Incidental Mutation 'R7872:Trpc6'
| ID |
608187 |
| 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 |
045924-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7872 (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 8609910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 126
(N126S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
[ENSMUST00000217462]
|
| AlphaFold |
Q61143 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050433
AA Change: N126S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: N126S
| 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: N126S
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217462
AA Change: N126S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
C |
T |
19: 34,220,839 (GRCm39) |
D290N |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,101,116 (GRCm39) |
D682G |
probably benign |
Het |
| Ankrd46 |
A |
G |
15: 36,485,989 (GRCm39) |
V88A |
possibly damaging |
Het |
| Ankub1 |
T |
A |
3: 57,572,807 (GRCm39) |
K305I |
probably damaging |
Het |
| Atrn |
T |
A |
2: 130,812,147 (GRCm39) |
|
probably null |
Het |
| Bambi |
A |
T |
18: 3,511,406 (GRCm39) |
T76S |
probably benign |
Het |
| Cacna1a |
T |
A |
8: 85,310,283 (GRCm39) |
V1447E |
probably damaging |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,527,210 (GRCm39) |
M629T |
probably damaging |
Het |
| Clcn4 |
T |
C |
7: 7,290,780 (GRCm39) |
N673S |
probably benign |
Het |
| Col20a1 |
T |
C |
2: 180,628,371 (GRCm39) |
F15S |
probably benign |
Het |
| Col2a1 |
G |
A |
15: 97,898,458 (GRCm39) |
Q39* |
probably null |
Het |
| Creb3 |
A |
G |
4: 43,563,332 (GRCm39) |
E119G |
probably benign |
Het |
| Dnah5 |
A |
C |
15: 28,245,830 (GRCm39) |
D556A |
probably damaging |
Het |
| Edar |
C |
T |
10: 58,446,348 (GRCm39) |
M192I |
possibly damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,320,209 (GRCm39) |
M634V |
probably benign |
Het |
| Fbxo10 |
C |
T |
4: 45,051,699 (GRCm39) |
V471I |
not run |
Het |
| Fer1l5 |
T |
C |
1: 36,460,967 (GRCm39) |
F2032L |
probably benign |
Het |
| Gm5150 |
A |
C |
3: 16,060,485 (GRCm39) |
M1R |
probably null |
Het |
| Grin1 |
T |
C |
2: 25,188,202 (GRCm39) |
E509G |
probably benign |
Het |
| Igkv10-94 |
C |
T |
6: 68,681,913 (GRCm39) |
|
probably benign |
Het |
| Il18bp |
A |
G |
7: 101,666,002 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Ints8 |
A |
T |
4: 11,254,062 (GRCm39) |
C17S |
probably benign |
Het |
| Kcnmb1 |
T |
C |
11: 33,916,275 (GRCm39) |
Y74H |
probably damaging |
Het |
| Kpna1 |
T |
C |
16: 35,843,565 (GRCm39) |
V313A |
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,321,061 (GRCm39) |
T1029I |
possibly damaging |
Het |
| Lrrc7 |
A |
T |
3: 158,059,099 (GRCm39) |
C3S |
probably damaging |
Het |
| Lyst |
C |
A |
13: 13,810,450 (GRCm39) |
H707N |
probably benign |
Het |
| Map3k20 |
A |
G |
2: 72,202,098 (GRCm39) |
K148R |
probably damaging |
Het |
| Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
| Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
| Mocs1 |
T |
A |
17: 49,746,561 (GRCm39) |
I177N |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,399,850 (GRCm39) |
D441G |
unknown |
Het |
| Ncoa1 |
T |
C |
12: 4,328,186 (GRCm39) |
N884S |
probably benign |
Het |
| Or12j4 |
A |
G |
7: 140,046,696 (GRCm39) |
N194S |
probably damaging |
Het |
| Or51a39 |
A |
G |
7: 102,363,389 (GRCm39) |
V77A |
probably benign |
Het |
| Padi6 |
A |
T |
4: 140,455,073 (GRCm39) |
F621L |
probably damaging |
Het |
| Pde8b |
C |
A |
13: 95,223,347 (GRCm39) |
M197I |
possibly damaging |
Het |
| Pear1 |
T |
A |
3: 87,659,522 (GRCm39) |
I771L |
probably benign |
Het |
| Poli |
A |
G |
18: 70,655,891 (GRCm39) |
L281P |
probably damaging |
Het |
| Prdm12 |
T |
C |
2: 31,530,231 (GRCm39) |
W41R |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,532,870 (GRCm39) |
S1500A |
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,096,798 (GRCm39) |
H767Q |
probably benign |
Het |
| Rasgef1b |
G |
A |
5: 99,382,403 (GRCm39) |
Q196* |
probably null |
Het |
| Rnpc3 |
A |
T |
3: 113,416,096 (GRCm39) |
L121* |
probably null |
Het |
| Rpp14 |
A |
G |
14: 8,083,724 (GRCm38) |
M1V |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,610,610 (GRCm39) |
D4072V |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,102,765 (GRCm39) |
H314R |
probably damaging |
Het |
| Six4 |
CT |
C |
12: 73,151,013 (GRCm39) |
|
probably benign |
Het |
| Slc37a3 |
A |
T |
6: 39,324,244 (GRCm39) |
Y335N |
probably damaging |
Het |
| Tcp11l1 |
A |
T |
2: 104,536,837 (GRCm39) |
H9Q |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,779,057 (GRCm39) |
M1256K |
probably damaging |
Het |
| Tut4 |
T |
G |
4: 108,374,715 (GRCm39) |
C933G |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,120,373 (GRCm39) |
F266S |
possibly damaging |
Het |
| Uimc1 |
A |
G |
13: 55,217,550 (GRCm39) |
V424A |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,573,873 (GRCm39) |
I1066V |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,740,404 (GRCm39) |
T12A |
probably benign |
Het |
| Vmn1r57 |
T |
A |
7: 5,223,613 (GRCm39) |
I46N |
possibly damaging |
Het |
| Vmn1r91 |
T |
C |
7: 19,835,839 (GRCm39) |
Y253H |
probably benign |
Het |
| Vmn2r14 |
T |
A |
5: 109,369,219 (GRCm39) |
H118L |
probably benign |
Het |
| Zfp775 |
A |
G |
6: 48,597,404 (GRCm39) |
K426R |
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 |
|
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 |
|
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'- TTGCAGCCGGGGTAATGAAAAC -3'
(R):5'- GCCTTCAGCAAAAGCTGGATG -3'
Sequencing Primer
(F):5'- GGGTAATGAAAACAGACTGACTCACC -3'
(R):5'- CTTCAGCAAAAGCTGGATGGTTGAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation