Mutagenetix > Incidental Mutation

Incidental Mutation 'R0665:Trpc6'

61985

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

038850-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0665 (G1)

Quality Score

164

Status

Not validated

Chromosome

Chromosomal Location

8544143-8680742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 8634123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 401 (T401P)

Ref Sequence

ENSEMBL: ENSMUSP00000149686 (fasta)

Gene Model

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

AlphaFold

Q61143

Predicted Effect

probably benign
Transcript: ENSMUST00000050433
AA Change: T401P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: T401P

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 benign
Transcript: ENSMUST00000214596
AA Change: T401P

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

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 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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl2	A	G	2: 90,631,554 (GRCm39)	Y304C	probably damaging	Het
B3galt2	T	C	1: 143,522,191 (GRCm39)	V109A	possibly damaging	Het
Chml	T	A	1: 175,515,461 (GRCm39)	E153D	probably benign	Het
Dap3	A	T	3: 88,838,304 (GRCm39)	C78*	probably null	Het
Dnah8	T	C	17: 30,955,129 (GRCm39)	F2053L	probably damaging	Het
Dppa3	A	G	6: 122,606,939 (GRCm39)	E143G	probably damaging	Het
Espnl	T	G	1: 91,262,409 (GRCm39)		probably null	Het
Fat3	C	T	9: 15,908,698 (GRCm39)	A2435T	probably benign	Het
Flnc	G	A	6: 29,455,530 (GRCm39)	V2027M	probably damaging	Het
Gtf2h2	C	T	13: 100,617,562 (GRCm39)	G200E	probably damaging	Het
Gtpbp1	A	G	15: 79,597,648 (GRCm39)	I348V	probably benign	Het
Kansl1	A	G	11: 104,234,364 (GRCm39)	V714A	probably benign	Het
Kcnk10	T	C	12: 98,406,944 (GRCm39)	I251V	probably benign	Het
Kri1	G	A	9: 21,192,936 (GRCm39)		probably benign	Het
Lcmt1	G	A	7: 123,002,094 (GRCm39)	D120N	probably damaging	Het
Myom3	A	G	4: 135,492,237 (GRCm39)	D127G	possibly damaging	Het
Or12e1	A	G	2: 87,022,652 (GRCm39)	Y207C	probably damaging	Het
Or1j4	T	C	2: 36,740,202 (GRCm39)	L48P	probably damaging	Het
Or5w13	C	T	2: 87,524,152 (GRCm39)	V25I	probably benign	Het
Phyhd1	A	G	2: 30,171,040 (GRCm39)	H241R	probably damaging	Het
Ppp2r5d	A	T	17: 46,997,330 (GRCm39)	N287K	probably damaging	Het
Ralgds	A	G	2: 28,435,218 (GRCm39)	H458R	probably damaging	Het
Scn3a	C	A	2: 65,314,755 (GRCm39)	R1102L	probably null	Het
Sdhc	T	C	1: 170,963,626 (GRCm39)	Y80C	probably damaging	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,612,239 (GRCm39)		probably benign	Het
Tgfbr3	A	T	5: 107,325,716 (GRCm39)	H115Q	probably benign	Het
Triobp	T	C	15: 78,858,098 (GRCm39)	L1233P	possibly damaging	Het
Ttc5	T	A	14: 51,003,415 (GRCm39)	Q423L	probably benign	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
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
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'- ACCAGTCATAGGGGAGGGGTCATC -3'
(R):5'- GAGCTAGATCTTTGCCTGCTGGAC -3'

Sequencing Primer
(F):5'- AGAACGGTTTTGCTTGCTACC -3'
(R):5'- TGCTGGACAGAATTCAACTACAG -3'

Posted On

2013-07-30