Incidental Mutation 'R6210:Trpc6'
ID |
503408 |
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 |
044344-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6210 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 8656731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 719
(D719E)
|
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: D797E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000057965 Gene: ENSMUSG00000031997 AA Change: D797E
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: D719E
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215328
|
Meta Mutation Damage Score |
0.0820 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
95% (52/55) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
A |
18: 10,706,032 (GRCm39) |
I94F |
probably damaging |
Het |
Bbox1 |
A |
T |
2: 110,100,422 (GRCm39) |
D258E |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,378,827 (GRCm39) |
|
probably null |
Het |
Ccdc127 |
T |
C |
13: 74,505,040 (GRCm39) |
V196A |
probably benign |
Het |
Cd101 |
A |
T |
3: 100,925,959 (GRCm39) |
D253E |
probably damaging |
Het |
Ceacam15 |
T |
C |
7: 16,407,214 (GRCm39) |
Y101C |
probably damaging |
Het |
Cep135 |
C |
T |
5: 76,772,570 (GRCm39) |
L652F |
probably benign |
Het |
Col5a1 |
G |
T |
2: 27,922,633 (GRCm39) |
V234L |
probably benign |
Het |
Cxcr6 |
T |
C |
9: 123,639,073 (GRCm39) |
S25P |
possibly damaging |
Het |
Dctn4 |
C |
T |
18: 60,679,865 (GRCm39) |
Q258* |
probably null |
Het |
Fmnl2 |
A |
T |
2: 53,020,457 (GRCm39) |
N1067I |
possibly damaging |
Het |
Frrs1 |
A |
T |
3: 116,672,080 (GRCm39) |
K59N |
probably benign |
Het |
Gpr157 |
T |
C |
4: 150,186,055 (GRCm39) |
Y206H |
probably damaging |
Het |
Hephl1 |
A |
G |
9: 15,001,860 (GRCm39) |
Y161H |
possibly damaging |
Het |
Hinfp |
C |
T |
9: 44,210,169 (GRCm39) |
|
probably null |
Het |
Igf2r |
A |
T |
17: 12,933,838 (GRCm39) |
N805K |
probably damaging |
Het |
Ilrun |
A |
T |
17: 27,986,960 (GRCm39) |
D255E |
probably benign |
Het |
Itga3 |
T |
C |
11: 94,959,717 (GRCm39) |
|
probably benign |
Het |
Itga6 |
A |
G |
2: 71,664,351 (GRCm39) |
|
probably null |
Het |
Kcnip1 |
G |
A |
11: 33,595,600 (GRCm39) |
T30I |
possibly damaging |
Het |
Lig4 |
T |
C |
8: 10,021,585 (GRCm39) |
T732A |
probably benign |
Het |
Lmod3 |
T |
A |
6: 97,224,262 (GRCm39) |
T520S |
probably damaging |
Het |
Megf8 |
G |
A |
7: 25,043,145 (GRCm39) |
V1356I |
possibly damaging |
Het |
Mical3 |
C |
T |
6: 121,017,478 (GRCm39) |
|
probably null |
Het |
Msi1 |
T |
C |
5: 115,573,535 (GRCm39) |
I8T |
probably damaging |
Het |
Mug4-ps |
A |
T |
6: 121,927,276 (GRCm39) |
|
noncoding transcript |
Het |
Myo1f |
T |
A |
17: 33,820,044 (GRCm39) |
I783N |
probably damaging |
Het |
Nr6a1 |
A |
C |
2: 38,619,509 (GRCm39) |
I462S |
probably damaging |
Het |
Or2t48 |
C |
T |
11: 58,420,090 (GRCm39) |
A241T |
probably damaging |
Het |
Or8k23 |
A |
G |
2: 86,186,702 (GRCm39) |
V8A |
probably benign |
Het |
Pah |
C |
A |
10: 87,419,423 (GRCm39) |
Q449K |
probably benign |
Het |
Pced1a |
A |
G |
2: 130,263,839 (GRCm39) |
V271A |
probably damaging |
Het |
Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
Psg21 |
A |
G |
7: 18,386,270 (GRCm39) |
Y239H |
probably damaging |
Het |
Ptprt |
T |
C |
2: 162,109,949 (GRCm39) |
Y180C |
probably damaging |
Het |
Raet1d |
T |
A |
10: 22,246,849 (GRCm39) |
I59N |
probably damaging |
Het |
Rfx1 |
T |
C |
8: 84,819,647 (GRCm39) |
L653P |
probably damaging |
Het |
Rnase2a |
A |
G |
14: 51,493,131 (GRCm39) |
V78A |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Serbp1 |
T |
C |
6: 67,249,851 (GRCm39) |
|
probably benign |
Het |
Tlr1 |
A |
T |
5: 65,082,629 (GRCm39) |
H649Q |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ttc21b |
A |
T |
2: 66,066,698 (GRCm39) |
S318R |
probably benign |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Uhmk1 |
T |
C |
1: 170,039,806 (GRCm39) |
Q187R |
probably damaging |
Het |
Ung |
C |
T |
5: 114,269,438 (GRCm39) |
A50V |
probably benign |
Het |
Upk3bl |
C |
T |
5: 136,088,674 (GRCm39) |
Q103* |
probably null |
Het |
Usp17le |
C |
A |
7: 104,418,350 (GRCm39) |
C264F |
probably damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,448,758 (GRCm39) |
N140Y |
probably damaging |
Het |
Vmn2r84 |
C |
T |
10: 130,222,114 (GRCm39) |
C702Y |
probably damaging |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
Zfp748 |
G |
A |
13: 67,688,923 (GRCm39) |
P779L |
possibly 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 |
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'- AGTTTGCAAGGGCCAAATTG -3'
(R):5'- TGAGGCTCCAAATGCTCTCAC -3'
Sequencing Primer
(F):5'- CCAAATTGTGGTTTTCCTACTTTGAG -3'
(R):5'- CAAATGCTCTCACTTTCAGTACAAG -3'
|
Posted On |
2018-02-27 |