Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01563:Trpc6'

90905

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 #

IGL01563

Quality Score

Status

Chromosome

Chromosomal Location

8544143-8680742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8656604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 677 (E677G)

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: E755G

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: E755G

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: E677G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215328

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,604,965 (GRCm39)	E2205G	probably damaging	Het
Arid2	G	A	15: 96,270,278 (GRCm39)	V1464I	probably damaging	Het
Axin2	A	G	11: 108,814,631 (GRCm39)	Q173R	probably damaging	Het
Best1	A	G	19: 9,964,099 (GRCm39)	F454L	probably benign	Het
CK137956	T	G	4: 127,864,428 (GRCm39)	K67T	possibly damaging	Het
Col14a1	G	A	15: 55,351,337 (GRCm39)	G1555R	unknown	Het
Csad	G	A	15: 102,095,598 (GRCm39)	S153F	probably damaging	Het
Cyp4f40	A	T	17: 32,892,930 (GRCm39)	D315V	probably damaging	Het
Galnt3	G	A	2: 65,928,101 (GRCm39)	A265V	probably damaging	Het
Gm5901	C	A	7: 105,026,722 (GRCm39)	Y163*	probably null	Het
Golga4	A	G	9: 118,356,074 (GRCm39)		probably benign	Het
Greb1l	A	G	18: 10,469,399 (GRCm39)	D138G	probably damaging	Het
Has1	A	T	17: 18,063,924 (GRCm39)		probably benign	Het
Ighv1-42	A	G	12: 114,900,804 (GRCm39)	S94P	probably damaging	Het
Katnb1	T	A	8: 95,824,787 (GRCm39)	L569Q	probably damaging	Het
Nedd1	C	T	10: 92,534,031 (GRCm39)		probably null	Het
Or2b2	A	G	13: 21,887,243 (GRCm39)	E24G	probably benign	Het
Or8c15	T	A	9: 38,120,997 (GRCm39)	I214N	probably damaging	Het
Pdcd4	G	A	19: 53,917,552 (GRCm39)	R463H	probably benign	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ro60	A	G	1: 143,637,120 (GRCm39)	V364A	probably benign	Het
Rps19bp1	A	G	15: 80,145,532 (GRCm39)	M84T	probably benign	Het
Sass6	A	T	3: 116,398,847 (GRCm39)	D43V	probably damaging	Het
Senp6	G	A	9: 80,029,290 (GRCm39)	S551N	probably benign	Het
Sh2d2a	A	G	3: 87,759,432 (GRCm39)	E273G	probably damaging	Het
Slc16a14	T	C	1: 84,889,908 (GRCm39)		probably benign	Het
Smcr8	C	T	11: 60,674,671 (GRCm39)	R816C	possibly damaging	Het
Trappc8	A	T	18: 20,970,103 (GRCm39)	N962K	probably benign	Het
Ubap2	G	T	4: 41,195,998 (GRCm39)	P961T	probably damaging	Het
Vmn1r23	A	G	6: 57,903,061 (GRCm39)	V239A	possibly damaging	Het
Vps41	T	C	13: 18,966,897 (GRCm39)		probably benign	Het
Vwf	A	T	6: 125,568,128 (GRCm39)	D341V	probably damaging	Het
Zfp618	C	T	4: 62,998,133 (GRCm39)	P45L	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
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
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