Mutagenetix > Incidental Mutation

Incidental Mutation 'R0100:Trpc6'

64128

Institutional Source

Beutler Lab

Gene Symbol

Trpc6

Ensembl Gene

ENSMUSG00000031997

Gene Name

transient receptor potential cation channel, subfamily C, member 6

Synonyms

mtrp6, Trrp6

MMRRC Submission

038386-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0100 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

8544143-8680742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8653035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 614 (P614S)

Ref Sequence

ENSEMBL: ENSMUSP00000057965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050433] [ENSMUST00000214596]

AlphaFold

Q61143

Predicted Effect

probably damaging
Transcript: ENSMUST00000050433
AA Change: P614S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: P614S

Domain	Start	End	E-Value	Type
low complexity region	37	54	N/A	INTRINSIC
ANK	96	125	4.73e2	SMART
ANK	131	159	3.49e0	SMART
ANK	217	246	6.61e-1	SMART
Pfam:TRP_2	252	314	4e-29	PFAM
transmembrane domain	406	427	N/A	INTRINSIC
Pfam:Ion_trans	442	738	4.2e-38	PFAM
Pfam:PKD_channel	477	733	3.1e-16	PFAM
low complexity region	770	781	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000214596
AA Change: P536S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215328

Meta Mutation Damage Score

0.6027

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for one null targeted mutation are viable and fertile and exhibit no overt abnormal phenotype. Another knockout results in an increase in thermal nociceptive response latency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,259,415 (GRCm39)	C814R	probably damaging	Het
Bbof1	T	A	12: 84,457,829 (GRCm39)	D31E	probably benign	Het
Ccdc51	C	T	9: 108,921,066 (GRCm39)	Q318*	probably null	Het
Cpxm2	T	A	7: 131,656,600 (GRCm39)	H554L	possibly damaging	Het
Dbr1	T	A	9: 99,465,722 (GRCm39)	D433E	probably benign	Het
Ddx55	C	T	5: 124,694,845 (GRCm39)	T91I	probably damaging	Het
Dhx57	T	C	17: 80,582,585 (GRCm39)	D340G	possibly damaging	Het
Dnah1	C	T	14: 30,984,109 (GRCm39)		probably null	Het
Dpp9	C	T	17: 56,512,854 (GRCm39)	G118D	possibly damaging	Het
Fam81a	C	T	9: 70,010,091 (GRCm39)		probably benign	Het
Fat4	A	C	3: 39,034,397 (GRCm39)	N2683T	probably damaging	Het
Fbxo47	C	T	11: 97,759,432 (GRCm39)	G165S	probably damaging	Het
Garre1	A	G	7: 33,953,436 (GRCm39)	I442T	possibly damaging	Het
Gpatch2	C	A	1: 186,958,014 (GRCm39)	A123E	probably damaging	Het
Greb1	T	A	12: 16,730,225 (GRCm39)	Q1734L	probably benign	Het
Gtf2ird2	T	C	5: 134,245,857 (GRCm39)	L705P	probably damaging	Het
H13	T	A	2: 152,531,783 (GRCm39)		probably null	Het
Hip1	T	C	5: 135,465,307 (GRCm39)	D367G	probably benign	Het
Ift140	C	T	17: 25,309,928 (GRCm39)	Q1112*	probably null	Het
Il17b	A	G	18: 61,823,342 (GRCm39)	M59V	probably benign	Het
Lpin3	T	C	2: 160,747,260 (GRCm39)	Y829H	probably damaging	Het
Mocs3	C	T	2: 168,073,110 (GRCm39)	R186C	probably damaging	Het
Or10al5	T	C	17: 38,063,594 (GRCm39)	F283S	probably benign	Het
Or2bd2	C	T	7: 6,443,399 (GRCm39)	R167C	probably damaging	Het
Or4c120	T	A	2: 89,001,431 (GRCm39)	I42F	probably benign	Het
Or5be3	T	C	2: 86,863,939 (GRCm39)	T209A	probably benign	Het
Osgepl1	A	G	1: 53,362,372 (GRCm39)	I405V	probably damaging	Het
Pdcd11	T	C	19: 47,091,105 (GRCm39)	S360P	probably benign	Het
Plekhs1	A	G	19: 56,466,934 (GRCm39)	E255G	probably damaging	Het
Tex22	T	A	12: 113,052,392 (GRCm39)	I150N	probably benign	Het
Tmem106a	T	C	11: 101,477,084 (GRCm39)	S98P	probably benign	Het
Tnfrsf18	A	G	4: 156,112,823 (GRCm39)	T170A	probably benign	Het
Usp28	C	A	9: 48,947,232 (GRCm39)	P566Q	probably damaging	Het
Washc5	A	G	15: 59,215,947 (GRCm39)	F811L	possibly damaging	Het

Other mutations in Trpc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Trpc6	APN	9	8,680,439 (GRCm39)	missense	probably damaging	1.00
IGL00469:Trpc6	APN	9	8,626,702 (GRCm39)	missense	probably benign
IGL00970:Trpc6	APN	9	8,653,152 (GRCm39)	missense	probably damaging	1.00
IGL01299:Trpc6	APN	9	8,653,062 (GRCm39)	missense	probably damaging	1.00
IGL01563:Trpc6	APN	9	8,656,604 (GRCm39)	missense	probably damaging	1.00
IGL01578:Trpc6	APN	9	8,634,058 (GRCm39)	missense	probably damaging	1.00
IGL02657:Trpc6	APN	9	8,643,602 (GRCm39)	missense	possibly damaging	0.94
IGL02735:Trpc6	APN	9	8,655,339 (GRCm39)	missense	probably damaging	1.00
IGL03102:Trpc6	APN	9	8,649,302 (GRCm39)	missense	probably benign	0.07
P0038:Trpc6	UTSW	9	8,649,512 (GRCm39)	missense	possibly damaging	0.52
PIT4531001:Trpc6	UTSW	9	8,610,149 (GRCm39)	missense	probably benign	0.14
R0100:Trpc6	UTSW	9	8,653,035 (GRCm39)	missense	probably damaging	1.00
R0323:Trpc6	UTSW	9	8,643,537 (GRCm39)	missense	probably damaging	1.00
R0323:Trpc6	UTSW	9	8,610,276 (GRCm39)	missense	probably damaging	1.00
R0334:Trpc6	UTSW	9	8,610,344 (GRCm39)	missense	probably damaging	1.00
R0665:Trpc6	UTSW	9	8,634,123 (GRCm39)	missense	probably benign	0.11
R0948:Trpc6	UTSW	9	8,610,416 (GRCm39)	missense	possibly damaging	0.60
R1177:Trpc6	UTSW	9	8,658,305 (GRCm39)	missense	probably benign	0.04
R1217:Trpc6	UTSW	9	8,658,287 (GRCm39)	splice site	probably null
R1445:Trpc6	UTSW	9	8,680,538 (GRCm39)	missense	probably benign	0.00
R1452:Trpc6	UTSW	9	8,653,148 (GRCm39)	missense	probably damaging	0.99
R1494:Trpc6	UTSW	9	8,658,305 (GRCm39)	missense	probably benign	0.04
R1501:Trpc6	UTSW	9	8,610,170 (GRCm39)	missense	probably damaging	0.99
R1933:Trpc6	UTSW	9	8,656,546 (GRCm39)	missense	probably damaging	1.00
R2112:Trpc6	UTSW	9	8,656,613 (GRCm39)	missense	probably damaging	1.00
R2164:Trpc6	UTSW	9	8,610,466 (GRCm39)	nonsense	probably null
R2921:Trpc6	UTSW	9	8,653,034 (GRCm39)	missense	possibly damaging	0.94
R2995:Trpc6	UTSW	9	8,544,467 (GRCm39)	missense	probably benign	0.30
R3821:Trpc6	UTSW	9	8,610,279 (GRCm39)	missense	probably damaging	1.00
R3965:Trpc6	UTSW	9	8,626,622 (GRCm39)	missense	probably damaging	1.00
R4360:Trpc6	UTSW	9	8,610,267 (GRCm39)	missense	probably benign	0.10
R4625:Trpc6	UTSW	9	8,677,963 (GRCm39)	missense	probably benign	0.40
R4691:Trpc6	UTSW	9	8,652,979 (GRCm39)	missense	probably damaging	1.00
R4736:Trpc6	UTSW	9	8,609,871 (GRCm39)	missense	probably damaging	1.00
R4767:Trpc6	UTSW	9	8,643,687 (GRCm39)	missense	probably damaging	1.00
R4773:Trpc6	UTSW	9	8,609,852 (GRCm39)	missense	possibly damaging	0.78
R4792:Trpc6	UTSW	9	8,626,615 (GRCm39)	missense	probably benign	0.00
R5105:Trpc6	UTSW	9	8,649,471 (GRCm39)	missense	probably benign
R5319:Trpc6	UTSW	9	8,609,922 (GRCm39)	missense	probably damaging	1.00
R5429:Trpc6	UTSW	9	8,634,075 (GRCm39)	nonsense	probably null
R5505:Trpc6	UTSW	9	8,626,736 (GRCm39)	missense	probably damaging	1.00
R5657:Trpc6	UTSW	9	8,609,808 (GRCm39)	missense	probably benign	0.11
R5684:Trpc6	UTSW	9	8,653,129 (GRCm39)	missense	probably damaging	1.00
R5722:Trpc6	UTSW	9	8,680,550 (GRCm39)	missense	possibly damaging	0.88
R6210:Trpc6	UTSW	9	8,656,731 (GRCm39)	missense	probably benign	0.42
R6284:Trpc6	UTSW	9	8,643,601 (GRCm39)	missense	possibly damaging	0.93
R6773:Trpc6	UTSW	9	8,634,058 (GRCm39)	missense	probably damaging	1.00
R6874:Trpc6	UTSW	9	8,680,439 (GRCm39)	missense	probably damaging	1.00
R7032:Trpc6	UTSW	9	8,609,951 (GRCm39)	missense	probably damaging	1.00
R7142:Trpc6	UTSW	9	8,653,017 (GRCm39)	nonsense	probably null
R7489:Trpc6	UTSW	9	8,656,545 (GRCm39)	missense	probably benign	0.00
R7631:Trpc6	UTSW	9	8,626,702 (GRCm39)	missense	probably benign
R7762:Trpc6	UTSW	9	8,653,150 (GRCm39)	missense	possibly damaging	0.91
R7872:Trpc6	UTSW	9	8,609,910 (GRCm39)	missense	probably damaging	1.00
R7895:Trpc6	UTSW	9	8,655,219 (GRCm39)	missense	probably damaging	1.00
R7911:Trpc6	UTSW	9	8,656,705 (GRCm39)	missense	probably benign
R8115:Trpc6	UTSW	9	8,609,982 (GRCm39)	missense	probably damaging	1.00
R8183:Trpc6	UTSW	9	8,653,150 (GRCm39)	missense	possibly damaging	0.91
R8435:Trpc6	UTSW	9	8,610,441 (GRCm39)	missense	probably damaging	1.00
R8929:Trpc6	UTSW	9	8,643,411 (GRCm39)	intron	probably benign
R9355:Trpc6	UTSW	9	8,649,473 (GRCm39)	missense	probably benign
R9511:Trpc6	UTSW	9	8,680,419 (GRCm39)	missense	probably benign	0.17
R9572:Trpc6	UTSW	9	8,656,622 (GRCm39)	missense	possibly damaging	0.93
R9718:Trpc6	UTSW	9	8,634,190 (GRCm39)	missense	probably damaging	1.00
R9752:Trpc6	UTSW	9	8,643,641 (GRCm39)	missense	probably benign	0.03
Z1176:Trpc6	UTSW	9	8,655,214 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- ACACACTTGAGAAGTTCTTCAGAGCAC -3'
(R):5'- GAGCACCACATACGTTGTGAATGC -3'

Sequencing Primer
(F):5'- CAGAGCACAAGGTTTTACTTGG -3'
(R):5'- CATACGTTGTGAATGCTTCATTCTG -3'

Posted On

2013-08-06