Incidental Mutation 'R4360:Trpc6'
| ID |
324857 |
| 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 |
041111-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4360 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8610267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 245
(E245G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
[ENSMUST00000217462]
|
| AlphaFold |
Q61143 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050433
AA Change: E245G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: E245G
| 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 benign
Transcript: ENSMUST00000214596
AA Change: E245G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217462
AA Change: E245G
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0804 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I07Rik |
T |
C |
14: 67,175,850 (GRCm39) |
|
noncoding transcript |
Het |
| Adgra3 |
T |
C |
5: 50,147,552 (GRCm39) |
E496G |
possibly damaging |
Het |
| Atg14 |
C |
G |
14: 47,805,827 (GRCm39) |
E13Q |
probably benign |
Het |
| BC023105 |
G |
T |
18: 60,575,073 (GRCm39) |
|
noncoding transcript |
Het |
| Chd6 |
A |
G |
2: 160,791,776 (GRCm39) |
V2527A |
possibly damaging |
Het |
| Csn1s2a |
G |
T |
5: 87,929,700 (GRCm39) |
V100L |
possibly damaging |
Het |
| Fah |
G |
A |
7: 84,238,856 (GRCm39) |
L330F |
probably damaging |
Het |
| Fmo2 |
T |
C |
1: 162,709,583 (GRCm39) |
N268S |
probably damaging |
Het |
| Foxg1 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
12: 49,431,475 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
A |
T |
2: 4,606,052 (GRCm39) |
H287L |
probably damaging |
Het |
| G2e3 |
T |
A |
12: 51,410,197 (GRCm39) |
|
probably benign |
Het |
| Gm1758 |
A |
T |
16: 14,324,215 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7204 |
T |
C |
16: 48,039,196 (GRCm39) |
|
noncoding transcript |
Het |
| Gm829 |
T |
C |
4: 45,718,819 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa14 |
A |
G |
2: 3,503,560 (GRCm39) |
V116A |
possibly damaging |
Het |
| Hspa4 |
T |
C |
11: 53,155,919 (GRCm39) |
Y662C |
probably damaging |
Het |
| Islr |
T |
A |
9: 58,064,887 (GRCm39) |
N207Y |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,759,864 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,106,036 (GRCm39) |
S1546P |
probably damaging |
Het |
| Or13a25 |
T |
C |
7: 140,247,730 (GRCm39) |
F170L |
probably damaging |
Het |
| Or56a3 |
A |
C |
7: 104,735,460 (GRCm39) |
E179A |
probably damaging |
Het |
| Or7g18 |
G |
A |
9: 18,787,013 (GRCm39) |
C127Y |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,866,661 (GRCm39) |
D1075G |
possibly damaging |
Het |
| Pkp2 |
A |
G |
16: 16,086,546 (GRCm39) |
I736V |
probably benign |
Het |
| Plekha8 |
T |
C |
6: 54,599,171 (GRCm39) |
I235T |
probably benign |
Het |
| Polq |
A |
G |
16: 36,880,701 (GRCm39) |
D955G |
probably benign |
Het |
| Pramel16 |
A |
G |
4: 143,677,433 (GRCm39) |
F49L |
possibly damaging |
Het |
| Psmd1 |
A |
G |
1: 86,061,459 (GRCm39) |
K890E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scpep1 |
A |
G |
11: 88,821,070 (GRCm39) |
Y366H |
possibly damaging |
Het |
| Slc18a3 |
A |
G |
14: 32,185,882 (GRCm39) |
V167A |
probably benign |
Het |
| Sp8 |
A |
G |
12: 118,812,400 (GRCm39) |
D85G |
possibly damaging |
Het |
| Stard3nl |
G |
A |
13: 19,554,654 (GRCm39) |
S144L |
probably damaging |
Het |
| Stk4 |
A |
G |
2: 163,930,879 (GRCm39) |
E160G |
possibly damaging |
Het |
| Tbcb |
T |
C |
7: 29,926,460 (GRCm39) |
N119S |
probably benign |
Het |
| Tnc |
G |
T |
4: 63,935,161 (GRCm39) |
R592S |
probably benign |
Het |
| Trem3 |
T |
A |
17: 48,556,801 (GRCm39) |
S91T |
probably benign |
Het |
| Usp40 |
C |
T |
1: 87,880,083 (GRCm39) |
R1036H |
probably damaging |
Het |
| Usp47 |
G |
T |
7: 111,654,139 (GRCm39) |
G112C |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,024,149 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
G |
12: 98,746,456 (GRCm39) |
K555R |
probably benign |
Het |
| Zfp26 |
T |
C |
9: 20,349,869 (GRCm39) |
S232G |
probably benign |
Het |
| Zfp811 |
T |
C |
17: 33,017,432 (GRCm39) |
T202A |
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 |
|
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'- AAAACTTGTCTCGAGTTGGGG -3'
(R):5'- CAAGCACTGCCAGCTCATTG -3'
Sequencing Primer
(F):5'- GCCATTAGTAAAGGTTATGTACGG -3'
(R):5'- GCTCATTGCTAAGTTCTAAAGCAGTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation