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, STRPC4, Trp4, CCE1

MMRRC Submission

042615-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R5024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54156035-54318471 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54194796 bp (GRCm38)

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: 129,171,895	N575S	probably damaging	Het
Akap6	C	T	12: 53,142,562	T2253M	probably benign	Het
Arhgef37	A	C	18: 61,506,440	N289K	probably damaging	Het
Armc4	T	C	18: 7,088,555	M1005V	probably benign	Het
Atad2b	A	C	12: 4,937,534	T121P	probably benign	Het
Atp4a	A	C	7: 30,715,864	D303A	possibly damaging	Het
BC005561	A	G	5: 104,522,258	K1549E	possibly damaging	Het
Calu	A	T	6: 29,374,519		probably benign	Het
Ccdc141	A	C	2: 77,054,703	N531K	probably benign	Het
Ccdc146	T	C	5: 21,399,614		probably null	Het
Cd207	G	A	6: 83,674,319	T218I	probably damaging	Het
Cd2ap	A	C	17: 42,805,345		probably null	Het
Clip3	G	A	7: 30,292,219		probably benign	Het
Clstn1	G	A	4: 149,635,294	R432H	possibly damaging	Het
Csmd2	A	G	4: 128,321,348	Y521C	possibly damaging	Het
Dnah8	A	T	17: 30,736,096	E2033V	probably damaging	Het
Eng	T	G	2: 32,673,392	V319G	probably benign	Het
Erp44	C	T	4: 48,241,296	W57*	probably null	Het
Etv1	T	A	12: 38,854,234		probably null	Het
Eva1c	T	C	16: 90,876,193		probably null	Het
Fam196a	A	G	7: 134,918,478	S108P	probably damaging	Het
Fam221b	T	A	4: 43,659,674	N482I	probably damaging	Het
Fam83h	T	C	15: 76,005,142	H202R	probably damaging	Het
Fbxw13	T	C	9: 109,179,335	T449A	probably benign	Het
Fbxw25	A	T	9: 109,663,374		probably null	Het
Frmd3	T	A	4: 74,098,144	S99T	probably benign	Het
Gm5155	A	G	7: 17,910,682	I575V	probably benign	Het
Gm5174	G	T	10: 86,656,587		noncoding transcript	Het
Gm6904	T	C	14: 59,258,483		probably null	Het
Gm815	C	T	19: 26,887,775	Q49*	probably null	Het
H2-DMa	A	T	17: 34,138,487	I245F	possibly damaging	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Hirip3	A	G	7: 126,864,489		probably null	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Hmcn1	T	A	1: 150,680,688	E2449V	possibly damaging	Het
Igll1	G	T	16: 16,863,793	H33N	probably benign	Het
Il6	T	C	5: 30,019,514	L184P	probably damaging	Het
Impg2	T	A	16: 56,260,100	S756T	probably damaging	Het
Kank4	T	G	4: 98,785,661	D5A	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kcns2	A	T	15: 34,839,537	T349S	probably benign	Het
Keap1	A	G	9: 21,237,226	Y162H	probably damaging	Het
Kif9	T	C	9: 110,483,093	F10L	possibly damaging	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,448,985		probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lpar6	A	G	14: 73,239,369	T257A	probably damaging	Het
Lpin1	A	T	12: 16,554,006	L608Q	probably benign	Het
Lyst	T	C	13: 13,634,404	S220P	probably benign	Het
M1ap	A	G	6: 83,028,358		probably benign	Het
Mbd6	C	T	10: 127,286,441	V173I	probably benign	Het
Myo5b	A	T	18: 74,716,034	T1115S	possibly damaging	Het
Mysm1	C	A	4: 94,951,016	V683F	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,155		noncoding transcript	Het
Olfr1040	G	T	2: 86,146,533	A67E	probably damaging	Het
Olfr1062	C	T	2: 86,423,461	G72S	possibly damaging	Het
Olfr292	A	T	7: 86,694,881	M142L	probably benign	Het
Olfr318	T	A	11: 58,720,950	I33F	probably benign	Het
Otud6b	T	A	4: 14,826,293	Q34L	probably damaging	Het
Parp11	C	T	6: 127,471,636	T72I	probably damaging	Het
Pbx1	T	A	1: 168,183,589	D343V	possibly damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Pramef20	C	A	4: 144,373,308	E296*	probably null	Het
Ranbp9	A	T	13: 43,434,855	I67N	probably damaging	Het
Rasgrp4	A	G	7: 29,148,407	E414G	probably damaging	Het
Rbbp5	A	G	1: 132,490,488	H15R	possibly damaging	Het
Scd2	A	G	19: 44,301,271	Y235C	probably benign	Het
Sdr16c5	C	T	4: 4,010,365	G170S	probably damaging	Het
Sh3bp4	G	T	1: 89,145,595	G722C	probably damaging	Het
Shmt1	A	T	11: 60,797,479		probably benign	Het
Slc12a1	A	G	2: 125,166,137	I206V	probably benign	Het
Slc26a3	A	G	12: 31,453,908	D304G	probably benign	Het
Slc26a7	T	A	4: 14,532,572	D434V	possibly damaging	Het
Slc6a16	G	T	7: 45,259,966	M185I	probably benign	Het
Stat4	A	G	1: 52,082,570	I363V	possibly damaging	Het
Tgfb1i1	G	T	7: 128,248,217	M1I	probably null	Het
Tmem225	T	C	9: 40,149,343	V66A	probably benign	Het
Tmtc4	T	C	14: 122,941,302		probably null	Het
Ttll12	A	T	15: 83,587,113	Y218N	probably damaging	Het
Ttn	A	T	2: 76,948,425		probably null	Het
Tulp1	A	C	17: 28,351,995	Y178*	probably null	Het
Vmn2r58	A	G	7: 41,864,322	V299A	probably damaging	Het
Washc4	C	A	10: 83,583,336	Q911K	possibly damaging	Het
Wdr3	T	C	3: 100,154,936	D221G	probably benign	Het
Zan	A	T	5: 137,461,893	C1245*	probably null	Het
Zfyve9	A	C	4: 108,691,669	S773A	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
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

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