Mutagenetix > Incidental Mutation

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, Trcp3, Trrp3

MMRRC Submission

038830-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0645 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

36674626-36744276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36725654 bp (GRCm39)

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]

AlphaFold

no structure available at present

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
Adam18	G	T	8: 25,162,136 (GRCm39)	Y46*	probably null	Het
Adam26b	A	C	8: 43,973,524 (GRCm39)	C493G	probably damaging	Het
Ak5	A	T	3: 152,359,252 (GRCm39)	L182Q	probably damaging	Het
Akt1s1	T	C	7: 44,498,645 (GRCm39)		probably benign	Het
Amhr2	G	T	15: 102,354,863 (GRCm39)	G133C	probably damaging	Het
Btbd9	A	T	17: 30,743,941 (GRCm39)	L187Q	probably damaging	Het
Ccdc117	A	T	11: 5,484,385 (GRCm39)		probably benign	Het
Ccdc138	A	T	10: 58,411,542 (GRCm39)	I637F	probably damaging	Het
Ccdc162	A	G	10: 41,462,407 (GRCm39)		probably benign	Het
Cdc25b	C	A	2: 131,033,533 (GRCm39)	H157Q	probably benign	Het
Cdon	A	G	9: 35,388,379 (GRCm39)		probably null	Het
Cdt1	G	A	8: 123,298,884 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,816,458 (GRCm39)		probably null	Het
Cfb	T	C	17: 35,078,992 (GRCm39)	K831R	probably benign	Het
Cldn4	C	A	5: 134,975,645 (GRCm39)		probably benign	Het
Cntnap5b	T	C	1: 99,999,767 (GRCm39)		probably benign	Het
Cyp27b1	T	G	10: 126,884,967 (GRCm39)	S77A	probably benign	Het
Dlc1	T	C	8: 37,041,203 (GRCm39)	D1342G	possibly damaging	Het
Dlgap4	A	G	2: 156,603,799 (GRCm39)	H887R	probably damaging	Het
Duox2	A	G	2: 122,123,139 (GRCm39)	I503T	probably damaging	Het
Eml4	T	C	17: 83,770,922 (GRCm39)		probably benign	Het
Ermap	A	G	4: 119,042,888 (GRCm39)	S212P	probably benign	Het
Esrrg	T	A	1: 187,775,538 (GRCm39)	C22S	probably benign	Het
Evx2	T	A	2: 74,488,238 (GRCm39)	Y194F	possibly damaging	Het
Fbn2	T	G	18: 58,191,461 (GRCm39)	D1554A	probably damaging	Het
Flrt1	G	A	19: 7,074,508 (GRCm39)		probably benign	Het
Fndc5	A	G	4: 129,033,630 (GRCm39)		probably benign	Het
Frem1	A	T	4: 82,907,403 (GRCm39)	I837N	probably damaging	Het
Fzd10	G	T	5: 128,679,662 (GRCm39)	A461S	possibly damaging	Het
Ganab	T	A	19: 8,888,477 (GRCm39)	Y511N	probably damaging	Het
Gbp7	A	G	3: 142,243,926 (GRCm39)		probably null	Het
Gm5919	T	A	9: 83,765,436 (GRCm39)	C91S	unknown	Het
Gpr31b	A	T	17: 13,271,093 (GRCm39)	C25*	probably null	Het
Grb10	A	G	11: 11,886,755 (GRCm39)	S505P	probably damaging	Het
Grm4	A	T	17: 27,654,183 (GRCm39)	V542E	probably damaging	Het
Gsta5	T	C	9: 78,206,303 (GRCm39)	I75T	possibly damaging	Het
Hivep3	G	A	4: 119,954,531 (GRCm39)	R949H	possibly damaging	Het
Hycc1	C	T	5: 24,184,506 (GRCm39)	G242D	probably damaging	Het
Invs	A	T	4: 48,407,653 (GRCm39)	M543L	probably benign	Het
Kcnk2	T	C	1: 188,988,927 (GRCm39)		probably null	Het
Kdm6b	A	T	11: 69,295,844 (GRCm39)	S808T	unknown	Het
Klhl30	C	T	1: 91,283,228 (GRCm39)	R277W	probably damaging	Het
Lama1	A	G	17: 68,080,707 (GRCm39)	Q1245R	probably benign	Het
Lingo3	G	T	10: 80,671,169 (GRCm39)	H254N	probably benign	Het
Lzts1	A	T	8: 69,588,392 (GRCm39)	H521Q	possibly damaging	Het
Map3k19	A	C	1: 127,749,919 (GRCm39)	I1144S	possibly damaging	Het
Mast2	A	G	4: 116,165,184 (GRCm39)	S1411P	probably damaging	Het
Mast2	T	C	4: 116,170,043 (GRCm39)		probably benign	Het
Mesp1	G	T	7: 79,442,328 (GRCm39)	S225R	possibly damaging	Het
Micu1	A	G	10: 59,675,503 (GRCm39)	T366A	possibly damaging	Het
Mideas	G	T	12: 84,205,077 (GRCm39)	N834K	possibly damaging	Het
Mknk2	T	C	10: 80,507,742 (GRCm39)		probably null	Het
Msh5	A	G	17: 35,258,199 (GRCm39)	L309P	probably damaging	Het
Myo7b	T	C	18: 32,127,962 (GRCm39)	I577V	probably benign	Het
Myom2	T	A	8: 15,167,698 (GRCm39)	D1094E	probably damaging	Het
Nedd1	T	C	10: 92,527,693 (GRCm39)		probably null	Het
Neu4	T	C	1: 93,950,191 (GRCm39)	L50S	probably damaging	Het
Noa1	T	C	5: 77,457,722 (GRCm39)	Y61C	probably benign	Het
Nr1h4	A	T	10: 89,342,390 (GRCm39)	M30K	probably benign	Het
Nsd3	A	G	8: 26,199,096 (GRCm39)	I1219V	probably benign	Het
Nup188	T	A	2: 30,233,478 (GRCm39)		probably null	Het
Or10ag2	T	A	2: 87,248,612 (GRCm39)	Y71*	probably null	Het
Or5al5	A	G	2: 85,961,378 (GRCm39)	S210P	probably damaging	Het
Or6c208	T	A	10: 129,224,162 (GRCm39)	I220N	possibly damaging	Het
Or6k2	A	T	1: 173,986,920 (GRCm39)	T194S	probably benign	Het
Pbk	G	A	14: 66,051,245 (GRCm39)		probably benign	Het
Pcnx2	G	A	8: 126,487,459 (GRCm39)	T1848M	possibly damaging	Het
Pdzd7	C	T	19: 45,033,914 (GRCm39)	G57R	possibly damaging	Het
Pik3r4	C	A	9: 105,546,386 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,766,433 (GRCm39)	S2153G	probably damaging	Het
Potefam1	C	T	2: 111,044,928 (GRCm39)		probably null	Het
Pphln1	G	A	15: 93,318,192 (GRCm39)	V34M	possibly damaging	Het
Prrc2a	T	C	17: 35,375,308 (GRCm39)	D1114G	probably damaging	Het
Prss16	T	C	13: 22,193,546 (GRCm39)		probably benign	Het
Rtp3	T	C	9: 110,816,168 (GRCm39)	K128E	probably damaging	Het
Scn3a	T	A	2: 65,355,194 (GRCm39)	I241F	possibly damaging	Het
Setd1a	G	A	7: 127,386,382 (GRCm39)	V336I	probably damaging	Het
Sfpq	A	G	4: 126,916,762 (GRCm39)	I320V	possibly damaging	Het
Skint5	A	T	4: 113,620,679 (GRCm39)	D678E	unknown	Het
Slc12a9	G	A	5: 137,313,638 (GRCm39)	P774S	probably benign	Het
Slc25a54	C	G	3: 109,019,481 (GRCm39)	L362V	possibly damaging	Het
Smarcd1	A	G	15: 99,605,267 (GRCm39)		probably null	Het
Spata31e5	T	A	1: 28,816,011 (GRCm39)	N674Y	probably damaging	Het
Suco	A	T	1: 161,661,683 (GRCm39)	M916K	probably damaging	Het
Tiam2	T	C	17: 3,564,973 (GRCm39)	S1404P	possibly damaging	Het
Topors	T	C	4: 40,260,333 (GRCm39)	T984A	unknown	Het
Trabd2b	A	T	4: 114,443,767 (GRCm39)	K308M	probably damaging	Het
Trmo	A	T	4: 46,377,083 (GRCm39)		probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uggt2	A	C	14: 119,295,010 (GRCm39)	Y539D	probably benign	Het
Wwc2	T	G	8: 48,353,674 (GRCm39)		probably benign	Het
Zdbf2	T	A	1: 63,344,109 (GRCm39)	D829E	possibly 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
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
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

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