Incidental Mutation 'PIT4531001:Trpc6'
| ID |
556460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpc6
|
| Ensembl Gene |
ENSMUSG00000031997 |
| Gene Name |
transient receptor potential cation channel, subfamily C, member 6 |
| Synonyms |
mtrp6, Trrp6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4531001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
8544143-8680742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 8610149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 206
(Y206D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050433]
[ENSMUST00000214596]
[ENSMUST00000217462]
|
| AlphaFold |
Q61143 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050433
AA Change: Y206D
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: Y206D
| 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: Y206D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217462
AA Change: Y206D
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.6%
- 10x: 84.3%
- 20x: 70.3%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
T |
G |
9: 59,217,600 (GRCm39) |
D204E |
probably damaging |
Het |
| Aqr |
C |
A |
2: 113,961,215 (GRCm39) |
V682L |
possibly damaging |
Het |
| Bmper |
A |
T |
9: 23,136,113 (GRCm39) |
N65Y |
possibly damaging |
Het |
| Calb1 |
T |
C |
4: 15,900,925 (GRCm39) |
L171P |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,892,415 (GRCm39) |
M217V |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,265,412 (GRCm39) |
|
probably null |
Het |
| Dpm1 |
T |
C |
2: 168,052,472 (GRCm39) |
T255A |
probably benign |
Het |
| Efhb |
A |
G |
17: 53,752,803 (GRCm39) |
Y440H |
probably damaging |
Het |
| Elp2 |
T |
C |
18: 24,737,170 (GRCm39) |
V40A |
probably damaging |
Het |
| Far2 |
A |
T |
6: 148,076,629 (GRCm39) |
N491Y |
possibly damaging |
Het |
| Frem1 |
T |
A |
4: 82,868,517 (GRCm39) |
H1488L |
probably benign |
Het |
| Frrs1l |
C |
A |
4: 56,990,144 (GRCm39) |
R43L |
unknown |
Het |
| Galnt3 |
G |
A |
2: 65,937,432 (GRCm39) |
R93C |
probably benign |
Het |
| Gm8225 |
A |
G |
17: 26,762,363 (GRCm39) |
T185A |
possibly damaging |
Het |
| H2-Q1 |
T |
C |
17: 35,539,892 (GRCm39) |
F54L |
probably benign |
Het |
| H2-Q1 |
A |
T |
17: 35,540,055 (GRCm39) |
Q108L |
probably damaging |
Het |
| Hoxc12 |
T |
G |
15: 102,846,855 (GRCm39) |
L249W |
probably damaging |
Het |
| Lrrc75b |
A |
T |
10: 75,393,099 (GRCm39) |
H83Q |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,576,391 (GRCm39) |
T1964S |
unknown |
Het |
| Nob1 |
T |
C |
8: 108,145,049 (GRCm39) |
D142G |
probably benign |
Het |
| Or2y1d |
T |
C |
11: 49,321,753 (GRCm39) |
V150A |
probably benign |
Het |
| Or4p19 |
A |
T |
2: 88,242,104 (GRCm39) |
H299Q |
probably benign |
Het |
| Or4p22 |
A |
T |
2: 88,317,601 (GRCm39) |
Y175F |
possibly damaging |
Het |
| Or5b24 |
G |
A |
19: 12,912,641 (GRCm39) |
D180N |
probably damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,571 (GRCm39) |
Y134H |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,329,327 (GRCm39) |
N527I |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,805,096 (GRCm39) |
I543V |
|
Het |
| Ppp1r2 |
A |
T |
16: 31,077,279 (GRCm39) |
N150K |
probably damaging |
Het |
| Prl7d1 |
A |
T |
13: 27,894,161 (GRCm39) |
L135Q |
probably damaging |
Het |
| Ralgds |
G |
T |
2: 28,435,226 (GRCm39) |
E461* |
probably null |
Het |
| Ramac |
C |
T |
7: 81,417,327 (GRCm39) |
P9L |
possibly damaging |
Het |
| Rasa3 |
T |
A |
8: 13,655,887 (GRCm39) |
H116L |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,136,827 (GRCm39) |
P520L |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,518,283 (GRCm39) |
S376A |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,458,173 (GRCm39) |
T3290A |
probably benign |
Het |
| Stk25 |
G |
A |
1: 93,552,346 (GRCm39) |
P345S |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,300,148 (GRCm39) |
E454G |
probably null |
Het |
| Tecpr1 |
T |
C |
5: 144,150,885 (GRCm39) |
K308E |
probably damaging |
Het |
| Thtpa |
C |
T |
14: 55,332,962 (GRCm39) |
P16S |
probably damaging |
Het |
| Trim65 |
T |
A |
11: 116,018,535 (GRCm39) |
I247F |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,703,307 (GRCm39) |
T9357I |
unknown |
Het |
| Ugt2b1 |
C |
A |
5: 87,074,342 (GRCm39) |
A6S |
probably benign |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,603 (GRCm39) |
V8A |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,878,971 (GRCm39) |
I2990N |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,345,826 (GRCm39) |
R2689Q |
possibly damaging |
Het |
| Zfp831 |
T |
A |
2: 174,488,516 (GRCm39) |
Y1064N |
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 |
|
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 |
|
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'- TGTGGCCAATGAGCACTTGG -3'
(R):5'- CCTGGATCTAGAGTGGCTGAAG -3'
Sequencing Primer
(F):5'- TTGGAAATCACAGAGCTGCTACTC -3'
(R):5'- GAAGGAATCATGCTTCTGCTTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation