Incidental Mutation 'R7032:Trpc6'
| ID |
546386 |
| 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 |
045133-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7032 (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 A
at 8609951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 140
(V140M)
|
| 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: V140M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: V140M
| 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: V140M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217462
AA Change: V140M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.5952 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,438 (GRCm39) |
D398E |
possibly damaging |
Het |
| Adam34 |
T |
C |
8: 44,105,303 (GRCm39) |
Y114C |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,004,896 (GRCm39) |
D156E |
probably benign |
Het |
| Apba1 |
T |
A |
19: 23,889,825 (GRCm39) |
S408T |
probably benign |
Het |
| Asb14 |
C |
T |
14: 26,625,412 (GRCm39) |
H256Y |
probably benign |
Het |
| Atf6 |
A |
T |
1: 170,627,181 (GRCm39) |
|
probably null |
Het |
| Atp6v1b2 |
T |
A |
8: 69,541,548 (GRCm39) |
V35E |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,255,289 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
C |
A |
10: 4,432,597 (GRCm39) |
P12Q |
unknown |
Het |
| Cdh23 |
C |
T |
10: 60,167,567 (GRCm39) |
E1810K |
probably damaging |
Het |
| Cdo1 |
A |
T |
18: 46,853,475 (GRCm39) |
F94L |
probably damaging |
Het |
| Cfap96 |
T |
G |
8: 46,409,474 (GRCm39) |
S282R |
probably damaging |
Het |
| Chdh |
C |
T |
14: 29,758,809 (GRCm39) |
P585S |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,683,391 (GRCm39) |
N407S |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,453,329 (GRCm39) |
S465C |
probably benign |
Het |
| Clip2 |
C |
A |
5: 134,551,484 (GRCm39) |
V213L |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,644,707 (GRCm39) |
S1194P |
probably damaging |
Het |
| Cyp7a1 |
T |
C |
4: 6,268,463 (GRCm39) |
T421A |
possibly damaging |
Het |
| Dhh |
C |
T |
15: 98,791,907 (GRCm39) |
G367E |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,326,796 (GRCm39) |
N2002D |
probably damaging |
Het |
| Epn2 |
T |
A |
11: 61,437,528 (GRCm39) |
N15Y |
probably damaging |
Het |
| Evi5 |
A |
C |
5: 107,936,147 (GRCm39) |
V647G |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,353,424 (GRCm39) |
|
probably null |
Het |
| Fam120a |
A |
G |
13: 49,102,589 (GRCm39) |
V222A |
probably benign |
Het |
| Fastkd5 |
A |
T |
2: 130,457,864 (GRCm39) |
I242K |
possibly damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,450,319 (GRCm39) |
M131T |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,744,283 (GRCm39) |
N2100S |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,855,916 (GRCm39) |
D38V |
possibly damaging |
Het |
| Klhl9 |
G |
A |
4: 88,639,843 (GRCm39) |
Q133* |
probably null |
Het |
| Krt84 |
T |
C |
15: 101,436,924 (GRCm39) |
E370G |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,459,410 (GRCm39) |
I12T |
probably benign |
Het |
| Lrriq4 |
T |
A |
3: 30,709,850 (GRCm39) |
L398* |
probably null |
Het |
| Ltf |
G |
A |
9: 110,855,198 (GRCm39) |
|
probably null |
Het |
| Macf1 |
C |
T |
4: 123,366,101 (GRCm39) |
V1322I |
probably benign |
Het |
| Mark2 |
T |
A |
19: 7,264,698 (GRCm39) |
I112L |
probably damaging |
Het |
| Mettl25b |
A |
G |
3: 87,831,649 (GRCm39) |
|
probably null |
Het |
| Mterf2 |
A |
T |
10: 84,956,527 (GRCm39) |
C32* |
probably null |
Het |
| Myo3b |
C |
T |
2: 69,925,608 (GRCm39) |
T25I |
probably damaging |
Het |
| Nsun7 |
A |
C |
5: 66,421,378 (GRCm39) |
I115L |
probably benign |
Het |
| Olfm3 |
G |
A |
3: 114,883,805 (GRCm39) |
V36M |
probably damaging |
Het |
| Or1p1c |
T |
C |
11: 74,160,428 (GRCm39) |
I71T |
possibly damaging |
Het |
| Or5d44 |
T |
C |
2: 88,141,373 (GRCm39) |
T256A |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,965 (GRCm39) |
Y262F |
possibly damaging |
Het |
| Or8g18 |
A |
T |
9: 39,148,983 (GRCm39) |
S246T |
possibly damaging |
Het |
| Pcdhgb8 |
A |
T |
18: 37,896,962 (GRCm39) |
R677S |
probably benign |
Het |
| Prrt4 |
A |
C |
6: 29,170,538 (GRCm39) |
L638R |
possibly damaging |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rab44 |
T |
C |
17: 29,359,438 (GRCm39) |
F542S |
unknown |
Het |
| Rhobtb3 |
T |
A |
13: 76,020,513 (GRCm39) |
E596D |
probably benign |
Het |
| Rpl36 |
T |
C |
17: 56,920,944 (GRCm39) |
I44T |
probably benign |
Het |
| Rptor |
A |
G |
11: 119,737,762 (GRCm39) |
I112V |
probably benign |
Het |
| Rxfp2 |
T |
C |
5: 149,993,813 (GRCm39) |
I611T |
probably damaging |
Het |
| Slc12a4 |
G |
T |
8: 106,675,865 (GRCm39) |
N553K |
probably damaging |
Het |
| Spata31d1d |
T |
A |
13: 59,876,046 (GRCm39) |
R496S |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,493,125 (GRCm39) |
D387G |
possibly damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,636,153 (GRCm39) |
C299S |
possibly damaging |
Het |
| Tbc1d21 |
A |
T |
9: 58,274,134 (GRCm39) |
|
probably null |
Het |
| Tdrd12 |
A |
T |
7: 35,180,471 (GRCm39) |
Y847* |
probably null |
Het |
| Tlr2 |
A |
T |
3: 83,745,212 (GRCm39) |
N290K |
probably benign |
Het |
| Tmppe |
A |
G |
9: 114,234,858 (GRCm39) |
T386A |
probably damaging |
Het |
| Tnks1bp1 |
C |
A |
2: 84,892,297 (GRCm39) |
H741Q |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,641,932 (GRCm39) |
D13427G |
probably damaging |
Het |
| Uba7 |
C |
A |
9: 107,853,371 (GRCm39) |
L106I |
possibly damaging |
Het |
| Unc5b |
T |
G |
10: 60,614,587 (GRCm39) |
T237P |
probably damaging |
Het |
| Vit |
A |
C |
17: 78,932,294 (GRCm39) |
D467A |
probably damaging |
Het |
| Vmn1r103 |
T |
C |
7: 20,243,780 (GRCm39) |
Y227C |
possibly damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,776,017 (GRCm39) |
Y196* |
probably null |
Het |
| Zhx3 |
A |
G |
2: 160,622,898 (GRCm39) |
V423A |
probably 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 |
|
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 |
|
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'- GAGGACCAGCATACATGTTTAATG -3'
(R):5'- TCACATCATGGGAGAACCGC -3'
Sequencing Primer
(F):5'- ATGATCATTCAACAAGCCTGTC -3'
(R):5'- GGCATAAAAGTCATCTTGCTGAAG -3'
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| Posted On |
2019-05-13 |
Incidental Mutation