Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01299:Trpc6'

75200

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 #

IGL01299

Quality Score

Status

Chromosome

Chromosomal Location

8544143-8680742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8653062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 623 (Q623K)

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: Q623K

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

SMART Domains

Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: Q623K

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: Q545K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,248,743 (GRCm39)	T2830I	probably benign	Het
Akap1	C	T	11: 88,735,080 (GRCm39)		probably null	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cdk12	C	T	11: 98,101,272 (GRCm39)	R377C	unknown	Het
Cox6b1	G	A	7: 30,316,553 (GRCm39)	T81I	possibly damaging	Het
Creb1	T	C	1: 64,609,284 (GRCm39)		probably benign	Het
Cyp4f40	G	T	17: 32,886,948 (GRCm39)	A140S	probably benign	Het
Dus4l	A	G	12: 31,690,823 (GRCm39)	M276T	probably benign	Het
Dync1h1	G	T	12: 110,580,541 (GRCm39)	R134L	probably benign	Het
Fmo2	A	T	1: 162,705,599 (GRCm39)	N413K	probably benign	Het
Gabrp	T	C	11: 33,504,476 (GRCm39)	T280A	probably damaging	Het
Golph3l	A	G	3: 95,524,588 (GRCm39)	T217A	possibly damaging	Het
Mtr	T	C	13: 12,240,536 (GRCm39)		probably benign	Het
Nbea	T	G	3: 55,598,315 (GRCm39)	D2398A	probably damaging	Het
Or3a4	T	A	11: 73,945,301 (GRCm39)	I95F	probably benign	Het
Phyh	T	A	2: 4,935,604 (GRCm39)	W193R	probably null	Het
Rab36	A	G	10: 74,884,298 (GRCm39)	Q82R	probably damaging	Het
Ranbp2	T	C	10: 58,328,639 (GRCm39)	V2846A	probably damaging	Het
Rprd2	G	A	3: 95,683,859 (GRCm39)	S374L	probably damaging	Het
Slc9a3	A	G	13: 74,308,382 (GRCm39)	R462G	probably benign	Het
Slitrk3	T	C	3: 72,956,349 (GRCm39)	N808D	probably benign	Het
Tbck	A	T	3: 132,430,638 (GRCm39)	I345F	probably damaging	Het
Tor2a	T	A	2: 32,649,558 (GRCm39)	V146D	probably damaging	Het
Ube2q1	A	G	3: 89,688,681 (GRCm39)	S192G	probably damaging	Het
Vnn1	T	A	10: 23,770,949 (GRCm39)	L59Q	probably 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
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
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

2013-10-07