Incidental Mutation 'R0034:Trpc1'
| ID |
64590 |
| 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 |
038328-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R0034 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
95587135-95632428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95631814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 43
(S43P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053785]
[ENSMUST00000093800]
[ENSMUST00000189137]
[ENSMUST00000190497]
[ENSMUST00000190604]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053785
AA Change: S43P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057640
Gene: ENSMUSG00000032839
AA Change: S43P
| 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: ENSMUST00000093800
|
| SMART Domains |
Protein: ENSMUSP00000091317
Gene: ENSMUSG00000049493
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
15 |
43 |
8.5e-5 |
SMART |
|
EFh
|
55 |
83 |
1.73e-5 |
SMART |
|
low complexity region
|
100 |
116 |
N/A |
INTRINSIC |
|
CH
|
124 |
236 |
3.69e-23 |
SMART |
|
CH
|
268 |
375 |
4.4e-21 |
SMART |
|
CH
|
398 |
503 |
7.27e-22 |
SMART |
|
CH
|
519 |
624 |
3.75e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189137
AA Change: S43P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139672
Gene: ENSMUSG00000032839
AA Change: S43P
| 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 |
noncoding transcript
Transcript: ENSMUST00000190205
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190497
AA Change: S43P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140550
Gene: ENSMUSG00000032839
AA Change: S43P
| 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 damaging
Transcript: ENSMUST00000190604
AA Change: S43P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139577
Gene: ENSMUSG00000032839
AA Change: S43P
| 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 |
0.1468 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.4%
|
| Validation Efficiency |
98% (64/65) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
C |
T |
7: 136,989,321 (GRCm39) |
R60Q |
probably benign |
Het |
| Angpt4 |
C |
T |
2: 151,771,311 (GRCm39) |
T209I |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,616,393 (GRCm39) |
|
probably benign |
Het |
| Aplp1 |
A |
C |
7: 30,143,867 (GRCm39) |
V56G |
probably damaging |
Het |
| Asns |
G |
A |
6: 7,676,299 (GRCm39) |
P419L |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,100,846 (GRCm38) |
H844L |
probably damaging |
Het |
| Cd14 |
A |
G |
18: 36,859,288 (GRCm39) |
Y56H |
probably benign |
Het |
| Cd300lb |
C |
T |
11: 114,819,225 (GRCm39) |
V135I |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,425,813 (GRCm39) |
A851T |
probably benign |
Het |
| Cfap74 |
C |
T |
4: 155,545,344 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,175,708 (GRCm39) |
I47L |
probably benign |
Het |
| Dnaaf9 |
T |
C |
2: 130,578,492 (GRCm39) |
H664R |
probably damaging |
Het |
| Eef1d |
T |
C |
15: 75,774,808 (GRCm39) |
T200A |
probably benign |
Het |
| Exoc1l |
A |
G |
5: 76,664,377 (GRCm39) |
I155M |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,262,973 (GRCm39) |
M795K |
probably benign |
Het |
| Gabpb1 |
C |
T |
2: 126,500,454 (GRCm39) |
R15Q |
possibly damaging |
Het |
| Gata4 |
C |
A |
14: 63,438,933 (GRCm39) |
M381I |
probably benign |
Het |
| Gm5114 |
A |
G |
7: 39,058,282 (GRCm39) |
S446P |
possibly damaging |
Het |
| Gnb1 |
T |
A |
4: 155,636,146 (GRCm39) |
N155K |
probably benign |
Het |
| Haspin |
G |
A |
11: 73,029,044 (GRCm39) |
T15M |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,971,955 (GRCm39) |
L745P |
probably damaging |
Het |
| Kcng3 |
T |
A |
17: 83,895,812 (GRCm39) |
|
probably benign |
Het |
| Kif15 |
A |
T |
9: 122,828,350 (GRCm39) |
N887I |
possibly damaging |
Het |
| Kif26a |
T |
C |
12: 112,135,397 (GRCm39) |
|
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,348,679 (GRCm39) |
C738Y |
probably benign |
Het |
| Kifc2 |
G |
T |
15: 76,551,300 (GRCm39) |
C613F |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,224,865 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
A |
T |
10: 127,381,520 (GRCm39) |
I3826N |
probably benign |
Het |
| Map2k4 |
A |
G |
11: 65,610,437 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,093,913 (GRCm39) |
S2006P |
probably damaging |
Het |
| Or51m1 |
T |
C |
7: 103,578,708 (GRCm39) |
V226A |
probably benign |
Het |
| Pax4 |
T |
C |
6: 28,442,448 (GRCm39) |
T285A |
probably benign |
Het |
| Pcdhb5 |
A |
G |
18: 37,455,137 (GRCm39) |
N506D |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,367,405 (GRCm39) |
G768S |
probably benign |
Het |
| Plb1 |
G |
T |
5: 32,430,457 (GRCm39) |
G138V |
probably benign |
Het |
| Poln |
A |
C |
5: 34,272,762 (GRCm39) |
V398G |
possibly damaging |
Het |
| Poteg |
A |
G |
8: 27,952,105 (GRCm39) |
|
probably benign |
Het |
| Rapgef1 |
C |
A |
2: 29,614,780 (GRCm39) |
|
probably benign |
Het |
| Rbm43 |
A |
T |
2: 51,815,722 (GRCm39) |
D166E |
probably benign |
Het |
| Rhobtb2 |
T |
C |
14: 70,026,137 (GRCm39) |
T602A |
probably benign |
Het |
| Samd3 |
G |
A |
10: 26,147,398 (GRCm39) |
|
probably benign |
Het |
| Sbno2 |
A |
C |
10: 79,894,174 (GRCm39) |
|
probably benign |
Het |
| Sec1 |
A |
G |
7: 45,328,759 (GRCm39) |
V96A |
probably benign |
Het |
| Senp7 |
A |
C |
16: 55,973,933 (GRCm39) |
S385R |
possibly damaging |
Het |
| Sgk3 |
T |
C |
1: 9,955,902 (GRCm39) |
V301A |
probably damaging |
Het |
| Sgpl1 |
A |
T |
10: 60,938,392 (GRCm39) |
M467K |
probably damaging |
Het |
| Slc22a26 |
A |
G |
19: 7,779,618 (GRCm39) |
I66T |
probably benign |
Het |
| Stra6 |
G |
A |
9: 58,058,752 (GRCm39) |
|
probably null |
Het |
| Tfrc |
T |
A |
16: 32,434,214 (GRCm39) |
|
probably null |
Het |
| Tmem30b |
T |
C |
12: 73,592,779 (GRCm39) |
Y112C |
probably damaging |
Het |
| Trap1 |
A |
T |
16: 3,886,894 (GRCm39) |
|
probably benign |
Het |
| Tsku |
T |
C |
7: 98,001,870 (GRCm39) |
T154A |
possibly damaging |
Het |
| Uroc1 |
T |
C |
6: 90,322,292 (GRCm39) |
V272A |
probably damaging |
Het |
| Vmn1r69 |
T |
A |
7: 10,314,738 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,435 (GRCm39) |
W364R |
probably damaging |
Het |
| Wnk2 |
G |
T |
13: 49,221,556 (GRCm39) |
T377K |
possibly damaging |
Het |
| Zfta |
C |
A |
19: 7,397,724 (GRCm39) |
H90Q |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,479,455 (GRCm39) |
N1012S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAATTAGGCAGAAGTCCTGCG -3'
(R):5'- AACGACTCACCCGTTTTCCAGC -3'
Sequencing Primer
(F):5'- TGGGAATAGCCGCTGCAC -3'
(R):5'- TTTCCAGCTCGGGGTCG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation