Incidental Mutation 'R7031:Trpc3'
ID |
546313 |
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 |
045132-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7031 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
36674626-36744276 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 36675459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 893
(I893S)
|
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: I893S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029271 Gene: ENSMUSG00000027716 AA Change: I893S
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: 99.7%
- 20x: 99.1%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,833,058 (GRCm39) |
N39S |
probably benign |
Het |
Abca13 |
C |
T |
11: 9,571,892 (GRCm39) |
R4818C |
probably damaging |
Het |
Acadsb |
A |
G |
7: 131,045,366 (GRCm39) |
I433V |
probably benign |
Het |
Acsl3 |
T |
A |
1: 78,666,000 (GRCm39) |
I142N |
probably benign |
Het |
Api5 |
G |
A |
2: 94,255,961 (GRCm39) |
T242M |
probably benign |
Het |
Brme1 |
C |
A |
8: 84,893,313 (GRCm39) |
P160Q |
possibly damaging |
Het |
Ccdc88c |
T |
C |
12: 100,911,323 (GRCm39) |
E37G |
probably damaging |
Het |
Cfap96 |
T |
C |
8: 46,421,140 (GRCm39) |
I128V |
probably benign |
Het |
Cntnap4 |
C |
A |
8: 113,584,874 (GRCm39) |
Q1104K |
probably benign |
Het |
Cry1 |
A |
G |
10: 84,984,526 (GRCm39) |
S183P |
probably benign |
Het |
Cuzd1 |
A |
T |
7: 130,910,580 (GRCm39) |
F572I |
probably benign |
Het |
Dcbld1 |
A |
T |
10: 52,166,985 (GRCm39) |
D104V |
probably damaging |
Het |
Dhh |
C |
T |
15: 98,791,907 (GRCm39) |
G367E |
possibly damaging |
Het |
Dhx15 |
T |
C |
5: 52,341,931 (GRCm39) |
D129G |
probably benign |
Het |
Drd3 |
T |
A |
16: 43,582,861 (GRCm39) |
V86E |
probably damaging |
Het |
Ebf1 |
A |
G |
11: 44,512,795 (GRCm39) |
T135A |
possibly damaging |
Het |
Epha5 |
T |
C |
5: 84,290,159 (GRCm39) |
I428V |
probably benign |
Het |
Epx |
T |
A |
11: 87,766,349 (GRCm39) |
|
probably benign |
Het |
Fam83d |
T |
A |
2: 158,627,227 (GRCm39) |
N305K |
probably benign |
Het |
Gchfr |
T |
A |
2: 119,000,236 (GRCm39) |
V39D |
probably benign |
Het |
Ggnbp2 |
A |
G |
11: 84,751,467 (GRCm39) |
L111P |
probably damaging |
Het |
Gnal |
G |
A |
18: 67,355,659 (GRCm39) |
G340D |
probably damaging |
Het |
Gpat2 |
A |
G |
2: 127,277,395 (GRCm39) |
E745G |
probably damaging |
Het |
Gpbp1l1 |
C |
T |
4: 116,450,045 (GRCm39) |
R438C |
probably damaging |
Het |
Hmgxb4 |
C |
T |
8: 75,756,200 (GRCm39) |
Q171* |
probably null |
Het |
Igkv4-91 |
G |
T |
6: 68,745,542 (GRCm39) |
R119S |
possibly damaging |
Het |
Ing2 |
T |
C |
8: 48,121,858 (GRCm39) |
D230G |
probably benign |
Het |
Itfg2 |
A |
G |
6: 128,393,017 (GRCm39) |
V82A |
probably damaging |
Het |
Klhl22 |
T |
C |
16: 17,594,890 (GRCm39) |
S340P |
probably damaging |
Het |
Lipm |
A |
T |
19: 34,093,871 (GRCm39) |
M263L |
probably benign |
Het |
Ly96 |
A |
T |
1: 16,758,787 (GRCm39) |
E19V |
possibly damaging |
Het |
Mark1 |
C |
T |
1: 184,644,829 (GRCm39) |
E376K |
possibly damaging |
Het |
Mlip |
T |
A |
9: 77,045,835 (GRCm39) |
M375L |
probably benign |
Het |
Mug1 |
A |
T |
6: 121,815,673 (GRCm39) |
N26Y |
probably benign |
Het |
Or2ad1 |
C |
T |
13: 21,327,170 (GRCm39) |
S19N |
probably benign |
Het |
Or55b3 |
T |
A |
7: 102,127,057 (GRCm39) |
T7S |
probably benign |
Het |
Or5m3 |
C |
T |
2: 85,838,939 (GRCm39) |
A273V |
probably benign |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,308,690 (GRCm39) |
|
probably null |
Het |
Rgs4 |
T |
C |
1: 169,571,336 (GRCm39) |
T178A |
probably benign |
Het |
Sel1l2 |
T |
A |
2: 140,182,043 (GRCm39) |
K31N |
possibly damaging |
Het |
Serpinf1 |
T |
C |
11: 75,301,022 (GRCm39) |
R398G |
probably damaging |
Het |
Sgo2b |
C |
T |
8: 64,393,078 (GRCm39) |
E120K |
possibly damaging |
Het |
Stard9 |
T |
C |
2: 120,530,931 (GRCm39) |
F2396S |
possibly damaging |
Het |
Trgv6 |
G |
A |
13: 19,374,610 (GRCm39) |
E25K |
probably benign |
Het |
Trpc4ap |
C |
A |
2: 155,534,135 (GRCm39) |
R31L |
unknown |
Het |
Vat1l |
A |
G |
8: 114,998,172 (GRCm39) |
R239G |
possibly damaging |
Het |
Vmn1r56 |
T |
A |
7: 5,199,261 (GRCm39) |
R119* |
probably null |
Het |
Vmn2r111 |
T |
C |
17: 22,790,226 (GRCm39) |
Y260C |
probably damaging |
Het |
Zfp664 |
A |
G |
5: 124,963,070 (GRCm39) |
T155A |
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 |
|
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'- AATGGGAATCATGACCGCC -3'
(R):5'- TTGGGAAGCAAACATACTCAGATTG -3'
Sequencing Primer
(F):5'- CGCCTAGCTTAATTTTAAAGTTTCGC -3'
(R):5'- CACACAAATACCCTAGGTGA -3'
|
Posted On |
2019-05-13 |