Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Trpc3'

550749

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36620482-36690167 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36650067 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 580 (E580D)

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: E580D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: E580D

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: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,552,395	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,270,897	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,537,074		probably null	Het
Amph	T	C	13: 19,149,841	*691Q	probably null	Het
Ankrd55	A	G	13: 112,356,110	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,516,815	V838I	possibly damaging	Het
Arl2	C	A	19: 6,134,744	V160F	probably benign	Het
BC067074	T	A	13: 113,318,967	F516I		Het
Catsperb	T	C	12: 101,446,038	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,625,593	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,596,114	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 132,054,815	A573T	probably benign	Het
Daxx	T	C	17: 33,911,442	S144P	probably damaging	Het
Dpp3	T	C	19: 4,918,041	D303G	probably damaging	Het
Fam126b	T	A	1: 58,534,494	T384S	possibly damaging	Het
Fam181a	T	A	12: 103,315,873	N12K	probably damaging	Het
Flg2	A	T	3: 93,203,711	R1015S	unknown	Het
Fstl5	A	G	3: 76,536,293	H315R	probably benign	Het
Fut4	A	G	9: 14,751,393	S202P	probably damaging	Het
Gm5114	T	C	7: 39,408,284	D637G	possibly damaging	Het
Gstcd	G	T	3: 133,084,943	T21K	probably benign	Het
Heca	C	T	10: 17,915,373	V312M	probably benign	Het
Herpud1	A	G	8: 94,390,847	R144G	probably damaging	Het
Hrasls5	T	A	19: 7,639,558	F313I	unknown	Het
Ino80	A	G	2: 119,374,513	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 126,591,733	T365A	probably benign	Het
Klk1	G	A	7: 44,229,424	G214E	probably damaging	Het
Lama3	A	T	18: 12,582,644	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,484,990	I365T	probably damaging	Het
Lrp8	C	A	4: 107,802,450	A13E	possibly damaging	Het
Ly75	A	G	2: 60,306,434	L1483P	probably benign	Het
Mid1	A	G	X: 169,985,077	D407G	probably benign	Het
Mpl	G	T	4: 118,457,410	A21E		Het
Mus81	C	T	19: 5,484,211	G360S	probably damaging	Het
Nmt2	T	A	2: 3,312,913	S250T	probably benign	Het
Nr1d1	C	A	11: 98,771,334	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,050,714	P36S	unknown	Het
Pcnx2	G	A	8: 125,759,114	A1915V	probably benign	Het
Peak1	A	G	9: 56,259,393	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,604,840	N262S	probably benign	Het
Ppp2r5d	A	G	17: 46,685,682	V355A	probably benign	Het
Rasa3	T	C	8: 13,586,897	T395A	probably benign	Het
Rims1	T	A	1: 22,346,473	I432F	probably benign	Het
Rnf123	C	T	9: 108,056,639	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,238,311		probably benign	Het
Shank2	T	A	7: 144,411,164	D836E	possibly damaging	Het
Slc24a5	A	C	2: 125,080,671	S118R	probably damaging	Het
Smg1	G	T	7: 118,184,520	H1048N	unknown	Het
Specc1l	T	G	10: 75,245,495	S242A	probably benign	Het
Tagap1	A	T	17: 6,956,712	L195Q	possibly damaging	Het
Tmem57	T	C	4: 134,806,660	D550G	probably damaging	Het
Ttn	A	T	2: 76,710,822	V33940E	probably benign	Het
Upp2	G	T	2: 58,791,805	R318L	probably benign	Het
Vezt	T	A	10: 93,996,933	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,866,110	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,581,586	E769*	probably null	Het
Vnn3	T	C	10: 23,865,942	Y382H	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
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
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

PCR Primer
(F):5'- GAAAGATCACAGAGTTTGTAGGGTTTG -3'
(R):5'- TCTGAGTGCAAGGAGCTGTG -3'

Sequencing Primer
(F):5'- GATTCTATCCGTGGTTTCAGGAATC -3'
(R):5'- GCTGTGGCTGGAGGGGC -3'

Posted On

2019-05-15