Incidental Mutation 'R9511:Trpc6'
| ID |
718171 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R9511 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8680419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 882
(E882D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
|
| AlphaFold |
Q61143 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050433
AA Change: E882D
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: E882D
| 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: E804D
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (69/70) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,445,848 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,278,130 (GRCm39) |
S3103R |
probably benign |
Het |
| Alg9 |
A |
C |
9: 50,717,525 (GRCm39) |
Y436S |
probably damaging |
Het |
| Ankar |
G |
A |
1: 72,719,161 (GRCm39) |
R563C |
probably benign |
Het |
| Ankrd34a |
C |
A |
3: 96,505,401 (GRCm39) |
R202S |
probably benign |
Het |
| Art4 |
T |
A |
6: 136,831,613 (GRCm39) |
N176I |
possibly damaging |
Het |
| Bivm |
A |
G |
1: 44,182,250 (GRCm39) |
E486G |
possibly damaging |
Het |
| Ccdc168 |
T |
G |
1: 44,098,854 (GRCm39) |
D748A |
probably benign |
Het |
| Ccdc3 |
C |
A |
2: 5,143,090 (GRCm39) |
Q116K |
probably damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,261,372 (GRCm39) |
P1656S |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,034,677 (GRCm39) |
D661G |
probably damaging |
Het |
| Chek1 |
T |
C |
9: 36,624,747 (GRCm39) |
N368S |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,878,352 (GRCm39) |
F3924L |
probably damaging |
Het |
| Dusp7 |
T |
C |
9: 106,248,125 (GRCm39) |
I251T |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,090,650 (GRCm39) |
W988R |
probably damaging |
Het |
| Dzip1l |
T |
C |
9: 99,519,710 (GRCm39) |
V79A |
possibly damaging |
Het |
| Ebf1 |
A |
G |
11: 44,815,393 (GRCm39) |
I344V |
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,776,823 (GRCm39) |
E336G |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,034,802 (GRCm39) |
L2818P |
probably damaging |
Het |
| Gjb3 |
T |
C |
4: 127,220,131 (GRCm39) |
S134G |
probably damaging |
Het |
| Gm10647 |
T |
C |
9: 66,705,756 (GRCm39) |
F108L |
unknown |
Het |
| Gm19410 |
A |
T |
8: 36,257,848 (GRCm39) |
D762V |
probably damaging |
Het |
| Gper1 |
A |
G |
5: 139,412,138 (GRCm39) |
K161R |
probably benign |
Het |
| Grin1 |
A |
G |
2: 25,187,426 (GRCm39) |
M628T |
probably damaging |
Het |
| Gsdmc |
A |
T |
15: 63,649,897 (GRCm39) |
D331E |
probably benign |
Het |
| Haus3 |
C |
A |
5: 34,325,571 (GRCm39) |
W29C |
probably damaging |
Het |
| Il10ra |
T |
C |
9: 45,167,690 (GRCm39) |
E289G |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,361,793 (GRCm39) |
T1133A |
possibly damaging |
Het |
| Ksr1 |
G |
A |
11: 78,924,094 (GRCm39) |
T458M |
possibly damaging |
Het |
| Mc5r |
T |
A |
18: 68,472,565 (GRCm39) |
M308K |
possibly damaging |
Het |
| Mis18a |
T |
C |
16: 90,518,525 (GRCm39) |
S146G |
possibly damaging |
Het |
| Mrpl50 |
G |
A |
4: 49,514,501 (GRCm39) |
R57* |
probably null |
Het |
| Mtfmt |
C |
T |
9: 65,343,147 (GRCm39) |
R18C |
probably benign |
Het |
| Nanos1 |
T |
A |
19: 60,745,413 (GRCm39) |
I237N |
probably damaging |
Het |
| Ncor1 |
TGC |
TGCGGC |
11: 62,324,449 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,400,555 (GRCm39) |
E450D |
probably damaging |
Het |
| Nek10 |
C |
A |
14: 14,828,511 (GRCm38) |
T111K |
probably benign |
Het |
| Nipal2 |
T |
C |
15: 34,584,833 (GRCm39) |
Y245C |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,473,406 (GRCm39) |
D399E |
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,429,738 (GRCm39) |
S378G |
probably damaging |
Het |
| Or5b102 |
T |
C |
19: 13,041,119 (GRCm39) |
S115P |
probably damaging |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pex16 |
A |
T |
2: 92,209,559 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
T |
15: 76,058,897 (GRCm39) |
I3680N |
probably damaging |
Het |
| Plin3 |
A |
T |
17: 56,591,225 (GRCm39) |
V185E |
probably damaging |
Het |
| Prex1 |
T |
A |
2: 166,413,481 (GRCm39) |
D1512V |
probably damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,792,913 (GRCm39) |
S355T |
probably benign |
Het |
| Ranbp3l |
A |
G |
15: 9,041,991 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,351,611 (GRCm39) |
I790T |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,499,943 (GRCm39) |
F340L |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,828,916 (GRCm39) |
T341A |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,721,921 (GRCm39) |
Y374H |
probably damaging |
Het |
| Slitrk3 |
T |
G |
3: 72,958,272 (GRCm39) |
S167R |
possibly damaging |
Het |
| Smchd1 |
G |
A |
17: 71,750,899 (GRCm39) |
H340Y |
possibly damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,666,521 (GRCm39) |
R129Q |
probably benign |
Het |
| Sox9 |
A |
G |
11: 112,676,001 (GRCm39) |
T397A |
possibly damaging |
Het |
| Tnpo1 |
C |
A |
13: 99,003,621 (GRCm39) |
R245L |
possibly damaging |
Het |
| Traip |
T |
A |
9: 107,838,785 (GRCm39) |
M183K |
probably damaging |
Het |
| Uba6 |
C |
A |
5: 86,288,219 (GRCm39) |
G491V |
probably damaging |
Het |
| Uqcrfs1 |
A |
T |
13: 30,729,037 (GRCm39) |
V65E |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,668,128 (GRCm39) |
D113G |
probably damaging |
Het |
| Wdr76 |
C |
T |
2: 121,372,976 (GRCm39) |
T503M |
probably damaging |
Het |
| Zfp27 |
T |
C |
7: 29,593,641 (GRCm39) |
T775A |
possibly damaging |
Het |
| Zfp518b |
A |
T |
5: 38,829,395 (GRCm39) |
V870E |
possibly damaging |
Het |
| Zfp932 |
T |
A |
5: 110,155,177 (GRCm39) |
H63Q |
possibly damaging |
Het |
| Zkscan6 |
C |
A |
11: 65,712,817 (GRCm39) |
T250N |
probably damaging |
Het |
| Zmat2 |
A |
T |
18: 36,930,958 (GRCm39) |
K161N |
possibly damaging |
Het |
| Zyg11a |
A |
G |
4: 108,062,420 (GRCm39) |
L127P |
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 |
|
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 |
|
|
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'- TCCAGAGACTGCATGGTCTAG -3'
(R):5'- TATGCACTTCTGAGGGGCTC -3'
Sequencing Primer
(F):5'- GACTGCATGGTCTAGATGAAACATTG -3'
(R):5'- CTGAGGGGCTCTGCTCTATC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation