Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01475:Trpc4'

88413

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trpc4

Ensembl Gene

ENSMUSG00000027748

Gene Name

transient receptor potential cation channel, subfamily C, member 4

Synonyms

Trrp4, STRPC4, Trp4, CCE1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

IGL01475

Quality Score

Status

Chromosome

Chromosomal Location

54156035-54318471 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54266407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 407 (L407F)

Ref Sequence

ENSEMBL: ENSMUSP00000143593 (fasta)

Gene Model

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

AlphaFold

Q9QUQ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029311
AA Change: L407F

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029311
Gene: ENSMUSG00000027748
AA Change: L407F

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: ENSMUST00000199399

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200048
AA Change: L407F

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143593
Gene: ENSMUSG00000027748
AA Change: L407F

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	T	14: 59,142,803	N15K	possibly damaging	Het
4833427G06Rik	A	G	9: 51,100,058	I93T	probably benign	Het
Adam32	A	T	8: 24,872,648	I587K	probably damaging	Het
Adamtsl4	T	C	3: 95,677,533	S942G	probably benign	Het
Adamtsl5	A	G	10: 80,344,916	F104S	probably damaging	Het
Adgrf5	A	G	17: 43,450,354	D980G	probably benign	Het
Apba1	A	T	19: 23,917,586	D462V	possibly damaging	Het
Arhgef11	T	C	3: 87,727,126		probably benign	Het
Cd74	T	C	18: 60,810,321		probably benign	Het
Cdc16	T	C	8: 13,781,542	S592P	probably benign	Het
Cenpj	A	G	14: 56,565,045	M21T	possibly damaging	Het
Col28a1	A	G	6: 8,103,521	L425S	probably damaging	Het
Dbt	C	T	3: 116,520,259	T25I	possibly damaging	Het
Dguok	C	A	6: 83,490,570	M98I	possibly damaging	Het
Dmxl1	T	C	18: 49,871,714	L943P	probably damaging	Het
Eloa	G	A	4: 136,010,920	S243L	probably benign	Het
Enkur	C	A	2: 21,196,719	A52S	probably damaging	Het
Ezh1	T	C	11: 101,192,961	E744G	probably damaging	Het
Fbxw11	T	C	11: 32,722,101	S190P	possibly damaging	Het
Foxb1	G	A	9: 69,759,268		probably benign	Het
Gabra5	C	T	7: 57,408,684	G439S	probably damaging	Het
Gtf2h2	A	T	13: 100,481,033	V207D	probably damaging	Het
Krt76	A	G	15: 101,888,513	V317A	probably benign	Het
Lair1	C	A	7: 4,009,684		probably benign	Het
Lrit2	T	A	14: 37,069,094	H243Q	probably damaging	Het
Mast3	C	T	8: 70,779,530	A1268T	probably damaging	Het
Matn2	G	A	15: 34,316,525	M4I	possibly damaging	Het
Mob1b	T	A	5: 88,749,643	F137I	probably damaging	Het
Mreg	T	C	1: 72,164,166		probably benign	Het
Nom1	T	C	5: 29,446,274	V684A	possibly damaging	Het
Pate2	T	A	9: 35,669,702	L1Q	probably null	Het
Pla2r1	T	C	2: 60,441,081		probably benign	Het
Plxna1	A	G	6: 89,354,888	F447L	possibly damaging	Het
Pno1	A	T	11: 17,210,992	I114N	probably damaging	Het
Ppp1r7	T	G	1: 93,360,818		probably benign	Het
Pprc1	T	A	19: 46,071,529	Y1503N	probably benign	Het
Rab30	T	C	7: 92,835,722	V132A	probably damaging	Het
Slc15a4	T	C	5: 127,601,960	T439A	probably benign	Het
Slc29a3	A	G	10: 60,723,817	V186A	possibly damaging	Het
Stxbp5l	G	A	16: 37,345,092	T88I	possibly damaging	Het
Tarbp1	A	G	8: 126,433,962	V1250A	probably benign	Het
Tcte2	A	T	17: 13,717,562		probably benign	Het
Trp53bp1	A	T	2: 121,270,319		probably null	Het
Vmn1r6	T	C	6: 57,002,911	F164S	probably damaging	Het
Zfp579	C	A	7: 4,994,744	R56L	probably benign	Het

Other mutations in Trpc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Trpc4	APN	3	54302175	missense	probably damaging	1.00
IGL01067:Trpc4	APN	3	54222562	missense	probably benign	0.01
IGL01544:Trpc4	APN	3	54302146	missense	probably damaging	0.99
IGL01688:Trpc4	APN	3	54266074	splice site	probably benign
IGL02134:Trpc4	APN	3	54315654	missense	possibly damaging	0.46
IGL02237:Trpc4	APN	3	54222362	missense	probably damaging	1.00
IGL02301:Trpc4	APN	3	54291232	missense	probably damaging	0.97
IGL02549:Trpc4	APN	3	54222349	missense	possibly damaging	0.92
IGL02742:Trpc4	APN	3	54299246	missense	probably damaging	1.00
IGL02815:Trpc4	APN	3	54299274	splice site	probably benign
R0498:Trpc4	UTSW	3	54291211	missense	probably damaging	1.00
R0555:Trpc4	UTSW	3	54302090	splice site	probably benign
R0609:Trpc4	UTSW	3	54194768	missense	probably damaging	1.00
R1351:Trpc4	UTSW	3	54195002	missense	probably damaging	1.00
R1595:Trpc4	UTSW	3	54315815	missense	probably benign	0.02
R1623:Trpc4	UTSW	3	54299179	missense	probably damaging	1.00
R1763:Trpc4	UTSW	3	54194822	missense	possibly damaging	0.90
R1843:Trpc4	UTSW	3	54279994	missense	probably benign	0.19
R1856:Trpc4	UTSW	3	54279989	missense	probably damaging	1.00
R1936:Trpc4	UTSW	3	54279890	missense	probably damaging	1.00
R2196:Trpc4	UTSW	3	54302193	missense	probably benign	0.03
R2441:Trpc4	UTSW	3	54222283	missense	probably damaging	0.96
R2877:Trpc4	UTSW	3	54291340	missense	probably damaging	1.00
R3846:Trpc4	UTSW	3	54318012	missense	probably benign	0.22
R3931:Trpc4	UTSW	3	54318095	missense	probably damaging	1.00
R4854:Trpc4	UTSW	3	54302218	missense	probably damaging	1.00
R5024:Trpc4	UTSW	3	54194796	missense	probably benign	0.11
R5284:Trpc4	UTSW	3	54279947	missense	probably damaging	0.99
R5320:Trpc4	UTSW	3	54299178	missense	probably damaging	0.99
R5973:Trpc4	UTSW	3	54315842	missense	probably damaging	1.00
R6276:Trpc4	UTSW	3	54318020	missense	probably benign	0.25
R6335:Trpc4	UTSW	3	54317574	critical splice donor site	probably null
R7082:Trpc4	UTSW	3	54299098	nonsense	probably null
R7215:Trpc4	UTSW	3	54194896	missense	possibly damaging	0.83
R7299:Trpc4	UTSW	3	54317627	missense	possibly damaging	0.87
R7423:Trpc4	UTSW	3	54318029	missense	probably benign
R7459:Trpc4	UTSW	3	54291232	missense	probably damaging	0.97
R7538:Trpc4	UTSW	3	54318095	missense	possibly damaging	0.92
R7542:Trpc4	UTSW	3	54315654	missense	probably damaging	1.00
R7823:Trpc4	UTSW	3	54302219	nonsense	probably null
R7868:Trpc4	UTSW	3	54302286	missense	probably benign	0.00
R8046:Trpc4	UTSW	3	54194914	missense	probably damaging	1.00
R8164:Trpc4	UTSW	3	54315805	missense	probably benign	0.31
R8235:Trpc4	UTSW	3	54302248	missense	probably benign	0.01
R8263:Trpc4	UTSW	3	54222335	missense	probably damaging	0.99
R8438:Trpc4	UTSW	3	54222253	missense	possibly damaging	0.90
R8854:Trpc4	UTSW	3	54194701	nonsense	probably null
R8987:Trpc4	UTSW	3	54194711	missense	probably benign	0.09
R9023:Trpc4	UTSW	3	54194833	missense	possibly damaging	0.52
R9196:Trpc4	UTSW	3	54222451	missense	probably damaging	1.00
R9210:Trpc4	UTSW	3	54266320	missense	probably benign	0.07
R9350:Trpc4	UTSW	3	54302189	missense	probably damaging	1.00
R9600:Trpc4	UTSW	3	54194827	nonsense	probably null
R9605:Trpc4	UTSW	3	54318129	missense	probably benign
R9644:Trpc4	UTSW	3	54222278	missense	probably damaging	1.00
R9749:Trpc4	UTSW	3	54194881	missense	probably damaging	1.00
R9755:Trpc4	UTSW	3	54315794	missense	probably damaging	1.00
X0066:Trpc4	UTSW	3	54194750	missense	probably damaging	1.00

Posted On

2013-11-18