Mutagenetix > Incidental Mutation

Incidental Mutation 'R4093:Trpc1'

317743

Institutional Source

Beutler Lab

Gene Symbol

Trpc1

Ensembl Gene

ENSMUSG00000032839

Gene Name

transient receptor potential cation channel, subfamily C, member 1

Synonyms

Mtrp1, Trp1, Trrp1

MMRRC Submission

041627-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R4093 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95587135-95632428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95588918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 769 (T769A)

Ref Sequence

ENSEMBL: ENSMUSP00000139672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053785] [ENSMUST00000189137] [ENSMUST00000190497] [ENSMUST00000190604]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053785
AA Change: T735A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000057640
Gene: ENSMUSG00000032839
AA Change: T735A

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
ANK	62	93	1.41e2	SMART
ANK	99	129	2.11e1	SMART
ANK	174	203	1.33e2	SMART
Pfam:TRP_2	209	271	2.6e-27	PFAM
transmembrane domain	367	386	N/A	INTRINSIC
Pfam:Ion_trans	407	673	5.9e-17	PFAM
coiled coil region	770	794	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189137
AA Change: T769A

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139672
Gene: ENSMUSG00000032839
AA Change: T769A

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
ANK	62	93	1.41e2	SMART
ANK	99	129	2.11e1	SMART
ANK	174	203	1.33e2	SMART
Pfam:TRP_2	209	271	1.8e-29	PFAM
transmembrane domain	367	386	N/A	INTRINSIC
transmembrane domain	407	424	N/A	INTRINSIC
Pfam:Ion_trans	441	661	1.2e-21	PFAM
coiled coil region	770	794	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190497

SMART Domains

Protein: ENSMUSP00000140550
Gene: ENSMUSG00000032839

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190604

SMART Domains

Protein: ENSMUSP00000139577
Gene: ENSMUSG00000032839

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC

Meta Mutation Damage Score

0.0586

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

92% (69/75)

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: Mice homozygous for a knock-out allele exhibit increased body weight and a severe loss of salivary gland fluid secretion due to attenuation of store-operated Ca2+ currents. Surprisingly, no abnormalities are seen in store-operated or mechanosensitive cation channels in vascular smooth muscle cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,093,996 (GRCm39)	M2173V	probably damaging	Het
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Angpt1	T	C	15: 42,386,941 (GRCm39)	T138A	probably damaging	Het
Atp2c2	G	A	8: 120,476,610 (GRCm39)		probably null	Het
Cadm2	A	G	16: 66,581,675 (GRCm39)	V210A	possibly damaging	Het
Cfap70	A	T	14: 20,459,181 (GRCm39)	D671E	probably damaging	Het
Chd2	C	T	7: 73,150,764 (GRCm39)	E322K	possibly damaging	Het
Chrnd	C	T	1: 87,118,729 (GRCm39)	Q29*	probably null	Het
Cip2a	T	C	16: 48,821,339 (GRCm39)		probably benign	Het
Cym	A	G	3: 107,121,582 (GRCm39)	S237P	probably benign	Het
D030068K23Rik	A	G	8: 109,978,091 (GRCm39)		noncoding transcript	Het
Gsdma2	T	A	11: 98,541,677 (GRCm39)	S135T	probably benign	Het
Hc	A	T	2: 34,873,819 (GRCm39)	Y158*	probably null	Het
Hoxb3	C	A	11: 96,236,926 (GRCm39)	H335N	probably damaging	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Ighv1-19	G	A	12: 114,672,350 (GRCm39)	T90I	probably damaging	Het
Kansl3	C	A	1: 36,384,035 (GRCm39)	S729I	probably damaging	Het
Kcnab1	T	C	3: 65,207,035 (GRCm39)	I137T	possibly damaging	Het
Kcnt1	A	T	2: 25,767,927 (GRCm39)	E12V	probably damaging	Het
Klk15	A	T	7: 43,588,204 (GRCm39)	S171C	possibly damaging	Het
Lcn2	A	T	2: 32,277,728 (GRCm39)	M1K	probably null	Het
Lrig1	T	C	6: 94,590,559 (GRCm39)	D487G	probably benign	Het
Lrp8	T	A	4: 107,700,468 (GRCm39)	C135*	probably null	Het
Lrrc31	C	A	3: 30,749,671 (GRCm39)	S54I	probably damaging	Het
Ltbp4	A	G	7: 27,024,641 (GRCm39)	V663A	possibly damaging	Het
Med27	G	A	2: 29,267,920 (GRCm39)		probably benign	Het
Mical1	T	C	10: 41,362,933 (GRCm39)		probably benign	Het
Myt1	A	T	2: 181,453,191 (GRCm39)	M799L	probably damaging	Het
Nlrc4	T	C	17: 74,752,953 (GRCm39)	M477V	probably benign	Het
Npy4r	T	C	14: 33,869,098 (GRCm39)	I63M	probably benign	Het
Or2t43	A	T	11: 58,457,655 (GRCm39)	I172N	probably damaging	Het
Or52e15	C	T	7: 104,645,842 (GRCm39)	G90S	probably benign	Het
Or8b1b	T	A	9: 38,375,379 (GRCm39)	L14Q	probably null	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Piezo1	A	C	8: 123,227,899 (GRCm39)		probably null	Het
Ppp1r12c	T	C	7: 4,486,366 (GRCm39)	E601G	probably damaging	Het
Proser1	T	C	3: 53,387,133 (GRCm39)		probably null	Het
Psme2	A	T	14: 55,825,734 (GRCm39)	N143K	probably benign	Het
Pygo2	C	A	3: 89,340,571 (GRCm39)	P323Q	probably damaging	Het
Rab11b	T	C	17: 33,968,763 (GRCm39)	T77A	possibly damaging	Het
Recql5	A	G	11: 115,795,714 (GRCm39)	S190P	probably benign	Het
Serpina12	A	G	12: 104,004,183 (GRCm39)	F150L	probably damaging	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc22a2	C	T	17: 12,831,281 (GRCm39)	T357M	probably damaging	Het
Spag6l	A	C	16: 16,646,888 (GRCm39)	N39K	probably benign	Het
Srl	A	G	16: 4,315,316 (GRCm39)	S109P	possibly damaging	Het
Tagap	A	T	17: 8,148,255 (GRCm39)	H152L	probably damaging	Het
Tbx3	T	A	5: 119,818,813 (GRCm39)	S463T	probably benign	Het
Tcaf2	A	G	6: 42,619,772 (GRCm39)	L85P	probably damaging	Het
Tenm4	A	T	7: 96,544,979 (GRCm39)	S2332C	probably damaging	Het
Trim60	A	T	8: 65,454,030 (GRCm39)	M73K	probably benign	Het
Tubgcp4	T	A	2: 121,025,958 (GRCm39)	L601Q	probably benign	Het
Unc5d	T	C	8: 29,334,865 (GRCm39)	Y154C	possibly damaging	Het
Vmn1r185	A	T	7: 26,311,208 (GRCm39)	V99E	probably damaging	Het
Vmn1r57	G	T	7: 5,223,856 (GRCm39)	S127I	possibly damaging	Het
Vmn1r62	T	A	7: 5,678,943 (GRCm39)	M208K	probably damaging	Het
Vmn2r110	T	C	17: 20,803,642 (GRCm39)	D311G	possibly damaging	Het
Vmn2r48	C	A	7: 9,676,185 (GRCm39)	S432I	probably benign	Het
Vmn2r48	T	A	7: 9,676,186 (GRCm39)	S432C	probably damaging	Het
Vmn2r71	T	C	7: 85,270,442 (GRCm39)	V536A	probably benign	Het
Vstm2a	A	G	11: 16,209,884 (GRCm39)	T37A	probably damaging	Het
Wfs1	T	C	5: 37,124,809 (GRCm39)	H694R	probably damaging	Het
Zdbf2	T	C	1: 63,348,940 (GRCm39)	S2440P	possibly damaging	Het
Zfp61	A	G	7: 23,990,700 (GRCm39)		probably null	Het
Zfp64	T	C	2: 168,767,855 (GRCm39)	T586A	probably benign	Het
Zfp943	T	A	17: 22,211,963 (GRCm39)	C350S	probably damaging	Het

Other mutations in Trpc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Trpc1	APN	9	95,608,547 (GRCm39)	missense	probably damaging	1.00
IGL02094:Trpc1	APN	9	95,625,334 (GRCm39)	missense	probably damaging	1.00
IGL02412:Trpc1	APN	9	95,618,914 (GRCm39)	missense	probably damaging	1.00
IGL02494:Trpc1	APN	9	95,590,360 (GRCm39)	missense	probably damaging	1.00
IGL02943:Trpc1	APN	9	95,590,906 (GRCm39)	splice site	probably benign
IGL03025:Trpc1	APN	9	95,592,313 (GRCm39)	missense	probably damaging	1.00
IGL03221:Trpc1	APN	9	95,588,953 (GRCm39)	missense	probably damaging	1.00
Enlarged	UTSW	9	95,603,524 (GRCm39)	critical splice acceptor site	probably null
luxus	UTSW	9	95,603,185 (GRCm39)	critical splice donor site	probably null
Magnified	UTSW	9	95,608,490 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Trpc1	UTSW	9	95,618,974 (GRCm39)	missense	probably benign	0.21
R0034:Trpc1	UTSW	9	95,631,814 (GRCm39)	missense	probably damaging	0.98
R1973:Trpc1	UTSW	9	95,605,308 (GRCm39)	missense	probably benign
R2033:Trpc1	UTSW	9	95,588,896 (GRCm39)	missense	probably damaging	0.99
R2117:Trpc1	UTSW	9	95,599,637 (GRCm39)	missense	probably damaging	1.00
R2262:Trpc1	UTSW	9	95,588,986 (GRCm39)	missense	probably damaging	1.00
R2910:Trpc1	UTSW	9	95,631,895 (GRCm39)	missense	probably benign	0.00
R2918:Trpc1	UTSW	9	95,605,182 (GRCm39)	missense	probably damaging	1.00
R3156:Trpc1	UTSW	9	95,603,185 (GRCm39)	critical splice donor site	probably null
R3427:Trpc1	UTSW	9	95,614,249 (GRCm39)	missense	probably benign	0.12
R4384:Trpc1	UTSW	9	95,614,161 (GRCm39)	missense	probably benign	0.13
R4787:Trpc1	UTSW	9	95,603,468 (GRCm39)	missense	probably benign	0.02
R5327:Trpc1	UTSW	9	95,603,524 (GRCm39)	critical splice acceptor site	probably null
R5576:Trpc1	UTSW	9	95,603,377 (GRCm39)	missense	probably damaging	0.97
R6320:Trpc1	UTSW	9	95,603,303 (GRCm39)	missense	probably damaging	1.00
R6499:Trpc1	UTSW	9	95,608,490 (GRCm39)	missense	probably damaging	1.00
R6714:Trpc1	UTSW	9	95,605,326 (GRCm39)	missense	probably damaging	1.00
R7179:Trpc1	UTSW	9	95,603,197 (GRCm39)	missense	possibly damaging	0.82
R7265:Trpc1	UTSW	9	95,590,328 (GRCm39)	missense	probably benign
R8169:Trpc1	UTSW	9	95,592,323 (GRCm39)	nonsense	probably null
R8288:Trpc1	UTSW	9	95,603,434 (GRCm39)	missense	probably damaging	1.00
R8342:Trpc1	UTSW	9	95,608,601 (GRCm39)	missense	probably damaging	1.00
R9276:Trpc1	UTSW	9	95,590,288 (GRCm39)	missense	probably benign	0.13
R9317:Trpc1	UTSW	9	95,603,275 (GRCm39)	missense	probably damaging	1.00
R9509:Trpc1	UTSW	9	95,625,249 (GRCm39)	critical splice donor site	probably null
R9529:Trpc1	UTSW	9	95,592,250 (GRCm39)	missense	probably damaging	1.00
R9784:Trpc1	UTSW	9	95,599,646 (GRCm39)	missense	possibly damaging	0.92
R9800:Trpc1	UTSW	9	95,625,303 (GRCm39)	missense	probably damaging	1.00
X0026:Trpc1	UTSW	9	95,614,097 (GRCm39)	missense	probably benign	0.36
Z1176:Trpc1	UTSW	9	95,605,269 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGAGTTAAGCACTGACCAAC -3'
(R):5'- GCAGATGTTTGTCTAGCAGGC -3'

Sequencing Primer
(F):5'- CGGGTTTGCTTCTACAAAAAGCC -3'
(R):5'- ATGTGTGTGTGTATACATGTTCTTAC -3'

Posted On

2015-05-15