Incidental Mutation 'IGL02657:Trpc6'
| ID |
302388 |
| 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)
|
| Stock # |
IGL02657
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 8643602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 462
(D462E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
|
| AlphaFold |
Q61143 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050433
AA Change: D462E
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: D462E
| 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 |
possibly damaging
Transcript: ENSMUST00000214596
AA Change: D462E
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
G |
A |
11: 117,725,648 (GRCm39) |
V120M |
possibly damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,567,776 (GRCm39) |
L680P |
probably damaging |
Het |
| Alox12 |
A |
T |
11: 70,138,104 (GRCm39) |
D410E |
probably benign |
Het |
| Amt |
T |
A |
9: 108,178,579 (GRCm39) |
V365E |
probably damaging |
Het |
| Ano9 |
A |
G |
7: 140,687,353 (GRCm39) |
S321P |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,479,771 (GRCm39) |
I767F |
probably damaging |
Het |
| Bag1 |
A |
T |
4: 40,936,643 (GRCm39) |
Y338N |
probably benign |
Het |
| Bcr |
T |
A |
10: 74,990,796 (GRCm39) |
D767E |
probably benign |
Het |
| Chfr |
A |
T |
5: 110,302,705 (GRCm39) |
Q350L |
probably damaging |
Het |
| Cops3 |
A |
T |
11: 59,721,043 (GRCm39) |
L124H |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,437,149 (GRCm39) |
Y988H |
probably benign |
Het |
| Dnajc2 |
A |
T |
5: 21,975,479 (GRCm39) |
|
probably benign |
Het |
| Dym |
C |
T |
18: 75,215,527 (GRCm39) |
Q238* |
probably null |
Het |
| Fbn1 |
A |
T |
2: 125,193,945 (GRCm39) |
C1341S |
possibly damaging |
Het |
| Fryl |
G |
T |
5: 73,212,203 (GRCm39) |
N2308K |
probably benign |
Het |
| Gbp2b |
G |
T |
3: 142,309,873 (GRCm39) |
R221L |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,269,251 (GRCm39) |
N8S |
probably benign |
Het |
| Gvin2 |
T |
C |
7: 105,545,972 (GRCm39) |
K2360R |
probably damaging |
Het |
| Hycc2 |
A |
T |
1: 58,574,561 (GRCm39) |
W327R |
probably damaging |
Het |
| Ift52 |
A |
G |
2: 162,887,135 (GRCm39) |
D379G |
probably damaging |
Het |
| Inhbe |
C |
A |
10: 127,186,645 (GRCm39) |
L178F |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,181,212 (GRCm39) |
Y913H |
possibly damaging |
Het |
| Kif21b |
T |
A |
1: 136,099,968 (GRCm39) |
D1507E |
possibly damaging |
Het |
| Lnx2 |
A |
G |
5: 146,964,984 (GRCm39) |
V413A |
probably damaging |
Het |
| Lrrc40 |
C |
A |
3: 157,742,410 (GRCm39) |
F16L |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 19,432,581 (GRCm39) |
K99E |
probably damaging |
Het |
| Me3 |
A |
G |
7: 89,495,461 (GRCm39) |
I357M |
probably benign |
Het |
| Med30 |
A |
G |
15: 52,582,761 (GRCm39) |
Y66C |
probably benign |
Het |
| Mief2 |
A |
T |
11: 60,621,783 (GRCm39) |
S118C |
probably damaging |
Het |
| Mylip |
A |
G |
13: 45,544,722 (GRCm39) |
S49G |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,528,972 (GRCm39) |
D107V |
probably damaging |
Het |
| Nvl |
C |
A |
1: 180,934,541 (GRCm39) |
V655F |
probably damaging |
Het |
| Olfml2b |
C |
T |
1: 170,508,645 (GRCm39) |
T501I |
probably benign |
Het |
| Ormdl2 |
T |
C |
10: 128,656,186 (GRCm39) |
I40V |
probably benign |
Het |
| Pde6b |
G |
T |
5: 108,568,142 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
A |
C |
12: 55,720,292 (GRCm39) |
L1785W |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,341,078 (GRCm39) |
|
probably null |
Het |
| Sema3c |
A |
T |
5: 17,781,866 (GRCm39) |
M1L |
possibly damaging |
Het |
| Sema3c |
T |
A |
5: 17,867,972 (GRCm39) |
Y128N |
probably damaging |
Het |
| Sema4b |
G |
A |
7: 79,866,789 (GRCm39) |
G255D |
probably damaging |
Het |
| Setd1a |
C |
T |
7: 127,394,997 (GRCm39) |
|
probably benign |
Het |
| Sirpb1a |
A |
C |
3: 15,482,111 (GRCm39) |
S72R |
possibly damaging |
Het |
| Slu7 |
T |
A |
11: 43,332,849 (GRCm39) |
|
probably null |
Het |
| Spata19 |
T |
C |
9: 27,309,276 (GRCm39) |
V59A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Suclg1 |
T |
A |
6: 73,237,504 (GRCm39) |
V83E |
probably damaging |
Het |
| Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
| Tap2 |
T |
C |
17: 34,424,432 (GRCm39) |
V55A |
probably damaging |
Het |
| Tekt4 |
T |
C |
17: 25,692,732 (GRCm39) |
I186T |
possibly damaging |
Het |
| Ubqln3 |
T |
G |
7: 103,791,170 (GRCm39) |
T307P |
probably damaging |
Het |
| Vmn1r64 |
A |
T |
7: 5,886,727 (GRCm39) |
I272K |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,166,026 (GRCm39) |
T574A |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,247,859 (GRCm39) |
T1021A |
possibly damaging |
Het |
| Zfp512 |
A |
T |
5: 31,628,501 (GRCm39) |
H159L |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation