Incidental Mutation 'R0334:Trpc6'
ID |
26128 |
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 |
038543-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0334 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8610344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 271
(S271P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150193
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
[ENSMUST00000217462]
|
AlphaFold |
Q61143 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050433
AA Change: S271P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057965 Gene: ENSMUSG00000031997 AA Change: S271P
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: S271P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217462
AA Change: S271P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.9172 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.6%
|
Validation Efficiency |
99% (68/69) |
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 |
Aggf1 |
T |
C |
13: 95,508,105 (GRCm39) |
N87S |
probably benign |
Het |
Ap2b1 |
T |
C |
11: 83,258,700 (GRCm39) |
|
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,468,029 (GRCm39) |
Y1724H |
probably damaging |
Het |
Arhgef10l |
G |
A |
4: 140,311,237 (GRCm39) |
Q243* |
probably null |
Het |
Atp8a2 |
A |
T |
14: 59,928,961 (GRCm39) |
F1031Y |
probably damaging |
Het |
Bmp8b |
A |
G |
4: 123,008,553 (GRCm39) |
|
probably null |
Het |
Brinp2 |
G |
T |
1: 158,123,155 (GRCm39) |
T37K |
probably benign |
Het |
Bsph1 |
T |
A |
7: 13,184,864 (GRCm39) |
L9* |
probably null |
Het |
C6 |
T |
G |
15: 4,784,849 (GRCm39) |
N238K |
probably benign |
Het |
Cbs |
T |
C |
17: 31,838,130 (GRCm39) |
D373G |
probably damaging |
Het |
Clec4a3 |
T |
C |
6: 122,946,329 (GRCm39) |
F191S |
possibly damaging |
Het |
Cpz |
A |
G |
5: 35,661,025 (GRCm39) |
V530A |
probably damaging |
Het |
Ctsc |
G |
T |
7: 87,927,550 (GRCm39) |
S47I |
possibly damaging |
Het |
Cyp7b1 |
T |
G |
3: 18,157,960 (GRCm39) |
Y53S |
probably damaging |
Het |
Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
Defb4 |
T |
C |
8: 19,251,220 (GRCm39) |
I29T |
probably benign |
Het |
Disc1 |
A |
T |
8: 125,987,836 (GRCm39) |
|
probably null |
Het |
Dnah2 |
A |
G |
11: 69,327,662 (GRCm39) |
M3429T |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,472,213 (GRCm39) |
I3518N |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 31,090,325 (GRCm39) |
H4609L |
probably damaging |
Het |
Evi5 |
C |
A |
5: 107,968,401 (GRCm39) |
C182F |
probably damaging |
Het |
Fam149b |
G |
A |
14: 20,413,492 (GRCm39) |
R237H |
probably damaging |
Het |
Fut8 |
T |
A |
12: 77,440,536 (GRCm39) |
D174E |
possibly damaging |
Het |
Ghr |
T |
C |
15: 3,370,580 (GRCm39) |
|
probably benign |
Het |
Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
Gpr176 |
T |
C |
2: 118,110,189 (GRCm39) |
S357G |
probably benign |
Het |
Grwd1 |
A |
T |
7: 45,476,601 (GRCm39) |
|
probably null |
Het |
H2-T24 |
A |
G |
17: 36,325,772 (GRCm39) |
V273A |
possibly damaging |
Het |
Hdac4 |
A |
C |
1: 91,883,760 (GRCm39) |
|
probably benign |
Het |
Herc3 |
A |
G |
6: 58,895,802 (GRCm39) |
T1017A |
probably damaging |
Het |
Hsd11b1 |
T |
C |
1: 192,924,476 (GRCm39) |
|
probably benign |
Het |
Igsf23 |
T |
C |
7: 19,675,678 (GRCm39) |
S143G |
probably benign |
Het |
Kbtbd12 |
T |
A |
6: 88,594,888 (GRCm39) |
Y314F |
probably damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,252,508 (GRCm39) |
|
probably null |
Het |
Kdm5b |
A |
G |
1: 134,532,260 (GRCm39) |
I479M |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,058,068 (GRCm39) |
T600A |
probably damaging |
Het |
Mrgprb2 |
A |
C |
7: 48,202,077 (GRCm39) |
I216S |
probably damaging |
Het |
Muc21 |
A |
G |
17: 35,933,614 (GRCm39) |
|
probably benign |
Het |
Myo1g |
A |
G |
11: 6,461,084 (GRCm39) |
|
probably benign |
Het |
Nrxn3 |
T |
C |
12: 89,780,412 (GRCm39) |
|
probably null |
Het |
Or2ag2 |
A |
G |
7: 106,485,622 (GRCm39) |
V134A |
probably benign |
Het |
Or8b54 |
A |
T |
9: 38,686,535 (GRCm39) |
|
probably null |
Het |
Or8g26 |
A |
G |
9: 39,095,980 (GRCm39) |
I169V |
probably benign |
Het |
Pdia5 |
A |
T |
16: 35,284,760 (GRCm39) |
S66T |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,062,206 (GRCm39) |
E2604G |
probably damaging |
Het |
Plekha6 |
G |
T |
1: 133,209,918 (GRCm39) |
A654S |
probably benign |
Het |
Pnpla2 |
G |
A |
7: 141,039,433 (GRCm39) |
|
probably null |
Het |
Pramel19 |
T |
C |
4: 101,798,781 (GRCm39) |
F251L |
probably benign |
Het |
Prb1c |
T |
A |
6: 132,341,021 (GRCm39) |
Q17L |
unknown |
Het |
Prkdc |
A |
G |
16: 15,554,663 (GRCm39) |
D2128G |
probably benign |
Het |
Rabggta |
A |
T |
14: 55,958,268 (GRCm39) |
L131Q |
probably damaging |
Het |
Rbks |
A |
T |
5: 31,781,863 (GRCm39) |
Y312* |
probably null |
Het |
Rnf139 |
A |
G |
15: 58,771,322 (GRCm39) |
Y449C |
probably damaging |
Het |
Sanbr |
A |
G |
11: 23,567,129 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,524,931 (GRCm39) |
V1058A |
possibly damaging |
Het |
Sema3a |
A |
T |
5: 13,607,268 (GRCm39) |
N321I |
probably damaging |
Het |
Slit3 |
T |
A |
11: 35,469,928 (GRCm39) |
V310E |
probably damaging |
Het |
Slitrk5 |
T |
C |
14: 111,918,256 (GRCm39) |
S627P |
probably benign |
Het |
Stat2 |
T |
A |
10: 128,113,736 (GRCm39) |
F172I |
probably damaging |
Het |
Tchh |
C |
A |
3: 93,352,923 (GRCm39) |
R788S |
unknown |
Het |
Tnks |
T |
A |
8: 35,320,413 (GRCm39) |
K753* |
probably null |
Het |
Trank1 |
T |
A |
9: 111,194,421 (GRCm39) |
V815D |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,222,008 (GRCm39) |
I2915N |
probably damaging |
Het |
Trpm5 |
T |
C |
7: 142,640,613 (GRCm39) |
Q213R |
probably benign |
Het |
Ulk3 |
C |
T |
9: 57,501,510 (GRCm39) |
|
probably benign |
Het |
Usp31 |
T |
C |
7: 121,258,185 (GRCm39) |
D694G |
probably damaging |
Het |
Wnt3a |
A |
G |
11: 59,147,144 (GRCm39) |
S181P |
probably damaging |
Het |
Yipf3 |
T |
C |
17: 46,559,238 (GRCm39) |
F22S |
possibly damaging |
Het |
Zbtb40 |
A |
T |
4: 136,713,867 (GRCm39) |
H1094Q |
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 |
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 |
|
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'- ATGTGACCCCAATCATTCTCGCTG -3'
(R):5'- GCACATCATGGAAACACACCTTGGC -3'
Sequencing Primer
(F):5'- CTGCACATTGCCAGGAATATG -3'
(R):5'- CAGAACTTTGCTGAAACCTGG -3'
|
Posted On |
2013-04-16 |