Incidental Mutation 'R6950:Trpc3'
ID |
541199 |
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 |
045062-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6950 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
36674626-36744276 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 36692739 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 751
(R751H)
|
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: R751H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029271 Gene: ENSMUSG00000027716 AA Change: R751H
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 |
0.1658 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.4%
|
Validation Efficiency |
98% (59/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
A |
16: 14,229,480 (GRCm39) |
V404D |
probably damaging |
Het |
Adcy2 |
A |
G |
13: 69,036,184 (GRCm39) |
M159T |
possibly damaging |
Het |
Agtpbp1 |
T |
C |
13: 59,598,080 (GRCm39) |
K674R |
probably benign |
Het |
Atxn7 |
C |
A |
14: 14,095,511 (GRCm38) |
P403H |
probably damaging |
Het |
Cav3 |
C |
T |
6: 112,449,171 (GRCm39) |
T63I |
probably damaging |
Het |
Ccr6 |
T |
C |
17: 8,475,898 (GRCm39) |
*368Q |
probably null |
Het |
Cdh8 |
A |
T |
8: 99,757,395 (GRCm39) |
N734K |
probably benign |
Het |
Ces5a |
G |
T |
8: 94,257,402 (GRCm39) |
N134K |
probably benign |
Het |
Cisd3 |
T |
G |
11: 97,576,986 (GRCm39) |
|
probably null |
Het |
Cyp4f39 |
T |
G |
17: 32,711,280 (GRCm39) |
C476G |
probably damaging |
Het |
Dffb |
A |
T |
4: 154,054,549 (GRCm39) |
M180K |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,783,313 (GRCm39) |
E749G |
possibly damaging |
Het |
Eogt |
A |
G |
6: 97,111,343 (GRCm39) |
F173L |
possibly damaging |
Het |
Ephb1 |
T |
A |
9: 102,072,108 (GRCm39) |
T224S |
probably benign |
Het |
Fam114a1 |
A |
T |
5: 65,137,322 (GRCm39) |
E88D |
possibly damaging |
Het |
Fbn2 |
A |
C |
18: 58,168,993 (GRCm39) |
M2262R |
probably null |
Het |
Fsip2 |
A |
G |
2: 82,816,332 (GRCm39) |
I4022V |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,574,257 (GRCm39) |
V1301A |
probably benign |
Het |
Gch1 |
A |
T |
14: 47,426,723 (GRCm39) |
M1K |
probably null |
Het |
Hes1 |
T |
C |
16: 29,886,089 (GRCm39) |
F231S |
probably damaging |
Het |
Hoxb2 |
A |
G |
11: 96,242,727 (GRCm39) |
T31A |
probably benign |
Het |
Ifngr1 |
T |
A |
10: 19,483,041 (GRCm39) |
V265D |
probably damaging |
Het |
Ifnl3 |
A |
T |
7: 28,222,432 (GRCm39) |
I58F |
probably benign |
Het |
Igf2r |
T |
C |
17: 12,937,605 (GRCm39) |
T561A |
probably benign |
Het |
Igfbpl1 |
T |
A |
4: 45,815,494 (GRCm39) |
H214L |
probably damaging |
Het |
Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,737,901 (GRCm39) |
|
probably benign |
Het |
Lratd2 |
T |
C |
15: 60,695,563 (GRCm39) |
D61G |
probably benign |
Het |
Lrrc36 |
G |
T |
8: 106,152,021 (GRCm39) |
|
probably null |
Het |
Msl2 |
C |
T |
9: 100,979,174 (GRCm39) |
P516L |
possibly damaging |
Het |
Naaladl1 |
A |
T |
19: 6,156,011 (GRCm39) |
I62F |
probably damaging |
Het |
Neto2 |
G |
T |
8: 86,397,072 (GRCm39) |
P60Q |
probably damaging |
Het |
Nipsnap3b |
A |
T |
4: 53,015,136 (GRCm39) |
H61L |
possibly damaging |
Het |
Npb |
T |
C |
11: 120,499,473 (GRCm39) |
F47L |
probably benign |
Het |
Nutm1 |
T |
A |
2: 112,078,904 (GRCm39) |
T1004S |
probably benign |
Het |
Or4a78 |
T |
A |
2: 89,497,895 (GRCm39) |
I112F |
probably benign |
Het |
Or4z4 |
A |
G |
19: 12,076,754 (GRCm39) |
V83A |
probably benign |
Het |
Or8c17 |
A |
T |
9: 38,179,842 (GRCm39) |
N3I |
probably damaging |
Het |
Oxr1 |
C |
A |
15: 41,683,951 (GRCm39) |
A439E |
probably benign |
Het |
Phf14 |
A |
T |
6: 12,006,854 (GRCm39) |
K835N |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,633,850 (GRCm39) |
V3518E |
probably damaging |
Het |
Ptpru |
T |
A |
4: 131,503,663 (GRCm39) |
E1132D |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,567,206 (GRCm39) |
M1129K |
probably benign |
Het |
Rgmb |
T |
C |
17: 16,028,048 (GRCm39) |
K224E |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,517,170 (GRCm39) |
I3318V |
possibly damaging |
Het |
Slc9a4 |
A |
G |
1: 40,642,045 (GRCm39) |
Y338C |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,256,576 (GRCm39) |
|
probably null |
Het |
Tenm3 |
A |
T |
8: 48,693,514 (GRCm39) |
Y1789* |
probably null |
Het |
Tgm7 |
T |
C |
2: 120,924,128 (GRCm39) |
E598G |
probably damaging |
Het |
Tiam1 |
C |
T |
16: 89,657,092 (GRCm39) |
|
probably null |
Het |
Tmem175 |
A |
G |
5: 108,790,948 (GRCm39) |
N166S |
probably benign |
Het |
Trp73 |
G |
T |
4: 154,146,510 (GRCm39) |
N368K |
probably benign |
Het |
Trpm4 |
C |
A |
7: 44,968,704 (GRCm39) |
A410S |
probably damaging |
Het |
Ube2t |
T |
G |
1: 134,899,095 (GRCm39) |
|
probably null |
Het |
Vmn2r114 |
C |
T |
17: 23,529,137 (GRCm39) |
A322T |
probably benign |
Het |
Xylt2 |
C |
T |
11: 94,558,455 (GRCm39) |
R567H |
probably benign |
Het |
Zfp119b |
T |
C |
17: 56,246,137 (GRCm39) |
K318E |
probably damaging |
Het |
Zfp626 |
T |
G |
7: 27,518,339 (GRCm39) |
L440R |
probably damaging |
Het |
Zfp850 |
A |
G |
7: 27,689,939 (GRCm39) |
S90P |
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 |
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'- GAGTTACCCATGCCCAGTTC -3'
(R):5'- ACATCAGGTCTGGAGTGTCTTG -3'
Sequencing Primer
(F):5'- CAGTTCCAGATCCTTCTGCAG -3'
(R):5'- TAGTAACTGTGCAACTGGCC -3'
|
Posted On |
2018-11-28 |