Incidental Mutation 'R6512:Trpc3'
| ID |
519943 |
| 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 |
045017-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6512 (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 A
at 36716907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 377
(Y377F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029271]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029271
AA Change: Y377F
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: Y377F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (39/39) |
| 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 |
|---|
| 1700122O11Rik |
A |
G |
17: 48,347,672 (GRCm39) |
S211P |
possibly damaging |
Het |
| Abcb11 |
T |
C |
2: 69,112,996 (GRCm39) |
T674A |
probably benign |
Het |
| Acad11 |
G |
T |
9: 103,972,758 (GRCm39) |
E484* |
probably null |
Het |
| Ankhd1 |
A |
T |
18: 36,724,509 (GRCm39) |
D389V |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,449,687 (GRCm39) |
L439* |
probably null |
Het |
| Atp13a2 |
A |
G |
4: 140,730,529 (GRCm39) |
T808A |
probably damaging |
Het |
| Capn13 |
C |
A |
17: 73,689,985 (GRCm39) |
V9L |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,302 (GRCm39) |
Y243C |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,494,478 (GRCm39) |
W308R |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,069,172 (GRCm39) |
E129G |
possibly damaging |
Het |
| Dock5 |
A |
G |
14: 68,062,097 (GRCm39) |
S424P |
possibly damaging |
Het |
| Ebf1 |
C |
T |
11: 44,883,168 (GRCm39) |
H469Y |
probably damaging |
Het |
| Efhc1 |
A |
T |
1: 21,030,573 (GRCm39) |
N169Y |
probably damaging |
Het |
| Elmo1 |
T |
C |
13: 20,557,331 (GRCm39) |
L424P |
probably damaging |
Het |
| Ighv1-59 |
A |
G |
12: 115,299,003 (GRCm39) |
V16A |
probably damaging |
Het |
| Kcnc1 |
T |
G |
7: 46,076,821 (GRCm39) |
C208G |
probably damaging |
Het |
| Kif13b |
A |
T |
14: 64,982,323 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
T |
A |
7: 3,917,387 (GRCm39) |
N203Y |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,897,917 (GRCm39) |
T787A |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,180,488 (GRCm39) |
K575* |
probably null |
Het |
| Nedd1 |
C |
T |
10: 92,527,737 (GRCm39) |
A486T |
probably benign |
Het |
| Or2aj5 |
A |
T |
16: 19,425,109 (GRCm39) |
L103H |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,840,309 (GRCm39) |
I1168T |
possibly damaging |
Het |
| Pla2g12a |
T |
A |
3: 129,682,606 (GRCm39) |
H59Q |
probably benign |
Het |
| Ralbp1 |
A |
G |
17: 66,168,270 (GRCm39) |
V345A |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,697,723 (GRCm39) |
V894M |
possibly damaging |
Het |
| Sec24b |
T |
A |
3: 129,834,946 (GRCm39) |
Y84F |
probably damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,779,865 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Spats1 |
C |
T |
17: 45,763,599 (GRCm39) |
|
probably null |
Het |
| Tbk1 |
T |
A |
10: 121,414,526 (GRCm39) |
N63Y |
probably damaging |
Het |
| Tbl1xr1 |
C |
T |
3: 22,194,698 (GRCm39) |
|
probably benign |
Het |
| Top2b |
T |
A |
14: 16,409,854 (GRCm38) |
D840E |
possibly damaging |
Het |
| Uba6 |
C |
T |
5: 86,272,262 (GRCm39) |
R778K |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,146 (GRCm39) |
I92F |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r70 |
G |
T |
7: 85,215,305 (GRCm39) |
F76L |
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,102,723 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,578,474 (GRCm39) |
T880S |
probably damaging |
Het |
| Zfp64 |
C |
A |
2: 168,735,997 (GRCm39) |
G560V |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTGCTACAACAGGTAAC -3'
(R):5'- CAGGCACTTGTCACTGATTG -3'
Sequencing Primer
(F):5'- TGCTACAACAGGTAACACTTGAG -3'
(R):5'- GTCACTGATTGAGAGAAATTCTTGCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation