Incidental Mutation 'R2164:Trpc6'
| ID |
235361 |
| 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 |
040167-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2164 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to AT
at 8610466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
[ENSMUST00000217462]
|
| AlphaFold |
Q61143 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050433
|
| SMART Domains |
Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
| 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 null
Transcript: ENSMUST00000214596
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217462
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
CTGTAGGAAATCTTCAATGT |
CTGT |
11: 110,101,019 (GRCm39) |
|
probably null |
Het |
| Adcy8 |
C |
T |
15: 64,792,783 (GRCm39) |
G58S |
probably benign |
Het |
| Adgra2 |
T |
A |
8: 27,604,232 (GRCm39) |
L24* |
probably null |
Het |
| Ampd2 |
C |
A |
3: 107,992,685 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
T |
G |
6: 118,502,752 (GRCm39) |
E806A |
probably damaging |
Het |
| Apol9b |
A |
G |
15: 77,619,639 (GRCm39) |
D145G |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,892,726 (GRCm39) |
M1535K |
probably benign |
Het |
| Atf6 |
A |
G |
1: 170,622,304 (GRCm39) |
M439T |
probably damaging |
Het |
| B3glct |
A |
T |
5: 149,677,621 (GRCm39) |
M417L |
probably damaging |
Het |
| Cep192 |
A |
T |
18: 67,953,431 (GRCm39) |
T483S |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,354,657 (GRCm39) |
E914K |
probably damaging |
Het |
| Chst15 |
C |
T |
7: 131,872,114 (GRCm39) |
A56T |
probably damaging |
Het |
| Col27a1 |
A |
T |
4: 63,143,661 (GRCm39) |
T450S |
probably benign |
Het |
| Cpsf2 |
A |
G |
12: 101,951,594 (GRCm39) |
N177S |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Ctc1 |
C |
T |
11: 68,926,441 (GRCm39) |
A859V |
possibly damaging |
Het |
| Dcakd |
A |
G |
11: 102,888,183 (GRCm39) |
Y134H |
possibly damaging |
Het |
| Dctn3 |
G |
T |
4: 41,723,065 (GRCm39) |
Y22* |
probably null |
Het |
| Dync2h1 |
T |
A |
9: 7,124,797 (GRCm39) |
D2025V |
probably damaging |
Het |
| Dync2li1 |
T |
C |
17: 84,943,702 (GRCm39) |
S92P |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,853,356 (GRCm39) |
V81A |
probably damaging |
Het |
| Espl1 |
C |
T |
15: 102,228,023 (GRCm39) |
R1625C |
probably damaging |
Het |
| Fam181a |
T |
C |
12: 103,282,785 (GRCm39) |
V230A |
probably benign |
Het |
| Fanci |
T |
A |
7: 79,045,743 (GRCm39) |
D28E |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,195,962 (GRCm39) |
N554S |
unknown |
Het |
| Frem2 |
T |
C |
3: 53,444,751 (GRCm39) |
Y2460C |
probably damaging |
Het |
| Fscb |
G |
A |
12: 64,520,567 (GRCm39) |
P300S |
probably damaging |
Het |
| Gm28042 |
A |
G |
2: 119,867,229 (GRCm39) |
D438G |
probably benign |
Het |
| Ldaf1 |
A |
G |
7: 119,719,462 (GRCm39) |
E157G |
possibly damaging |
Het |
| Map1b |
C |
T |
13: 99,565,846 (GRCm39) |
V2292M |
unknown |
Het |
| Nbas |
A |
G |
12: 13,380,647 (GRCm39) |
D635G |
possibly damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,414,095 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
T |
1: 62,783,514 (GRCm39) |
E205V |
probably damaging |
Het |
| Pcdhb3 |
A |
T |
18: 37,435,239 (GRCm39) |
T402S |
possibly damaging |
Het |
| Phc1 |
T |
C |
6: 122,299,296 (GRCm39) |
N638D |
possibly damaging |
Het |
| Plcb1 |
A |
G |
2: 135,188,250 (GRCm39) |
N781S |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,523,071 (GRCm39) |
D1164E |
probably damaging |
Het |
| Proser2 |
T |
A |
2: 6,105,506 (GRCm39) |
R353W |
possibly damaging |
Het |
| Prxl2b |
T |
G |
4: 154,982,606 (GRCm39) |
Y56S |
probably damaging |
Het |
| Ptges |
T |
A |
2: 30,782,708 (GRCm39) |
T115S |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,436,138 (GRCm39) |
D833V |
probably damaging |
Het |
| Pum1 |
T |
A |
4: 130,455,394 (GRCm39) |
L173* |
probably null |
Het |
| Pum1 |
G |
T |
4: 130,455,395 (GRCm39) |
L269F |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,838,470 (GRCm39) |
Y106C |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,598,697 (GRCm39) |
|
probably benign |
Het |
| Rdh1 |
A |
G |
10: 127,596,041 (GRCm39) |
T79A |
possibly damaging |
Het |
| Relb |
A |
C |
7: 19,347,686 (GRCm39) |
|
probably null |
Het |
| Rnf122 |
G |
A |
8: 31,602,192 (GRCm39) |
W6* |
probably null |
Het |
| Rnf31 |
A |
G |
14: 55,829,994 (GRCm39) |
E138G |
possibly damaging |
Het |
| Scaf8 |
G |
A |
17: 3,247,485 (GRCm39) |
R936Q |
probably damaging |
Het |
| Scube3 |
T |
A |
17: 28,385,108 (GRCm39) |
V686D |
possibly damaging |
Het |
| Snrnp27 |
A |
T |
6: 86,653,196 (GRCm39) |
C141S |
probably benign |
Het |
| Spns2 |
C |
T |
11: 72,349,497 (GRCm39) |
V252M |
possibly damaging |
Het |
| Tomm40l |
C |
T |
1: 171,047,703 (GRCm39) |
S220N |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,237 (GRCm39) |
D423G |
probably damaging |
Het |
| Tut4 |
G |
A |
4: 108,360,226 (GRCm39) |
R481Q |
possibly damaging |
Het |
| Uba5 |
A |
T |
9: 103,937,442 (GRCm39) |
M89K |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,163,718 (GRCm39) |
D628G |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,904 (GRCm39) |
L819P |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,816,518 (GRCm39) |
D354E |
possibly damaging |
Het |
| Xrn1 |
A |
G |
9: 95,888,873 (GRCm39) |
E984G |
possibly damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,191,557 (GRCm39) |
V223A |
probably benign |
Het |
| Zfp592 |
T |
C |
7: 80,691,186 (GRCm39) |
S1122P |
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 |
|
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'- TACAGAATGCAGCCAGAAGC -3'
(R):5'- CATGCACAGTAATTAGCACATCATG -3'
Sequencing Primer
(F):5'- GCAGAAGCATGATTCCTTCAG -3'
(R):5'- TGGAAACACACCTTGGCTTTAC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation