Incidental Mutation 'R9752:Trpc6'
| ID |
732580 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9752 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 8643641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 475
(S475R)
|
| 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: S475R
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: S475R
| 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: S475R
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano2 |
C |
T |
6: 125,840,499 (GRCm39) |
T390I |
probably damaging |
Het |
| Cc2d2b |
T |
C |
19: 40,781,271 (GRCm39) |
V772A |
probably damaging |
Het |
| Cd109 |
A |
G |
9: 78,614,834 (GRCm39) |
I1294V |
probably benign |
Het |
| Cic |
A |
G |
7: 24,971,403 (GRCm39) |
E378G |
probably damaging |
Het |
| Clhc1 |
C |
T |
11: 29,507,778 (GRCm39) |
P175L |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,760,009 (GRCm39) |
E783G |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,488,019 (GRCm39) |
Y546H |
probably damaging |
Het |
| Cog7 |
C |
A |
7: 121,580,639 (GRCm39) |
|
probably null |
Het |
| Cr2 |
T |
C |
1: 194,823,575 (GRCm39) |
T1008A |
probably benign |
Het |
| Diaph1 |
T |
C |
18: 38,036,124 (GRCm39) |
T196A |
unknown |
Het |
| Entr1 |
T |
C |
2: 26,276,990 (GRCm39) |
N247D |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,108,467 (GRCm39) |
D165V |
probably damaging |
Het |
| Fstl1 |
T |
G |
16: 37,649,534 (GRCm39) |
N249K |
probably damaging |
Het |
| Gatad2a |
A |
G |
8: 70,364,839 (GRCm39) |
V515A |
probably benign |
Het |
| Gbp2b |
A |
T |
3: 142,313,917 (GRCm39) |
D399V |
probably benign |
Het |
| Gna14 |
G |
A |
19: 16,586,781 (GRCm39) |
V319I |
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,871,256 (GRCm39) |
D661G |
possibly damaging |
Het |
| Gtf3c4 |
C |
A |
2: 28,724,126 (GRCm39) |
L535F |
probably damaging |
Het |
| Haus8 |
A |
C |
8: 71,715,731 (GRCm39) |
S36A |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,472,415 (GRCm39) |
A2717V |
possibly damaging |
Het |
| Hsf5 |
C |
T |
11: 87,513,709 (GRCm39) |
T258M |
probably benign |
Het |
| Ifi209 |
A |
T |
1: 173,472,235 (GRCm39) |
I359F |
probably damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,324,360 (GRCm39) |
V302A |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Itgav |
T |
A |
2: 83,600,451 (GRCm39) |
|
probably null |
Het |
| Kcp |
A |
T |
6: 29,497,754 (GRCm39) |
D502E |
probably damaging |
Het |
| Kif15 |
T |
C |
9: 122,824,890 (GRCm39) |
|
probably null |
Het |
| Lipo2 |
C |
G |
19: 33,723,221 (GRCm39) |
K189N |
possibly damaging |
Het |
| Lrch4 |
T |
A |
5: 137,636,218 (GRCm39) |
S390T |
probably benign |
Het |
| Mast2 |
G |
T |
4: 116,179,508 (GRCm39) |
H389N |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,174,147 (GRCm39) |
Y1784H |
possibly damaging |
Het |
| Micu3 |
A |
G |
8: 40,833,751 (GRCm39) |
K462E |
possibly damaging |
Het |
| Mrps10 |
T |
C |
17: 47,683,572 (GRCm39) |
|
probably null |
Het |
| Msh6 |
T |
C |
17: 88,293,963 (GRCm39) |
L906P |
probably damaging |
Het |
| Nphp4 |
A |
G |
4: 152,621,737 (GRCm39) |
E531G |
probably benign |
Het |
| Nrp2 |
A |
T |
1: 62,851,726 (GRCm39) |
Y825F |
probably benign |
Het |
| Ntn1 |
C |
T |
11: 68,276,712 (GRCm39) |
V79M |
possibly damaging |
Het |
| Nxnl2 |
A |
G |
13: 51,325,507 (GRCm39) |
D50G |
probably damaging |
Het |
| Or1e16 |
T |
A |
11: 73,286,479 (GRCm39) |
Y123F |
possibly damaging |
Het |
| Or2t26 |
T |
C |
11: 49,039,681 (GRCm39) |
M199T |
probably benign |
Het |
| Or52h9 |
A |
T |
7: 104,202,530 (GRCm39) |
I135F |
possibly damaging |
Het |
| Or52r1c |
T |
A |
7: 102,735,669 (GRCm39) |
C310S |
probably benign |
Het |
| Or6c219 |
T |
C |
10: 129,780,990 (GRCm39) |
R314G |
probably benign |
Het |
| Or7e176 |
G |
A |
9: 20,171,204 (GRCm39) |
V23I |
probably benign |
Het |
| Ppp1r42 |
A |
G |
1: 10,073,674 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3a |
A |
T |
12: 101,008,763 (GRCm39) |
N692K |
probably benign |
Het |
| Prr11 |
T |
C |
11: 86,994,416 (GRCm39) |
T77A |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,228,068 (GRCm39) |
N371K |
probably benign |
Het |
| Rrn3 |
A |
G |
16: 13,631,095 (GRCm39) |
I644V |
probably benign |
Het |
| Scd4 |
T |
C |
19: 44,322,475 (GRCm39) |
S23P |
probably benign |
Het |
| Slc26a2 |
T |
A |
18: 61,335,010 (GRCm39) |
S148C |
probably benign |
Het |
| Slc7a8 |
T |
C |
14: 54,995,931 (GRCm39) |
E157G |
probably benign |
Het |
| Spi1 |
A |
G |
2: 90,943,666 (GRCm39) |
H70R |
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tlr4 |
A |
G |
4: 66,757,912 (GRCm39) |
N235S |
probably benign |
Het |
| Usp34 |
C |
T |
11: 23,409,182 (GRCm39) |
P2674L |
probably benign |
Het |
| Usp48 |
G |
A |
4: 137,341,137 (GRCm39) |
G379D |
probably damaging |
Het |
| Vkorc1l1 |
T |
A |
5: 130,011,078 (GRCm39) |
C97* |
probably null |
Het |
| Wfikkn2 |
T |
C |
11: 94,129,211 (GRCm39) |
E310G |
probably benign |
Het |
| Zfp266 |
T |
A |
9: 20,411,496 (GRCm39) |
N227I |
probably benign |
Het |
| Zfp335 |
C |
T |
2: 164,749,347 (GRCm39) |
|
probably null |
Het |
| Zfp677 |
T |
A |
17: 21,618,511 (GRCm39) |
C523S |
probably damaging |
Het |
| Zrsr2 |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
X: 162,719,750 (GRCm39) |
|
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 |
|
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 |
|
Z1176:Trpc6
|
UTSW |
9 |
8,655,214 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTTAGTACATAGGAGAAAATGGCC -3'
(R):5'- TGATTCCTGCTGCATACATTTG -3'
Sequencing Primer
(F):5'- TGTGTATGACTATTTAGGAGAGAGAG -3'
(R):5'- TGTATGACTGATCATATGCAACAATC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation