Mutagenetix > Incidental Mutation

Incidental Mutation 'R1828:Trpc3'

206985

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

039855-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1828 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36674626-36744276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36692695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 766 (P766S)

Ref Sequence

ENSEMBL: ENSMUSP00000029271 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029271
AA Change: P766S

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: P766S

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

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,190,962 (GRCm39)	T156A	probably benign	Het
9230106D20Rik	A	T	10: 19,536,065 (GRCm39)		noncoding transcript	Het
Abca3	A	G	17: 24,585,171 (GRCm39)	D144G	probably benign	Het
Anxa2	T	A	9: 69,390,260 (GRCm39)	L121Q	probably damaging	Het
Anxa7	A	T	14: 20,512,732 (GRCm39)	I267N	probably damaging	Het
Asb14	A	T	14: 26,633,797 (GRCm39)	D334V	possibly damaging	Het
Batf3	A	G	1: 190,830,714 (GRCm39)	N20S	probably benign	Het
Bub1b	A	G	2: 118,468,920 (GRCm39)	H895R	probably benign	Het
C1qtnf12	G	A	4: 156,050,160 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,130,385 (GRCm39)	I294V	probably damaging	Het
Ccdc142	G	A	6: 83,084,462 (GRCm39)	A527T	probably damaging	Het
Ccdc168	A	T	1: 44,096,234 (GRCm39)	N1621K	possibly damaging	Het
Ccdc92	T	C	5: 124,913,242 (GRCm39)	N96D	probably benign	Het
Ceacam18	T	A	7: 43,288,880 (GRCm39)	D210E	probably benign	Het
Cenpe	A	G	3: 134,952,257 (GRCm39)	T1373A	probably damaging	Het
Cfap161	T	G	7: 83,440,932 (GRCm39)		probably null	Het
Cimip4	T	C	15: 78,270,588 (GRCm39)	Y60C	possibly damaging	Het
Cldn19	A	G	4: 119,112,990 (GRCm39)	D74G	probably benign	Het
Clec12a	A	G	6: 129,330,762 (GRCm39)	T115A	probably damaging	Het
Cox7a2l	T	A	17: 83,811,397 (GRCm39)	Q78L	probably benign	Het
Crot	T	C	5: 9,019,080 (GRCm39)	N491S	probably benign	Het
Cspg4b	T	A	13: 113,505,342 (GRCm39)	L2157Q	probably damaging	Het
Ctr9	A	G	7: 110,643,165 (GRCm39)		probably null	Het
Cyp4f14	T	G	17: 33,130,209 (GRCm39)	D190A	probably damaging	Het
D630039A03Rik	C	T	4: 57,910,240 (GRCm39)	V191I	probably benign	Het
Dnah10	A	T	5: 124,838,343 (GRCm39)	N1124I	probably benign	Het
Duox1	T	A	2: 122,177,861 (GRCm39)	Y1548*	probably null	Het
Epdr1	G	A	13: 19,778,773 (GRCm39)	Q6*	probably null	Het
Erbin	A	G	13: 103,996,577 (GRCm39)		probably null	Het
Ero1a	A	T	14: 45,525,217 (GRCm39)	I436K	probably damaging	Het
Exph5	A	T	9: 53,287,941 (GRCm39)	Q1674L	possibly damaging	Het
Fat4	A	T	3: 39,037,607 (GRCm39)	Y3753F	probably damaging	Het
Gaa	T	C	11: 119,174,098 (GRCm39)	V763A	probably damaging	Het
Golim4	G	A	3: 75,809,745 (GRCm39)	T216I	probably damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Gtf2f2	A	G	14: 76,245,143 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,469,694 (GRCm39)	Y70C	probably damaging	Het
Hao1	T	A	2: 134,372,584 (GRCm39)	R141S	probably benign	Het
Hecw2	T	C	1: 53,965,182 (GRCm39)	D548G	probably benign	Het
Hr	G	A	14: 70,809,477 (GRCm39)		probably null	Het
Hrg	A	C	16: 22,774,853 (GRCm39)	E161A	probably damaging	Het
Hydin	A	T	8: 111,237,526 (GRCm39)	N1933I	probably benign	Het
Itpr2	A	G	6: 146,229,830 (GRCm39)	L1255P	probably damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kif5c	T	C	2: 49,570,252 (GRCm39)		probably null	Het
Mgat5b	C	A	11: 116,868,614 (GRCm39)	H512Q	probably damaging	Het
Mtmr4	T	C	11: 87,502,943 (GRCm39)	V999A	probably benign	Het
Mttp	G	T	3: 137,813,041 (GRCm39)	Q545K	probably damaging	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nexn	A	G	3: 151,948,405 (GRCm39)	I386T	probably damaging	Het
Nrip3	A	G	7: 109,365,763 (GRCm39)	S85P	probably benign	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Olr1	T	C	6: 129,465,895 (GRCm39)	N37S	possibly damaging	Het
Or14j5	C	T	17: 38,161,966 (GRCm39)	A161V	probably benign	Het
Or4b1d	A	G	2: 89,968,931 (GRCm39)	L184S	probably damaging	Het
Or4c105	A	T	2: 88,648,402 (GRCm39)	I296F	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or5p80	G	T	7: 108,229,855 (GRCm39)	V219F	possibly damaging	Het
Pax4	T	C	6: 28,443,446 (GRCm39)	Y290C	probably benign	Het
Pcdhb2	T	A	18: 37,429,038 (GRCm39)	V337D	probably damaging	Het
Pglyrp4	T	C	3: 90,640,310 (GRCm39)	Y187H	probably damaging	Het
Pi4ka	A	G	16: 17,098,614 (GRCm39)	M2017T	probably benign	Het
Pkdrej	T	C	15: 85,703,483 (GRCm39)	T818A	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Pygm	T	C	19: 6,447,637 (GRCm39)	I648T	possibly damaging	Het
Rab4a	A	T	8: 124,550,565 (GRCm39)	K15I	probably damaging	Het
Rasa3	T	C	8: 13,635,035 (GRCm39)	E428G	probably benign	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
Rpl3	C	T	15: 79,964,591 (GRCm39)	V222M	possibly damaging	Het
Rtl9	C	T	X: 141,886,011 (GRCm39)	S1141F	possibly damaging	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Sfswap	C	T	5: 129,590,148 (GRCm39)	T215I	probably damaging	Het
Slit2	A	G	5: 48,461,372 (GRCm39)	D1456G	probably damaging	Het
Tex19.2	C	T	11: 121,008,317 (GRCm39)	V44I	probably benign	Het
Tmem127	G	A	2: 127,098,094 (GRCm39)		probably null	Het
Tpd52	G	T	3: 9,012,579 (GRCm39)	N59K	probably damaging	Het
Usp17la	T	A	7: 104,510,331 (GRCm39)	V312D	probably damaging	Het
Xirp2	A	G	2: 67,345,582 (GRCm39)	N2608D	possibly damaging	Het
Zfp764l1	T	A	7: 126,991,081 (GRCm39)	H302L	probably damaging	Het
Zscan25	C	A	5: 145,227,858 (GRCm39)	H507Q	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
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
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'- ACCATGGGATAGGCAGCTATG -3'
(R):5'- CCACGGGTATATGCACACAC -3'

Sequencing Primer
(F):5'- AATCTCTTCTAAGTTCACACACGG -3'
(R):5'- ACAGGATGACAGTGATGT -3'

Posted On

2014-06-23