A	16: 20,686,895 (GRCm38)	C1009S	probably benign	Het
Fam198a	T	C	9: 121,978,223 (GRCm38)	F478L	possibly damaging	Het
Frmpd1	A	T	4: 45,243,697 (GRCm38)	T57S	probably damaging	Het
Gjc2	A	G	11: 59,177,359 (GRCm38)	V99A	possibly damaging	Het
Gm9955	A	T	18: 24,709,092 (GRCm38)		probably benign	Het
Gpr158	A	G	2: 21,826,290 (GRCm38)	I734V	possibly damaging	Het
Herc1	A	T	9: 66,451,119 (GRCm38)	H2494L	probably benign	Het
Hist1h1c	A	G	13: 23,739,407 (GRCm38)	S187G	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524 (GRCm38)		probably null	Het
Hmgcs1	A	G	13: 119,699,815 (GRCm38)		probably null	Het
Invs	A	T	4: 48,416,084 (GRCm38)	T655S	probably benign	Het
Ipo9	G	A	1: 135,402,245 (GRCm38)	L486F	probably damaging	Het
Kcnj6	A	T	16: 94,832,965 (GRCm38)	L96M	probably benign	Het
Lfng	A	G	5: 140,614,267 (GRCm38)	D354G	possibly damaging	Het
Lgsn	T	C	1: 31,196,872 (GRCm38)	L139P	probably damaging	Het
Madd	C	A	2: 91,163,545 (GRCm38)	V923L	probably damaging	Het
Mfsd7a	A	T	5: 108,448,863 (GRCm38)	M1K	probably null	Het
Mical1	A	T	10: 41,478,965 (GRCm38)	I157F	probably damaging	Het
Mis18bp1	T	C	12: 65,152,816 (GRCm38)	N154S	possibly damaging	Het
Mrps14	A	G	1: 160,195,535 (GRCm38)	K6R	probably benign	Het
Mug1	T	A	6: 121,861,073 (GRCm38)	C421S	probably damaging	Het
Myo18b	A	G	5: 112,868,295 (GRCm38)	I696T	probably damaging	Het
Naf1	T	C	8: 66,883,545 (GRCm38)	Y375H	probably damaging	Het
Nsf	T	A	11: 103,863,255 (GRCm38)	E485V	possibly damaging	Het
Nup188	A	G	2: 30,309,885 (GRCm38)	D307G	probably damaging	Het
Ocel1	C	A	8: 71,372,478 (GRCm38)	P108T	probably damaging	Het
Oip5	A	G	2: 119,613,059 (GRCm38)	S177P	probably damaging	Het
Olfr1436	G	A	19: 12,298,644 (GRCm38)	Q163*	probably null	Het
Olfr365	A	G	2: 37,201,930 (GRCm38)	I230V	probably benign	Het
Olfr51	A	C	11: 51,007,523 (GRCm38)	I184L	possibly damaging	Het
Olfr943	A	C	9: 39,184,184 (GRCm38)	E2A	probably benign	Het
Omg	A	G	11: 79,501,758 (GRCm38)	W425R	possibly damaging	Het
Pikfyve	A	G	1: 65,253,407 (GRCm38)	Y1339C	probably damaging	Het
Polr3e	A	G	7: 120,922,949 (GRCm38)	D6G	possibly damaging	Het
Pou4f3	C	A	18: 42,395,415 (GRCm38)	P141Q	probably benign	Het
Rcsd1	T	A	1: 165,655,501 (GRCm38)	N337I	possibly damaging	Het
Rhoj	C	T	12: 75,391,712 (GRCm38)	P91S	probably damaging	Het
Rnf10	A	G	5: 115,249,998 (GRCm38)	F367S	probably damaging	Het
Rnft1	A	T	11: 86,493,196 (GRCm38)	R307S	probably benign	Het
Ryr3	A	T	2: 112,754,877 (GRCm38)	F2788Y	probably damaging	Het
Scgb1c1	A	G	7: 140,846,224 (GRCm38)	K78E	possibly damaging	Het
Scn5a	G	T	9: 119,560,286 (GRCm38)	A123E	probably damaging	Het
Setd2	T	A	9: 110,549,839 (GRCm38)	Y623*	probably null	Het
Tbl2	C	T	5: 135,157,591 (GRCm38)	Q216*	probably null	Het
Thegl	A	G	5: 77,016,486 (GRCm38)	D112G	possibly damaging	Het
Tnc	A	G	4: 64,008,709 (GRCm38)	I860T	probably damaging	Het
Trafd1	T	C	5: 121,373,303 (GRCm38)	K484R	possibly damaging	Het
Trank1	T	C	9: 111,390,567 (GRCm38)	V2124A	probably damaging	Het
Uap1l1	T	C	2: 25,362,676 (GRCm38)	T451A	probably benign	Het
Uba6	A	T	5: 86,131,260 (GRCm38)	C668S	probably damaging	Het
Ubxn11	T	C	4: 134,126,624 (GRCm38)	F441S	probably damaging	Het
Vmn1r22	C	T	6: 57,900,738 (GRCm38)	V85M	probably damaging	Het
Vmn2r72	T	A	7: 85,751,942 (GRCm38)	I90L	probably damaging	Het
Wdr60	T	C	12: 116,218,113 (GRCm38)	S769G	probably damaging	Het
Zfp330	T	C	8: 82,764,956 (GRCm38)	E196G	probably benign	Het
Zfp746	A	G	6: 48,082,174 (GRCm38)	V167A	possibly damaging	Het
Zfp994	T	C	17: 22,201,713 (GRCm38)	E85G	possibly damaging	Het

Other mutations in Trpm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Trpm4	APN	7	45,318,349 (GRCm38)	missense	probably benign
IGL01327:Trpm4	APN	7	45,315,073 (GRCm38)	missense	probably damaging	1.00
IGL02069:Trpm4	APN	7	45,319,294 (GRCm38)	missense	probably damaging	1.00
IGL02124:Trpm4	APN	7	45,310,523 (GRCm38)	missense	probably damaging	1.00
IGL02141:Trpm4	APN	7	45,318,179 (GRCm38)	splice site	probably null
IGL02333:Trpm4	APN	7	45,322,115 (GRCm38)	missense	possibly damaging	0.85
IGL02338:Trpm4	APN	7	45,326,998 (GRCm38)	missense	probably damaging	1.00
IGL02741:Trpm4	APN	7	45,318,488 (GRCm38)	missense	possibly damaging	0.82
R0041:Trpm4	UTSW	7	45,304,946 (GRCm38)	critical splice donor site	probably null
R0106:Trpm4	UTSW	7	45,319,240 (GRCm38)	critical splice donor site	probably null
R0270:Trpm4	UTSW	7	45,319,253 (GRCm38)	missense	possibly damaging	0.45
R0279:Trpm4	UTSW	7	45,322,048 (GRCm38)	missense	probably damaging	0.99
R0309:Trpm4	UTSW	7	45,308,706 (GRCm38)	missense	probably damaging	1.00
R0539:Trpm4	UTSW	7	45,305,472 (GRCm38)	missense	probably damaging	0.99
R0969:Trpm4	UTSW	7	45,327,907 (GRCm38)	intron	probably benign
R1454:Trpm4	UTSW	7	45,317,056 (GRCm38)	missense	probably damaging	0.99
R1512:Trpm4	UTSW	7	45,315,044 (GRCm38)	missense	probably benign	0.07
R1579:Trpm4	UTSW	7	45,308,597 (GRCm38)	missense	probably damaging	1.00
R1768:Trpm4	UTSW	7	45,308,612 (GRCm38)	missense	probably damaging	0.97
R2847:Trpm4	UTSW	7	45,310,598 (GRCm38)	missense	probably damaging	1.00
R3883:Trpm4	UTSW	7	45,321,998 (GRCm38)	critical splice donor site	probably null
R3884:Trpm4	UTSW	7	45,321,998 (GRCm38)	critical splice donor site	probably null
R4895:Trpm4	UTSW	7	45,318,058 (GRCm38)	missense	probably damaging	0.98
R5056:Trpm4	UTSW	7	45,308,630 (GRCm38)	missense	probably damaging	0.98
R5060:Trpm4	UTSW	7	45,321,834 (GRCm38)	missense	probably damaging	1.00
R5069:Trpm4	UTSW	7	45,310,469 (GRCm38)	missense	probably damaging	1.00
R5783:Trpm4	UTSW	7	45,310,389 (GRCm38)	missense	probably benign
R5874:Trpm4	UTSW	7	45,327,749 (GRCm38)	missense	probably damaging	1.00
R6176:Trpm4	UTSW	7	45,326,676 (GRCm38)	missense	probably damaging	1.00
R6302:Trpm4	UTSW	7	45,327,719 (GRCm38)	critical splice donor site	probably null
R6431:Trpm4	UTSW	7	45,326,568 (GRCm38)	missense	possibly damaging	0.79
R6762:Trpm4	UTSW	7	45,304,816 (GRCm38)	utr 3 prime	probably benign
R6827:Trpm4	UTSW	7	45,318,628 (GRCm38)	missense	possibly damaging	0.89
R6845:Trpm4	UTSW	7	45,322,329 (GRCm38)	missense	possibly damaging	0.88
R6950:Trpm4	UTSW	7	45,319,280 (GRCm38)	missense	probably damaging	0.97
R7126:Trpm4	UTSW	7	45,310,709 (GRCm38)	splice site	probably null
R7159:Trpm4	UTSW	7	45,327,268 (GRCm38)	splice site	probably null
R7167:Trpm4	UTSW	7	45,327,719 (GRCm38)	critical splice donor site	probably null
R7386:Trpm4	UTSW	7	45,314,640 (GRCm38)	missense	possibly damaging	0.47
R7516:Trpm4	UTSW	7	45,305,020 (GRCm38)	missense	probably damaging	1.00
R7655:Trpm4	UTSW	7	45,321,809 (GRCm38)	missense	probably benign	0.00
R7656:Trpm4	UTSW	7	45,321,809 (GRCm38)	missense	probably benign	0.00
R7743:Trpm4	UTSW	7	45,308,338 (GRCm38)	missense	probably benign	0.14
R7943:Trpm4	UTSW	7	45,308,681 (GRCm38)	missense	probably damaging	1.00
R7955:Trpm4	UTSW	7	45,319,259 (GRCm38)	missense	probably damaging	1.00
R8060:Trpm4	UTSW	7	45,305,451 (GRCm38)	missense	probably damaging	1.00
R8119:Trpm4	UTSW	7	45,327,128 (GRCm38)	missense	probably damaging	1.00
R8225:Trpm4	UTSW	7	45,305,334 (GRCm38)	missense	probably benign
R8395:Trpm4	UTSW	7	45,309,210 (GRCm38)	missense	probably benign	0.00
R8509:Trpm4	UTSW	7	45,322,361 (GRCm38)	missense	probably damaging	1.00
R8897:Trpm4	UTSW	7	45,310,631 (GRCm38)	missense	probably benign	0.02
R9577:Trpm4	UTSW	7	45,305,008 (GRCm38)	nonsense	probably null
R9674:Trpm4	UTSW	7	45,333,387 (GRCm38)	missense	possibly damaging	0.87
R9731:Trpm4	UTSW	7	45,308,630 (GRCm38)	missense	probably damaging	0.98
X0018:Trpm4	UTSW	7	45,314,634 (GRCm38)	missense	possibly damaging	0.61
X0022:Trpm4	UTSW	7	45,310,511 (GRCm38)	missense	probably damaging	1.00
Z1177:Trpm4	UTSW	7	45,326,718 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CAAACGCACATGGACTGGAG -3'
(R):5'- ACAAAGCCAAGTGTCTCCG -3'

Sequencing Primer
(F):5'- GAGGAAATCTACCTCTTGGTATGCC -3'
(R):5'- AAGCCAAGTGTCTCCGAGCTG -3'

Posted On

2016-10-24