Mutagenetix > Incidental Mutations

Incidental Mutation 'R0645:Trpc3'

57041

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

038830-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0645 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

36620482-36690167 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36671505 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 107 (D107E)

Ref Sequence

ENSEMBL: ENSMUSP00000029271 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029271
AA Change: D107E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: D107E

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: ENSMUST00000146475

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (94/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	C	T	2: 111,214,583		probably null	Het
Adam18	G	T	8: 24,672,120	Y46*	probably null	Het
Adam26b	A	C	8: 43,520,487	C493G	probably damaging	Het
Ak5	A	T	3: 152,653,615	L182Q	probably damaging	Het
Akt1s1	T	C	7: 44,849,221		probably benign	Het
Amhr2	G	T	15: 102,446,428	G133C	probably damaging	Het
Btbd9	A	T	17: 30,524,967	L187Q	probably damaging	Het
Ccdc117	A	T	11: 5,534,385		probably benign	Het
Ccdc138	A	T	10: 58,575,720	I637F	probably damaging	Het
Ccdc162	A	G	10: 41,586,411		probably benign	Het
Cdc25b	C	A	2: 131,191,613	H157Q	probably benign	Het
Cdon	A	G	9: 35,477,083		probably null	Het
Cdt1	G	A	8: 122,572,145		probably benign	Het
Cep350	C	T	1: 155,940,712		probably null	Het
Cfb	T	C	17: 34,860,016	K831R	probably benign	Het
Cldn4	C	A	5: 134,946,791		probably benign	Het
Cntnap5b	T	C	1: 100,072,042		probably benign	Het
Cyp27b1	T	G	10: 127,049,098	S77A	probably benign	Het
Dlc1	T	C	8: 36,574,049	D1342G	possibly damaging	Het
Dlgap4	A	G	2: 156,761,879	H887R	probably damaging	Het
Duox2	A	G	2: 122,292,658	I503T	probably damaging	Het
Elmsan1	G	T	12: 84,158,303	N834K	possibly damaging	Het
Eml4	T	C	17: 83,463,493		probably benign	Het
Ermap	A	G	4: 119,185,691	S212P	probably benign	Het
Esrrg	T	A	1: 188,043,341	C22S	probably benign	Het
Evx2	T	A	2: 74,657,894	Y194F	possibly damaging	Het
Fam126a	C	T	5: 23,979,508	G242D	probably damaging	Het
Fbn2	T	G	18: 58,058,389	D1554A	probably damaging	Het
Flrt1	G	A	19: 7,097,143		probably benign	Het
Fndc5	A	G	4: 129,139,837		probably benign	Het
Frem1	A	T	4: 82,989,166	I837N	probably damaging	Het
Fzd10	G	T	5: 128,602,598	A461S	possibly damaging	Het
Ganab	T	A	19: 8,911,113	Y511N	probably damaging	Het
Gbp7	A	G	3: 142,538,165		probably null	Het
Gm10639	T	C	9: 78,299,021	I75T	possibly damaging	Het
Gm5919	T	A	9: 83,883,383	C91S	unknown	Het
Gm597	T	A	1: 28,776,930	N674Y	probably damaging	Het
Gpr31b	A	T	17: 13,052,206	C25*	probably null	Het
Grb10	A	G	11: 11,936,755	S505P	probably damaging	Het
Grm4	A	T	17: 27,435,209	V542E	probably damaging	Het
Hivep3	G	A	4: 120,097,334	R949H	possibly damaging	Het
Invs	A	T	4: 48,407,653	M543L	probably benign	Het
Kcnk2	T	C	1: 189,256,730		probably null	Het
Kdm6b	A	T	11: 69,405,018	S808T	unknown	Het
Klhl30	C	T	1: 91,355,506	R277W	probably damaging	Het
Lama1	A	G	17: 67,773,712	Q1245R	probably benign	Het
Lingo3	G	T	10: 80,835,335	H254N	probably benign	Het
Lzts1	A	T	8: 69,135,740	H521Q	possibly damaging	Het
Map3k19	A	C	1: 127,822,182	I1144S	possibly damaging	Het
Mast2	A	G	4: 116,307,987	S1411P	probably damaging	Het
Mast2	T	C	4: 116,312,846		probably benign	Het
Mesp1	G	T	7: 79,792,580	S225R	possibly damaging	Het
Micu1	A	G	10: 59,839,681	T366A	possibly damaging	Het
Mknk2	T	C	10: 80,671,908		probably null	Het
Msh5	A	G	17: 35,039,223	L309P	probably damaging	Het
Myo7b	T	C	18: 31,994,909	I577V	probably benign	Het
Myom2	T	A	8: 15,117,698	D1094E	probably damaging	Het
Nedd1	T	C	10: 92,691,831		probably null	Het
Neu4	T	C	1: 94,022,469	L50S	probably damaging	Het
Noa1	T	C	5: 77,309,875	Y61C	probably benign	Het
Nr1h4	A	T	10: 89,506,528	M30K	probably benign	Het
Nsd3	A	G	8: 25,709,069	I1219V	probably benign	Het
Nup188	T	A	2: 30,343,466		probably null	Het
Olfr1039	A	G	2: 86,131,034	S210P	probably damaging	Het
Olfr1123	T	A	2: 87,418,268	Y71*	probably null	Het
Olfr420	A	T	1: 174,159,354	T194S	probably benign	Het
Olfr784	T	A	10: 129,388,293	I220N	possibly damaging	Het
Pbk	G	A	14: 65,813,796		probably benign	Het
Pcnx2	G	A	8: 125,760,720	T1848M	possibly damaging	Het
Pdzd7	C	T	19: 45,045,475	G57R	possibly damaging	Het
Pik3r4	C	A	9: 105,669,187		probably benign	Het
Plce1	A	G	19: 38,777,989	S2153G	probably damaging	Het
Pphln1	G	A	15: 93,420,311	V34M	possibly damaging	Het
Prrc2a	T	C	17: 35,156,332	D1114G	probably damaging	Het
Prss16	T	C	13: 22,009,376		probably benign	Het
Rtp3	T	C	9: 110,987,100	K128E	probably damaging	Het
Scn3a	T	A	2: 65,524,850	I241F	possibly damaging	Het
Setd1a	G	A	7: 127,787,210	V336I	probably damaging	Het
Sfpq	A	G	4: 127,022,969	I320V	possibly damaging	Het
Skint5	A	T	4: 113,763,482	D678E	unknown	Het
Slc12a9	G	A	5: 137,315,376	P774S	probably benign	Het
Slc25a54	C	G	3: 109,112,165	L362V	possibly damaging	Het
Smarcd1	A	G	15: 99,707,386		probably null	Het
Suco	A	T	1: 161,834,114	M916K	probably damaging	Het
Tiam2	T	C	17: 3,514,698	S1404P	possibly damaging	Het
Topors	T	C	4: 40,260,333	T984A	unknown	Het
Trabd2b	A	T	4: 114,586,570	K308M	probably damaging	Het
Trmo	A	T	4: 46,377,083		probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Uggt2	A	C	14: 119,057,598	Y539D	probably benign	Het
Wwc2	T	G	8: 47,900,639		probably benign	Het
Zdbf2	T	A	1: 63,304,950	D829E	possibly 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
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
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
Z1177:Trpc3	UTSW	3	36621279	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCATCCTCGTCGTAAGCATAGAAG -3'
(R):5'- AAGCCCCACGTTGTTTTGTCGC -3'

Sequencing Primer
(F):5'- ACATAGCCCTTGCTGATGG -3'
(R):5'- GTTGTTTTGTCGCCCCACTG -3'

Posted On

2013-07-11