Incidental Mutation 'R4736:Trpc6'
ID |
359260 |
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 |
041963-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4736 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8609871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 113
(V113A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
[ENSMUST00000217462]
|
AlphaFold |
Q61143 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050433
AA Change: V113A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000057965 Gene: ENSMUSG00000031997 AA Change: V113A
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: V113A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217462
AA Change: V113A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,774,246 (GRCm39) |
I1145T |
probably damaging |
Het |
Aadat |
T |
C |
8: 60,993,140 (GRCm39) |
V360A |
probably benign |
Het |
Abhd16a |
A |
T |
17: 35,320,859 (GRCm39) |
T436S |
probably benign |
Het |
Acbd5 |
G |
T |
2: 22,989,596 (GRCm39) |
L406F |
probably damaging |
Het |
Agrn |
G |
A |
4: 156,256,858 (GRCm39) |
T1142M |
probably benign |
Het |
Aig1 |
C |
A |
10: 13,677,674 (GRCm39) |
W106L |
probably damaging |
Het |
Akr1d1 |
T |
C |
6: 37,534,535 (GRCm39) |
|
probably null |
Het |
Ap1g1 |
G |
A |
8: 110,581,714 (GRCm39) |
D658N |
possibly damaging |
Het |
Arhgap45 |
A |
G |
10: 79,862,006 (GRCm39) |
Y520C |
probably damaging |
Het |
Arhgap5 |
A |
T |
12: 52,565,860 (GRCm39) |
M944L |
probably benign |
Het |
Asic5 |
C |
T |
3: 81,907,116 (GRCm39) |
T47I |
possibly damaging |
Het |
Cabp5 |
A |
G |
7: 13,134,664 (GRCm39) |
|
probably null |
Het |
Ccr6 |
A |
T |
17: 8,474,896 (GRCm39) |
R34* |
probably null |
Het |
Cdin1 |
A |
G |
2: 115,412,369 (GRCm39) |
I2V |
probably benign |
Het |
Clec4a2 |
T |
C |
6: 123,117,622 (GRCm39) |
I180T |
probably damaging |
Het |
Cmtr1 |
A |
G |
17: 29,919,216 (GRCm39) |
E704G |
possibly damaging |
Het |
Cyth3 |
G |
A |
5: 143,670,234 (GRCm39) |
|
probably null |
Het |
Dbt |
T |
C |
3: 116,332,781 (GRCm39) |
I200T |
probably damaging |
Het |
Dennd6b |
T |
C |
15: 89,069,795 (GRCm39) |
H468R |
probably benign |
Het |
Depdc5 |
A |
G |
5: 33,132,666 (GRCm39) |
M1237V |
probably benign |
Het |
Dpp6 |
A |
G |
5: 27,917,657 (GRCm39) |
Y616C |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,006,862 (GRCm39) |
S3710T |
probably benign |
Het |
Eif4g3 |
T |
A |
4: 137,925,408 (GRCm39) |
S1584T |
probably benign |
Het |
Emc3 |
G |
A |
6: 113,508,310 (GRCm39) |
T45I |
possibly damaging |
Het |
Esf1 |
T |
A |
2: 139,966,891 (GRCm39) |
D685V |
probably damaging |
Het |
Ezr |
A |
G |
17: 7,008,975 (GRCm39) |
S366P |
probably benign |
Het |
Gbe1 |
C |
T |
16: 70,292,141 (GRCm39) |
A491V |
probably damaging |
Het |
Haus6 |
A |
G |
4: 86,518,986 (GRCm39) |
|
probably null |
Het |
Heca |
G |
A |
10: 17,790,935 (GRCm39) |
Q12* |
probably null |
Het |
Hpdl |
T |
C |
4: 116,678,221 (GRCm39) |
N80S |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,249,840 (GRCm39) |
Q2261L |
probably benign |
Het |
Itgae |
G |
T |
11: 73,005,706 (GRCm39) |
R290L |
possibly damaging |
Het |
Kcna10 |
C |
A |
3: 107,102,808 (GRCm39) |
L480I |
probably benign |
Het |
Kif27 |
T |
C |
13: 58,476,785 (GRCm39) |
T622A |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,080,925 (GRCm39) |
N966S |
probably damaging |
Het |
Mdfic |
A |
G |
6: 15,741,019 (GRCm39) |
K38E |
possibly damaging |
Het |
Med25 |
G |
A |
7: 44,541,712 (GRCm39) |
A26V |
probably damaging |
Het |
Mrpl19 |
A |
T |
6: 81,941,329 (GRCm39) |
S77R |
probably damaging |
Het |
Mtcl2 |
T |
A |
2: 156,862,474 (GRCm39) |
D1485V |
probably damaging |
Het |
Mybpc2 |
T |
C |
7: 44,161,971 (GRCm39) |
D493G |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,131,746 (GRCm39) |
T69A |
probably benign |
Het |
Myo16 |
G |
T |
8: 10,423,527 (GRCm39) |
G288W |
probably damaging |
Het |
Myo9b |
T |
C |
8: 71,809,236 (GRCm39) |
L1815P |
probably damaging |
Het |
Myom2 |
T |
A |
8: 15,131,271 (GRCm39) |
L323Q |
probably damaging |
Het |
Naip1 |
T |
C |
13: 100,581,034 (GRCm39) |
D71G |
possibly damaging |
Het |
Nktr |
T |
A |
9: 121,578,805 (GRCm39) |
|
probably benign |
Het |
Nol10 |
A |
G |
12: 17,405,288 (GRCm39) |
K88E |
probably damaging |
Het |
Nol4 |
T |
C |
18: 22,852,050 (GRCm39) |
D505G |
probably damaging |
Het |
Nynrin |
T |
A |
14: 56,101,454 (GRCm39) |
N374K |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,954,362 (GRCm39) |
L3740Q |
probably damaging |
Het |
Or5g23 |
T |
C |
2: 85,438,327 (GRCm39) |
H309R |
probably benign |
Het |
Otub2 |
T |
A |
12: 103,359,103 (GRCm39) |
L64Q |
probably benign |
Het |
Pgm5 |
G |
A |
19: 24,812,169 (GRCm39) |
A121V |
probably damaging |
Het |
Pi4ka |
A |
T |
16: 17,195,039 (GRCm39) |
Y120N |
probably benign |
Het |
Rpl36al |
G |
A |
12: 69,229,732 (GRCm39) |
A60V |
possibly damaging |
Het |
Rspo4 |
T |
C |
2: 151,685,054 (GRCm39) |
Y21H |
probably benign |
Het |
Scube2 |
A |
G |
7: 109,430,412 (GRCm39) |
V455A |
probably benign |
Het |
Serpina1f |
T |
C |
12: 103,659,805 (GRCm39) |
D159G |
probably damaging |
Het |
Sf1 |
A |
G |
19: 6,415,694 (GRCm39) |
D11G |
probably damaging |
Het |
Siglecg |
T |
C |
7: 43,067,332 (GRCm39) |
F633S |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,067,173 (GRCm39) |
S89P |
possibly damaging |
Het |
Slc22a13 |
T |
C |
9: 119,022,698 (GRCm39) |
E501G |
probably damaging |
Het |
Slc44a3 |
A |
G |
3: 121,303,855 (GRCm39) |
S294P |
probably damaging |
Het |
Smad3 |
T |
G |
9: 63,664,842 (GRCm39) |
K40Q |
probably damaging |
Het |
Stt3a |
T |
A |
9: 36,661,008 (GRCm39) |
M268L |
probably benign |
Het |
Taf4 |
A |
T |
2: 179,566,287 (GRCm39) |
V817E |
probably damaging |
Het |
Tgfbr1 |
A |
G |
4: 47,383,835 (GRCm39) |
T58A |
probably benign |
Het |
Ttll13 |
T |
A |
7: 79,898,024 (GRCm39) |
|
probably null |
Het |
Uba7 |
T |
C |
9: 107,857,364 (GRCm39) |
L742P |
probably benign |
Het |
Ulk2 |
A |
G |
11: 61,724,261 (GRCm39) |
L174P |
probably damaging |
Het |
Unc5c |
A |
T |
3: 141,522,692 (GRCm39) |
Y706F |
probably benign |
Het |
Unc80 |
A |
T |
1: 66,688,831 (GRCm39) |
|
probably null |
Het |
Usp34 |
T |
A |
11: 23,343,749 (GRCm39) |
|
probably null |
Het |
Vmn1r71 |
A |
T |
7: 10,481,791 (GRCm39) |
V233D |
possibly damaging |
Het |
Xpo6 |
T |
C |
7: 125,739,755 (GRCm39) |
K439R |
probably benign |
Het |
Xrn1 |
G |
T |
9: 95,915,689 (GRCm39) |
G1271C |
probably damaging |
Het |
Yes1 |
A |
T |
5: 32,818,121 (GRCm39) |
E386V |
probably damaging |
Het |
Zfp759 |
C |
A |
13: 67,287,408 (GRCm39) |
H320N |
probably damaging |
Het |
Zfp990 |
A |
T |
4: 145,263,512 (GRCm39) |
H170L |
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 |
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'- TCTTATTGCAGCCGGGGTAATG -3'
(R):5'- CAGCAAAAGCTGGATGGTTG -3'
Sequencing Primer
(F):5'- TTATTGCAGCCGGGGTAATGAAAAC -3'
(R):5'- CCGTACATAACCTTTACTAATGGC -3'
|
Posted On |
2015-11-11 |