Incidental Mutation 'R2918:Trpc1'
| ID |
255378 |
| 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 |
040503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R2918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
95587135-95632428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95605182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 159
(R159H)
|
| 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: R291H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057640
Gene: ENSMUSG00000032839
AA Change: R291H
| 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: R159H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140994
Gene: ENSMUSG00000032839
AA Change: R159H
| 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: R325H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139672
Gene: ENSMUSG00000032839
AA Change: R325H
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
A |
G |
2: 22,989,579 (GRCm39) |
N401D |
probably benign |
Het |
| Agtpbp1 |
T |
A |
13: 59,644,829 (GRCm39) |
D679V |
possibly damaging |
Het |
| Akap8 |
A |
G |
17: 32,524,622 (GRCm39) |
V558A |
probably benign |
Het |
| Arrdc2 |
C |
T |
8: 71,290,171 (GRCm39) |
R170Q |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,189,027 (GRCm39) |
H94Q |
probably damaging |
Het |
| Atg4a-ps |
G |
A |
3: 103,552,837 (GRCm39) |
A168V |
probably damaging |
Het |
| Crb2 |
G |
T |
2: 37,673,395 (GRCm39) |
R97L |
probably benign |
Het |
| Dnaja1 |
C |
T |
4: 40,724,052 (GRCm39) |
A71V |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| G6pd2 |
A |
G |
5: 61,966,869 (GRCm39) |
R215G |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,054,920 (GRCm39) |
S776P |
probably benign |
Het |
| Ift140 |
C |
A |
17: 25,254,805 (GRCm39) |
N159K |
possibly damaging |
Het |
| Mafa |
A |
G |
15: 75,619,147 (GRCm39) |
S209P |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,051,683 (GRCm39) |
|
probably null |
Het |
| Myh14 |
T |
C |
7: 44,265,687 (GRCm39) |
D1564G |
possibly damaging |
Het |
| Ncor2 |
T |
A |
5: 125,102,824 (GRCm39) |
I1792F |
probably damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,519 (GRCm39) |
F7L |
probably benign |
Het |
| Odad2 |
G |
A |
18: 7,222,625 (GRCm39) |
S548L |
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,660 (GRCm39) |
S136P |
probably benign |
Het |
| Or1m1 |
T |
A |
9: 18,666,775 (GRCm39) |
D52V |
probably damaging |
Het |
| Or2aa1 |
T |
C |
11: 59,480,265 (GRCm39) |
T217A |
probably benign |
Het |
| Pak3 |
T |
C |
X: 142,547,972 (GRCm39) |
V318A |
probably damaging |
Het |
| Pik3ap1 |
T |
C |
19: 41,290,970 (GRCm39) |
T521A |
probably benign |
Het |
| Pkdcc |
G |
C |
17: 83,523,378 (GRCm39) |
A162P |
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,618,701 (GRCm39) |
V194A |
probably damaging |
Het |
| Scp2d1 |
T |
A |
2: 144,665,868 (GRCm39) |
I69N |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,905,782 (GRCm39) |
S1288P |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,645,532 (GRCm39) |
S2019P |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,021,004 (GRCm39) |
L630* |
probably null |
Het |
| Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
| Zbtb14 |
C |
T |
17: 69,695,214 (GRCm39) |
P304L |
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 |
|
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'- TCAGCATGCTAGGACCACTG -3'
(R):5'- CCTAATAGAGACTGCGTTTTGTAG -3'
Sequencing Primer
(F):5'- ACAGGATCTTTCTACTTTCAGACAC -3'
(R):5'- TAGGAATGATTATGAAGAGCTAGCCC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation