Incidental Mutation 'IGL02735:Trpc6'
ID |
305625 |
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 # |
IGL02735
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8655339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 723
(I723T)
|
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: I723T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000057965 Gene: ENSMUSG00000031997 AA Change: I723T
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: I645T
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
Acss1 |
A |
T |
2: 150,480,387 (GRCm39) |
V228E |
probably damaging |
Het |
Ampd1 |
T |
A |
3: 102,992,693 (GRCm39) |
M145K |
probably damaging |
Het |
Ankhd1 |
G |
A |
18: 36,781,599 (GRCm39) |
S2217N |
probably benign |
Het |
Asph |
T |
A |
4: 9,598,759 (GRCm39) |
D211V |
probably damaging |
Het |
Cd55b |
A |
T |
1: 130,316,413 (GRCm39) |
W379R |
probably damaging |
Het |
Derl3 |
A |
G |
10: 75,730,950 (GRCm39) |
T201A |
probably damaging |
Het |
Efcab6 |
A |
G |
15: 83,783,898 (GRCm39) |
L1008P |
probably damaging |
Het |
Eif4g3 |
A |
G |
4: 137,853,522 (GRCm39) |
I363V |
probably benign |
Het |
Heatr5a |
A |
G |
12: 51,961,804 (GRCm39) |
F1058L |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,522,583 (GRCm39) |
M3439K |
probably benign |
Het |
Ift140 |
C |
A |
17: 25,253,009 (GRCm39) |
|
probably benign |
Het |
Itgad |
A |
G |
7: 127,792,888 (GRCm39) |
Y832C |
probably damaging |
Het |
Itgb2 |
T |
A |
10: 77,385,833 (GRCm39) |
D265E |
possibly damaging |
Het |
Kif19a |
A |
T |
11: 114,676,393 (GRCm39) |
E449V |
probably damaging |
Het |
Krt40 |
T |
C |
11: 99,429,461 (GRCm39) |
E291G |
probably damaging |
Het |
Lama2 |
T |
C |
10: 26,980,124 (GRCm39) |
N1897S |
probably damaging |
Het |
Lepr |
A |
G |
4: 101,639,835 (GRCm39) |
Y767C |
probably damaging |
Het |
Lrrtm4 |
A |
G |
6: 80,786,031 (GRCm39) |
H546R |
probably benign |
Het |
Marchf6 |
A |
G |
15: 31,486,266 (GRCm39) |
S362P |
probably benign |
Het |
Med12l |
A |
G |
3: 59,001,067 (GRCm39) |
Y734C |
probably damaging |
Het |
Mrps18a |
C |
T |
17: 46,433,725 (GRCm39) |
R74C |
probably damaging |
Het |
Mvk |
A |
G |
5: 114,588,880 (GRCm39) |
E174G |
probably benign |
Het |
Naip2 |
A |
G |
13: 100,296,722 (GRCm39) |
S1105P |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,221,624 (GRCm39) |
M468V |
probably benign |
Het |
Obscn |
T |
C |
11: 58,984,175 (GRCm39) |
E1760G |
probably damaging |
Het |
Pcsk5 |
C |
A |
19: 17,652,832 (GRCm39) |
G285W |
probably damaging |
Het |
Pgpep1l |
A |
G |
7: 67,886,721 (GRCm39) |
I196T |
probably benign |
Het |
Phf14 |
T |
C |
6: 11,987,611 (GRCm39) |
M630T |
probably benign |
Het |
Plod2 |
T |
C |
9: 92,477,442 (GRCm39) |
|
probably benign |
Het |
Poldip2 |
G |
A |
11: 78,403,162 (GRCm39) |
A9T |
probably benign |
Het |
Pou2f1 |
A |
G |
1: 165,703,396 (GRCm39) |
S718P |
probably damaging |
Het |
Pramel34 |
G |
A |
5: 93,786,503 (GRCm39) |
P89S |
possibly damaging |
Het |
Ptpre |
A |
T |
7: 135,269,296 (GRCm39) |
Y246F |
probably damaging |
Het |
Pudp |
T |
C |
18: 50,701,403 (GRCm39) |
H110R |
probably benign |
Het |
Scaf4 |
C |
T |
16: 90,042,403 (GRCm39) |
G646E |
unknown |
Het |
Sec16a |
T |
A |
2: 26,318,149 (GRCm39) |
|
probably benign |
Het |
Serpina5 |
A |
G |
12: 104,070,116 (GRCm39) |
T338A |
probably benign |
Het |
Shisa5 |
T |
G |
9: 108,885,080 (GRCm39) |
F118V |
probably damaging |
Het |
Slc6a21 |
G |
A |
7: 44,936,061 (GRCm39) |
|
probably benign |
Het |
Sprtn |
T |
A |
8: 125,630,126 (GRCm39) |
V473E |
probably benign |
Het |
Styxl1 |
A |
G |
5: 135,787,996 (GRCm39) |
I165T |
probably damaging |
Het |
Tal2 |
T |
A |
4: 53,785,906 (GRCm39) |
I29N |
probably damaging |
Het |
Tas2r134 |
T |
C |
2: 51,517,839 (GRCm39) |
I106T |
probably damaging |
Het |
Tmem259 |
G |
A |
10: 79,814,973 (GRCm39) |
T217I |
probably damaging |
Het |
Vmn1r211 |
A |
T |
13: 23,036,418 (GRCm39) |
V83D |
probably damaging |
Het |
Vmn2r103 |
G |
T |
17: 20,032,510 (GRCm39) |
M761I |
probably benign |
Het |
Ybey |
A |
T |
10: 76,304,160 (GRCm39) |
I14N |
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 |
IGL02657:Trpc6
|
APN |
9 |
8,643,602 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |