Incidental Mutation 'R7911:Trpc6'
| ID |
610516 |
| 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 |
045960-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7911 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 8656705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 789
(G789R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
|
| AlphaFold |
Q61143 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050433
AA Change: G789R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: G789R
| 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 |
possibly damaging
Transcript: ENSMUST00000214596
AA Change: G711R
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
C |
5: 107,693,667 (GRCm39) |
F95L |
probably benign |
Het |
| Abca3 |
C |
G |
17: 24,617,478 (GRCm39) |
D1058E |
probably damaging |
Het |
| Abca7 |
C |
A |
10: 79,840,867 (GRCm39) |
R919S |
probably benign |
Het |
| Abcc2 |
T |
C |
19: 43,792,109 (GRCm39) |
S297P |
probably benign |
Het |
| Abcc8 |
A |
G |
7: 45,803,860 (GRCm39) |
L438P |
probably damaging |
Het |
| Acbd6 |
C |
A |
1: 155,562,750 (GRCm39) |
D250E |
probably damaging |
Het |
| Ankrd31 |
A |
G |
13: 97,015,608 (GRCm39) |
N1626D |
possibly damaging |
Het |
| Arrdc4 |
C |
T |
7: 68,394,924 (GRCm39) |
E112K |
probably benign |
Het |
| B3galnt1 |
T |
A |
3: 69,482,574 (GRCm39) |
Y229F |
probably damaging |
Het |
| Calcrl |
A |
C |
2: 84,181,575 (GRCm39) |
I191S |
probably damaging |
Het |
| Camkmt |
T |
A |
17: 85,759,866 (GRCm39) |
|
probably null |
Het |
| Card11 |
A |
G |
5: 140,867,755 (GRCm39) |
|
probably null |
Het |
| Cfap157 |
A |
G |
2: 32,668,219 (GRCm39) |
L407P |
probably damaging |
Het |
| Cfap299 |
T |
A |
5: 98,885,567 (GRCm39) |
M158K |
possibly damaging |
Het |
| Chst15 |
T |
C |
7: 131,872,251 (GRCm39) |
Q10R |
probably benign |
Het |
| Ciao3 |
A |
G |
17: 25,999,372 (GRCm39) |
E262G |
probably benign |
Het |
| Col26a1 |
A |
G |
5: 136,771,952 (GRCm39) |
L424P |
probably damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,299,925 (GRCm39) |
M308T |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,207,733 (GRCm39) |
I403T |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,238,563 (GRCm39) |
|
probably null |
Het |
| Dmrt1 |
T |
A |
19: 25,580,692 (GRCm39) |
L368Q |
probably benign |
Het |
| Dnah7b |
C |
A |
1: 46,178,838 (GRCm39) |
P837Q |
probably damaging |
Het |
| Drg2 |
T |
A |
11: 60,355,001 (GRCm39) |
L283Q |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,445,122 (GRCm39) |
T1523I |
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,479,818 (GRCm39) |
S370P |
probably damaging |
Het |
| Fbxl21 |
G |
A |
13: 56,684,976 (GRCm39) |
G360D |
probably damaging |
Het |
| Fbxo39 |
T |
C |
11: 72,208,358 (GRCm39) |
S237P |
probably damaging |
Het |
| Gart |
G |
T |
16: 91,435,672 (GRCm39) |
F180L |
probably benign |
Het |
| Gng4 |
T |
C |
13: 13,999,857 (GRCm39) |
L42P |
possibly damaging |
Het |
| Heatr9 |
T |
A |
11: 83,403,234 (GRCm39) |
D435V |
probably damaging |
Het |
| Hsh2d |
A |
G |
8: 72,950,648 (GRCm39) |
E45G |
probably damaging |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,410 (GRCm39) |
I70T |
probably damaging |
Het |
| Igkv1-133 |
T |
A |
6: 67,701,924 (GRCm39) |
F9L |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,167,051 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
T |
C |
10: 67,067,774 (GRCm39) |
V1578A |
probably damaging |
Het |
| Kcnj5 |
T |
C |
9: 32,233,517 (GRCm39) |
D266G |
probably damaging |
Het |
| Klk1b9 |
A |
T |
7: 43,629,211 (GRCm39) |
K206N |
probably damaging |
Het |
| Macir |
T |
A |
1: 97,573,615 (GRCm39) |
H150L |
probably damaging |
Het |
| Madd |
C |
T |
2: 90,997,853 (GRCm39) |
G725D |
probably null |
Het |
| Mki67 |
A |
T |
7: 135,306,333 (GRCm39) |
H576Q |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,651,681 (GRCm39) |
I36N |
|
Het |
| Mycbp2 |
T |
G |
14: 103,437,621 (GRCm39) |
E2113D |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,457,677 (GRCm39) |
Y76C |
probably damaging |
Het |
| Noct |
A |
G |
3: 51,155,069 (GRCm39) |
|
probably benign |
Het |
| Or5ac23 |
C |
T |
16: 59,149,606 (GRCm39) |
D89N |
possibly damaging |
Het |
| Pcdhga6 |
C |
T |
18: 37,842,479 (GRCm39) |
S733L |
not run |
Het |
| Pdlim7 |
T |
C |
13: 55,646,919 (GRCm39) |
E389G |
probably damaging |
Het |
| Ppip5k1 |
A |
G |
2: 121,173,139 (GRCm39) |
Y480H |
possibly damaging |
Het |
| Prc1 |
T |
A |
7: 79,954,120 (GRCm39) |
D93E |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,613,792 (GRCm39) |
M459T |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,688,924 (GRCm39) |
A906T |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,655,101 (GRCm39) |
E622G |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,501,788 (GRCm39) |
V1104A |
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,512,427 (GRCm39) |
R188Q |
probably null |
Het |
| Sh3pxd2b |
G |
A |
11: 32,321,533 (GRCm39) |
V31I |
probably damaging |
Het |
| Skor1 |
T |
C |
9: 63,052,328 (GRCm39) |
E547G |
possibly damaging |
Het |
| Slk |
C |
T |
19: 47,603,668 (GRCm39) |
T183I |
|
Het |
| Sorcs1 |
C |
A |
19: 50,132,470 (GRCm39) |
D1163Y |
unknown |
Het |
| Tex14 |
G |
A |
11: 87,424,428 (GRCm39) |
|
probably null |
Het |
| Them5 |
A |
G |
3: 94,253,496 (GRCm39) |
T169A |
possibly damaging |
Het |
| Tlcd4 |
A |
T |
3: 121,022,041 (GRCm39) |
I119K |
probably damaging |
Het |
| Trav5-4 |
T |
C |
14: 53,941,908 (GRCm39) |
F94L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,537,095 (GRCm39) |
C34944* |
probably null |
Het |
| Usp53 |
T |
C |
3: 122,754,916 (GRCm39) |
M180V |
probably benign |
Het |
| Vwa3b |
T |
C |
1: 37,193,107 (GRCm39) |
S8P |
probably damaging |
Het |
| Wdr90 |
A |
T |
17: 26,069,723 (GRCm39) |
M1205K |
probably benign |
Het |
| Zcwpw1 |
A |
T |
5: 137,795,032 (GRCm39) |
E76V |
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 |
|
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 |
|
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'- TGTACAGGATGATGCGGACG -3'
(R):5'- GAGGCTCCAAATGCTCTCAC -3'
Sequencing Primer
(F):5'- CGTGGAGTGGAAGTTTGCAAG -3'
(R):5'- CAAATGCTCTCACTTTCAGTACAAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation