Incidental Mutation 'R7142:Trpc6'
ID |
553478 |
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 |
045250-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7142 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 8653017 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 608
(R608*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057965
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
|
AlphaFold |
Q61143 |
Predicted Effect |
probably null
Transcript: ENSMUST00000050433
AA Change: R608*
|
SMART Domains |
Protein: ENSMUSP00000057965 Gene: ENSMUSG00000031997 AA Change: R608*
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
AA Change: R530*
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (63/64) |
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 |
2610008E11Rik |
T |
A |
10: 78,903,446 (GRCm39) |
H290L |
probably damaging |
Het |
Abca1 |
T |
A |
4: 53,082,050 (GRCm39) |
S737C |
probably damaging |
Het |
Abca14 |
G |
C |
7: 119,850,406 (GRCm39) |
V753L |
possibly damaging |
Het |
Adgrl1 |
C |
T |
8: 84,663,829 (GRCm39) |
H1099Y |
probably benign |
Het |
Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
Aldh1l1 |
G |
A |
6: 90,540,398 (GRCm39) |
D228N |
probably damaging |
Het |
Cacna1e |
G |
T |
1: 154,288,230 (GRCm39) |
Q1883K |
probably damaging |
Het |
Caskin2 |
A |
G |
11: 115,697,562 (GRCm39) |
Y125H |
probably benign |
Het |
Ccdc85a |
A |
T |
11: 28,527,192 (GRCm39) |
Y139N |
probably damaging |
Het |
Cd93 |
C |
T |
2: 148,283,725 (GRCm39) |
W540* |
probably null |
Het |
Cdh3 |
G |
A |
8: 107,271,860 (GRCm39) |
|
probably null |
Het |
Chmp2b |
G |
A |
16: 65,343,794 (GRCm39) |
Q88* |
probably null |
Het |
Cpt1a |
T |
C |
19: 3,425,100 (GRCm39) |
M489T |
probably benign |
Het |
Ctsk |
G |
A |
3: 95,414,259 (GRCm39) |
V274M |
possibly damaging |
Het |
Cyp3a44 |
A |
G |
5: 145,714,771 (GRCm39) |
V460A |
probably benign |
Het |
Cypt4 |
C |
T |
9: 24,536,740 (GRCm39) |
R77* |
probably null |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dnah7a |
A |
T |
1: 53,452,927 (GRCm39) |
Y3850* |
probably null |
Het |
Drosha |
A |
T |
15: 12,924,232 (GRCm39) |
T1205S |
possibly damaging |
Het |
Eif3j2 |
T |
C |
18: 43,610,465 (GRCm39) |
E116G |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,213,374 (GRCm39) |
E790G |
probably damaging |
Het |
Fam163b |
C |
T |
2: 27,003,567 (GRCm39) |
R29Q |
probably damaging |
Het |
Fbxo44 |
C |
T |
4: 148,243,269 (GRCm39) |
G50E |
unknown |
Het |
Foxo3 |
T |
C |
10: 42,150,591 (GRCm39) |
|
probably null |
Het |
Gnal |
C |
T |
18: 67,351,599 (GRCm39) |
P386L |
probably damaging |
Het |
Gpc5 |
T |
A |
14: 115,654,615 (GRCm39) |
H478Q |
probably benign |
Het |
Grhl2 |
A |
T |
15: 37,279,826 (GRCm39) |
D178V |
probably benign |
Het |
Gtf2i |
C |
A |
5: 134,273,705 (GRCm39) |
V755L |
possibly damaging |
Het |
Hal |
T |
C |
10: 93,336,513 (GRCm39) |
V414A |
possibly damaging |
Het |
Hmx2 |
T |
C |
7: 131,157,465 (GRCm39) |
V193A |
probably damaging |
Het |
Il17a |
T |
A |
1: 20,802,327 (GRCm39) |
M12K |
probably benign |
Het |
Invs |
T |
A |
4: 48,407,696 (GRCm39) |
I557N |
probably damaging |
Het |
Kng1 |
T |
A |
16: 22,898,170 (GRCm39) |
H523Q |
probably benign |
Het |
Lrp4 |
T |
A |
2: 91,325,339 (GRCm39) |
I1388N |
probably damaging |
Het |
Mboat4 |
A |
G |
8: 34,587,291 (GRCm39) |
I63V |
probably benign |
Het |
Mcoln2 |
G |
A |
3: 145,889,324 (GRCm39) |
|
probably null |
Het |
Mgat5 |
A |
T |
1: 127,339,924 (GRCm39) |
D435V |
probably damaging |
Het |
Mri1 |
C |
A |
8: 84,983,753 (GRCm39) |
R46L |
probably damaging |
Het |
Mxra8 |
A |
T |
4: 155,927,519 (GRCm39) |
Y409F |
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,062,901 (GRCm39) |
R720* |
probably null |
Het |
Ofcc1 |
T |
C |
13: 40,157,538 (GRCm39) |
I887V |
probably benign |
Het |
Or5l13 |
T |
C |
2: 87,780,056 (GRCm39) |
I174V |
probably benign |
Het |
Otud4 |
T |
A |
8: 80,399,391 (GRCm39) |
|
probably null |
Het |
P3h1 |
T |
A |
4: 119,104,358 (GRCm39) |
D626E |
probably benign |
Het |
Pde2a |
A |
T |
7: 101,153,857 (GRCm39) |
D485V |
probably damaging |
Het |
Phldb2 |
G |
A |
16: 45,577,539 (GRCm39) |
R1129* |
probably null |
Het |
Pkn1 |
T |
C |
8: 84,420,596 (GRCm39) |
E10G |
possibly damaging |
Het |
Psd2 |
A |
G |
18: 36,113,097 (GRCm39) |
D264G |
possibly damaging |
Het |
Psg29 |
A |
G |
7: 16,944,546 (GRCm39) |
D352G |
probably damaging |
Het |
Rgs14 |
T |
C |
13: 55,527,417 (GRCm39) |
S218P |
probably damaging |
Het |
Sec14l2 |
T |
C |
11: 4,048,379 (GRCm39) |
T380A |
probably benign |
Het |
Septin12 |
T |
C |
16: 4,806,226 (GRCm39) |
T312A |
unknown |
Het |
Skint5 |
A |
T |
4: 113,428,791 (GRCm39) |
V1075E |
unknown |
Het |
Ston2 |
A |
G |
12: 91,614,009 (GRCm39) |
S800P |
probably damaging |
Het |
Tmem106b |
A |
G |
6: 13,081,564 (GRCm39) |
N157S |
probably damaging |
Het |
Tmem132b |
G |
A |
5: 125,699,737 (GRCm39) |
G133S |
probably damaging |
Het |
Tmie |
A |
T |
9: 110,699,749 (GRCm39) |
M55K |
possibly damaging |
Het |
Unc93a2 |
G |
A |
17: 7,644,021 (GRCm39) |
T96I |
probably damaging |
Het |
Usp35 |
A |
G |
7: 96,960,754 (GRCm39) |
S891P |
probably damaging |
Het |
Vmn1r178 |
A |
G |
7: 23,593,035 (GRCm39) |
T28A |
probably damaging |
Het |
Wnk1 |
T |
A |
6: 119,926,240 (GRCm39) |
M1324L |
probably benign |
Het |
Wrnip1 |
C |
A |
13: 32,986,616 (GRCm39) |
S132R |
possibly damaging |
Het |
Wsb1 |
T |
C |
11: 79,141,814 (GRCm39) |
K68E |
probably benign |
Het |
Zfp433 |
A |
T |
10: 81,556,040 (GRCm39) |
K181* |
probably null |
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 |
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'- TGAGAAGTTCTTCAGAGCACAAG -3'
(R):5'- ATTCTCTACCATCAGGACCCCG -3'
Sequencing Primer
(F):5'- GTTCTTCAGAGCACAAGGTTTTAC -3'
(R):5'- CCGAGCACCACATACGTTG -3'
|
Posted On |
2019-05-15 |