Incidental Mutation 'IGL02494:Trpc1'
ID |
295778 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trpc1
|
Ensembl Gene |
ENSMUSG00000032839 |
Gene Name |
transient receptor potential cation channel, subfamily C, member 1 |
Synonyms |
Mtrp1, Trp1, Trrp1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
IGL02494
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
95587135-95632428 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 95590360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 699
(N699S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053785]
[ENSMUST00000189137]
[ENSMUST00000190497]
[ENSMUST00000190604]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053785
AA Change: N665S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057640 Gene: ENSMUSG00000032839 AA Change: N665S
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
ANK
|
62 |
93 |
1.41e2 |
SMART |
ANK
|
99 |
129 |
2.11e1 |
SMART |
ANK
|
174 |
203 |
1.33e2 |
SMART |
Pfam:TRP_2
|
209 |
271 |
2.6e-27 |
PFAM |
transmembrane domain
|
367 |
386 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
407 |
673 |
5.9e-17 |
PFAM |
coiled coil region
|
770 |
794 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189137
AA Change: N699S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139672 Gene: ENSMUSG00000032839 AA Change: N699S
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
ANK
|
62 |
93 |
1.41e2 |
SMART |
ANK
|
99 |
129 |
2.11e1 |
SMART |
ANK
|
174 |
203 |
1.33e2 |
SMART |
Pfam:TRP_2
|
209 |
271 |
1.8e-29 |
PFAM |
transmembrane domain
|
367 |
386 |
N/A |
INTRINSIC |
transmembrane domain
|
407 |
424 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
441 |
661 |
1.2e-21 |
PFAM |
coiled coil region
|
770 |
794 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190497
|
SMART Domains |
Protein: ENSMUSP00000140550 Gene: ENSMUSG00000032839
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190604
|
SMART Domains |
Protein: ENSMUSP00000139577 Gene: ENSMUSG00000032839
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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 is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight and a severe loss of salivary gland fluid secretion due to attenuation of store-operated Ca2+ currents. Surprisingly, no abnormalities are seen in store-operated or mechanosensitive cation channels in vascular smooth muscle cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldob |
C |
T |
4: 49,541,138 (GRCm39) |
C178Y |
possibly damaging |
Het |
Arg2 |
A |
G |
12: 79,198,697 (GRCm39) |
R242G |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,973,525 (GRCm39) |
L2528* |
probably null |
Het |
Astn2 |
T |
A |
4: 65,910,585 (GRCm39) |
M468L |
probably benign |
Het |
Bglap2 |
A |
T |
3: 88,285,243 (GRCm39) |
C74* |
probably null |
Het |
Cand1 |
A |
G |
10: 119,049,522 (GRCm39) |
V408A |
probably benign |
Het |
Ccdc14 |
A |
G |
16: 34,543,784 (GRCm39) |
Y714C |
probably damaging |
Het |
Ccdc88c |
C |
T |
12: 100,911,734 (GRCm39) |
G707D |
probably benign |
Het |
Cdk13 |
G |
A |
13: 17,913,710 (GRCm39) |
R890* |
probably null |
Het |
Cep192 |
A |
G |
18: 67,937,453 (GRCm39) |
E61G |
probably benign |
Het |
Ctdspl |
T |
C |
9: 118,866,484 (GRCm39) |
L181P |
probably damaging |
Het |
Dock7 |
C |
T |
4: 98,877,471 (GRCm39) |
V442M |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,408,871 (GRCm39) |
V1860A |
probably damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Fscn2 |
G |
A |
11: 120,253,228 (GRCm39) |
V232M |
probably benign |
Het |
Gemin5 |
A |
T |
11: 58,012,583 (GRCm39) |
C1458S |
probably benign |
Het |
Glrb |
A |
G |
3: 80,752,539 (GRCm39) |
V408A |
probably benign |
Het |
Gtse1 |
C |
T |
15: 85,751,704 (GRCm39) |
P299L |
probably damaging |
Het |
Hcfc1r1 |
T |
A |
17: 23,893,559 (GRCm39) |
M46K |
probably damaging |
Het |
Hdc |
A |
G |
2: 126,436,041 (GRCm39) |
F610S |
probably benign |
Het |
Hip1 |
A |
T |
5: 135,473,645 (GRCm39) |
C224* |
probably null |
Het |
Hsd17b10 |
G |
T |
X: 150,787,230 (GRCm39) |
A241S |
probably benign |
Het |
Igsf10 |
G |
T |
3: 59,235,427 (GRCm39) |
Q1585K |
probably damaging |
Het |
Kat2b |
T |
C |
17: 53,960,233 (GRCm39) |
Y514H |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,862,486 (GRCm39) |
I58M |
probably benign |
Het |
Lcat |
C |
A |
8: 106,668,571 (GRCm39) |
|
probably benign |
Het |
Naca |
G |
A |
10: 127,877,179 (GRCm39) |
|
probably benign |
Het |
Nbea |
T |
C |
3: 55,712,772 (GRCm39) |
K2102E |
probably benign |
Het |
Ocrl |
G |
A |
X: 47,022,315 (GRCm39) |
D262N |
probably benign |
Het |
Or1e35 |
A |
C |
11: 73,797,550 (GRCm39) |
I256S |
possibly damaging |
Het |
Or4b1b |
G |
A |
2: 90,112,295 (GRCm39) |
S208F |
probably benign |
Het |
Or4n4 |
A |
T |
14: 50,519,683 (GRCm39) |
V9D |
probably damaging |
Het |
Or7c19 |
C |
A |
8: 85,957,312 (GRCm39) |
L63I |
possibly damaging |
Het |
Patj |
T |
A |
4: 98,592,224 (GRCm39) |
|
probably benign |
Het |
Pcdhb17 |
G |
A |
18: 37,618,347 (GRCm39) |
A46T |
possibly damaging |
Het |
Phf8 |
T |
C |
X: 150,408,227 (GRCm39) |
V859A |
probably benign |
Het |
Plec |
T |
A |
15: 76,060,979 (GRCm39) |
E3054V |
probably damaging |
Het |
Prr12 |
C |
A |
7: 44,678,270 (GRCm39) |
K1958N |
unknown |
Het |
Psmf1 |
A |
G |
2: 151,582,929 (GRCm39) |
|
probably null |
Het |
Rsu1 |
T |
C |
2: 13,222,002 (GRCm39) |
|
probably null |
Het |
Samm50 |
T |
C |
15: 84,080,015 (GRCm39) |
V31A |
probably benign |
Het |
St14 |
A |
G |
9: 31,019,941 (GRCm39) |
V56A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,574,144 (GRCm39) |
M25583K |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,585,798 (GRCm39) |
V993A |
probably benign |
Het |
|
Other mutations in Trpc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01068:Trpc1
|
APN |
9 |
95,608,547 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02094:Trpc1
|
APN |
9 |
95,625,334 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02412:Trpc1
|
APN |
9 |
95,618,914 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02943:Trpc1
|
APN |
9 |
95,590,906 (GRCm39) |
splice site |
probably benign |
|
IGL03025:Trpc1
|
APN |
9 |
95,592,313 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03221:Trpc1
|
APN |
9 |
95,588,953 (GRCm39) |
missense |
probably damaging |
1.00 |
Enlarged
|
UTSW |
9 |
95,603,524 (GRCm39) |
critical splice acceptor site |
probably null |
|
luxus
|
UTSW |
9 |
95,603,185 (GRCm39) |
critical splice donor site |
probably null |
|
Magnified
|
UTSW |
9 |
95,608,490 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4581001:Trpc1
|
UTSW |
9 |
95,618,974 (GRCm39) |
missense |
probably benign |
0.21 |
R0034:Trpc1
|
UTSW |
9 |
95,631,814 (GRCm39) |
missense |
probably damaging |
0.98 |
R1973:Trpc1
|
UTSW |
9 |
95,605,308 (GRCm39) |
missense |
probably benign |
|
R2033:Trpc1
|
UTSW |
9 |
95,588,896 (GRCm39) |
missense |
probably damaging |
0.99 |
R2117:Trpc1
|
UTSW |
9 |
95,599,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R2262:Trpc1
|
UTSW |
9 |
95,588,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R2910:Trpc1
|
UTSW |
9 |
95,631,895 (GRCm39) |
missense |
probably benign |
0.00 |
R2918:Trpc1
|
UTSW |
9 |
95,605,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R3156:Trpc1
|
UTSW |
9 |
95,603,185 (GRCm39) |
critical splice donor site |
probably null |
|
R3427:Trpc1
|
UTSW |
9 |
95,614,249 (GRCm39) |
missense |
probably benign |
0.12 |
R4093:Trpc1
|
UTSW |
9 |
95,588,918 (GRCm39) |
missense |
probably benign |
0.12 |
R4384:Trpc1
|
UTSW |
9 |
95,614,161 (GRCm39) |
missense |
probably benign |
0.13 |
R4787:Trpc1
|
UTSW |
9 |
95,603,468 (GRCm39) |
missense |
probably benign |
0.02 |
R5327:Trpc1
|
UTSW |
9 |
95,603,524 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5576:Trpc1
|
UTSW |
9 |
95,603,377 (GRCm39) |
missense |
probably damaging |
0.97 |
R6320:Trpc1
|
UTSW |
9 |
95,603,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R6499:Trpc1
|
UTSW |
9 |
95,608,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R6714:Trpc1
|
UTSW |
9 |
95,605,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R7179:Trpc1
|
UTSW |
9 |
95,603,197 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7265:Trpc1
|
UTSW |
9 |
95,590,328 (GRCm39) |
missense |
probably benign |
|
R8169:Trpc1
|
UTSW |
9 |
95,592,323 (GRCm39) |
nonsense |
probably null |
|
R8288:Trpc1
|
UTSW |
9 |
95,603,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R8342:Trpc1
|
UTSW |
9 |
95,608,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R9276:Trpc1
|
UTSW |
9 |
95,590,288 (GRCm39) |
missense |
probably benign |
0.13 |
R9317:Trpc1
|
UTSW |
9 |
95,603,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R9509:Trpc1
|
UTSW |
9 |
95,625,249 (GRCm39) |
critical splice donor site |
probably null |
|
R9529:Trpc1
|
UTSW |
9 |
95,592,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R9784:Trpc1
|
UTSW |
9 |
95,599,646 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9800:Trpc1
|
UTSW |
9 |
95,625,303 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Trpc1
|
UTSW |
9 |
95,614,097 (GRCm39) |
missense |
probably benign |
0.36 |
Z1176:Trpc1
|
UTSW |
9 |
95,605,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |