Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00417:Trpc6'

4941

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 #

IGL00417

Quality Score

Status

Chromosome

Chromosomal Location

8544142-8680741 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8680438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 889 (D889V)

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: D889V

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

SMART Domains

Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: D889V

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: D811V

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,423,759	I39M	probably benign	Het
Acoxl	G	A	2: 127,978,804	C92Y	probably damaging	Het
Actl6b	G	T	5: 137,554,637	R76L	probably damaging	Het
Ank	T	C	15: 27,544,351	M66T	possibly damaging	Het
C6	C	T	15: 4,759,967	A298V	possibly damaging	Het
Clip4	A	T	17: 71,849,942	N591Y	probably damaging	Het
Cntnap5b	T	C	1: 100,050,754	I165T	probably damaging	Het
Dennd1b	G	A	1: 139,062,940	R214H	probably damaging	Het
Eri2	G	A	7: 119,787,741	T185I	probably benign	Het
Fbxo33	A	G	12: 59,202,670	V476A	probably damaging	Het
Fer1l4	G	A	2: 156,019,920	R1826*	probably null	Het
Fyb	A	T	15: 6,580,777	K277I	probably damaging	Het
Gli3	C	A	13: 15,644,299	H229N	probably damaging	Het
Hmcn1	T	C	1: 150,677,278	I2554V	probably benign	Het
Maml2	A	T	9: 13,621,604		probably benign	Het
Map4k4	T	C	1: 40,014,532	F930L	possibly damaging	Het
Mmadhc	T	C	2: 50,289,031	D125G	probably benign	Het
Nipbl	A	G	15: 8,366,673	S139P	probably damaging	Het
Obscn	A	G	11: 59,006,788	L6647P	unknown	Het
Ppara	C	A	15: 85,801,067	H406N	probably benign	Het
Psg27	T	A	7: 18,561,917	H201L	probably benign	Het
Qser1	A	T	2: 104,786,903	I1188N	probably damaging	Het
Rc3h1	T	C	1: 160,955,981		probably null	Het
Sept2	C	T	1: 93,499,142	H158Y	probably damaging	Het
Snx9	C	A	17: 5,891,897	Q100K	probably benign	Het
Spata5	A	G	3: 37,451,802	I677V	possibly damaging	Het
Thnsl2	G	A	6: 71,131,900	T309I	probably damaging	Het
Thsd7b	A	G	1: 129,595,834	R125G	probably damaging	Het
Tmem62	T	G	2: 121,006,964		probably null	Het
Tnpo3	A	T	6: 29,578,461		probably null	Het
Tubgcp6	C	A	15: 89,104,008	V913L	probably benign	Het
Uox	A	T	3: 146,627,810	M255L	probably benign	Het

Other mutations in Trpc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00469:Trpc6	APN	9	8626701	missense	probably benign
IGL00970:Trpc6	APN	9	8653151	missense	probably damaging	1.00
IGL01299:Trpc6	APN	9	8653061	missense	probably damaging	1.00
IGL01563:Trpc6	APN	9	8656603	missense	probably damaging	1.00
IGL01578:Trpc6	APN	9	8634057	missense	probably damaging	1.00
IGL02657:Trpc6	APN	9	8643601	missense	possibly damaging	0.94
IGL02735:Trpc6	APN	9	8655338	missense	probably damaging	1.00
IGL03102:Trpc6	APN	9	8649301	missense	probably benign	0.07
P0038:Trpc6	UTSW	9	8649511	missense	possibly damaging	0.52
PIT4531001:Trpc6	UTSW	9	8610148	missense	probably benign	0.14
R0100:Trpc6	UTSW	9	8653034	missense	probably damaging	1.00
R0100:Trpc6	UTSW	9	8653034	missense	probably damaging	1.00
R0323:Trpc6	UTSW	9	8610275	missense	probably damaging	1.00
R0323:Trpc6	UTSW	9	8643536	missense	probably damaging	1.00
R0334:Trpc6	UTSW	9	8610343	missense	probably damaging	1.00
R0665:Trpc6	UTSW	9	8634122	missense	probably benign	0.11
R0948:Trpc6	UTSW	9	8610415	missense	possibly damaging	0.60
R1177:Trpc6	UTSW	9	8658304	missense	probably benign	0.04
R1217:Trpc6	UTSW	9	8658286	splice site	probably null
R1445:Trpc6	UTSW	9	8680537	missense	probably benign	0.00
R1452:Trpc6	UTSW	9	8653147	missense	probably damaging	0.99
R1494:Trpc6	UTSW	9	8658304	missense	probably benign	0.04
R1501:Trpc6	UTSW	9	8610169	missense	probably damaging	0.99
R1933:Trpc6	UTSW	9	8656545	missense	probably damaging	1.00
R2112:Trpc6	UTSW	9	8656612	missense	probably damaging	1.00
R2164:Trpc6	UTSW	9	8610465	nonsense	probably null
R2921:Trpc6	UTSW	9	8653033	missense	possibly damaging	0.94
R2995:Trpc6	UTSW	9	8544466	missense	probably benign	0.30
R3821:Trpc6	UTSW	9	8610278	missense	probably damaging	1.00
R3965:Trpc6	UTSW	9	8626621	missense	probably damaging	1.00
R4360:Trpc6	UTSW	9	8610266	missense	probably benign	0.10
R4625:Trpc6	UTSW	9	8677962	missense	probably benign	0.40
R4691:Trpc6	UTSW	9	8652978	missense	probably damaging	1.00
R4736:Trpc6	UTSW	9	8609870	missense	probably damaging	1.00
R4767:Trpc6	UTSW	9	8643686	missense	probably damaging	1.00
R4773:Trpc6	UTSW	9	8609851	missense	possibly damaging	0.78
R4792:Trpc6	UTSW	9	8626614	missense	probably benign	0.00
R5105:Trpc6	UTSW	9	8649470	missense	probably benign
R5319:Trpc6	UTSW	9	8609921	missense	probably damaging	1.00
R5429:Trpc6	UTSW	9	8634074	nonsense	probably null
R5505:Trpc6	UTSW	9	8626735	missense	probably damaging	1.00
R5657:Trpc6	UTSW	9	8609807	missense	probably benign	0.11
R5684:Trpc6	UTSW	9	8653128	missense	probably damaging	1.00
R5722:Trpc6	UTSW	9	8680549	missense	possibly damaging	0.88
R6210:Trpc6	UTSW	9	8656730	missense	probably benign	0.42
R6284:Trpc6	UTSW	9	8643600	missense	possibly damaging	0.93
R6773:Trpc6	UTSW	9	8634057	missense	probably damaging	1.00
R6874:Trpc6	UTSW	9	8680438	missense	probably damaging	1.00
R7032:Trpc6	UTSW	9	8609950	missense	probably damaging	1.00
R7142:Trpc6	UTSW	9	8653016	nonsense	probably null
R7489:Trpc6	UTSW	9	8656544	missense	probably benign	0.00
R7631:Trpc6	UTSW	9	8626701	missense	probably benign
R7762:Trpc6	UTSW	9	8653149	missense	possibly damaging	0.91
R7872:Trpc6	UTSW	9	8609909	missense	probably damaging	1.00
R7895:Trpc6	UTSW	9	8655218	missense	probably damaging	1.00
R7911:Trpc6	UTSW	9	8656704	missense	probably benign
R8115:Trpc6	UTSW	9	8609981	missense	probably damaging	1.00
R8183:Trpc6	UTSW	9	8653149	missense	possibly damaging	0.91
R8435:Trpc6	UTSW	9	8610440	missense	probably damaging	1.00
R8929:Trpc6	UTSW	9	8643410	intron	probably benign
R9355:Trpc6	UTSW	9	8649472	missense	probably benign
R9511:Trpc6	UTSW	9	8680418	missense	probably benign	0.17
R9572:Trpc6	UTSW	9	8656621	missense	possibly damaging	0.93
R9718:Trpc6	UTSW	9	8634189	missense	probably damaging	1.00
R9752:Trpc6	UTSW	9	8643640	missense	probably benign	0.03
Z1176:Trpc6	UTSW	9	8655213	missense	possibly damaging	0.83

Posted On

2012-04-20