Mutagenetix > Incidental Mutation

Incidental Mutation 'R1623:Trpc4'

174762

Institutional Source

Beutler Lab

Gene Symbol

Trpc4

Ensembl Gene

ENSMUSG00000027748

Gene Name

transient receptor potential cation channel, subfamily C, member 4

Synonyms

Trrp4, Trp4, CCE1, STRPC4

MMRRC Submission

039660-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R1623 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54063456-54225892 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54206600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 600 (M600K)

Ref Sequence

ENSEMBL: ENSMUSP00000143593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029311] [ENSMUST00000200048] [ENSMUST00000200341]

AlphaFold

Q9QUQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000029311
AA Change: M600K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029311
Gene: ENSMUSG00000027748
AA Change: M600K

Domain	Start	End	E-Value	Type
Blast:ANK	33	63	4e-7	BLAST
ANK	69	98	8.72e-1	SMART
ANK	141	170	5.09e-2	SMART
Pfam:TRP_2	176	238	1.2e-30	PFAM
transmembrane domain	328	350	N/A	INTRINSIC
Pfam:Ion_trans	363	632	4.2e-33	PFAM
low complexity region	763	780	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000200048
AA Change: M600K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143593
Gene: ENSMUSG00000027748
AA Change: M600K

Domain	Start	End	E-Value	Type
Blast:ANK	33	63	2e-7	BLAST
ANK	69	98	8.72e-1	SMART
ANK	141	170	5.09e-2	SMART
Pfam:TRP_2	176	238	1.1e-30	PFAM
transmembrane domain	328	350	N/A	INTRINSIC
Pfam:Ion_trans	363	632	3.5e-33	PFAM
low complexity region	763	782	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200341

SMART Domains

Protein: ENSMUSP00000142921
Gene: ENSMUSG00000027748

Domain	Start	End	E-Value	Type
Blast:ANK	33	63	2e-7	BLAST
ANK	69	98	8.72e-1	SMART
ANK	141	170	5.09e-2	SMART
Pfam:TRP_2	176	238	6.4e-33	PFAM
transmembrane domain	331	351	N/A	INTRINSIC
transmembrane domain	366	383	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 94.9%
20x: 87.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice exhibit a significant reduction in agonist-induced Ca2+ entry and vasorelaxation of aortic rings. [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
Acbd5	A	T	2: 22,984,356 (GRCm39)	D294V	probably damaging	Het
Actn2	A	T	13: 12,355,320 (GRCm39)	I21N	probably benign	Het
Adamts2	C	A	11: 50,558,942 (GRCm39)	P219H	possibly damaging	Het
Atg16l2	A	G	7: 100,939,113 (GRCm39)	F584L	probably benign	Het
Ccdc81	C	T	7: 89,535,390 (GRCm39)	R282Q	probably benign	Het
Ccn4	G	T	15: 66,763,448 (GRCm39)	V12L	possibly damaging	Het
Cd200r3	G	A	16: 44,771,811 (GRCm39)	C25Y	possibly damaging	Het
Cdkl4	C	T	17: 80,863,731 (GRCm39)		probably null	Het
Chrne	T	C	11: 70,509,254 (GRCm39)	E109G	possibly damaging	Het
Clmp	A	G	9: 40,693,856 (GRCm39)	T358A	probably benign	Het
Cmtr1	G	T	17: 29,906,021 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,343,699 (GRCm39)	E389G	probably damaging	Het
Ctc1	C	T	11: 68,911,968 (GRCm39)	T49M	probably damaging	Het
Cyth3	T	A	5: 143,687,127 (GRCm39)	M120K	probably damaging	Het
D430041D05Rik	T	A	2: 103,983,308 (GRCm39)	E1996V	probably damaging	Het
Dnah9	T	C	11: 65,928,463 (GRCm39)	M2069V	probably damaging	Het
Dsg1c	T	C	18: 20,408,234 (GRCm39)	Y428H	probably damaging	Het
Exosc8	T	A	3: 54,641,752 (GRCm39)	T7S	probably damaging	Het
F5	A	G	1: 164,023,191 (GRCm39)	Y1583C	probably damaging	Het
Fam178b	A	G	1: 36,683,405 (GRCm39)	I105T	probably damaging	Het
Fam181a	T	A	12: 103,282,591 (GRCm39)	Y165*	probably null	Het
Fbn2	G	T	18: 58,181,620 (GRCm39)	N1880K	possibly damaging	Het
Gbgt1	A	T	2: 28,394,988 (GRCm39)	M209L	probably benign	Het
Gkn2	C	A	6: 87,355,152 (GRCm39)	Y120*	probably null	Het
Gm14295	T	A	2: 176,499,157 (GRCm39)	D1E	probably damaging	Het
Gpr141	A	T	13: 19,936,082 (GRCm39)		probably null	Het
Gramd2b	C	A	18: 56,565,423 (GRCm39)	P26Q	probably benign	Het
Greb1	A	G	12: 16,724,771 (GRCm39)	I1801T	probably damaging	Het
Gstm3	T	A	3: 107,875,151 (GRCm39)	I64F	possibly damaging	Het
Gtse1	A	G	15: 85,751,779 (GRCm39)	Y324C	probably benign	Het
Hal	C	G	10: 93,352,159 (GRCm39)	T650R	probably benign	Het
Hdac7	G	A	15: 97,706,285 (GRCm39)	Q293*	probably null	Het
Hdlbp	A	T	1: 93,351,591 (GRCm39)	N437K	probably damaging	Het
Hif1an	A	G	19: 44,557,862 (GRCm39)	D248G	probably damaging	Het
Hivep3	T	C	4: 119,952,901 (GRCm39)	S406P	possibly damaging	Het
Hmcn2	A	T	2: 31,348,051 (GRCm39)	D4899V	possibly damaging	Het
Ikzf3	C	T	11: 98,381,157 (GRCm39)		probably null	Het
Inka2	G	A	3: 105,624,136 (GRCm39)	G151D	probably damaging	Het
Itgb4	C	A	11: 115,882,142 (GRCm39)	Y819*	probably null	Het
Itpripl1	T	C	2: 126,983,555 (GRCm39)	D189G	possibly damaging	Het
Kmt2e	A	G	5: 23,687,500 (GRCm39)	Y450C	probably damaging	Het
Mc4r	A	G	18: 66,993,068 (GRCm39)	L15P	probably benign	Het
Mical1	T	G	10: 41,357,389 (GRCm39)		probably null	Het
Mical3	C	T	6: 121,001,768 (GRCm39)	V575M	probably damaging	Het
Mki67	A	T	7: 135,310,547 (GRCm39)		probably null	Het
Mocs2	G	A	13: 114,961,158 (GRCm39)	E52K	probably benign	Het
Myo7b	T	C	18: 32,133,104 (GRCm39)	N415S	probably damaging	Het
Notch1	G	A	2: 26,368,624 (GRCm39)	T555I	possibly damaging	Het
Notch3	T	C	17: 32,358,165 (GRCm39)	D1686G	probably benign	Het
Oit3	A	G	10: 59,264,061 (GRCm39)	F358L	probably damaging	Het
Or10x1	A	C	1: 174,196,515 (GRCm39)	I11L	probably benign	Het
Or6k4	A	T	1: 173,964,883 (GRCm39)	D191V	probably damaging	Het
Orai1	T	A	5: 123,167,265 (GRCm39)	I146N	probably damaging	Het
Pck1	A	G	2: 172,996,511 (GRCm39)	I142V	probably benign	Het
Pdap1	C	T	5: 145,069,739 (GRCm39)	V89M	possibly damaging	Het
Phf11a	T	C	14: 59,525,000 (GRCm39)	D68G	possibly damaging	Het
Pilrb2	T	C	5: 137,869,510 (GRCm39)	N30S	probably damaging	Het
Pkd1	G	A	17: 24,797,243 (GRCm39)	V2551I	probably damaging	Het
Pnpla7	T	C	2: 24,942,611 (GRCm39)	V132A	probably damaging	Het
Prr35	G	A	17: 26,166,508 (GRCm39)	P343L	probably benign	Het
Rad18	C	T	6: 112,605,480 (GRCm39)	S398N	probably damaging	Het
Rdh16f1	C	A	10: 127,626,722 (GRCm39)	N258K	probably benign	Het
Riox2	A	G	16: 59,303,405 (GRCm39)	H240R	probably damaging	Het
Ruvbl1	C	T	6: 88,462,752 (GRCm39)	A292V	probably damaging	Het
Ryr1	C	T	7: 28,794,915 (GRCm39)	G1151S	probably damaging	Het
Serpinb9b	T	C	13: 33,213,548 (GRCm39)	I35T	possibly damaging	Het
Slc1a1	T	A	19: 28,882,122 (GRCm39)	M328K	probably benign	Het
Slc7a13	A	T	4: 19,824,031 (GRCm39)	T267S	possibly damaging	Het
Speer3	G	T	5: 13,846,335 (GRCm39)	M218I	probably benign	Het
Sptan1	A	G	2: 29,876,432 (GRCm39)	I271V	probably damaging	Het
Swap70	A	G	7: 109,863,255 (GRCm39)	T195A	probably benign	Het
Tgs1	T	A	4: 3,585,964 (GRCm39)	N280K	probably benign	Het
Tonsl	A	G	15: 76,522,709 (GRCm39)	C181R	probably damaging	Het
Trdn	A	G	10: 33,134,098 (GRCm39)	K333R	possibly damaging	Het
Ubr3	C	T	2: 69,808,067 (GRCm39)	Q1183*	probably null	Het
Ubxn4	T	A	1: 128,200,588 (GRCm39)	L360I	possibly damaging	Het
Ugt2b1	T	A	5: 87,074,267 (GRCm39)	T31S	probably benign	Het
Uspl1	T	C	5: 149,152,009 (GRCm39)	S1056P	probably damaging	Het
Vmn2r60	A	T	7: 41,785,279 (GRCm39)	K164*	probably null	Het
Vwce	T	A	19: 10,624,108 (GRCm39)	L333*	probably null	Het
Wdr95	T	A	5: 149,497,581 (GRCm39)	L253Q	probably damaging	Het
Zfp113	T	C	5: 138,143,930 (GRCm39)	M107V	probably benign	Het
Zfp142	T	C	1: 74,610,934 (GRCm39)	T851A	possibly damaging	Het

Other mutations in Trpc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Trpc4	APN	3	54,209,596 (GRCm39)	missense	probably damaging	1.00
IGL01067:Trpc4	APN	3	54,129,983 (GRCm39)	missense	probably benign	0.01
IGL01475:Trpc4	APN	3	54,173,828 (GRCm39)	missense	possibly damaging	0.87
IGL01544:Trpc4	APN	3	54,209,567 (GRCm39)	missense	probably damaging	0.99
IGL01688:Trpc4	APN	3	54,173,495 (GRCm39)	splice site	probably benign
IGL02134:Trpc4	APN	3	54,223,075 (GRCm39)	missense	possibly damaging	0.46
IGL02237:Trpc4	APN	3	54,129,783 (GRCm39)	missense	probably damaging	1.00
IGL02301:Trpc4	APN	3	54,198,653 (GRCm39)	missense	probably damaging	0.97
IGL02549:Trpc4	APN	3	54,129,770 (GRCm39)	missense	possibly damaging	0.92
IGL02742:Trpc4	APN	3	54,206,667 (GRCm39)	missense	probably damaging	1.00
IGL02815:Trpc4	APN	3	54,206,695 (GRCm39)	splice site	probably benign
R0498:Trpc4	UTSW	3	54,198,632 (GRCm39)	missense	probably damaging	1.00
R0555:Trpc4	UTSW	3	54,209,511 (GRCm39)	splice site	probably benign
R0609:Trpc4	UTSW	3	54,102,189 (GRCm39)	missense	probably damaging	1.00
R1351:Trpc4	UTSW	3	54,102,423 (GRCm39)	missense	probably damaging	1.00
R1595:Trpc4	UTSW	3	54,223,236 (GRCm39)	missense	probably benign	0.02
R1763:Trpc4	UTSW	3	54,102,243 (GRCm39)	missense	possibly damaging	0.90
R1843:Trpc4	UTSW	3	54,187,415 (GRCm39)	missense	probably benign	0.19
R1856:Trpc4	UTSW	3	54,187,410 (GRCm39)	missense	probably damaging	1.00
R1936:Trpc4	UTSW	3	54,187,311 (GRCm39)	missense	probably damaging	1.00
R2196:Trpc4	UTSW	3	54,209,614 (GRCm39)	missense	probably benign	0.03
R2441:Trpc4	UTSW	3	54,129,704 (GRCm39)	missense	probably damaging	0.96
R2877:Trpc4	UTSW	3	54,198,761 (GRCm39)	missense	probably damaging	1.00
R3846:Trpc4	UTSW	3	54,225,433 (GRCm39)	missense	probably benign	0.22
R3931:Trpc4	UTSW	3	54,225,516 (GRCm39)	missense	probably damaging	1.00
R4854:Trpc4	UTSW	3	54,209,639 (GRCm39)	missense	probably damaging	1.00
R5024:Trpc4	UTSW	3	54,102,217 (GRCm39)	missense	probably benign	0.11
R5284:Trpc4	UTSW	3	54,187,368 (GRCm39)	missense	probably damaging	0.99
R5320:Trpc4	UTSW	3	54,206,599 (GRCm39)	missense	probably damaging	0.99
R5973:Trpc4	UTSW	3	54,223,263 (GRCm39)	missense	probably damaging	1.00
R6276:Trpc4	UTSW	3	54,225,441 (GRCm39)	missense	probably benign	0.25
R6335:Trpc4	UTSW	3	54,224,995 (GRCm39)	critical splice donor site	probably null
R7082:Trpc4	UTSW	3	54,206,519 (GRCm39)	nonsense	probably null
R7215:Trpc4	UTSW	3	54,102,317 (GRCm39)	missense	possibly damaging	0.83
R7299:Trpc4	UTSW	3	54,225,048 (GRCm39)	missense	possibly damaging	0.87
R7423:Trpc4	UTSW	3	54,225,450 (GRCm39)	missense	probably benign
R7459:Trpc4	UTSW	3	54,198,653 (GRCm39)	missense	probably damaging	0.97
R7538:Trpc4	UTSW	3	54,225,516 (GRCm39)	missense	possibly damaging	0.92
R7542:Trpc4	UTSW	3	54,223,075 (GRCm39)	missense	probably damaging	1.00
R7823:Trpc4	UTSW	3	54,209,640 (GRCm39)	nonsense	probably null
R7868:Trpc4	UTSW	3	54,209,707 (GRCm39)	missense	probably benign	0.00
R8046:Trpc4	UTSW	3	54,102,335 (GRCm39)	missense	probably damaging	1.00
R8164:Trpc4	UTSW	3	54,223,226 (GRCm39)	missense	probably benign	0.31
R8235:Trpc4	UTSW	3	54,209,669 (GRCm39)	missense	probably benign	0.01
R8263:Trpc4	UTSW	3	54,129,756 (GRCm39)	missense	probably damaging	0.99
R8438:Trpc4	UTSW	3	54,129,674 (GRCm39)	missense	possibly damaging	0.90
R8854:Trpc4	UTSW	3	54,102,122 (GRCm39)	nonsense	probably null
R8987:Trpc4	UTSW	3	54,102,132 (GRCm39)	missense	probably benign	0.09
R9023:Trpc4	UTSW	3	54,102,254 (GRCm39)	missense	possibly damaging	0.52
R9196:Trpc4	UTSW	3	54,129,872 (GRCm39)	missense	probably damaging	1.00
R9210:Trpc4	UTSW	3	54,173,741 (GRCm39)	missense	probably benign	0.07
R9350:Trpc4	UTSW	3	54,209,610 (GRCm39)	missense	probably damaging	1.00
R9600:Trpc4	UTSW	3	54,102,248 (GRCm39)	nonsense	probably null
R9605:Trpc4	UTSW	3	54,225,550 (GRCm39)	missense	probably benign
R9644:Trpc4	UTSW	3	54,129,699 (GRCm39)	missense	probably damaging	1.00
R9749:Trpc4	UTSW	3	54,102,302 (GRCm39)	missense	probably damaging	1.00
R9755:Trpc4	UTSW	3	54,223,215 (GRCm39)	missense	probably damaging	1.00
X0066:Trpc4	UTSW	3	54,102,171 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACAAAAGGTAGGTTCCAATGCCC -3'
(R):5'- TGGACTGCTGATAGATGGCTGATCTC -3'

Sequencing Primer
(F):5'- AGGTTCCAATGCCCTTTGGATAG -3'
(R):5'- ATGGCTCCCTGGCAACATAG -3'

Posted On

2014-04-24