Incidental Mutation 'IGL02412:Trpc1'
| ID |
294377 |
| 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 # |
IGL02412
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
95587135-95632428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95618914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 146
(L146F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053785]
[ENSMUST00000186235]
[ENSMUST00000189137]
[ENSMUST00000190497]
[ENSMUST00000190604]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053785
|
| SMART Domains |
Protein: ENSMUSP00000057640
Gene: ENSMUSG00000032839
| 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 benign
Transcript: ENSMUST00000186235
|
| SMART Domains |
Protein: ENSMUSP00000140994
Gene: ENSMUSG00000032839
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
15 |
44 |
7e-12 |
BLAST |
|
Pfam:TRP_2
|
50 |
105 |
1e-18 |
PFAM |
|
transmembrane domain
|
201 |
222 |
N/A |
INTRINSIC |
|
transmembrane domain
|
237 |
254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189137
AA Change: L146F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139672
Gene: ENSMUSG00000032839
AA Change: L146F
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
A |
6: 85,605,854 (GRCm39) |
F2032L |
possibly damaging |
Het |
| Caps2 |
T |
C |
10: 112,039,941 (GRCm39) |
|
probably null |
Het |
| Ccdc88b |
A |
T |
19: 6,824,012 (GRCm39) |
F1414I |
probably damaging |
Het |
| Cr1l |
T |
G |
1: 194,797,080 (GRCm39) |
Y319S |
probably damaging |
Het |
| Cr1l |
C |
T |
1: 194,797,074 (GRCm39) |
G283E |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,407,165 (GRCm39) |
|
probably benign |
Het |
| Dhx37 |
T |
A |
5: 125,508,692 (GRCm39) |
K81M |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,778,820 (GRCm39) |
M326L |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,652,849 (GRCm39) |
D488G |
probably benign |
Het |
| Gm2058 |
G |
A |
7: 39,238,457 (GRCm39) |
|
noncoding transcript |
Het |
| Gm43638 |
T |
A |
5: 87,633,995 (GRCm39) |
Q204L |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,469,307 (GRCm39) |
D119G |
probably damaging |
Het |
| Gnb3 |
A |
C |
6: 124,814,425 (GRCm39) |
M120R |
probably benign |
Het |
| Il16 |
A |
C |
7: 83,301,899 (GRCm39) |
D74E |
probably benign |
Het |
| Kpna1 |
T |
C |
16: 35,851,561 (GRCm39) |
F382L |
probably benign |
Het |
| Krt33a |
G |
T |
11: 99,902,805 (GRCm39) |
Q340K |
probably benign |
Het |
| Lrrc17 |
T |
A |
5: 21,765,877 (GRCm39) |
S120T |
possibly damaging |
Het |
| Mapk3 |
C |
A |
7: 126,362,210 (GRCm39) |
Y56* |
probably null |
Het |
| Mfhas1 |
C |
T |
8: 36,055,969 (GRCm39) |
A148V |
probably benign |
Het |
| Npr2 |
A |
G |
4: 43,647,005 (GRCm39) |
I713V |
probably damaging |
Het |
| Obp1a |
T |
A |
X: 77,131,980 (GRCm39) |
Y108F |
probably damaging |
Het |
| Or51f1d |
A |
T |
7: 102,701,359 (GRCm39) |
M285L |
probably benign |
Het |
| Or5ac21 |
T |
A |
16: 59,123,555 (GRCm39) |
L13H |
probably damaging |
Het |
| Or6n1 |
T |
C |
1: 173,916,809 (GRCm39) |
F68L |
probably benign |
Het |
| Or7e178 |
T |
A |
9: 20,225,935 (GRCm39) |
S86C |
probably benign |
Het |
| Pias1 |
A |
T |
9: 62,800,421 (GRCm39) |
N430K |
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,254,052 (GRCm39) |
A836D |
probably damaging |
Het |
| Rftn2 |
T |
C |
1: 55,245,497 (GRCm39) |
E238G |
probably benign |
Het |
| Samt4 |
T |
G |
X: 153,267,118 (GRCm39) |
S86A |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,379,842 (GRCm39) |
M1219T |
probably benign |
Het |
| Sh3pxd2b |
T |
A |
11: 32,337,992 (GRCm39) |
D99E |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,825,723 (GRCm39) |
T573S |
probably benign |
Het |
| Sugct |
A |
G |
13: 17,837,386 (GRCm39) |
W82R |
probably damaging |
Het |
| Syt4 |
T |
G |
18: 31,576,896 (GRCm39) |
K153Q |
probably benign |
Het |
| Tbrg1 |
T |
C |
9: 37,563,908 (GRCm39) |
|
probably null |
Het |
| Tex36 |
C |
T |
7: 133,189,137 (GRCm39) |
R145K |
probably benign |
Het |
| Tfap2b |
A |
T |
1: 19,289,427 (GRCm39) |
D166V |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,322,830 (GRCm39) |
Y694C |
probably damaging |
Het |
| Ttc29 |
G |
A |
8: 79,003,569 (GRCm39) |
E262K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,547,293 (GRCm39) |
I32251N |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,612,691 (GRCm39) |
D17129E |
probably benign |
Het |
| Ucma |
T |
A |
2: 4,981,636 (GRCm39) |
I47N |
probably damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,474 (GRCm39) |
K211M |
possibly damaging |
Het |
| Vmn2r95 |
A |
C |
17: 18,660,218 (GRCm39) |
H210P |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,476,767 (GRCm39) |
E444G |
probably benign |
Het |
| Yy1 |
T |
C |
12: 108,760,023 (GRCm39) |
|
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,954,422 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,720,043 (GRCm39) |
Y1080* |
probably null |
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 |
|
IGL02494:Trpc1
|
APN |
9 |
95,590,360 (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 |
Incidental Mutation