Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01578:Trpc6'

91323

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trpc6

Ensembl Gene

ENSMUSG00000031997

Gene Name

transient receptor potential cation channel, subfamily C, member 6

Synonyms

mtrp6, Trrp6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01578

Quality Score

Status

Chromosome

Chromosomal Location

8544143-8680742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8634058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 379 (H379L)

Ref Sequence

ENSEMBL: ENSMUSP00000149686 (fasta)

Gene Model

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

AlphaFold

Q61143

Predicted Effect

probably damaging
Transcript: ENSMUST00000050433
AA Change: H379L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: H379L

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: H379L

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

Meta Mutation Damage Score

0.9238

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	G	A	17: 68,165,195 (GRCm39)	T516I	probably benign	Het
Birc6	T	C	17: 74,955,192 (GRCm39)	C3486R	probably benign	Het
Camk2g	G	A	14: 20,797,922 (GRCm39)		probably benign	Het
Cplane1	A	G	15: 8,300,194 (GRCm39)	E3167G	unknown	Het
Dmxl1	T	A	18: 50,095,272 (GRCm39)	H2950Q	probably damaging	Het
Eml6	A	T	11: 29,800,870 (GRCm39)	S379T	probably benign	Het
Epb41l3	C	T	17: 69,555,704 (GRCm39)	H13Y	probably damaging	Het
Fam149a	A	T	8: 45,803,479 (GRCm39)	D337E	probably damaging	Het
Galnt14	T	A	17: 73,842,361 (GRCm39)		probably benign	Het
Gm6489	G	T	1: 31,326,416 (GRCm39)		noncoding transcript	Het
Hspg2	G	A	4: 137,266,494 (GRCm39)	R1885H	probably damaging	Het
Jag1	T	A	2: 136,941,971 (GRCm39)		probably benign	Het
Nalcn	A	T	14: 123,809,503 (GRCm39)	N216K	probably benign	Het
Ndst1	T	C	18: 60,846,198 (GRCm39)	Y37C	probably damaging	Het
Nr2c2	A	G	6: 92,139,019 (GRCm39)	N486S	probably benign	Het
Obscn	A	T	11: 58,890,506 (GRCm39)	L7342Q	unknown	Het
Or13l2	A	T	3: 97,318,036 (GRCm39)	C154S	probably damaging	Het
Or56b2	A	G	7: 104,338,052 (GRCm39)	I277V	probably benign	Het
Or8k20	C	A	2: 86,106,085 (GRCm39)	V249F	probably damaging	Het
Pou4f2	A	C	8: 79,162,284 (GRCm39)	D106E	probably damaging	Het
Ppic	G	A	18: 53,551,001 (GRCm39)	P10S	unknown	Het
Psd2	A	G	18: 36,112,838 (GRCm39)	T178A	probably damaging	Het
Ro60	A	T	1: 143,637,038 (GRCm39)	N391K	probably damaging	Het
Slc25a34	G	T	4: 141,349,821 (GRCm39)		probably null	Het
Stap2	A	G	17: 56,304,623 (GRCm39)	S360P	probably benign	Het
Stx3	T	C	19: 11,763,969 (GRCm39)	E129G	probably damaging	Het
Sun3	T	A	11: 8,979,436 (GRCm39)	E28D	probably damaging	Het
Tmem126a	C	T	7: 90,100,750 (GRCm39)		probably null	Het
Ttf2	A	G	3: 100,863,511 (GRCm39)	S608P	possibly damaging	Het
Tubgcp3	T	C	8: 12,711,297 (GRCm39)		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
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
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

Posted On

2013-12-09