Mutagenetix > Incidental Mutation

Incidental Mutation 'R7214:Trpc3'

561279

Institutional Source

Beutler Lab

Gene Symbol

Trpc3

Ensembl Gene

ENSMUSG00000027716

Gene Name

transient receptor potential cation channel, subfamily C, member 3

Synonyms

Trp3, Trcp3, Trrp3

MMRRC Submission

045286-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7214 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36674626-36744276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36704286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 557 (T557M)

Ref Sequence

ENSEMBL: ENSMUSP00000029271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029271]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029271
AA Change: T557M

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: T557M

Domain	Start	End	E-Value	Type
low complexity region	20	45	N/A	INTRINSIC
low complexity region	47	68	N/A	INTRINSIC
ANK	100	129	2.47e2	SMART
ANK	135	163	1.97e1	SMART
ANK	221	250	1.13e1	SMART
Pfam:TRP_2	256	318	3e-28	PFAM
transmembrane domain	414	433	N/A	INTRINSIC
Pfam:Ion_trans	443	744	4.4e-34	PFAM
Pfam:PKD_channel	486	739	1.4e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous knockout mice or mice heterozygoous for a point mutation in exon 7 display an abnormal gait. Abnormal nervous system electrophysiology is also described. An A1903G point mutation in exon 7 results in homozygous lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	C	T	8: 95,660,646 (GRCm39)	T95I		Het
Arap2	C	T	5: 62,906,681 (GRCm39)	V113I	probably benign	Het
Atraid	C	T	5: 31,209,590 (GRCm39)	Q85*	probably null	Het
Bcdin3d	T	C	15: 99,368,344 (GRCm39)	D285G	probably benign	Het
Bmal1	T	A	7: 112,898,610 (GRCm39)	I346K	probably benign	Het
Carmil3	T	C	14: 55,736,069 (GRCm39)	W604R	probably damaging	Het
Ccl6	C	T	11: 83,480,582 (GRCm39)		probably null	Het
Cct4	C	T	11: 22,940,616 (GRCm39)		probably benign	Het
Cd2ap	C	T	17: 43,156,285 (GRCm39)	R84Q	possibly damaging	Het
Cdt1	T	A	8: 123,295,012 (GRCm39)		probably null	Het
Cln3	C	T	7: 126,181,942 (GRCm39)	G40D	probably damaging	Het
Crlf3	T	C	11: 79,955,216 (GRCm39)	S47G	possibly damaging	Het
Csrp3	T	C	7: 48,480,385 (GRCm39)	K193R	probably benign	Het
Cxcl3	A	C	5: 90,934,219 (GRCm39)	E33A	probably damaging	Het
Cyp11b1	T	C	15: 74,708,708 (GRCm39)	D362G	probably benign	Het
Dnah2	T	C	11: 69,321,935 (GRCm39)	D3795G	probably damaging	Het
Dnah3	G	A	7: 119,521,965 (GRCm39)	A4076V	probably damaging	Het
Dnaja3	T	A	16: 4,519,046 (GRCm39)	I380N	possibly damaging	Het
Dock10	T	A	1: 80,546,246 (GRCm39)	H785L	probably benign	Het
Dop1b	T	G	16: 93,607,023 (GRCm39)	F2226V	possibly damaging	Het
Dscaml1	A	T	9: 45,581,437 (GRCm39)	I419F	probably benign	Het
Dyrk4	T	A	6: 126,862,200 (GRCm39)	I431F	probably benign	Het
Endog	C	T	2: 30,062,902 (GRCm39)	R181C	probably damaging	Het
Fam90a1a	A	T	8: 22,453,641 (GRCm39)	Y332F	probably benign	Het
Fastkd3	T	C	13: 68,737,499 (GRCm39)	I588T	probably benign	Het
Galnt9	G	A	5: 110,737,694 (GRCm39)	V217I	probably benign	Het
Gm973	A	T	1: 59,601,888 (GRCm39)	R501*	probably null	Het
Gnptab	C	T	10: 88,215,019 (GRCm39)		probably benign	Het
Gpn1	T	C	5: 31,660,761 (GRCm39)	F184S	probably damaging	Het
Imp3	G	T	9: 56,845,007 (GRCm39)	V73L	probably benign	Het
Ipo11	T	C	13: 107,032,365 (GRCm39)	D259G	probably null	Het
Jag1	T	C	2: 136,948,802 (GRCm39)	S142G	probably benign	Het
Klhl5	A	T	5: 65,289,098 (GRCm39)	E120V	probably benign	Het
Lct	C	A	1: 128,228,197 (GRCm39)	V1099L	probably benign	Het
Lrba	G	C	3: 86,235,633 (GRCm39)	W912C	probably damaging	Het
Lss	C	T	10: 76,383,305 (GRCm39)	T535I	probably damaging	Het
Mcts2	T	C	2: 152,529,297 (GRCm39)	I36T	probably benign	Het
Meikin	T	A	11: 54,302,738 (GRCm39)	N383K	probably benign	Het
Myo1g	T	C	11: 6,461,055 (GRCm39)	Y663C	probably damaging	Het
Nadk2	T	A	15: 9,108,342 (GRCm39)	M419K	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfat5	T	C	8: 108,020,515 (GRCm39)	S20P	probably damaging	Het
Nlrp1a	C	T	11: 71,014,119 (GRCm39)	C377Y	probably damaging	Het
Nlrp9a	T	C	7: 26,250,463 (GRCm39)	V76A	probably damaging	Het
Nrap	C	A	19: 56,366,567 (GRCm39)	A341S	probably benign	Het
Ntng2	T	C	2: 29,117,732 (GRCm39)	S239G	probably damaging	Het
Nup188	T	A	2: 30,197,566 (GRCm39)	C207S	possibly damaging	Het
Or10a4	T	C	7: 106,697,619 (GRCm39)	*316R	probably null	Het
Or10ak7	T	A	4: 118,791,146 (GRCm39)	I300F	possibly damaging	Het
Or1j17	T	C	2: 36,578,107 (GRCm39)	I31T	probably benign	Het
Or2ag1	T	C	7: 106,473,474 (GRCm39)		probably benign	Het
Or5b118	T	A	19: 13,448,337 (GRCm39)	M1K	probably null	Het
Or8c13	A	C	9: 38,091,318 (GRCm39)	V267G	probably damaging	Het
Or8k31-ps1	C	T	2: 86,356,150 (GRCm39)	V124I	probably damaging	Het
Pcdhgb2	C	A	18: 37,823,159 (GRCm39)	A50E	probably damaging	Het
Pgap1	A	T	1: 54,582,220 (GRCm39)	M209K	possibly damaging	Het
Plbd1	T	A	6: 136,589,829 (GRCm39)	D463V	probably damaging	Het
Plcg2	T	A	8: 118,310,288 (GRCm39)	I380N	probably damaging	Het
Pnpt1	T	C	11: 29,087,285 (GRCm39)	W184R	probably damaging	Het
Pptc7	G	A	5: 122,451,840 (GRCm39)	V202I	probably benign	Het
Prpf6	C	T	2: 181,282,389 (GRCm39)	A510V	probably damaging	Het
Prr5l	T	C	2: 101,559,777 (GRCm39)	Y235C	probably benign	Het
Ptprk	T	C	10: 28,450,905 (GRCm39)	V1022A	probably benign	Het
Rbl2	T	C	8: 91,810,057 (GRCm39)		probably null	Het
Rmnd1	T	C	10: 4,360,753 (GRCm39)	K348E	probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,429,241 (GRCm39)	N433K	probably benign	Het
Scyl1	T	C	19: 5,810,057 (GRCm39)	T590A	probably benign	Het
Sdhd	A	G	9: 50,508,533 (GRCm39)	V111A	possibly damaging	Het
Sec24b	G	T	3: 129,827,509 (GRCm39)	P330Q	probably benign	Het
Serpinb6d	C	T	13: 33,848,128 (GRCm39)	P31S	probably damaging	Het
Slc26a9	A	T	1: 131,687,211 (GRCm39)	R457W	probably damaging	Het
Slc5a8	G	A	10: 88,755,364 (GRCm39)	M490I	probably benign	Het
Slx4	A	G	16: 3,806,844 (GRCm39)	I533T	probably benign	Het
Slx4ip	T	A	2: 136,888,650 (GRCm39)	F110L	probably benign	Het
Smchd1	T	C	17: 71,652,359 (GRCm39)	R2000G	probably benign	Het
Snx8	T	C	5: 140,346,008 (GRCm39)	E75G	possibly damaging	Het
Stab2	C	A	10: 86,735,705 (GRCm39)	C1292F	probably damaging	Het
Swt1	A	T	1: 151,270,364 (GRCm39)	M617K	possibly damaging	Het
Thoc2l	A	G	5: 104,670,229 (GRCm39)	T1584A	probably benign	Het
Tiam2	T	A	17: 3,568,687 (GRCm39)	I1611N	possibly damaging	Het
Tmem63b	T	G	17: 45,972,748 (GRCm39)	N682T	probably benign	Het
Trio	C	T	15: 27,871,273 (GRCm39)	V674M	probably damaging	Het
Vac14	T	G	8: 111,397,674 (GRCm39)	L463R	probably damaging	Het
Vmn2r43	C	T	7: 8,256,379 (GRCm39)		probably null	Het
Wdr49	A	T	3: 75,265,751 (GRCm39)	Y232N	possibly damaging	Het
Wdr90	T	C	17: 26,064,367 (GRCm39)	M1835V	probably benign	Het
Xpc	T	C	6: 91,469,320 (GRCm39)	E809G	probably damaging	Het
Zfhx3	A	T	8: 109,675,493 (GRCm39)	Q2181L	probably damaging	Het
Zfp442	T	C	2: 150,251,201 (GRCm39)	T234A	probably benign	Het
Zfp764	A	T	7: 127,004,450 (GRCm39)	M227K	probably benign	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zfp957	A	G	14: 79,450,750 (GRCm39)	S350P	unknown	Het
Zscan29	T	A	2: 120,999,761 (GRCm39)	K147*	probably null	Het

Other mutations in Trpc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Trpc3	APN	3	36,694,788 (GRCm39)	missense	possibly damaging	0.95
IGL01701:Trpc3	APN	3	36,725,743 (GRCm39)	missense	possibly damaging	0.92
IGL02254:Trpc3	APN	3	36,705,669 (GRCm39)	missense	probably null	0.98
IGL02723:Trpc3	APN	3	36,704,377 (GRCm39)	missense	probably benign	0.02
IGL02816:Trpc3	APN	3	36,705,851 (GRCm39)	missense	probably damaging	1.00
IGL02867:Trpc3	APN	3	36,694,850 (GRCm39)	missense	probably benign	0.10
IGL02929:Trpc3	APN	3	36,692,623 (GRCm39)	nonsense	probably null
IGL03076:Trpc3	APN	3	36,694,804 (GRCm39)	missense	probably damaging	1.00
R0032:Trpc3	UTSW	3	36,698,405 (GRCm39)	missense	probably damaging	1.00
R0032:Trpc3	UTSW	3	36,698,405 (GRCm39)	missense	probably damaging	1.00
R0115:Trpc3	UTSW	3	36,678,566 (GRCm39)	missense	probably benign	0.05
R0481:Trpc3	UTSW	3	36,678,566 (GRCm39)	missense	probably benign	0.05
R0645:Trpc3	UTSW	3	36,725,654 (GRCm39)	missense	probably benign	0.00
R0694:Trpc3	UTSW	3	36,725,704 (GRCm39)	missense	possibly damaging	0.48
R1190:Trpc3	UTSW	3	36,725,497 (GRCm39)	missense	probably benign	0.00
R1635:Trpc3	UTSW	3	36,694,776 (GRCm39)	missense	probably damaging	1.00
R1828:Trpc3	UTSW	3	36,692,695 (GRCm39)	missense	possibly damaging	0.95
R2204:Trpc3	UTSW	3	36,704,298 (GRCm39)	missense	possibly damaging	0.79
R2937:Trpc3	UTSW	3	36,688,532 (GRCm39)	nonsense	probably null
R3732:Trpc3	UTSW	3	36,692,708 (GRCm39)	missense	probably benign
R3732:Trpc3	UTSW	3	36,692,708 (GRCm39)	missense	probably benign
R3733:Trpc3	UTSW	3	36,692,708 (GRCm39)	missense	probably benign
R4063:Trpc3	UTSW	3	36,725,172 (GRCm39)	missense	probably damaging	1.00
R4270:Trpc3	UTSW	3	36,717,074 (GRCm39)	nonsense	probably null
R4807:Trpc3	UTSW	3	36,688,531 (GRCm39)	missense	probably benign	0.00
R4996:Trpc3	UTSW	3	36,716,967 (GRCm39)	missense	probably benign	0.00
R5098:Trpc3	UTSW	3	36,717,047 (GRCm39)	missense	probably benign	0.07
R5139:Trpc3	UTSW	3	36,725,706 (GRCm39)	missense	possibly damaging	0.46
R5251:Trpc3	UTSW	3	36,725,103 (GRCm39)	missense	probably damaging	1.00
R5337:Trpc3	UTSW	3	36,692,519 (GRCm39)	intron	probably benign
R5891:Trpc3	UTSW	3	36,725,171 (GRCm39)	missense	probably damaging	1.00
R6512:Trpc3	UTSW	3	36,716,907 (GRCm39)	missense	possibly damaging	0.59
R6618:Trpc3	UTSW	3	36,694,844 (GRCm39)	missense	possibly damaging	0.82
R6750:Trpc3	UTSW	3	36,678,542 (GRCm39)	missense	probably damaging	1.00
R6950:Trpc3	UTSW	3	36,692,739 (GRCm39)	missense	probably damaging	1.00
R6986:Trpc3	UTSW	3	36,709,165 (GRCm39)	critical splice donor site	probably null
R7031:Trpc3	UTSW	3	36,675,459 (GRCm39)	missense	probably benign
R7100:Trpc3	UTSW	3	36,704,216 (GRCm39)	missense	probably benign	0.00
R7182:Trpc3	UTSW	3	36,709,258 (GRCm39)	missense	probably benign	0.02
R7211:Trpc3	UTSW	3	36,694,882 (GRCm39)	missense	possibly damaging	0.81
R7284:Trpc3	UTSW	3	36,678,562 (GRCm39)	missense	probably damaging	0.98
R7468:Trpc3	UTSW	3	36,678,565 (GRCm39)	missense	probably damaging	0.99
R7652:Trpc3	UTSW	3	36,692,677 (GRCm39)	missense	probably benign	0.06
R7815:Trpc3	UTSW	3	36,709,294 (GRCm39)	missense	probably benign	0.28
R7833:Trpc3	UTSW	3	36,694,821 (GRCm39)	missense	probably damaging	0.96
R7977:Trpc3	UTSW	3	36,698,318 (GRCm39)	missense	probably benign	0.13
R7987:Trpc3	UTSW	3	36,698,318 (GRCm39)	missense	probably benign	0.13
R8778:Trpc3	UTSW	3	36,725,070 (GRCm39)	missense	probably damaging	0.99
R8959:Trpc3	UTSW	3	36,709,258 (GRCm39)	missense	probably benign	0.02
R9072:Trpc3	UTSW	3	36,694,831 (GRCm39)	missense	probably benign	0.01
R9175:Trpc3	UTSW	3	36,709,279 (GRCm39)	missense	probably benign	0.15
R9401:Trpc3	UTSW	3	36,675,503 (GRCm39)	nonsense	probably null
R9429:Trpc3	UTSW	3	36,705,777 (GRCm39)	missense	probably benign	0.01
R9563:Trpc3	UTSW	3	36,705,683 (GRCm39)	missense	probably benign	0.03
R9571:Trpc3	UTSW	3	36,694,909 (GRCm39)	missense	probably damaging	1.00
R9711:Trpc3	UTSW	3	36,692,713 (GRCm39)	missense	possibly damaging	0.81
Z1177:Trpc3	UTSW	3	36,675,428 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGAGAGTCCGTCTTAATAGGC -3'
(R):5'- TTGCTGGGGTTACACCTTTC -3'

Sequencing Primer
(F):5'- AATAGGCGTTGCTTTCCAAGATGC -3'
(R):5'- TTTCCCAGGTGGACCAGGTATC -3'

Posted On

2019-06-26