Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01067:Trpc4'

50699

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: 0.146) question?

Stock #

IGL01067

Quality Score

Status

Chromosome

Chromosomal Location

54156035-54318471 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 54222562 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 250 (Q250K)

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: Q250K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000029311
Gene: ENSMUSG00000027748
AA Change: Q250K

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: Q250K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000143593
Gene: ENSMUSG00000027748
AA Change: Q250K

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: Q250K

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

SMART Domains

Protein: ENSMUSP00000142921
Gene: ENSMUSG00000027748
AA Change: Q250K

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
A330008L17Rik	T	C	8: 99,421,954		noncoding transcript	Het
Acp4	C	T	7: 44,253,452	V331I	probably benign	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Alg6	T	C	4: 99,741,570	V128A	probably benign	Het
Ank3	A	G	10: 69,850,196	K280E	probably damaging	Het
Bfar	T	C	16: 13,685,241	C36R	probably damaging	Het
Car14	A	G	3: 95,898,816	I311T	probably damaging	Het
Cd300c	T	C	11: 114,960,427		probably benign	Het
Cfap100	T	A	6: 90,406,114	E513V	probably damaging	Het
Clip1	C	A	5: 123,630,804	K612N	probably damaging	Het
Depdc5	A	G	5: 32,899,067		probably null	Het
Dock3	A	T	9: 107,082,373		probably null	Het
Dph6	A	T	2: 114,647,809	M17K	probably damaging	Het
Enkur	T	C	2: 21,189,231	Q177R	probably benign	Het
Faap100	T	C	11: 120,372,132	H800R	probably damaging	Het
Fastkd2	T	G	1: 63,737,771		probably benign	Het
Fcgr2b	A	T	1: 170,968,053	N102K	possibly damaging	Het
Fezf1	C	T	6: 23,247,843	V78I	possibly damaging	Het
Fmn2	A	T	1: 174,503,319	D425V	unknown	Het
Fnta	G	A	8: 26,007,201	Q207*	probably null	Het
Fpr3	T	A	17: 17,970,566	V33D	probably benign	Het
Fshr	C	T	17: 88,985,393	C619Y	possibly damaging	Het
Gbp3	T	C	3: 142,566,597		probably null	Het
Gjb2	A	G	14: 57,100,172	V193A	possibly damaging	Het
Il4ra	A	G	7: 125,575,161	T292A	probably benign	Het
Lama5	A	G	2: 180,176,543		probably benign	Het
Marveld3	G	T	8: 109,961,964	D48E	possibly damaging	Het
Meox1	A	T	11: 101,893,773	I78N	probably benign	Het
Ncor1	A	T	11: 62,392,528	H444Q	probably damaging	Het
Ndst3	T	C	3: 123,546,817	Q784R	probably damaging	Het
Olfr1123	A	G	2: 87,418,370	I107M	probably benign	Het
Olfr1294	T	A	2: 111,538,014	I92F	probably damaging	Het
Pld5	A	T	1: 176,274,879		probably benign	Het
Plk1	G	A	7: 122,168,925	R456H	probably damaging	Het
Polr2a	T	A	11: 69,748,014	I65F	possibly damaging	Het
Ptprd	T	A	4: 76,059,685	I196F	probably damaging	Het
Qsox2	T	C	2: 26,228,396	N121S	probably damaging	Het
Reln	A	G	5: 21,979,666	L1617S	probably damaging	Het
Rragc	T	C	4: 123,929,968	F345L	probably benign	Het
Sass6	A	T	3: 116,613,956	E240D	possibly damaging	Het
Shcbp1l	A	C	1: 153,436,024	S308R	possibly damaging	Het
Slc1a5	T	A	7: 16,786,879	C224*	probably null	Het
Slc27a5	T	C	7: 12,989,072	E567G	probably damaging	Het
Synj2	T	A	17: 6,037,926	N1417K	possibly damaging	Het
Tbc1d9	A	G	8: 83,234,162	T214A	probably damaging	Het
Tjp3	C	A	10: 81,273,865	V835L	probably benign	Het
Ttn	A	T	2: 76,745,162	I25129N	probably damaging	Het
Ube4a	T	A	9: 44,944,865	Y523F	probably damaging	Het
Zfp971	G	A	2: 178,023,382		probably null	Het

Other mutations in Trpc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Trpc4	APN	3	54302175	missense	probably damaging	1.00
IGL01475:Trpc4	APN	3	54266407	missense	possibly damaging	0.87
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

2013-06-21