Mutagenetix > Incidental Mutation

Incidental Mutation 'R5024:Trpc4'

391203

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

042615-MU

Accession Numbers

Essential gene?

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

Stock #

R5024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54063456-54225892 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54102217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 38 (N38K)

Ref Sequence

ENSEMBL: ENSMUSP00000143593 (fasta)

Gene Model

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

AlphaFold

Q9QUQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000029311
AA Change: N38K

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029311
Gene: ENSMUSG00000027748
AA Change: N38K

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

noncoding transcript
Transcript: ENSMUST00000199359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199399

Predicted Effect

probably benign
Transcript: ENSMUST00000200048
AA Change: N38K

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143593
Gene: ENSMUSG00000027748
AA Change: N38K

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
AA Change: N38K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000142921
Gene: ENSMUSG00000027748
AA Change: N38K

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

Meta Mutation Damage Score

0.0604

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (95/96)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	A	G	5: 129,248,959 (GRCm39)	N575S	probably damaging	Het
Akap6	C	T	12: 53,189,345 (GRCm39)	T2253M	probably benign	Het
Arhgef37	A	C	18: 61,639,511 (GRCm39)	N289K	probably damaging	Het
Atad2b	A	C	12: 4,987,534 (GRCm39)	T121P	probably benign	Het
Atp4a	A	C	7: 30,415,289 (GRCm39)	D303A	possibly damaging	Het
Calu	A	T	6: 29,374,518 (GRCm39)		probably benign	Het
Ccdc141	A	C	2: 76,885,047 (GRCm39)	N531K	probably benign	Het
Ccdc146	T	C	5: 21,604,612 (GRCm39)		probably null	Het
Cd207	G	A	6: 83,651,301 (GRCm39)	T218I	probably damaging	Het
Cd2ap	A	C	17: 43,116,236 (GRCm39)		probably null	Het
Ceacam23	A	G	7: 17,644,607 (GRCm39)	I575V	probably benign	Het
Clip3	G	A	7: 29,991,644 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,751 (GRCm39)	R432H	possibly damaging	Het
Csmd2	A	G	4: 128,215,141 (GRCm39)	Y521C	possibly damaging	Het
Dnah8	A	T	17: 30,955,070 (GRCm39)	E2033V	probably damaging	Het
Eng	T	G	2: 32,563,404 (GRCm39)	V319G	probably benign	Het
Erp44	C	T	4: 48,241,296 (GRCm39)	W57*	probably null	Het
Etv1	T	A	12: 38,904,233 (GRCm39)		probably null	Het
Eva1c	T	C	16: 90,673,081 (GRCm39)		probably null	Het
Fam221b	T	A	4: 43,659,674 (GRCm39)	N482I	probably damaging	Het
Fam83h	T	C	15: 75,876,991 (GRCm39)	H202R	probably damaging	Het
Fbxw13	T	C	9: 109,008,403 (GRCm39)	T449A	probably benign	Het
Fbxw25	A	T	9: 109,492,442 (GRCm39)		probably null	Het
Frmd3	T	A	4: 74,016,381 (GRCm39)	S99T	probably benign	Het
Gm5174	G	T	10: 86,492,451 (GRCm39)		noncoding transcript	Het
Gm815	C	T	19: 26,865,175 (GRCm39)	Q49*	probably null	Het
H2-DMa	A	T	17: 34,357,461 (GRCm39)	I245F	possibly damaging	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Hirip3	A	G	7: 126,463,661 (GRCm39)		probably null	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Hmcn1	T	A	1: 150,556,439 (GRCm39)	E2449V	possibly damaging	Het
Igll1	G	T	16: 16,681,657 (GRCm39)	H33N	probably benign	Het
Il6	T	C	5: 30,224,512 (GRCm39)	L184P	probably damaging	Het
Impg2	T	A	16: 56,080,463 (GRCm39)	S756T	probably damaging	Het
Insyn2a	A	G	7: 134,520,207 (GRCm39)	S108P	probably damaging	Het
Kank4	T	G	4: 98,673,898 (GRCm39)	D5A	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcns2	A	T	15: 34,839,683 (GRCm39)	T349S	probably benign	Het
Keap1	A	G	9: 21,148,522 (GRCm39)	Y162H	probably damaging	Het
Kif9	T	C	9: 110,312,161 (GRCm39)	F10L	possibly damaging	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,326,184 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lpar6	A	G	14: 73,476,809 (GRCm39)	T257A	probably damaging	Het
Lpin1	A	T	12: 16,604,007 (GRCm39)	L608Q	probably benign	Het
Lyst	T	C	13: 13,808,989 (GRCm39)	S220P	probably benign	Het
M1ap	A	G	6: 83,005,339 (GRCm39)		probably benign	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Myo5b	A	T	18: 74,849,105 (GRCm39)	T1115S	possibly damaging	Het
Mysm1	C	A	4: 94,839,253 (GRCm39)	V683F	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,155 (GRCm38)		noncoding transcript	Het
Odad2	T	C	18: 7,088,555 (GRCm39)	M1005V	probably benign	Het
Or14c39	A	T	7: 86,344,089 (GRCm39)	M142L	probably benign	Het
Or2ak5	T	A	11: 58,611,776 (GRCm39)	I33F	probably benign	Het
Or5al6	G	T	2: 85,976,877 (GRCm39)	A67E	probably damaging	Het
Or8j3c	C	T	2: 86,253,805 (GRCm39)	G72S	possibly damaging	Het
Otud6b	T	A	4: 14,826,293 (GRCm39)	Q34L	probably damaging	Het
Parp11	C	T	6: 127,448,599 (GRCm39)	T72I	probably damaging	Het
Pbx1	T	A	1: 168,011,158 (GRCm39)	D343V	possibly damaging	Het
Phf11	T	C	14: 59,495,932 (GRCm39)		probably null	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Pramel15	C	A	4: 144,099,878 (GRCm39)	E296*	probably null	Het
Ranbp9	A	T	13: 43,588,331 (GRCm39)	I67N	probably damaging	Het
Rasgrp4	A	G	7: 28,847,832 (GRCm39)	E414G	probably damaging	Het
Rbbp5	A	G	1: 132,418,226 (GRCm39)	H15R	possibly damaging	Het
Scd2	A	G	19: 44,289,710 (GRCm39)	Y235C	probably benign	Het
Sdr16c5	C	T	4: 4,010,365 (GRCm39)	G170S	probably damaging	Het
Sh3bp4	G	T	1: 89,073,317 (GRCm39)	G722C	probably damaging	Het
Shmt1	A	T	11: 60,688,305 (GRCm39)		probably benign	Het
Slc12a1	A	G	2: 125,008,057 (GRCm39)	I206V	probably benign	Het
Slc26a3	A	G	12: 31,503,907 (GRCm39)	D304G	probably benign	Het
Slc26a7	T	A	4: 14,532,572 (GRCm39)	D434V	possibly damaging	Het
Slc6a16	G	T	7: 44,909,390 (GRCm39)	M185I	probably benign	Het
Stat4	A	G	1: 52,121,729 (GRCm39)	I363V	possibly damaging	Het
Tgfb1i1	G	T	7: 127,847,389 (GRCm39)	M1I	probably null	Het
Thoc2l	A	G	5: 104,670,124 (GRCm39)	K1549E	possibly damaging	Het
Tmem225	T	C	9: 40,060,639 (GRCm39)	V66A	probably benign	Het
Tmtc4	T	C	14: 123,178,714 (GRCm39)		probably null	Het
Ttll12	A	T	15: 83,471,314 (GRCm39)	Y218N	probably damaging	Het
Ttn	A	T	2: 76,778,769 (GRCm39)		probably null	Het
Tulp1	A	C	17: 28,570,969 (GRCm39)	Y178*	probably null	Het
Vmn2r58	A	G	7: 41,513,746 (GRCm39)	V299A	probably damaging	Het
Washc4	C	A	10: 83,419,200 (GRCm39)	Q911K	possibly damaging	Het
Wdr3	T	C	3: 100,062,252 (GRCm39)	D221G	probably benign	Het
Zan	A	T	5: 137,460,155 (GRCm39)	C1245*	probably null	Het
Zfyve9	A	C	4: 108,548,866 (GRCm39)	S773A	probably benign	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
R1623:Trpc4	UTSW	3	54,206,600 (GRCm39)	missense	probably damaging	1.00
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
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'- AATTGGCATGCAAGTGCTCAC -3'
(R):5'- ACCTCTTTTCTGATGGCGTG -3'

Sequencing Primer
(F):5'- GCTCACACTCTGCTTTCTCTGTATG -3'
(R):5'- CGCATCGCCTACATAGACATTG -3'

Posted On

2016-06-06