Mutagenetix > Incidental Mutation

Incidental Mutation 'R7423:Trpc4'

575800

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

045501-MU

Accession Numbers

Essential gene?

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

Stock #

R7423 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54063456-54225892 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54225450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 933 (V933E)

Ref Sequence

ENSEMBL: ENSMUSP00000029311 (fasta)

Gene Model

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

AlphaFold

Q9QUQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000029311
AA Change: V933E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029311
Gene: ENSMUSG00000027748
AA Change: V933E

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: V849E

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

SMART Domains

Protein: ENSMUSP00000143593
Gene: ENSMUSG00000027748
AA Change: V849E

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (91/95)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	A	T	17: 57,175,257 (GRCm39)	M85K	probably benign	Het
Actn4	C	T	7: 28,593,680 (GRCm39)	A905T	probably damaging	Het
Aff1	T	A	5: 103,994,967 (GRCm39)	V1055D	probably damaging	Het
Aox3	A	G	1: 58,160,228 (GRCm39)	E137G	possibly damaging	Het
Apaf1	A	T	10: 90,895,468 (GRCm39)	D443E	probably damaging	Het
Arl5b	C	A	2: 15,072,983 (GRCm39)	A28E	probably damaging	Het
Atg16l1	T	C	1: 87,714,023 (GRCm39)	V478A	probably damaging	Het
Atp6v1f	G	C	6: 29,468,105 (GRCm39)	E13Q	probably null	Het
Atpaf1	A	T	4: 115,647,827 (GRCm39)	K162M	probably damaging	Het
C3	A	T	17: 57,521,767 (GRCm39)	L1100Q	probably damaging	Het
Ccr1	A	G	9: 123,764,422 (GRCm39)	L36P	probably damaging	Het
Cct3	T	C	3: 88,216,503 (GRCm39)	L153S	probably benign	Het
Chd4	A	G	6: 125,105,822 (GRCm39)	D1813G	possibly damaging	Het
Chrm3	T	C	13: 9,928,845 (GRCm39)	I64V	probably benign	Het
Cnot2	A	T	10: 116,328,303 (GRCm39)	V477E	probably damaging	Het
Csf2rb2	T	A	15: 78,176,760 (GRCm39)	I211F	possibly damaging	Het
Dnah8	T	C	17: 30,923,743 (GRCm39)	L1237P	possibly damaging	Het
Dnttip2	T	C	3: 122,069,175 (GRCm39)	V130A	probably benign	Het
Dock10	G	A	1: 80,501,497 (GRCm39)	A1852V	possibly damaging	Het
Dock3	A	G	9: 106,844,370 (GRCm39)	V910A	probably damaging	Het
Drgx	A	G	14: 32,350,778 (GRCm39)	S205G	probably damaging	Het
Fbrs	G	A	7: 127,088,633 (GRCm39)	W738*	probably null	Het
Fmnl3	T	A	15: 99,227,281 (GRCm39)	D162V	probably damaging	Het
Fosl2	A	G	5: 32,307,807 (GRCm39)	R133G	probably damaging	Het
Frmpd1	A	G	4: 45,256,948 (GRCm39)	Q172R	probably damaging	Het
Fsd1l	A	T	4: 53,686,406 (GRCm39)	D273V	probably damaging	Het
Fstl4	T	A	11: 52,959,382 (GRCm39)	M141K	possibly damaging	Het
Gcfc2	A	G	6: 81,923,541 (GRCm39)	D535G	probably damaging	Het
Gm19410	A	C	8: 36,271,761 (GRCm39)	D1277A	probably benign	Het
Gnmt	T	A	17: 47,037,066 (GRCm39)	N211Y	probably damaging	Het
Hic2	A	G	16: 17,075,993 (GRCm39)	D274G	probably damaging	Het
Hnrnpu	A	G	1: 178,156,849 (GRCm39)		probably benign	Het
Icam5	T	C	9: 20,948,201 (GRCm39)	S670P	probably benign	Het
Ighv5-4	A	T	12: 113,561,120 (GRCm39)	L100Q	probably damaging	Het
Il17rb	A	T	14: 29,719,072 (GRCm39)	S337T	probably damaging	Het
Inf2	G	T	12: 112,576,172 (GRCm39)	R883L	unknown	Het
Inhbc	C	T	10: 127,193,275 (GRCm39)	C247Y	probably damaging	Het
Ints4	A	G	7: 97,156,926 (GRCm39)	K333E	probably damaging	Het
Iyd	A	T	10: 3,497,088 (GRCm39)	I148F	probably damaging	Het
Klk1b26	A	T	7: 43,664,193 (GRCm39)	D16V	probably damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lama2	A	T	10: 27,088,222 (GRCm39)	S852T	probably benign	Het
Mbtd1	A	G	11: 93,834,622 (GRCm39)	E600G	probably benign	Het
Mfap3	T	G	11: 57,420,329 (GRCm39)	N103K	probably damaging	Het
Mtor	G	A	4: 148,640,801 (GRCm39)	E2536K	possibly damaging	Het
Mug2	G	A	6: 122,056,685 (GRCm39)	S1210N	probably benign	Het
Nat8	G	A	6: 85,807,477 (GRCm39)	L219F	probably benign	Het
Nisch	A	G	14: 30,893,658 (GRCm39)	V1305A	probably benign	Het
Nup153	A	T	13: 46,850,120 (GRCm39)		probably null	Het
Or3a1b	G	A	11: 74,012,811 (GRCm39)	R232H	probably benign	Het
Otud6b	A	T	4: 14,825,858 (GRCm39)		probably null	Het
Pbld2	A	G	10: 62,883,783 (GRCm39)	T83A	probably damaging	Het
Pcx	A	T	19: 4,671,206 (GRCm39)	M1144L	probably benign	Het
Pdpk1	C	A	17: 24,329,874 (GRCm39)	R81L	probably benign	Het
Pik3cd	A	T	4: 149,736,220 (GRCm39)		probably null	Het
Plch2	A	C	4: 155,068,194 (GRCm39)	D1477E	probably damaging	Het
Plek2	A	G	12: 78,946,884 (GRCm39)	I51T	probably damaging	Het
Plekhn1	A	G	4: 156,315,142 (GRCm39)	V505A	probably benign	Het
Pofut2	T	C	10: 77,098,273 (GRCm39)	S129P	possibly damaging	Het
Prdx5	C	A	19: 6,887,370 (GRCm39)		probably benign	Het
Proca1	G	T	11: 78,085,643 (GRCm39)		probably benign	Het
Ptprs	A	C	17: 56,721,793 (GRCm39)	Y1752D	probably damaging	Het
Pum1	G	A	4: 130,501,856 (GRCm39)	V1127M	probably damaging	Het
Ralbp1	T	C	17: 66,165,976 (GRCm39)	R403G	probably damaging	Het
Reps1	A	T	10: 17,969,635 (GRCm39)	H246L	possibly damaging	Het
Rps6kc1	A	C	1: 190,531,293 (GRCm39)	M903R	probably damaging	Het
Rubcnl	A	G	14: 75,287,083 (GRCm39)	T584A	probably benign	Het
Samd9l	A	T	6: 3,374,408 (GRCm39)	V951E	probably damaging	Het
Sbf2	A	G	7: 110,038,055 (GRCm39)	F463L	possibly damaging	Het
Sdr16c6	G	A	4: 4,076,921 (GRCm39)		probably benign	Het
Shoc1	A	T	4: 59,076,264 (GRCm39)	S560T	probably benign	Het
Slc26a8	A	G	17: 28,867,177 (GRCm39)	I548T	probably benign	Het
Slc2a13	T	A	15: 91,456,883 (GRCm39)	I140F	probably damaging	Het
Smtn	A	T	11: 3,481,200 (GRCm39)		probably null	Het
Sobp	G	T	10: 42,898,564 (GRCm39)	C340*	probably null	Het
Sox6	A	T	7: 115,149,258 (GRCm39)	V413E	probably benign	Het
Spin1	T	C	13: 51,277,326 (GRCm39)		probably null	Het
Sra1	T	C	18: 36,800,536 (GRCm39)	T224A	probably benign	Het
Sv2c	A	T	13: 96,185,056 (GRCm39)	F207Y	probably benign	Het
Tcp10c	T	A	17: 13,581,503 (GRCm39)		probably null	Het
Tkt	G	A	14: 30,292,992 (GRCm39)	G490S	possibly damaging	Het
Tpgs1	G	T	10: 79,511,655 (GRCm39)	A266S	probably damaging	Het
Tprg1	T	G	16: 25,241,003 (GRCm39)	S260A	probably damaging	Het
Trdv2-1	T	A	14: 54,183,935 (GRCm39)	W56R	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Ulk4	A	T	9: 120,932,687 (GRCm39)	M1051K	possibly damaging	Het
Unc119b	A	G	5: 115,272,743 (GRCm39)	L76P	probably damaging	Het
Vmn2r15	G	A	5: 109,445,394 (GRCm39)	S10F	probably benign	Het
Vwce	A	G	19: 10,641,704 (GRCm39)	E810G	probably benign	Het
Wdr7	T	A	18: 63,910,451 (GRCm39)		probably null	Het
Wnk2	T	A	13: 49,191,608 (GRCm39)	E1283V	probably benign	Het
Zfp28	T	C	7: 6,396,956 (GRCm39)	C464R	probably damaging	Het
Zpld1	C	T	16: 55,054,027 (GRCm39)	C255Y	probably 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
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
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
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'- AGAAATTACTCGTCAACAGGCG -3'
(R):5'- TTCAAACATTTTGCCTGCCCAG -3'

Sequencing Primer
(F):5'- GCAGGAGCACTTGAGCGAAATATC -3'
(R):5'- CCCAGAGCACTATGGAAAATATG -3'

Posted On

2019-10-07