Incidental Mutation 'R4767:Trpc6'
| ID |
366218 |
| 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 |
042408-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4767 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8643687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 491
(S491P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
|
| AlphaFold |
Q61143 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050433
AA Change: S491P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: S491P
| 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: S491P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215328
|
| Meta Mutation Damage Score |
0.4493 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
95% (62/65) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,029,804 (GRCm39) |
|
probably null |
Het |
| Aig1 |
T |
C |
10: 13,677,602 (GRCm39) |
N130S |
probably damaging |
Het |
| Alx1 |
A |
T |
10: 102,861,047 (GRCm39) |
Y160* |
probably null |
Het |
| Ap4e1 |
T |
C |
2: 126,902,358 (GRCm39) |
I755T |
probably benign |
Het |
| Apoc3 |
C |
A |
9: 46,145,833 (GRCm39) |
E21* |
probably null |
Het |
| Atp9b |
G |
T |
18: 80,796,285 (GRCm39) |
H919Q |
probably damaging |
Het |
| Cemip |
T |
G |
7: 83,622,514 (GRCm39) |
Y555S |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,971,025 (GRCm39) |
V252A |
possibly damaging |
Het |
| Cracr2a |
A |
T |
6: 127,588,470 (GRCm39) |
N210Y |
probably damaging |
Het |
| Crocc2 |
G |
A |
1: 93,130,578 (GRCm39) |
R953Q |
possibly damaging |
Het |
| Csnk1d |
A |
G |
11: 120,859,954 (GRCm39) |
S318P |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,427,751 (GRCm39) |
L384P |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,270,620 (GRCm39) |
T974I |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,163,922 (GRCm39) |
Y863C |
possibly damaging |
Het |
| Epg5 |
C |
A |
18: 78,066,498 (GRCm39) |
P2133T |
possibly damaging |
Het |
| Ephb6 |
A |
T |
6: 41,591,119 (GRCm39) |
Q92L |
possibly damaging |
Het |
| Ercc4 |
C |
A |
16: 12,939,959 (GRCm39) |
A73D |
probably damaging |
Het |
| Eva1c |
A |
T |
16: 90,701,235 (GRCm39) |
Y290F |
probably damaging |
Het |
| Galnt5 |
T |
A |
2: 57,918,156 (GRCm39) |
V798E |
possibly damaging |
Het |
| Haus4 |
T |
C |
14: 54,786,342 (GRCm39) |
E149G |
probably damaging |
Het |
| Ighv1-13 |
A |
G |
12: 114,594,556 (GRCm39) |
Y86C |
unknown |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,633,620 (GRCm39) |
V1584A |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,358,010 (GRCm39) |
E1119G |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,825,185 (GRCm39) |
L335P |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,237,550 (GRCm39) |
D375G |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,051,358 (GRCm39) |
I317T |
probably damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,558,898 (GRCm39) |
V128I |
probably benign |
Het |
| Nlrp2 |
C |
T |
7: 5,331,023 (GRCm39) |
D458N |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,624,335 (GRCm39) |
M1L |
probably benign |
Het |
| Or1o1 |
T |
A |
17: 37,717,091 (GRCm39) |
C217* |
probably null |
Het |
| Or5a1 |
G |
T |
19: 12,097,300 (GRCm39) |
H247N |
probably damaging |
Het |
| Or8g24 |
T |
C |
9: 38,989,988 (GRCm39) |
T18A |
possibly damaging |
Het |
| Or9q2 |
A |
T |
19: 13,772,409 (GRCm39) |
C189S |
probably damaging |
Het |
| Parp8 |
T |
C |
13: 117,005,072 (GRCm39) |
H663R |
probably damaging |
Het |
| Pax6 |
T |
C |
2: 105,525,705 (GRCm39) |
S377P |
probably benign |
Het |
| Pi15 |
A |
G |
1: 17,672,990 (GRCm39) |
D63G |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,474,495 (GRCm39) |
|
probably benign |
Het |
| Rbm5 |
C |
A |
9: 107,622,412 (GRCm39) |
W546C |
probably damaging |
Het |
| Rnf123 |
C |
A |
9: 107,929,288 (GRCm39) |
C1257F |
probably damaging |
Het |
| Rnf185 |
A |
G |
11: 3,382,551 (GRCm39) |
S45P |
possibly damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,788,697 (GRCm39) |
S241P |
possibly damaging |
Het |
| Slfn8 |
G |
A |
11: 82,894,023 (GRCm39) |
A872V |
possibly damaging |
Het |
| Smoc1 |
G |
A |
12: 81,151,547 (GRCm39) |
|
probably null |
Het |
| Sox14 |
A |
T |
9: 99,757,686 (GRCm39) |
W18R |
probably damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,848,969 (GRCm39) |
E1053G |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,294,866 (GRCm39) |
K1246* |
probably null |
Het |
| Tbrg4 |
A |
C |
11: 6,570,909 (GRCm39) |
S188A |
probably benign |
Het |
| Thnsl2 |
A |
T |
6: 71,111,279 (GRCm39) |
D196E |
probably damaging |
Het |
| Tmem266 |
C |
T |
9: 55,288,025 (GRCm39) |
T34I |
probably damaging |
Het |
| Tmem59l |
C |
A |
8: 70,938,748 (GRCm39) |
R111L |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,306,280 (GRCm39) |
|
probably benign |
Het |
| Tspan10 |
A |
T |
11: 120,336,992 (GRCm39) |
N254I |
probably damaging |
Het |
| Ubox5 |
A |
T |
2: 130,433,814 (GRCm39) |
L511Q |
probably damaging |
Het |
| Vmn1r183 |
TATCCATC |
TATC |
7: 23,754,531 (GRCm39) |
|
probably null |
Het |
| Vmn2r4 |
C |
T |
3: 64,298,397 (GRCm39) |
C577Y |
probably damaging |
Het |
| Vmn2r86 |
A |
T |
10: 130,291,606 (GRCm39) |
M53K |
probably benign |
Het |
| Zfp948 |
T |
A |
17: 21,808,569 (GRCm39) |
I587N |
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 |
|
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 |
|
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'- TGCGAGGACCGTTCATGAAG -3'
(R):5'- CAAACCACGCATGAGAGGTTC -3'
Sequencing Primer
(F):5'- CATGAAGTTTGTAGCACACGC -3'
(R):5'- TGTAACTGGTAATAAGGCCACC -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation