Incidental Mutation 'R1452:Trpc6'
| ID |
161079 |
| 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 |
039507-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1452 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8653148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 573
(M573I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
|
| AlphaFold |
Q61143 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050433
AA Change: M651I
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: M651I
| 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: M573I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215328
|
| Meta Mutation Damage Score |
0.4344 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.5%
|
| Validation Efficiency |
99% (70/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,655,015 (GRCm39) |
I1446M |
probably benign |
Het |
| Acaca |
T |
A |
11: 84,185,885 (GRCm39) |
|
probably benign |
Het |
| Adgre4 |
A |
T |
17: 56,091,996 (GRCm39) |
E85D |
probably benign |
Het |
| Akt3 |
A |
T |
1: 176,958,633 (GRCm39) |
Y26N |
possibly damaging |
Het |
| Arl15 |
T |
C |
13: 114,104,319 (GRCm39) |
V132A |
probably benign |
Het |
| Atp6v1h |
A |
G |
1: 5,168,360 (GRCm39) |
|
probably benign |
Het |
| Atrip |
T |
A |
9: 108,901,727 (GRCm39) |
D110V |
probably damaging |
Het |
| Bahcc1 |
T |
G |
11: 120,173,065 (GRCm39) |
|
probably benign |
Het |
| Cd53 |
C |
T |
3: 106,676,275 (GRCm39) |
G31S |
probably damaging |
Het |
| Cdk14 |
T |
C |
5: 4,938,927 (GRCm39) |
S404G |
possibly damaging |
Het |
| Cers3 |
A |
T |
7: 66,433,152 (GRCm39) |
K156N |
probably damaging |
Het |
| Colgalt2 |
C |
A |
1: 152,379,904 (GRCm39) |
L448M |
probably damaging |
Het |
| Cox15 |
G |
T |
19: 43,735,344 (GRCm39) |
T141K |
probably damaging |
Het |
| Csnk2a2 |
C |
T |
8: 96,184,003 (GRCm39) |
|
probably benign |
Het |
| Cyp2b10 |
A |
T |
7: 25,624,813 (GRCm39) |
|
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 38,999,534 (GRCm39) |
Y80C |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,232,328 (GRCm39) |
Y693C |
possibly damaging |
Het |
| Des |
T |
C |
1: 75,340,121 (GRCm39) |
S343P |
probably damaging |
Het |
| Dync1i2 |
T |
C |
2: 71,080,207 (GRCm39) |
|
probably benign |
Het |
| Eif3m |
T |
A |
2: 104,837,122 (GRCm39) |
Q199L |
probably damaging |
Het |
| Emsy |
G |
T |
7: 98,249,881 (GRCm39) |
T802K |
probably damaging |
Het |
| Endov |
A |
G |
11: 119,382,651 (GRCm39) |
T33A |
probably damaging |
Het |
| Epb41l5 |
G |
A |
1: 119,476,896 (GRCm39) |
T728I |
probably damaging |
Het |
| Fbxo39 |
A |
G |
11: 72,209,228 (GRCm39) |
I363V |
probably benign |
Het |
| Gm8674 |
C |
T |
13: 50,054,553 (GRCm39) |
|
noncoding transcript |
Het |
| Il6st |
T |
A |
13: 112,617,998 (GRCm39) |
N137K |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,567,778 (GRCm39) |
N136S |
probably damaging |
Het |
| Iqub |
A |
T |
6: 24,491,558 (GRCm39) |
I376N |
probably benign |
Het |
| Kansl3 |
A |
G |
1: 36,393,874 (GRCm39) |
|
probably benign |
Het |
| Kbtbd2 |
A |
T |
6: 56,758,909 (GRCm39) |
H71Q |
probably damaging |
Het |
| Lgals8 |
G |
T |
13: 12,468,208 (GRCm39) |
Y140* |
probably null |
Het |
| Mab21l4 |
T |
C |
1: 93,080,661 (GRCm39) |
Y415C |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,387,791 (GRCm39) |
I924L |
probably benign |
Het |
| Mcoln2 |
A |
T |
3: 145,887,569 (GRCm39) |
T329S |
possibly damaging |
Het |
| Mex3d |
A |
T |
10: 80,217,354 (GRCm39) |
L621Q |
probably damaging |
Het |
| Mmut |
A |
G |
17: 41,248,359 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,225,457 (GRCm39) |
H1038R |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,161,309 (GRCm39) |
|
probably null |
Het |
| Ngrn |
A |
G |
7: 79,914,520 (GRCm39) |
T224A |
probably benign |
Het |
| Nin |
G |
A |
12: 70,064,424 (GRCm39) |
R2019* |
probably null |
Het |
| Nphp4 |
C |
G |
4: 152,631,475 (GRCm39) |
Q792E |
probably damaging |
Het |
| Or13e8 |
C |
T |
4: 43,696,823 (GRCm39) |
V117M |
probably benign |
Het |
| Or2z9 |
C |
T |
8: 72,854,020 (GRCm39) |
Q139* |
probably null |
Het |
| Or4c3d |
C |
T |
2: 89,882,015 (GRCm39) |
V218I |
possibly damaging |
Het |
| Or5d38 |
C |
T |
2: 87,954,655 (GRCm39) |
V225I |
probably benign |
Het |
| Or8k3 |
T |
A |
2: 86,058,799 (GRCm39) |
N172I |
probably damaging |
Het |
| Pde4dip |
C |
A |
3: 97,631,418 (GRCm39) |
V1164L |
probably damaging |
Het |
| Plppr1 |
A |
G |
4: 49,301,067 (GRCm39) |
|
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,516,310 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
T |
A |
1: 33,669,485 (GRCm39) |
E163D |
probably benign |
Het |
| Prrc2b |
A |
T |
2: 32,084,997 (GRCm39) |
D296V |
probably damaging |
Het |
| Pter |
A |
G |
2: 12,983,432 (GRCm39) |
|
probably benign |
Het |
| Resf1 |
A |
T |
6: 149,228,130 (GRCm39) |
K392I |
probably damaging |
Het |
| Robo2 |
C |
A |
16: 73,758,798 (GRCm39) |
V662L |
probably damaging |
Het |
| Sirpd |
G |
T |
3: 15,397,212 (GRCm39) |
T24K |
unknown |
Het |
| Slco1b2 |
A |
T |
6: 141,617,926 (GRCm39) |
I424F |
probably benign |
Het |
| Snx29 |
A |
T |
16: 11,449,335 (GRCm39) |
H260L |
probably damaging |
Het |
| Stil |
A |
G |
4: 114,896,392 (GRCm39) |
N959S |
probably benign |
Het |
| Taar8c |
A |
T |
10: 23,977,508 (GRCm39) |
D101E |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tsr1 |
A |
T |
11: 74,790,425 (GRCm39) |
D171V |
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,455,626 (GRCm39) |
T348A |
probably damaging |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,808 (GRCm39) |
I112N |
probably damaging |
Het |
| Vps36 |
A |
G |
8: 22,708,226 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
G |
A |
5: 102,085,604 (GRCm39) |
A630V |
possibly damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,707,144 (GRCm39) |
D14E |
probably null |
Het |
| Ylpm1 |
T |
C |
12: 85,077,157 (GRCm39) |
I1294T |
possibly damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,790,936 (GRCm39) |
F378L |
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 |
|
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 |
|
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'- GGACCCTACTGATCCTCAGATCATCTC -3'
(R):5'- TGCACAGGATTTAGGACAATGGATGC -3'
Sequencing Primer
(F):5'- GATCCTCAGATCATCTCTGAAGG -3'
(R):5'- GCACTTATGCAACACTGTTTAGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation