Incidental Mutation 'R9175:Trpc3'
ID |
696607 |
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 |
068948-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9175 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
36674626-36744276 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36709279 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 399
(N399I)
|
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: N399I
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000029271 Gene: ENSMUSG00000027716 AA Change: N399I
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
G |
A |
7: 12,249,412 (GRCm39) |
D82N |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,531,593 (GRCm39) |
K4607E |
probably damaging |
Het |
Agpat4 |
G |
C |
17: 12,417,669 (GRCm39) |
G70A |
probably damaging |
Het |
Ank2 |
G |
A |
3: 126,722,402 (GRCm39) |
T1017I |
possibly damaging |
Het |
C2cd2 |
T |
C |
16: 97,678,421 (GRCm39) |
I339V |
probably benign |
Het |
Cacna1a |
A |
T |
8: 85,296,644 (GRCm39) |
N1221Y |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,274,314 (GRCm39) |
V2197A |
probably damaging |
Het |
Ccdc74a |
T |
C |
16: 17,468,042 (GRCm39) |
S101P |
probably benign |
Het |
Cdh13 |
A |
T |
8: 119,968,968 (GRCm39) |
I442F |
probably damaging |
Het |
Cnot2 |
A |
T |
10: 116,334,051 (GRCm39) |
M373K |
possibly damaging |
Het |
Coch |
C |
A |
12: 51,645,060 (GRCm39) |
H205N |
possibly damaging |
Het |
Col6a4 |
A |
G |
9: 105,957,560 (GRCm39) |
V88A |
probably benign |
Het |
Erich3 |
A |
G |
3: 154,419,601 (GRCm39) |
T35A |
probably benign |
Het |
Gm28360 |
A |
T |
1: 117,781,328 (GRCm39) |
K106N |
possibly damaging |
Het |
Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
Hspg2 |
T |
C |
4: 137,256,657 (GRCm39) |
F1467L |
probably damaging |
Het |
Ighg2c |
T |
C |
12: 113,252,499 (GRCm39) |
T18A |
|
Het |
Iqcm |
A |
G |
8: 76,710,867 (GRCm39) |
K472E |
possibly damaging |
Het |
Kcnk5 |
A |
T |
14: 20,192,117 (GRCm39) |
V348D |
probably benign |
Het |
Kcns3 |
C |
T |
12: 11,169,801 (GRCm39) |
|
probably benign |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Muc5ac |
A |
G |
7: 141,366,093 (GRCm39) |
D2787G |
possibly damaging |
Het |
Nasp |
A |
G |
4: 116,471,576 (GRCm39) |
C84R |
probably damaging |
Het |
Nfia |
G |
A |
4: 97,671,362 (GRCm39) |
R24H |
probably damaging |
Het |
Opa3 |
C |
T |
7: 18,989,466 (GRCm39) |
R110C |
probably damaging |
Het |
Or2t48 |
T |
C |
11: 58,420,590 (GRCm39) |
D74G |
probably damaging |
Het |
Or8k25 |
A |
G |
2: 86,244,099 (GRCm39) |
I99T |
probably benign |
Het |
Pdia4 |
A |
C |
6: 47,775,417 (GRCm39) |
S464R |
possibly damaging |
Het |
Rab3gap2 |
A |
G |
1: 185,009,360 (GRCm39) |
D1092G |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,730,764 (GRCm39) |
K2763E |
possibly damaging |
Het |
Sanbr |
A |
T |
11: 23,534,518 (GRCm39) |
|
probably null |
Het |
Sorbs1 |
A |
T |
19: 40,315,018 (GRCm39) |
L598Q |
probably damaging |
Het |
Sppl2b |
A |
T |
10: 80,698,807 (GRCm39) |
M154L |
probably benign |
Het |
Stk33 |
A |
G |
7: 108,920,724 (GRCm39) |
I331T |
probably damaging |
Het |
Strip2 |
A |
G |
6: 29,933,035 (GRCm39) |
E494G |
probably benign |
Het |
Supt6 |
C |
T |
11: 78,112,052 (GRCm39) |
R1010Q |
possibly damaging |
Het |
Tada1 |
G |
A |
1: 166,210,005 (GRCm39) |
R69H |
probably damaging |
Het |
Tent4a |
A |
G |
13: 69,663,915 (GRCm39) |
L268P |
probably damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tomm34 |
A |
G |
2: 163,912,385 (GRCm39) |
|
probably null |
Het |
Tpi1 |
T |
C |
6: 124,788,871 (GRCm39) |
T223A |
probably damaging |
Het |
Vgll2 |
A |
G |
10: 51,903,635 (GRCm39) |
H166R |
probably damaging |
Het |
Vmn2r107 |
A |
T |
17: 20,577,051 (GRCm39) |
I350F |
possibly damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,527,212 (GRCm39) |
K440M |
probably damaging |
Het |
Vmn2r55 |
T |
C |
7: 12,385,793 (GRCm39) |
Y729C |
possibly damaging |
Het |
Zfp106 |
G |
T |
2: 120,353,197 (GRCm39) |
A1554E |
probably damaging |
Het |
Zfyve27 |
A |
G |
19: 42,169,997 (GRCm39) |
Y176C |
probably damaging |
Het |
Zswim5 |
T |
A |
4: 116,822,941 (GRCm39) |
N470K |
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 |
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 |
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'- CTTAAAATGCAGAGCCAACGAG -3'
(R):5'- CCACCTTCTAGGAAGCAAGTTTG -3'
Sequencing Primer
(F):5'- GGGAGCCTGGCTTTAGC -3'
(R):5'- CTTCTAGGAAGCAAGTTTGAACAATG -3'
|
Posted On |
2022-02-07 |