Incidental Mutation 'R0032:Trpc3'
| ID |
15382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpc3
|
| Ensembl Gene |
ENSMUSG00000027716 |
| Gene Name |
transient receptor potential cation channel, subfamily C, member 3 |
| Synonyms |
Trp3, Trcp3, Trrp3 |
| MMRRC Submission |
038326-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0032 (G1)
of strain
731
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36674626-36744276 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36698405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 618
(I618T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029271]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029271
AA Change: I618T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: I618T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
68 |
N/A |
INTRINSIC |
|
ANK
|
100 |
129 |
2.47e2 |
SMART |
|
ANK
|
135 |
163 |
1.97e1 |
SMART |
|
ANK
|
221 |
250 |
1.13e1 |
SMART |
|
Pfam:TRP_2
|
256 |
318 |
3e-28 |
PFAM |
|
transmembrane domain
|
414 |
433 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
443 |
744 |
4.4e-34 |
PFAM |
|
Pfam:PKD_channel
|
486 |
739 |
1.4e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133542
|
| Meta Mutation Damage Score |
0.4649 |
| Coding Region Coverage |
- 1x: 80.9%
- 3x: 73.4%
- 10x: 52.4%
- 20x: 32.5%
|
| Validation Efficiency |
94% (87/93) |
| 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: Homozygous knockout mice or mice heterozygoous for a point mutation in exon 7 display an abnormal gait. Abnormal nervous system electrophysiology is also described. An A1903G point mutation in exon 7 results in homozygous lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
A |
10: 106,959,156 (GRCm39) |
T97S |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,094,729 (GRCm39) |
S552P |
possibly damaging |
Het |
| C2cd3 |
T |
A |
7: 100,093,652 (GRCm39) |
|
probably benign |
Het |
| Cd86 |
A |
T |
16: 36,441,235 (GRCm39) |
S77R |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,768,559 (GRCm39) |
R188H |
probably benign |
Het |
| Cpne8 |
T |
A |
15: 90,453,771 (GRCm39) |
|
probably benign |
Het |
| Ctsg |
T |
A |
14: 56,339,196 (GRCm39) |
I21F |
probably damaging |
Het |
| Cyp2j9 |
T |
G |
4: 96,457,043 (GRCm39) |
N476T |
possibly damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,746,387 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
T |
12: 104,671,057 (GRCm39) |
L995* |
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,877,955 (GRCm39) |
K2623R |
possibly damaging |
Het |
| Dnajc21 |
G |
T |
15: 10,461,963 (GRCm39) |
T146K |
probably benign |
Het |
| Dnmbp |
A |
C |
19: 43,891,158 (GRCm39) |
L203R |
probably damaging |
Het |
| Eif4g1 |
C |
T |
16: 20,504,648 (GRCm39) |
S829F |
probably damaging |
Het |
| Enkur |
T |
C |
2: 21,194,115 (GRCm39) |
I153V |
probably benign |
Het |
| Erf |
T |
C |
7: 24,944,500 (GRCm39) |
Y277C |
possibly damaging |
Het |
| Fcsk |
G |
A |
8: 111,618,735 (GRCm39) |
T341M |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,555,742 (GRCm39) |
|
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,561,452 (GRCm39) |
|
probably null |
Het |
| Il11ra1 |
A |
G |
4: 41,768,187 (GRCm39) |
E366G |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,712,209 (GRCm39) |
C261R |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,681,377 (GRCm39) |
F998L |
probably benign |
Het |
| Krt74 |
T |
A |
15: 101,669,887 (GRCm39) |
|
noncoding transcript |
Het |
| Me2 |
T |
G |
18: 73,927,596 (GRCm39) |
M219L |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,292,523 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 41,015,321 (GRCm39) |
V842E |
probably benign |
Het |
| Oma1 |
T |
A |
4: 103,223,209 (GRCm39) |
S465T |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,433,887 (GRCm39) |
H574L |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,542,179 (GRCm39) |
N804S |
possibly damaging |
Het |
| Pde4a |
C |
A |
9: 21,112,728 (GRCm39) |
|
probably benign |
Het |
| Pilra |
T |
A |
5: 137,829,527 (GRCm39) |
D179V |
probably damaging |
Het |
| Piwil1 |
G |
A |
5: 128,820,344 (GRCm39) |
S247N |
probably benign |
Het |
| Prss58 |
T |
G |
6: 40,872,633 (GRCm39) |
T158P |
probably benign |
Het |
| Slc35e3 |
T |
C |
10: 117,580,837 (GRCm39) |
M156V |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,414,198 (GRCm39) |
R938Q |
probably damaging |
Het |
| Syt8 |
T |
C |
7: 141,992,926 (GRCm39) |
V152A |
probably benign |
Het |
| Tppp2 |
G |
T |
14: 52,156,866 (GRCm39) |
R81L |
possibly damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,168,565 (GRCm39) |
D891E |
unknown |
Het |
| Zfp120 |
A |
T |
2: 149,959,512 (GRCm39) |
V270E |
possibly damaging |
Het |
|
| Other mutations in Trpc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Trpc3
|
APN |
3 |
36,694,788 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01701:Trpc3
|
APN |
3 |
36,725,743 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02254:Trpc3
|
APN |
3 |
36,705,669 (GRCm39) |
missense |
probably null |
0.98 |
|
IGL02723:Trpc3
|
APN |
3 |
36,704,377 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02816:Trpc3
|
APN |
3 |
36,705,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02867:Trpc3
|
APN |
3 |
36,694,850 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02929:Trpc3
|
APN |
3 |
36,692,623 (GRCm39) |
nonsense |
probably null |
|
|
IGL03076:Trpc3
|
APN |
3 |
36,694,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Trpc3
|
UTSW |
3 |
36,698,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0115:Trpc3
|
UTSW |
3 |
36,678,566 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0481:Trpc3
|
UTSW |
3 |
36,678,566 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0645:Trpc3
|
UTSW |
3 |
36,725,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0694:Trpc3
|
UTSW |
3 |
36,725,704 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1190:Trpc3
|
UTSW |
3 |
36,725,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1635:Trpc3
|
UTSW |
3 |
36,694,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Trpc3
|
UTSW |
3 |
36,692,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2204:Trpc3
|
UTSW |
3 |
36,704,298 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2937:Trpc3
|
UTSW |
3 |
36,688,532 (GRCm39) |
nonsense |
probably null |
|
|
R3732:Trpc3
|
UTSW |
3 |
36,692,708 (GRCm39) |
missense |
probably benign |
|
|
R3732:Trpc3
|
UTSW |
3 |
36,692,708 (GRCm39) |
missense |
probably benign |
|
|
R3733:Trpc3
|
UTSW |
3 |
36,692,708 (GRCm39) |
missense |
probably benign |
|
|
R4063:Trpc3
|
UTSW |
3 |
36,725,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4270:Trpc3
|
UTSW |
3 |
36,717,074 (GRCm39) |
nonsense |
probably null |
|
|
R4807:Trpc3
|
UTSW |
3 |
36,688,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4996:Trpc3
|
UTSW |
3 |
36,716,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5098:Trpc3
|
UTSW |
3 |
36,717,047 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5139:Trpc3
|
UTSW |
3 |
36,725,706 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5251:Trpc3
|
UTSW |
3 |
36,725,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Trpc3
|
UTSW |
3 |
36,692,519 (GRCm39) |
intron |
probably benign |
|
|
R5891:Trpc3
|
UTSW |
3 |
36,725,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6512:Trpc3
|
UTSW |
3 |
36,716,907 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6618:Trpc3
|
UTSW |
3 |
36,694,844 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6750:Trpc3
|
UTSW |
3 |
36,678,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Trpc3
|
UTSW |
3 |
36,692,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Trpc3
|
UTSW |
3 |
36,709,165 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7031:Trpc3
|
UTSW |
3 |
36,675,459 (GRCm39) |
missense |
probably benign |
|
|
R7100:Trpc3
|
UTSW |
3 |
36,704,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7182:Trpc3
|
UTSW |
3 |
36,709,258 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7211:Trpc3
|
UTSW |
3 |
36,694,882 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7214:Trpc3
|
UTSW |
3 |
36,704,286 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7284:Trpc3
|
UTSW |
3 |
36,678,562 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7468:Trpc3
|
UTSW |
3 |
36,678,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7652:Trpc3
|
UTSW |
3 |
36,692,677 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7815:Trpc3
|
UTSW |
3 |
36,709,294 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7833:Trpc3
|
UTSW |
3 |
36,694,821 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7977:Trpc3
|
UTSW |
3 |
36,698,318 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7987:Trpc3
|
UTSW |
3 |
36,698,318 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8778:Trpc3
|
UTSW |
3 |
36,725,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8959:Trpc3
|
UTSW |
3 |
36,709,258 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9072:Trpc3
|
UTSW |
3 |
36,694,831 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9175:Trpc3
|
UTSW |
3 |
36,709,279 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9401:Trpc3
|
UTSW |
3 |
36,675,503 (GRCm39) |
nonsense |
probably null |
|
|
R9429:Trpc3
|
UTSW |
3 |
36,705,777 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9563:Trpc3
|
UTSW |
3 |
36,705,683 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9571:Trpc3
|
UTSW |
3 |
36,694,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Trpc3
|
UTSW |
3 |
36,692,713 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1177:Trpc3
|
UTSW |
3 |
36,675,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-17 |
Incidental Mutation