Incidental Mutation 'R6874:Trpc6'
| ID |
536316 |
| 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 |
045029-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6874 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8680439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 889
(D889G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
|
| AlphaFold |
Q61143 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050433
AA Change: D889G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: D889G
| 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: D811G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,851,428 (GRCm39) |
D802G |
possibly damaging |
Het |
| Acsl5 |
A |
G |
19: 55,280,295 (GRCm39) |
T523A |
probably damaging |
Het |
| Adamts7 |
A |
T |
9: 90,070,784 (GRCm39) |
D635V |
probably damaging |
Het |
| Akr1c12 |
C |
A |
13: 4,322,959 (GRCm39) |
G217C |
probably benign |
Het |
| Astn1 |
C |
A |
1: 158,491,644 (GRCm39) |
S1007* |
probably null |
Het |
| Cntln |
T |
C |
4: 84,985,996 (GRCm39) |
L988P |
probably damaging |
Het |
| Dcps |
A |
T |
9: 35,087,263 (GRCm39) |
M1K |
probably null |
Het |
| Dnai1 |
T |
A |
4: 41,632,412 (GRCm39) |
L582Q |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,328,732 (GRCm39) |
Q7118L |
probably benign |
Het |
| Ehd2 |
T |
A |
7: 15,684,363 (GRCm39) |
T479S |
probably benign |
Het |
| Fbxl7 |
T |
C |
15: 26,553,028 (GRCm39) |
I80V |
probably benign |
Het |
| Fry |
T |
C |
5: 150,360,768 (GRCm39) |
V125A |
probably benign |
Het |
| Gm12695 |
A |
T |
4: 96,673,306 (GRCm39) |
I31K |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,219,715 (GRCm39) |
E386G |
probably damaging |
Het |
| Helz |
G |
T |
11: 107,554,460 (GRCm39) |
R1219S |
probably damaging |
Het |
| Hes3 |
G |
T |
4: 152,371,695 (GRCm39) |
P85T |
possibly damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,675,822 (GRCm39) |
R44* |
probably null |
Het |
| Igsf9 |
A |
G |
1: 172,322,096 (GRCm39) |
T496A |
probably benign |
Het |
| Irf2bp1 |
G |
T |
7: 18,739,142 (GRCm39) |
A261S |
possibly damaging |
Het |
| Jph2 |
G |
A |
2: 163,181,407 (GRCm39) |
P586S |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,363,031 (GRCm39) |
H175R |
probably benign |
Het |
| Ksr2 |
G |
T |
5: 117,894,401 (GRCm39) |
E847* |
probably null |
Het |
| Lats1 |
T |
A |
10: 7,586,615 (GRCm39) |
Y926N |
probably damaging |
Het |
| Lmbr1 |
A |
T |
5: 29,497,904 (GRCm39) |
L33H |
probably damaging |
Het |
| Lrp10 |
T |
C |
14: 54,705,670 (GRCm39) |
S287P |
possibly damaging |
Het |
| Map3k6 |
G |
A |
4: 132,977,967 (GRCm39) |
E976K |
probably benign |
Het |
| Mfsd6 |
T |
A |
1: 52,699,868 (GRCm39) |
D760V |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,570,065 (GRCm39) |
S818* |
probably null |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Nagpa |
T |
C |
16: 5,013,921 (GRCm39) |
T306A |
probably benign |
Het |
| Nisch |
G |
T |
14: 30,898,641 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,298,964 (GRCm39) |
V1028A |
probably damaging |
Het |
| Nucb1 |
T |
C |
7: 45,152,618 (GRCm39) |
N75S |
probably benign |
Het |
| Or11a4 |
T |
C |
17: 37,536,238 (GRCm39) |
V74A |
probably benign |
Het |
| Or1e1d-ps1 |
T |
G |
11: 73,819,068 (GRCm39) |
M6R |
probably null |
Het |
| Or51a43 |
T |
A |
7: 103,717,396 (GRCm39) |
I281F |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,906,312 (GRCm39) |
Y178F |
probably benign |
Het |
| Or7g19 |
T |
A |
9: 18,856,777 (GRCm39) |
Y278N |
possibly damaging |
Het |
| Or8b57 |
A |
G |
9: 40,004,022 (GRCm39) |
V80A |
probably benign |
Het |
| Or8k24 |
C |
T |
2: 86,215,872 (GRCm39) |
V297I |
possibly damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,993,540 (GRCm39) |
L409S |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,452,923 (GRCm39) |
D3949E |
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,100,592 (GRCm39) |
P2032Q |
probably damaging |
Het |
| Ptms |
T |
C |
6: 124,891,194 (GRCm39) |
|
probably benign |
Het |
| Ptp4a3 |
A |
G |
15: 73,595,259 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,554,460 (GRCm39) |
I88M |
possibly damaging |
Het |
| Radil |
T |
A |
5: 142,492,557 (GRCm39) |
D357V |
probably damaging |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Supt20 |
A |
G |
3: 54,635,175 (GRCm39) |
|
probably null |
Het |
| Thoc5 |
T |
C |
11: 4,851,261 (GRCm39) |
I69T |
probably damaging |
Het |
| Trib2 |
G |
C |
12: 15,865,338 (GRCm39) |
S79W |
probably damaging |
Het |
| Usf3 |
T |
C |
16: 44,040,103 (GRCm39) |
S1528P |
probably benign |
Het |
| Vax1 |
A |
T |
19: 59,156,955 (GRCm39) |
V126E |
unknown |
Het |
| Vgf |
A |
G |
5: 137,060,386 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,376 (GRCm39) |
C746S |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,451,286 (GRCm39) |
T391A |
probably benign |
Het |
| Zfp738 |
C |
A |
13: 67,818,382 (GRCm39) |
E536D |
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 |
|
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 |
|
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'- TGTCCAGAGACTGCATGGTC -3'
(R):5'- TCAGCAATTGTTAGCCTCAGC -3'
Sequencing Primer
(F):5'- TCCAGAGACTGCATGGTCTAGATG -3'
(R):5'- GCAATTGTTAGCCTCAGCAATGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation