Incidental Mutation 'R6499:Trpc1'
| ID |
519633 |
| 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 |
044631-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R6499 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
95587135-95632428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95608490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 267
(E267G)
|
| 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 damaging
Transcript: ENSMUST00000053785
AA Change: E233G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057640
Gene: ENSMUSG00000032839
AA Change: E233G
| 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: E101G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140994
Gene: ENSMUSG00000032839
AA Change: E101G
| 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: E267G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139672
Gene: ENSMUSG00000032839
AA Change: E267G
| 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 |
|
| Meta Mutation Damage Score |
0.6942 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,774,561 (GRCm39) |
T1250M |
probably damaging |
Het |
| Actn1 |
C |
T |
12: 80,215,191 (GRCm39) |
A857T |
possibly damaging |
Het |
| Adam2 |
C |
T |
14: 66,296,239 (GRCm39) |
V207I |
probably damaging |
Het |
| Angpt2 |
T |
C |
8: 18,744,533 (GRCm39) |
T404A |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,827,574 (GRCm39) |
|
probably benign |
Het |
| Atosa |
C |
A |
9: 74,930,930 (GRCm39) |
Q958K |
probably damaging |
Het |
| B4galt4 |
T |
A |
16: 38,578,184 (GRCm39) |
D210E |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,777,431 (GRCm39) |
H626L |
possibly damaging |
Het |
| Ccna2 |
T |
G |
3: 36,625,112 (GRCm39) |
D68A |
probably damaging |
Het |
| Cd163 |
G |
A |
6: 124,281,703 (GRCm39) |
G2D |
probably benign |
Het |
| Chrm5 |
A |
T |
2: 112,310,825 (GRCm39) |
V97D |
probably benign |
Het |
| Dctn5 |
G |
A |
7: 121,734,320 (GRCm39) |
V55I |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 162,141,164 (GRCm39) |
I365N |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,284,790 (GRCm39) |
D184G |
probably damaging |
Het |
| Ifi214 |
C |
A |
1: 173,352,597 (GRCm39) |
K277N |
probably damaging |
Het |
| Il11ra1 |
C |
T |
4: 41,765,412 (GRCm39) |
P169L |
probably benign |
Het |
| Inhbb |
C |
T |
1: 119,345,069 (GRCm39) |
E407K |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 26,907,154 (GRCm39) |
T2336S |
probably damaging |
Het |
| Ldhb |
A |
T |
6: 142,439,847 (GRCm39) |
V231E |
possibly damaging |
Het |
| Lrit2 |
T |
C |
14: 36,790,767 (GRCm39) |
F149L |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,936,500 (GRCm39) |
S1575T |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,358,102 (GRCm39) |
C1045R |
probably benign |
Het |
| Nefl |
A |
G |
14: 68,322,034 (GRCm39) |
E208G |
probably damaging |
Het |
| Oog4 |
A |
C |
4: 143,164,548 (GRCm39) |
S328A |
probably damaging |
Het |
| Or1e1 |
T |
A |
11: 73,245,011 (GRCm39) |
L144Q |
probably damaging |
Het |
| Or5p79 |
G |
T |
7: 108,221,713 (GRCm39) |
M231I |
probably benign |
Het |
| Or6c216 |
T |
C |
10: 129,678,453 (GRCm39) |
I153V |
probably benign |
Het |
| Or7e168 |
A |
G |
9: 19,719,847 (GRCm39) |
I78V |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,783,466 (GRCm39) |
N528D |
probably damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Polq |
T |
C |
16: 36,881,189 (GRCm39) |
S839P |
probably benign |
Het |
| Psmg1 |
A |
G |
16: 95,789,297 (GRCm39) |
F87L |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,376,507 (GRCm39) |
M1298T |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,470,076 (GRCm39) |
W958R |
probably damaging |
Het |
| Skint5 |
T |
G |
4: 113,396,552 (GRCm39) |
D1207A |
unknown |
Het |
| Stx17 |
T |
A |
4: 48,183,478 (GRCm39) |
|
probably null |
Het |
| Tas2r114 |
A |
T |
6: 131,666,099 (GRCm39) |
*310R |
probably null |
Het |
| Tmem130 |
T |
A |
5: 144,689,224 (GRCm39) |
N139I |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,793,812 (GRCm39) |
M3398K |
probably damaging |
Het |
| Vrtn |
T |
G |
12: 84,697,090 (GRCm39) |
D613E |
probably benign |
Het |
| Vsx1 |
G |
T |
2: 150,530,441 (GRCm39) |
T147K |
probably benign |
Het |
| Wdr55 |
T |
C |
18: 36,895,231 (GRCm39) |
V103A |
probably benign |
Het |
| Zfp712 |
A |
T |
13: 67,200,400 (GRCm39) |
D28E |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCCATAAGGATAGTCTCAAGGG -3'
(R):5'- AGCTGTGGACAACATTTTCCAATG -3'
Sequencing Primer
(F):5'- CATAAGGATAGTCTCAAGGGGATTTG -3'
(R):5'- GTAAAACTAACAAGGGTATGTTTGTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation