Incidental Mutation 'R6714:Trpc1'
| ID |
529256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpc1
|
| Ensembl Gene |
ENSMUSG00000032839 |
| Gene Name |
transient receptor potential cation channel, subfamily C, member 1 |
| Synonyms |
Mtrp1, Trp1, Trrp1 |
| MMRRC Submission |
044832-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R6714 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
95587135-95632428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95605326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 111
(L111Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053785]
[ENSMUST00000186235]
[ENSMUST00000189137]
[ENSMUST00000190497]
[ENSMUST00000190604]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053785
AA Change: L243Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057640
Gene: ENSMUSG00000032839
AA Change: L243Q
| 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: ENSMUST00000186235
AA Change: L111Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140994
Gene: ENSMUSG00000032839
AA Change: L111Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000188141
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189137
AA Change: L277Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139672
Gene: ENSMUSG00000032839
AA Change: L277Q
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (48/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC061237 |
A |
T |
14: 44,741,639 (GRCm39) |
R127S |
possibly damaging |
Het |
| Bub1 |
C |
A |
2: 127,656,652 (GRCm39) |
M463I |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,167,609 (GRCm39) |
I1794V |
possibly damaging |
Het |
| Clspn |
C |
T |
4: 126,459,561 (GRCm39) |
T320M |
probably damaging |
Het |
| Coch |
A |
C |
12: 51,649,520 (GRCm39) |
D277A |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,779,966 (GRCm39) |
I3223F |
probably damaging |
Het |
| E2f6 |
G |
A |
12: 16,869,003 (GRCm39) |
V109I |
probably damaging |
Het |
| Edem2 |
A |
T |
2: 155,570,809 (GRCm39) |
|
probably null |
Het |
| Efcab8 |
A |
G |
2: 153,631,130 (GRCm39) |
K187E |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,574,979 (GRCm39) |
N210S |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,809,878 (GRCm39) |
I2066V |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gpc5 |
C |
T |
14: 115,789,715 (GRCm39) |
Q530* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,579,926 (GRCm39) |
I1937K |
probably damaging |
Het |
| Hpx |
G |
A |
7: 105,244,302 (GRCm39) |
R269C |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,763,382 (GRCm39) |
|
probably null |
Het |
| Kbtbd4 |
A |
T |
2: 90,736,183 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
T |
C |
2: 101,783,297 (GRCm39) |
T310A |
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,306,710 (GRCm39) |
S341N |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,005,048 (GRCm39) |
V69A |
possibly damaging |
Het |
| Myh8 |
T |
C |
11: 67,197,775 (GRCm39) |
Y1881H |
probably damaging |
Het |
| Nectin4 |
A |
T |
1: 171,198,218 (GRCm39) |
|
probably benign |
Het |
| Nhsl1 |
G |
T |
10: 18,400,459 (GRCm39) |
V562L |
possibly damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,671 (GRCm39) |
I220K |
possibly damaging |
Het |
| Or6c205 |
T |
A |
10: 129,086,809 (GRCm39) |
N135K |
possibly damaging |
Het |
| Pcdhga7 |
T |
A |
18: 37,850,330 (GRCm39) |
V779E |
probably benign |
Het |
| Peg12 |
T |
A |
7: 62,113,317 (GRCm39) |
H260L |
unknown |
Het |
| Qrfpr |
A |
T |
3: 36,234,405 (GRCm39) |
M312K |
possibly damaging |
Het |
| Rbl2 |
T |
A |
8: 91,833,415 (GRCm39) |
I730N |
possibly damaging |
Het |
| Rbm39 |
G |
C |
2: 156,003,538 (GRCm39) |
L281V |
possibly damaging |
Het |
| Setd1b |
A |
G |
5: 123,295,654 (GRCm39) |
E1074G |
unknown |
Het |
| Sfr1 |
A |
G |
19: 47,723,405 (GRCm39) |
D303G |
probably damaging |
Het |
| Slc7a12 |
T |
C |
3: 14,546,380 (GRCm39) |
V175A |
probably benign |
Het |
| Slc8a1 |
A |
T |
17: 81,715,678 (GRCm39) |
L785Q |
probably damaging |
Het |
| Spdl1 |
T |
A |
11: 34,713,830 (GRCm39) |
|
probably null |
Het |
| Spg11 |
T |
C |
2: 121,926,212 (GRCm39) |
I694M |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,644,189 (GRCm39) |
F143L |
probably benign |
Het |
| Tti1 |
A |
G |
2: 157,848,971 (GRCm39) |
V756A |
possibly damaging |
Het |
| Unc93a2 |
T |
G |
17: 7,643,937 (GRCm39) |
E124A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,917,696 (GRCm39) |
I777N |
probably damaging |
Het |
| Zbtb8b |
C |
T |
4: 129,326,776 (GRCm39) |
E97K |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,306,897 (GRCm39) |
D41G |
probably damaging |
Het |
| Zfp493 |
A |
T |
13: 67,934,499 (GRCm39) |
S151C |
probably benign |
Het |
| Zfp503 |
T |
C |
14: 22,035,825 (GRCm39) |
T364A |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,487,152 (GRCm39) |
K772R |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,819,239 (GRCm39) |
M1275L |
probably benign |
Het |
| Zfp811 |
G |
A |
17: 33,016,736 (GRCm39) |
H434Y |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCTTCATACCTCCTTCTGG -3'
(R):5'- CAGTATGGGCACAGGAAGTC -3'
Sequencing Primer
(F):5'- ACCTCCTTCTGGTTATATTTGATAGC -3'
(R):5'- CAGGAAGTCTGTTTCTCCAAAGCTG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation