Mutagenetix > Incidental Mutation

Incidental Mutation 'R7542:Trpc4'

583928

Institutional Source

Beutler Lab

Gene Symbol

Trpc4

Ensembl Gene

ENSMUSG00000027748

Gene Name

transient receptor potential cation channel, subfamily C, member 4

Synonyms

Trrp4, STRPC4, Trp4, CCE1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R7542 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54156035-54318471 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54315654 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 706 (Y706C)

Ref Sequence

ENSEMBL: ENSMUSP00000029311 (fasta)

Gene Model

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

AlphaFold

Q9QUQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000029311
AA Change: Y706C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029311
Gene: ENSMUSG00000027748
AA Change: Y706C

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: Y706C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143593
Gene: ENSMUSG00000027748
AA Change: Y706C

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	T	3: 108,458,227		probably benign	Het
Adam24	A	T	8: 40,680,809	T439S	possibly damaging	Het
AF529169	T	A	9: 89,601,911	T478S	probably damaging	Het
Akap11	A	T	14: 78,510,292	S1552T		Het
Akap6	A	G	12: 53,069,234	E1040G	probably damaging	Het
Alms1	A	T	6: 85,629,362	T2196S	possibly damaging	Het
Alox12e	T	C	11: 70,321,756	Q89R	possibly damaging	Het
AW551984	T	A	9: 39,594,631	E423D	possibly damaging	Het
Ccpg1	T	A	9: 73,012,459	V452D	probably damaging	Het
Cdk5r1	T	C	11: 80,478,364	F286L	probably damaging	Het
Cgref1	A	T	5: 30,933,593	N292K	probably damaging	Het
Clgn	A	T	8: 83,395,545	S32C	possibly damaging	Het
Csk	C	A	9: 57,629,000		probably null	Het
Dchs2	A	G	3: 83,269,284	T850A	probably benign	Het
Defb2	T	C	8: 21,843,344	V45A	probably benign	Het
Disp2	A	G	2: 118,791,118	Q777R	probably damaging	Het
Dll1	C	T	17: 15,370,347	C369Y	probably damaging	Het
Dnah7c	A	G	1: 46,784,498	I3766V	probably benign	Het
Fam53a	A	G	5: 33,607,471	M297T	probably damaging	Het
Fat4	A	G	3: 38,981,355	D3052G	possibly damaging	Het
Fat4	A	T	3: 38,981,621	I3141F	possibly damaging	Het
Fbxw10	T	C	11: 62,850,596	V180A	probably benign	Het
Frem2	A	T	3: 53,652,579	D1502E	probably damaging	Het
Fsip2	A	T	2: 82,984,852	N3643I	possibly damaging	Het
Furin	A	G	7: 80,393,459	S335P	probably damaging	Het
Glb1l3	C	A	9: 26,818,195	A659S	possibly damaging	Het
Gm16486	A	G	8: 70,708,766	T203A	possibly damaging	Het
Gm8011	A	T	14: 42,466,784	R175*	probably null	Het
Gna15	A	G	10: 81,514,302	S89P	probably damaging	Het
Grm2	A	T	9: 106,651,169	L172Q	probably damaging	Het
Kcnc3	A	G	7: 44,595,714	D476G	possibly damaging	Het
Kcnh6	A	G	11: 106,014,561	T216A	possibly damaging	Het
Kdm2a	G	A	19: 4,333,830		probably benign	Het
Lrrc9	T	C	12: 72,506,320	I1332T	probably damaging	Het
Maea	T	C	5: 33,371,663	C317R	probably damaging	Het
Manba	T	C	3: 135,566,593	V707A	probably benign	Het
Mcph1	C	T	8: 18,631,689	R281C	probably benign	Het
Med25	A	T	7: 44,891,791	D99E	probably damaging	Het
Megf10	C	A	18: 57,189,570	D62E	probably benign	Het
Myod1	A	T	7: 46,376,673	M1L	probably benign	Het
Nav3	A	T	10: 109,823,533	M741K	possibly damaging	Het
Odf2l	A	C	3: 145,153,436	K618T	probably damaging	Het
Olfr1212	A	T	2: 88,958,775	E103V	probably benign	Het
Pcdha2	G	A	18: 36,940,089	G258R	probably damaging	Het
Pcdha3	G	A	18: 36,947,731	A509T	possibly damaging	Het
Pde4dip	A	G	3: 97,766,655	V315A	possibly damaging	Het
Prim1	T	C	10: 128,018,034	V107A	probably damaging	Het
Pxdc1	A	G	13: 34,638,163		probably null	Het
Rab7b	C	T	1: 131,711,641	H182Y	probably benign	Het
Reln	C	A	5: 21,955,181	G2130V	probably damaging	Het
Retreg1	T	A	15: 25,941,210	M1K	probably null	Het
Rras	G	A	7: 45,020,342	R94Q	probably damaging	Het
Rundc3a	T	A	11: 102,400,045	L318Q	probably benign	Het
Scgb2b18	A	T	7: 33,173,322		probably null	Het
Setd1b	A	T	5: 123,148,447	M519L	unknown	Het
Tep1	G	A	14: 50,862,491	Q426*	probably null	Het
Tesk1	G	T	4: 43,445,941	M291I	probably benign	Het
Tgs1	A	G	4: 3,595,439	D536G	probably benign	Het
Thbs1	C	T	2: 118,121,174	T825M	probably damaging	Het
Tmem59l	T	C	8: 70,485,164	N189D	possibly damaging	Het
Trim30c	A	T	7: 104,382,218	D463E	possibly damaging	Het
Ttc13	A	T	8: 124,675,103		probably null	Het
Tulp1	T	C	17: 28,363,755	K140E	probably benign	Het
Urb2	A	G	8: 124,028,588	I345V	probably benign	Het
Vmn2r43	T	C	7: 8,255,489	M242V	probably benign	Het
Zcwpw1	T	C	5: 137,819,523	V509A	probably benign	Het
Zfp202	T	C	9: 40,211,147	C402R	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGTGACTATGGCTCATTGC -3'
(R):5'- TTAAAGGCTGCCTCCACACG -3'

Sequencing Primer
(F):5'- TGCCCCCACTTTGGTGATAAAAG -3'
(R):5'- ACGCTGTCTCCGCGATGAAG -3'

Posted On

2019-10-17