Incidental Mutation 'R1494:Trpc6'
ID |
163820 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trpc6
|
Ensembl Gene |
ENSMUSG00000031997 |
Gene Name |
transient receptor potential cation channel, subfamily C, member 6 |
Synonyms |
mtrp6, Trrp6 |
MMRRC Submission |
039545-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1494 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 8658305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Lysine
at position 725
(R725K)
|
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: R803K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000057965 Gene: ENSMUSG00000031997 AA Change: R803K
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 benign
Transcript: ENSMUST00000214596
AA Change: R725K
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215328
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.3%
|
Validation Efficiency |
97% (57/59) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
A |
G |
17: 48,400,991 (GRCm39) |
E92G |
probably benign |
Het |
Abca13 |
C |
T |
11: 9,416,429 (GRCm39) |
Q4064* |
probably null |
Het |
Abca14 |
G |
A |
7: 119,815,524 (GRCm39) |
M257I |
probably benign |
Het |
Acsm2 |
T |
A |
7: 119,174,855 (GRCm39) |
C207S |
probably damaging |
Het |
Actr3 |
A |
G |
1: 125,344,018 (GRCm39) |
I67T |
probably benign |
Het |
Adcy7 |
T |
C |
8: 89,046,835 (GRCm39) |
V606A |
probably benign |
Het |
Ahnak2 |
G |
A |
12: 112,751,570 (GRCm39) |
S54F |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,870,388 (GRCm39) |
S848P |
probably damaging |
Het |
Atg3 |
C |
T |
16: 44,992,123 (GRCm39) |
|
probably benign |
Het |
Atp8b1 |
T |
A |
18: 64,697,597 (GRCm39) |
S416C |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 142,987,072 (GRCm39) |
|
probably benign |
Het |
Capn11 |
A |
T |
17: 45,954,735 (GRCm39) |
V134E |
probably damaging |
Het |
Ccnd3 |
A |
G |
17: 47,909,033 (GRCm39) |
|
probably null |
Het |
Chaf1b |
T |
A |
16: 93,684,998 (GRCm39) |
V149E |
probably damaging |
Het |
Col5a2 |
T |
A |
1: 45,542,074 (GRCm39) |
M1L |
unknown |
Het |
Copa |
T |
C |
1: 171,931,694 (GRCm39) |
I315T |
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,318,077 (GRCm39) |
M353V |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,160,942 (GRCm39) |
M828V |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,232,761 (GRCm39) |
K1080* |
probably null |
Het |
Dock6 |
A |
G |
9: 21,726,038 (GRCm39) |
V1424A |
probably benign |
Het |
Foxa1 |
T |
C |
12: 57,588,984 (GRCm39) |
D412G |
probably damaging |
Het |
Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
Galnt9 |
T |
A |
5: 110,736,196 (GRCm39) |
S171T |
probably damaging |
Het |
Glt6d1 |
A |
G |
2: 25,684,260 (GRCm39) |
Y249H |
probably damaging |
Het |
Gm37240 |
A |
T |
3: 84,434,998 (GRCm39) |
Y104N |
probably damaging |
Het |
Gpx8 |
C |
T |
13: 113,182,149 (GRCm39) |
E95K |
possibly damaging |
Het |
Grm1 |
T |
C |
10: 10,565,450 (GRCm39) |
T953A |
probably benign |
Het |
Helz |
T |
C |
11: 107,494,889 (GRCm39) |
|
probably benign |
Het |
Hif3a |
T |
C |
7: 16,788,647 (GRCm39) |
Y108C |
probably damaging |
Het |
Kcnj13 |
A |
T |
1: 87,316,939 (GRCm39) |
L58Q |
probably damaging |
Het |
Mfsd14b |
A |
T |
13: 65,243,485 (GRCm39) |
V53D |
probably damaging |
Het |
Mrps7 |
G |
C |
11: 115,494,952 (GRCm39) |
|
probably benign |
Het |
Mug1 |
G |
A |
6: 121,856,259 (GRCm39) |
G1013D |
probably damaging |
Het |
Or52h7 |
T |
A |
7: 104,214,038 (GRCm39) |
Y203* |
probably null |
Het |
Or6c8 |
A |
T |
10: 128,915,484 (GRCm39) |
M116K |
probably damaging |
Het |
Pax6 |
T |
C |
2: 105,521,955 (GRCm39) |
I19T |
probably benign |
Het |
Pde8b |
G |
A |
13: 95,184,304 (GRCm39) |
R416C |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Pygl |
G |
A |
12: 70,246,504 (GRCm39) |
R348W |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,731,309 (GRCm39) |
D1874V |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sncaip |
T |
C |
18: 53,001,958 (GRCm39) |
S160P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,133,719 (GRCm39) |
V79A |
probably damaging |
Het |
Sptlc3 |
A |
T |
2: 139,431,480 (GRCm39) |
Y334F |
possibly damaging |
Het |
Supt16 |
A |
G |
14: 52,409,916 (GRCm39) |
Y764H |
probably benign |
Het |
Syne3 |
A |
T |
12: 104,921,841 (GRCm39) |
V438E |
possibly damaging |
Het |
Tagap1 |
T |
C |
17: 7,224,210 (GRCm39) |
D162G |
probably damaging |
Het |
Terb1 |
T |
C |
8: 105,225,122 (GRCm39) |
|
probably benign |
Het |
Themis3 |
C |
A |
17: 66,866,949 (GRCm39) |
R97L |
probably benign |
Het |
Tnk1 |
T |
A |
11: 69,747,372 (GRCm39) |
E86D |
possibly damaging |
Het |
Tnpo3 |
A |
G |
6: 29,557,043 (GRCm39) |
L53P |
probably damaging |
Het |
Ttll11 |
T |
G |
2: 35,685,391 (GRCm39) |
T566P |
probably damaging |
Het |
Unc5c |
A |
T |
3: 141,533,310 (GRCm39) |
T779S |
possibly damaging |
Het |
Zfp42 |
A |
G |
8: 43,748,638 (GRCm39) |
C288R |
possibly damaging |
Het |
Zfp763 |
G |
A |
17: 33,240,477 (GRCm39) |
T52I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATGTCCAAGAACTTGCCAAAAGGAAG -3'
(R):5'- GTGCCTCACCACCCATCAGTC -3'
Sequencing Primer
(F):5'- TTGCCAAAAGGAAGGCTCAAAAAG -3'
(R):5'- ggagttacaaaaggttgtggg -3'
|
Posted On |
2014-03-28 |