Incidental Mutation 'R8183:Trpc6'
ID |
634734 |
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 |
067781-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8183 (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 C
at 8653150 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 652
(F652S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057965
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
|
AlphaFold |
Q61143 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050433
AA Change: F652S
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000057965 Gene: ENSMUSG00000031997 AA Change: F652S
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: F574S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (51/51) |
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 |
Ago2 |
T |
A |
15: 72,991,337 (GRCm39) |
K534* |
probably null |
Het |
Art1 |
A |
T |
7: 101,756,633 (GRCm39) |
I275F |
probably damaging |
Het |
Atp1a2 |
T |
C |
1: 172,116,918 (GRCm39) |
N233S |
probably damaging |
Het |
B3gnt2 |
T |
A |
11: 22,786,373 (GRCm39) |
I272L |
probably benign |
Het |
Bpifa1 |
A |
G |
2: 153,988,039 (GRCm39) |
Q194R |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,768,879 (GRCm39) |
E563G |
probably benign |
Het |
Clns1a |
A |
G |
7: 97,354,888 (GRCm39) |
Y78C |
probably damaging |
Het |
Col20a1 |
T |
C |
2: 180,640,207 (GRCm39) |
V483A |
|
Het |
Col3a1 |
C |
G |
1: 45,373,970 (GRCm39) |
P621R |
unknown |
Het |
Cst9 |
G |
A |
2: 148,678,634 (GRCm39) |
R88H |
possibly damaging |
Het |
Cxxc1 |
T |
C |
18: 74,353,428 (GRCm39) |
Y513H |
probably damaging |
Het |
Dcdc2a |
T |
C |
13: 25,291,633 (GRCm39) |
F206S |
possibly damaging |
Het |
Dgkz |
C |
A |
2: 91,769,937 (GRCm39) |
G576C |
probably damaging |
Het |
Dpy19l3 |
A |
G |
7: 35,394,814 (GRCm39) |
F575L |
probably damaging |
Het |
Ftcd |
T |
A |
10: 76,411,541 (GRCm39) |
M1K |
probably null |
Het |
Gtf2ird1 |
T |
C |
5: 134,386,689 (GRCm39) |
D1044G |
unknown |
Het |
Gzmc |
A |
T |
14: 56,470,164 (GRCm39) |
M111K |
probably damaging |
Het |
Hpse |
T |
A |
5: 100,832,984 (GRCm39) |
Y437F |
probably damaging |
Het |
Ifi203 |
A |
G |
1: 173,756,266 (GRCm39) |
S506P |
unknown |
Het |
Igsf10 |
A |
T |
3: 59,238,036 (GRCm39) |
I715K |
probably benign |
Het |
Ints9 |
T |
C |
14: 65,273,902 (GRCm39) |
V569A |
probably damaging |
Het |
Itih3 |
A |
G |
14: 30,631,433 (GRCm39) |
F821S |
probably benign |
Het |
Kcnh7 |
T |
C |
2: 62,533,321 (GRCm39) |
H1186R |
probably damaging |
Het |
Krt33a |
A |
G |
11: 99,905,575 (GRCm39) |
|
probably null |
Het |
Lonrf1 |
A |
T |
8: 36,689,819 (GRCm39) |
M718K |
possibly damaging |
Het |
Mefv |
C |
T |
16: 3,526,446 (GRCm39) |
R756K |
possibly damaging |
Het |
Metap1d |
T |
A |
2: 71,337,207 (GRCm39) |
F40Y |
possibly damaging |
Het |
Myh1 |
A |
T |
11: 67,092,832 (GRCm39) |
D42V |
possibly damaging |
Het |
Myo15b |
T |
G |
11: 115,773,843 (GRCm39) |
|
probably null |
Het |
Nsd1 |
T |
C |
13: 55,460,186 (GRCm39) |
S2241P |
probably damaging |
Het |
Or10q12 |
T |
A |
19: 13,746,086 (GRCm39) |
Y127N |
probably damaging |
Het |
Osbpl3 |
C |
A |
6: 50,280,089 (GRCm39) |
R710L |
probably benign |
Het |
Osbpl6 |
C |
T |
2: 76,415,404 (GRCm39) |
R589C |
probably damaging |
Het |
Pam |
T |
C |
1: 97,762,199 (GRCm39) |
T795A |
probably benign |
Het |
Patj |
A |
C |
4: 98,562,466 (GRCm39) |
E1534D |
probably damaging |
Het |
Plscr5 |
A |
G |
9: 92,080,655 (GRCm39) |
Q47R |
probably benign |
Het |
Ppil1 |
A |
T |
17: 29,481,053 (GRCm39) |
|
probably null |
Het |
Sec23b |
G |
T |
2: 144,401,189 (GRCm39) |
V17L |
probably benign |
Het |
Serpina3j |
C |
A |
12: 104,284,754 (GRCm39) |
Y310* |
probably null |
Het |
Slc6a7 |
T |
C |
18: 61,140,448 (GRCm39) |
S195G |
probably null |
Het |
Snrpn |
A |
G |
7: 59,634,830 (GRCm39) |
Y168H |
probably damaging |
Het |
Tmprss15 |
T |
C |
16: 78,884,400 (GRCm39) |
D94G |
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,558,758 (GRCm39) |
M724K |
probably damaging |
Het |
Trappc11 |
T |
G |
8: 47,982,391 (GRCm39) |
E116A |
possibly damaging |
Het |
Trrap |
T |
G |
5: 144,765,343 (GRCm39) |
S2501A |
probably benign |
Het |
Ubr4 |
T |
G |
4: 139,209,782 (GRCm39) |
S5005A |
unknown |
Het |
Urah |
A |
T |
7: 140,416,707 (GRCm39) |
Q60L |
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,491,147 (GRCm39) |
C367S |
probably damaging |
Het |
Zmym1 |
T |
C |
4: 126,952,649 (GRCm39) |
D44G |
probably benign |
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 |
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'- AAGTGGGACCCTACTGATCC -3'
(R):5'- GCAATCCACTTTAAGATCTCCTTG -3'
Sequencing Primer
(F):5'- GATCATCTCTGAAGGTCTTTATGC -3'
(R):5'- TTTAAGATCTCCTTGTCTTGTTGAC -3'
|
Posted On |
2020-07-13 |