Mutagenetix > Incidental Mutation

Incidental Mutation 'R3732:Trpc3'

500774

Institutional Source

Beutler Lab

Gene Symbol

Trpc3

Ensembl Gene

ENSMUSG00000027716

Gene Name

transient receptor potential cation channel, subfamily C, member 3

Synonyms

Trp3, Trrp3, Trcp3

MMRRC Submission

040720-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36620482-36690167 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36638559 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 761 (D761E)

Ref Sequence

ENSEMBL: ENSMUSP00000029271 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029271
AA Change: D761E

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

SMART Domains

Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: D761E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133542

Meta Mutation Damage Score

0.1137

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

93% (56/60)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	T	11: 101,988,452	Q17*	probably null	Het
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Aacs	C	T	5: 125,506,262	T294M	probably damaging	Het
Ablim1	A	T	19: 57,049,460		probably null	Het
Adgrf4	C	T	17: 42,672,581	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,794,946	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,556,956	I1578M	probably damaging	Het
Afg3l1	G	A	8: 123,501,233	G547D	probably damaging	Het
Ambra1	G	A	2: 91,810,131	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,850,226		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,581,619		probably benign	Het
Bcl7b	A	G	5: 135,180,913	T141A	probably benign	Het
Calm5	T	A	13: 3,854,337	N10K	probably damaging	Het
Camsap1	T	C	2: 25,938,344	R1123G	probably damaging	Het
Chrna3	T	C	9: 55,015,894	K210R	probably benign	Het
Ciz1	A	G	2: 32,367,483	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,740,999	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,693,260	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,987,308	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,312,827	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,803,954	R424Q	probably null	Het
D1Pas1	C	A	1: 186,968,097	S74R	probably benign	Het
Ddx4	T	A	13: 112,611,982	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,122	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,269,507	D330G	possibly damaging	Het
Edem1	T	C	6: 108,841,621	F197L	probably damaging	Het
Ergic2	T	C	6: 148,202,522	D79G	probably damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam102a	G	A	2: 32,566,292	S322N	probably benign	Het
Fam111a	T	C	19: 12,587,550	L221P	possibly damaging	Het
Fat1	T	C	8: 44,953,269	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,527,017	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,925,707	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,338,662	K499R	possibly damaging	Het
Gm5514	T	G	19: 21,938,252		noncoding transcript	Het
Gria4	C	T	9: 4,513,295	M271I	probably benign	Het
Herc1	C	T	9: 66,445,640	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,325,714	F1866S	probably benign	Het
Iqcg	G	T	16: 33,053,626		probably benign	Het
Itih2	A	T	2: 10,105,670	F537I	probably benign	Het
Itpr2	T	C	6: 146,382,700	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,853,813	K22E	probably benign	Het
Lag3	A	T	6: 124,910,140	S155T	probably benign	Het
Lars	T	C	18: 42,212,602	E1003G	probably benign	Het
Layn	T	A	9: 51,059,544	N233I	probably damaging	Het
Lgi1	T	C	19: 38,306,246	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,611,576	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 80,019,655		probably benign	Het
Lsamp	T	A	16: 42,144,572	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,313,475	E39G	probably damaging	Het
Mtx2	C	A	2: 74,847,262	A22E	probably damaging	Het
Nipal3	T	C	4: 135,463,846	T325A	probably damaging	Het
Nlrp14	A	T	7: 107,182,367	Y257F	probably benign	Het
Ola1	G	C	2: 73,156,860	R143G	probably damaging	Het
Olfr301	T	G	7: 86,412,633	I90M	probably damaging	Het
Otog	A	G	7: 46,288,368	T1834A	probably benign	Het
Oxr1	T	C	15: 41,848,701	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 15,006,171		probably benign	Het
Pcdh18	T	C	3: 49,754,791	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,664,123	T727A	probably benign	Het
Pde9a	A	G	17: 31,448,427	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,579,733	E37G	probably damaging	Het
Rlf	C	T	4: 121,148,324	G1153D	probably benign	Het
Robo2	A	C	16: 73,920,747	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,299,276		probably benign	Het
Siah2	A	G	3: 58,676,250	V205A	probably damaging	Het
Spindoc	A	C	19: 7,374,301	L202R	probably damaging	Het
Spock3	T	A	8: 63,345,699	D251E	probably damaging	Het
Srp68	T	A	11: 116,273,956	K51*	probably null	Het
Ssbp2	T	C	13: 91,524,607	Y29H	probably damaging	Het
Sspo	T	C	6: 48,449,930	V231A	probably damaging	Het
Stk4	T	A	2: 164,088,908	M143K	probably benign	Het
Tecta	C	T	9: 42,392,106	V77M	possibly damaging	Het
Tubb2a	T	C	13: 34,075,264	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	A	1: 188,944,760	N4756K	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Wapl	G	A	14: 34,736,764	V928I	probably damaging	Het
Zfand3	A	G	17: 30,192,656	K130R	probably benign	Het
Zfp934	A	T	13: 62,517,785	H347Q	probably damaging	Het

Other mutations in Trpc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Trpc3	APN	3	36640639	missense	possibly damaging	0.95
IGL01701:Trpc3	APN	3	36671594	missense	possibly damaging	0.92
IGL02254:Trpc3	APN	3	36651520	missense	probably null	0.98
IGL02723:Trpc3	APN	3	36650228	missense	probably benign	0.02
IGL02816:Trpc3	APN	3	36651702	missense	probably damaging	1.00
IGL02867:Trpc3	APN	3	36640701	missense	probably benign	0.10
IGL02929:Trpc3	APN	3	36638474	nonsense	probably null
IGL03076:Trpc3	APN	3	36640655	missense	probably damaging	1.00
R0032:Trpc3	UTSW	3	36644256	missense	probably damaging	1.00
R0032:Trpc3	UTSW	3	36644256	missense	probably damaging	1.00
R0115:Trpc3	UTSW	3	36624417	missense	probably benign	0.05
R0481:Trpc3	UTSW	3	36624417	missense	probably benign	0.05
R0645:Trpc3	UTSW	3	36671505	missense	probably benign	0.00
R0694:Trpc3	UTSW	3	36671555	missense	possibly damaging	0.48
R1190:Trpc3	UTSW	3	36671348	missense	probably benign	0.00
R1635:Trpc3	UTSW	3	36640627	missense	probably damaging	1.00
R1828:Trpc3	UTSW	3	36638546	missense	possibly damaging	0.95
R2204:Trpc3	UTSW	3	36650149	missense	possibly damaging	0.79
R2937:Trpc3	UTSW	3	36634383	nonsense	probably null
R3732:Trpc3	UTSW	3	36638559	missense	probably benign
R3733:Trpc3	UTSW	3	36638559	missense	probably benign
R4063:Trpc3	UTSW	3	36671023	missense	probably damaging	1.00
R4270:Trpc3	UTSW	3	36662925	nonsense	probably null
R4807:Trpc3	UTSW	3	36634382	missense	probably benign	0.00
R4996:Trpc3	UTSW	3	36662818	missense	probably benign	0.00
R5098:Trpc3	UTSW	3	36662898	missense	probably benign	0.07
R5139:Trpc3	UTSW	3	36671557	missense	possibly damaging	0.46
R5251:Trpc3	UTSW	3	36670954	missense	probably damaging	1.00
R5337:Trpc3	UTSW	3	36638370	intron	probably benign
R5891:Trpc3	UTSW	3	36671022	missense	probably damaging	1.00
R6512:Trpc3	UTSW	3	36662758	missense	possibly damaging	0.59
R6618:Trpc3	UTSW	3	36640695	missense	possibly damaging	0.82
R6750:Trpc3	UTSW	3	36624393	missense	probably damaging	1.00
R6950:Trpc3	UTSW	3	36638590	missense	probably damaging	1.00
R6986:Trpc3	UTSW	3	36655016	critical splice donor site	probably null
R7031:Trpc3	UTSW	3	36621310	missense	probably benign
R7100:Trpc3	UTSW	3	36650067	missense	probably benign	0.00
R7182:Trpc3	UTSW	3	36655109	missense	probably benign	0.02
R7211:Trpc3	UTSW	3	36640733	missense	possibly damaging	0.81
R7214:Trpc3	UTSW	3	36650137	missense	possibly damaging	0.94
R7284:Trpc3	UTSW	3	36624413	missense	probably damaging	0.98
R7468:Trpc3	UTSW	3	36624416	missense	probably damaging	0.99
R7652:Trpc3	UTSW	3	36638528	missense	probably benign	0.06
R7815:Trpc3	UTSW	3	36655145	missense	probably benign	0.28
R7833:Trpc3	UTSW	3	36640672	missense	probably damaging	0.96
R7977:Trpc3	UTSW	3	36644169	missense	probably benign	0.13
R7987:Trpc3	UTSW	3	36644169	missense	probably benign	0.13
R8778:Trpc3	UTSW	3	36670921	missense	probably damaging	0.99
R8959:Trpc3	UTSW	3	36655109	missense	probably benign	0.02
R9072:Trpc3	UTSW	3	36640682	missense	probably benign	0.01
R9175:Trpc3	UTSW	3	36655130	missense	probably benign	0.15
R9401:Trpc3	UTSW	3	36621354	nonsense	probably null
R9429:Trpc3	UTSW	3	36651628	missense	probably benign	0.01
R9563:Trpc3	UTSW	3	36651534	missense	probably benign	0.03
R9571:Trpc3	UTSW	3	36640760	missense	probably damaging	1.00
R9711:Trpc3	UTSW	3	36638564	missense	possibly damaging	0.81
Z1177:Trpc3	UTSW	3	36621279	missense	probably benign	0.00

Predicted Primers

Posted On

2017-12-01