Incidental Mutation 'R4773:Trpc6'
| ID |
367686 |
| 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 |
042411-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4773 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8609852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 107
(Y107N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
[ENSMUST00000217462]
|
| AlphaFold |
Q61143 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050433
AA Change: Y107N
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: Y107N
| 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: Y107N
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217462
AA Change: Y107N
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.0924 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
100% (89/89) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230009I02Rik |
A |
G |
11: 50,982,089 (GRCm39) |
|
noncoding transcript |
Het |
| Actl7b |
T |
C |
4: 56,740,972 (GRCm39) |
I129V |
probably benign |
Het |
| Adipor2 |
A |
G |
6: 119,336,047 (GRCm39) |
L225P |
probably benign |
Het |
| Arhgap25 |
A |
G |
6: 87,473,053 (GRCm39) |
F35L |
probably benign |
Het |
| Asah2 |
A |
T |
19: 32,030,258 (GRCm39) |
M138K |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,243,905 (GRCm39) |
M1486K |
probably damaging |
Het |
| B4galt4 |
T |
A |
16: 38,572,658 (GRCm39) |
S114R |
probably benign |
Het |
| Brpf3 |
T |
G |
17: 29,040,233 (GRCm39) |
S885A |
probably benign |
Het |
| Cacna1g |
G |
T |
11: 94,302,298 (GRCm39) |
H1944N |
possibly damaging |
Het |
| Cby2 |
T |
A |
14: 75,820,546 (GRCm39) |
Y393F |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,396,245 (GRCm39) |
C712Y |
probably damaging |
Het |
| Ccdc175 |
A |
T |
12: 72,182,822 (GRCm39) |
I399N |
probably damaging |
Het |
| Cct8l1 |
A |
T |
5: 25,722,754 (GRCm39) |
T490S |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Copa |
A |
G |
1: 171,932,787 (GRCm39) |
N371D |
probably damaging |
Het |
| Cpeb1 |
A |
T |
7: 81,005,695 (GRCm39) |
H381Q |
probably benign |
Het |
| Cyp2d40 |
T |
A |
15: 82,645,763 (GRCm39) |
I81F |
possibly damaging |
Het |
| Dscc1 |
A |
T |
15: 54,943,654 (GRCm39) |
D405E |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,672,464 (GRCm39) |
D369G |
probably benign |
Het |
| Exd2 |
T |
C |
12: 80,522,592 (GRCm39) |
V17A |
possibly damaging |
Het |
| Fam111a |
A |
T |
19: 12,565,772 (GRCm39) |
N507I |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,445,038 (GRCm39) |
V719A |
possibly damaging |
Het |
| Fscb |
C |
T |
12: 64,520,464 (GRCm39) |
G334D |
probably damaging |
Het |
| Glud1 |
T |
C |
14: 34,043,782 (GRCm39) |
|
probably null |
Het |
| Gm8126 |
T |
A |
14: 43,119,072 (GRCm39) |
Y180* |
probably null |
Het |
| Grip2 |
G |
A |
6: 91,759,413 (GRCm39) |
P347L |
possibly damaging |
Het |
| H1f3 |
T |
C |
13: 23,739,576 (GRCm39) |
S105P |
probably damaging |
Het |
| H60b |
C |
T |
10: 22,164,644 (GRCm39) |
|
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,755,596 (GRCm39) |
|
probably null |
Het |
| Itga6 |
T |
C |
2: 71,652,788 (GRCm39) |
V217A |
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,503,946 (GRCm39) |
W1083* |
probably null |
Het |
| Limch1 |
A |
T |
5: 67,184,850 (GRCm39) |
D613V |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,349,403 (GRCm39) |
C310S |
probably damaging |
Het |
| Marchf1 |
T |
A |
8: 66,839,876 (GRCm39) |
C220S |
probably benign |
Het |
| Mbd5 |
A |
C |
2: 49,164,623 (GRCm39) |
H308P |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,167,746 (GRCm39) |
D2003G |
probably damaging |
Het |
| Mettl16 |
T |
A |
11: 74,708,127 (GRCm39) |
V442D |
possibly damaging |
Het |
| Mstn |
A |
T |
1: 53,101,267 (GRCm39) |
T115S |
probably benign |
Het |
| Mtcl2 |
G |
T |
2: 156,872,489 (GRCm39) |
Q953K |
probably benign |
Het |
| Nfil3 |
A |
G |
13: 53,122,050 (GRCm39) |
S285P |
probably damaging |
Het |
| Odad4 |
C |
A |
11: 100,440,742 (GRCm39) |
N74K |
probably benign |
Het |
| Or10j3 |
A |
C |
1: 173,031,796 (GRCm39) |
Y291S |
probably damaging |
Het |
| Or51a24 |
A |
G |
7: 103,733,502 (GRCm39) |
S262P |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,552,026 (GRCm39) |
V321A |
probably benign |
Het |
| Pcdha8 |
G |
T |
18: 37,127,626 (GRCm39) |
A703S |
probably damaging |
Het |
| Pcdhb18 |
A |
G |
18: 37,623,507 (GRCm39) |
Y279C |
probably damaging |
Het |
| Pdgfa |
T |
C |
5: 138,979,051 (GRCm39) |
D51G |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,289,292 (GRCm39) |
Y703H |
probably damaging |
Het |
| Pecr |
G |
T |
1: 72,306,594 (GRCm39) |
P229Q |
probably damaging |
Het |
| Phkg1 |
G |
T |
5: 129,902,114 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
A |
T |
15: 89,051,150 (GRCm39) |
H356Q |
probably benign |
Het |
| Polr1b |
T |
C |
2: 128,947,248 (GRCm39) |
I191T |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,049,026 (GRCm39) |
L35P |
possibly damaging |
Het |
| Rasa2 |
C |
T |
9: 96,426,470 (GRCm39) |
G792D |
probably benign |
Het |
| Rps11-ps4 |
T |
C |
12: 51,344,406 (GRCm39) |
|
noncoding transcript |
Het |
| Sema3g |
A |
G |
14: 30,942,666 (GRCm39) |
D89G |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 82,908,219 (GRCm39) |
V108A |
probably damaging |
Het |
| Smg9 |
T |
A |
7: 24,107,019 (GRCm39) |
M221K |
possibly damaging |
Het |
| Sos1 |
A |
G |
17: 80,705,660 (GRCm39) |
S1304P |
probably damaging |
Het |
| Sqle |
C |
A |
15: 59,189,688 (GRCm39) |
A110E |
possibly damaging |
Het |
| Stab2 |
G |
A |
10: 86,743,235 (GRCm39) |
Q1154* |
probably null |
Het |
| Taf4b |
A |
G |
18: 14,937,577 (GRCm39) |
T217A |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,072,760 (GRCm39) |
V2769A |
probably benign |
Het |
| Tmem156 |
A |
T |
5: 65,237,502 (GRCm39) |
C53S |
probably damaging |
Het |
| Tmtc3 |
T |
A |
10: 100,293,001 (GRCm39) |
K452N |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tph1 |
T |
C |
7: 46,306,376 (GRCm39) |
E195G |
probably damaging |
Het |
| Tsga10 |
G |
A |
1: 37,874,606 (GRCm39) |
T93I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,571,778 (GRCm39) |
N26372Y |
probably damaging |
Het |
| Tubd1 |
T |
C |
11: 86,446,128 (GRCm39) |
L256P |
possibly damaging |
Het |
| Txnrd2 |
C |
G |
16: 18,259,569 (GRCm39) |
A126G |
probably benign |
Het |
| Vmn1r210 |
T |
G |
13: 23,011,374 (GRCm39) |
K304T |
probably benign |
Het |
| Vps25 |
T |
C |
11: 101,149,655 (GRCm39) |
S160P |
probably benign |
Het |
| Vrk3 |
T |
A |
7: 44,424,900 (GRCm39) |
D438E |
probably benign |
Het |
| Vwa5b1 |
A |
G |
4: 138,309,066 (GRCm39) |
L708P |
probably benign |
Het |
| Washc3 |
C |
T |
10: 88,055,124 (GRCm39) |
Q105* |
probably null |
Het |
| Wdr83os |
T |
A |
8: 85,807,410 (GRCm39) |
|
probably benign |
Het |
| Wwc1 |
T |
C |
11: 35,758,123 (GRCm39) |
H741R |
probably benign |
Het |
| Zan |
T |
C |
5: 137,434,575 (GRCm39) |
|
probably benign |
Het |
| Zdhhc4 |
A |
T |
5: 143,311,931 (GRCm39) |
L14I |
possibly damaging |
Het |
| Zfp568 |
T |
A |
7: 29,697,195 (GRCm39) |
D38E |
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 |
|
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'- TCTGTCTTATTGCAGCCGGG -3'
(R):5'- TTCAGCAAAAGCTGGATGGTTG -3'
Sequencing Primer
(F):5'- TTATTGCAGCCGGGGTAATGAAAAC -3'
(R):5'- CCGTACATAACCTTTACTAATGGC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation