Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02254:Trpc3'

286548

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trpc3

Ensembl Gene

ENSMUSG00000027716

Gene Name

transient receptor potential cation channel, subfamily C, member 3

Synonyms

Trp3, Trcp3, Trrp3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02254

Quality Score

Status

Chromosome

Chromosomal Location

36674626-36744276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36705669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 509 (G509R)

Ref Sequence

ENSEMBL: ENSMUSP00000029271 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000029271
AA Change: G509R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: G509R

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

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agk	T	C	6: 40,358,180 (GRCm39)	W211R	probably damaging	Het
Cacna1b	T	C	2: 24,506,827 (GRCm39)		probably null	Het
Calcrl	A	G	2: 84,178,552 (GRCm39)	W259R	probably damaging	Het
Cenpe	T	A	3: 134,961,238 (GRCm39)	C1911S	probably benign	Het
Cfhr4	A	G	1: 139,661,143 (GRCm39)		probably benign	Het
Csad	C	A	15: 102,094,872 (GRCm39)	G63*	probably null	Het
H2bc8	G	T	13: 23,755,609 (GRCm39)	M1I	probably null	Het
Hc	G	A	2: 34,874,836 (GRCm39)	A115V	probably damaging	Het
Hepacam2	T	A	6: 3,483,421 (GRCm39)	H196L	probably benign	Het
Kcnh6	G	A	11: 105,911,533 (GRCm39)	E640K	probably damaging	Het
Mrgprx2	G	A	7: 48,132,686 (GRCm39)	T10I	probably benign	Het
Myo15b	T	C	11: 115,777,109 (GRCm39)	Y912H	probably damaging	Het
Plin4	G	T	17: 56,411,733 (GRCm39)	T766K	probably damaging	Het
Ric8b	A	G	10: 84,816,000 (GRCm39)	D417G	probably damaging	Het
Rnf213	A	C	11: 119,371,733 (GRCm39)	Q4846P	possibly damaging	Het
Slc15a2	T	C	16: 36,580,449 (GRCm39)	Q320R	possibly damaging	Het
Slc35f3	A	G	8: 127,115,862 (GRCm39)	E263G	probably damaging	Het
Slc5a4b	A	T	10: 75,896,264 (GRCm39)	W564R	probably benign	Het
Taf4	C	T	2: 179,562,977 (GRCm39)	V965M	probably benign	Het
Ttn	T	C	2: 76,708,309 (GRCm39)		probably benign	Het
Znfx1	G	T	2: 166,897,643 (GRCm39)	T427N	probably damaging	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
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
R7214:Trpc3	UTSW	3	36,704,286 (GRCm39)	missense	possibly damaging	0.94
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

Posted On

2015-04-16