Incidental Mutation 'R9072:Trpc3'
| ID |
700792 |
| 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 |
068894-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9072 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36674626-36744276 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36694831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 708
(I708V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029271]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029271
AA Change: I708V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: I708V
| 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 |
|
| Meta Mutation Damage Score |
0.0656 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (63/63) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,240,834 (GRCm39) |
E899A |
possibly damaging |
Het |
| Best2 |
T |
A |
8: 85,737,418 (GRCm39) |
I230F |
probably damaging |
Het |
| C2cd2 |
T |
C |
16: 97,676,403 (GRCm39) |
E448G |
probably damaging |
Het |
| C2cd3 |
T |
G |
7: 100,040,291 (GRCm39) |
S287A |
probably benign |
Het |
| Camta2 |
G |
A |
11: 70,567,234 (GRCm39) |
P677S |
probably benign |
Het |
| Cand2 |
C |
T |
6: 115,769,490 (GRCm39) |
R767C |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,704,293 (GRCm39) |
E259K |
probably benign |
Het |
| Cep250 |
C |
G |
2: 155,834,035 (GRCm39) |
Q1987E |
probably benign |
Het |
| Chn1 |
T |
C |
2: 73,443,430 (GRCm39) |
D440G |
probably benign |
Het |
| Cmbl |
A |
T |
15: 31,585,449 (GRCm39) |
D111V |
possibly damaging |
Het |
| Col5a3 |
T |
A |
9: 20,682,453 (GRCm39) |
I1664F |
unknown |
Het |
| Cp |
T |
C |
3: 20,033,158 (GRCm39) |
S662P |
possibly damaging |
Het |
| Cpne5 |
G |
A |
17: 29,430,677 (GRCm39) |
R78C |
probably damaging |
Het |
| Cst5 |
A |
G |
2: 149,249,261 (GRCm39) |
T104A |
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,725,662 (GRCm39) |
F195S |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,920,136 (GRCm39) |
Y475H |
probably benign |
Het |
| Edem2 |
G |
C |
2: 155,571,212 (GRCm39) |
L16V |
unknown |
Het |
| Eeig1 |
A |
G |
2: 32,455,674 (GRCm39) |
S267G |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,644,144 (GRCm39) |
W46R |
probably benign |
Het |
| Gal3st3 |
T |
A |
19: 5,352,605 (GRCm39) |
S11T |
probably benign |
Het |
| Garin5b |
A |
T |
7: 4,762,253 (GRCm39) |
H265Q |
|
Het |
| Gfi1 |
T |
A |
5: 107,865,725 (GRCm39) |
I451F |
possibly damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,714,185 (GRCm39) |
L314P |
probably damaging |
Het |
| Gm3250 |
A |
T |
10: 77,618,127 (GRCm39) |
C84S |
unknown |
Het |
| Hmcn1 |
A |
T |
1: 150,565,320 (GRCm39) |
V2269E |
probably benign |
Het |
| Ighv1-55 |
T |
C |
12: 115,172,013 (GRCm39) |
H18R |
probably benign |
Het |
| Iqgap3 |
G |
A |
3: 87,998,883 (GRCm39) |
G328E |
probably benign |
Het |
| Klf6 |
G |
T |
13: 5,917,233 (GRCm39) |
C303F |
probably benign |
Het |
| Klhl35 |
A |
T |
7: 99,122,129 (GRCm39) |
S77C |
probably damaging |
Het |
| Ktn1 |
T |
G |
14: 47,941,694 (GRCm39) |
V822G |
probably benign |
Het |
| Lbhd2 |
G |
T |
12: 111,375,040 (GRCm39) |
G21W |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 40,615,457 (GRCm39) |
R3649* |
probably null |
Het |
| Map2 |
C |
A |
1: 66,453,312 (GRCm39) |
T734N |
probably damaging |
Het |
| Mas1 |
A |
G |
17: 13,060,839 (GRCm39) |
F195L |
possibly damaging |
Het |
| Med1 |
A |
T |
11: 98,080,009 (GRCm39) |
M44K |
possibly damaging |
Het |
| Morc3 |
T |
C |
16: 93,667,482 (GRCm39) |
V620A |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Nucb2 |
T |
A |
7: 116,125,631 (GRCm39) |
I159N |
probably damaging |
Het |
| Olfm5 |
A |
G |
7: 103,802,984 (GRCm39) |
L493P |
probably benign |
Het |
| Or1e1 |
T |
G |
11: 73,244,797 (GRCm39) |
F73V |
probably damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,759 (GRCm39) |
C127* |
probably null |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Pcdhb22 |
T |
A |
18: 37,651,813 (GRCm39) |
C94S |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,537 (GRCm39) |
I662V |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,547,878 (GRCm39) |
T472M |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,849,795 (GRCm39) |
E1142G |
possibly damaging |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Polr2l |
T |
C |
7: 141,053,285 (GRCm39) |
Y43C |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,127,771 (GRCm39) |
N298K |
probably benign |
Het |
| Ptar1 |
T |
A |
19: 23,695,414 (GRCm39) |
C294S |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,401,736 (GRCm39) |
I1919V |
|
Het |
| Slc25a18 |
C |
T |
6: 120,769,022 (GRCm39) |
R180C |
probably benign |
Het |
| Slc27a3 |
A |
C |
3: 90,295,768 (GRCm39) |
S285R |
probably damaging |
Het |
| Smg1 |
C |
T |
7: 117,783,032 (GRCm39) |
V1092I |
unknown |
Het |
| Spata19 |
T |
G |
9: 27,309,024 (GRCm39) |
I54R |
possibly damaging |
Het |
| St6galnac5 |
T |
C |
3: 152,551,956 (GRCm39) |
T204A |
probably benign |
Het |
| Tdpoz8 |
T |
A |
3: 92,981,341 (GRCm39) |
C46S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,183 (GRCm39) |
E1999G |
unknown |
Het |
| Ube3b |
C |
T |
5: 114,542,607 (GRCm39) |
T488M |
probably damaging |
Het |
| Vmn1r235 |
A |
T |
17: 21,482,271 (GRCm39) |
I199F |
probably benign |
Het |
| Vsig8 |
A |
T |
1: 172,388,340 (GRCm39) |
N215Y |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,399,417 (GRCm39) |
K162R |
possibly damaging |
Het |
| Wdpcp |
A |
G |
11: 21,614,014 (GRCm39) |
T60A |
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,010,351 (GRCm39) |
I566N |
probably damaging |
Het |
| Wdr46 |
C |
T |
17: 34,163,555 (GRCm39) |
T371M |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,344,923 (GRCm39) |
S1101P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGATAAGAATCCGCTCCCTC -3'
(R):5'- CAGTTGTTAGGAATGTATGATGATAGC -3'
Sequencing Primer
(F):5'- ATCCGCTCCCTCCCCCTC -3'
(R):5'- CTGGAAGCTACTCATTACCG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation