Incidental Mutation 'R6750:Trpc3'
| ID |
530680 |
| 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 |
044867-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6750 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36674626-36744276 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36678542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 848
(Y848H)
|
| 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: Y848H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: Y848H
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129322
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
100% (75/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
T |
2: 120,973,130 (GRCm39) |
L62F |
probably damaging |
Het |
| Akap13 |
C |
T |
7: 75,389,206 (GRCm39) |
P2375S |
probably benign |
Het |
| Apob |
T |
A |
12: 8,047,853 (GRCm39) |
L931Q |
probably damaging |
Het |
| Arcn1 |
A |
G |
9: 44,661,691 (GRCm39) |
V391A |
possibly damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,437,222 (GRCm39) |
I1729N |
possibly damaging |
Het |
| Cd24a |
T |
C |
10: 43,458,721 (GRCm39) |
L86P |
unknown |
Het |
| Cdcp3 |
T |
A |
7: 130,889,974 (GRCm39) |
|
probably benign |
Het |
| Churc1 |
C |
A |
12: 76,822,405 (GRCm39) |
H71Q |
probably damaging |
Het |
| Clcn3 |
A |
G |
8: 61,367,809 (GRCm39) |
L780P |
possibly damaging |
Het |
| Cldn17 |
C |
T |
16: 88,303,195 (GRCm39) |
G178E |
possibly damaging |
Het |
| Cmah |
A |
G |
13: 24,648,235 (GRCm39) |
Y345C |
probably damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,202,224 (GRCm39) |
S357L |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,660,879 (GRCm39) |
I410T |
probably damaging |
Het |
| Crmp1 |
T |
C |
5: 37,422,666 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
A |
C |
4: 128,091,018 (GRCm39) |
N186H |
possibly damaging |
Het |
| Cyp1a1 |
A |
T |
9: 57,607,539 (GRCm39) |
M56L |
probably benign |
Het |
| D2hgdh |
G |
C |
1: 93,754,129 (GRCm39) |
R56P |
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,128,034 (GRCm39) |
E104G |
probably damaging |
Het |
| Dld |
T |
C |
12: 31,382,213 (GRCm39) |
N498S |
probably benign |
Het |
| Dyrk4 |
G |
T |
6: 126,875,918 (GRCm39) |
Q106K |
probably benign |
Het |
| Eif2b4 |
T |
C |
5: 31,347,304 (GRCm39) |
I333V |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,021,076 (GRCm39) |
T1184A |
possibly damaging |
Het |
| Fbxl6 |
C |
T |
15: 76,422,612 (GRCm39) |
G102D |
probably damaging |
Het |
| Foxa1 |
C |
T |
12: 57,589,396 (GRCm39) |
G275R |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,179,575 (GRCm39) |
I2944T |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,117 (GRCm39) |
D95G |
probably benign |
Het |
| Greb1 |
T |
A |
12: 16,738,584 (GRCm39) |
M1460L |
probably benign |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,747,195 (GRCm39) |
I444T |
probably damaging |
Het |
| Ifngr1 |
T |
A |
10: 19,485,099 (GRCm39) |
M366K |
probably benign |
Het |
| Krt27 |
C |
T |
11: 99,239,806 (GRCm39) |
E253K |
probably damaging |
Het |
| Mical2 |
C |
T |
7: 111,981,046 (GRCm39) |
T406I |
probably damaging |
Het |
| Mocs2 |
T |
G |
13: 114,962,784 (GRCm39) |
D156E |
probably damaging |
Het |
| Mprip |
A |
T |
11: 59,586,957 (GRCm39) |
K43N |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,750,106 (GRCm39) |
T190S |
possibly damaging |
Het |
| Naa25 |
C |
T |
5: 121,546,372 (GRCm39) |
T86M |
probably damaging |
Het |
| Ncam1 |
T |
C |
9: 49,478,639 (GRCm39) |
D163G |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,329,468 (GRCm39) |
Y908* |
probably null |
Het |
| Nlrp9b |
T |
A |
7: 19,757,159 (GRCm39) |
L132* |
probably null |
Het |
| Nrg1 |
A |
C |
8: 32,308,124 (GRCm39) |
S679A |
probably damaging |
Het |
| Or1j1 |
C |
A |
2: 36,702,954 (GRCm39) |
R50M |
possibly damaging |
Het |
| Or52p1 |
C |
T |
7: 104,267,320 (GRCm39) |
R145C |
probably damaging |
Het |
| Paqr9 |
A |
T |
9: 95,443,050 (GRCm39) |
T347S |
probably damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,647,501 (GRCm39) |
L210P |
probably damaging |
Het |
| Pdzd7 |
T |
G |
19: 45,016,187 (GRCm39) |
D978A |
probably benign |
Het |
| Phf8-ps |
A |
T |
17: 33,285,372 (GRCm39) |
S477T |
possibly damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,923,217 (GRCm39) |
S17T |
unknown |
Het |
| Plcz1 |
T |
C |
6: 139,974,164 (GRCm39) |
K93E |
possibly damaging |
Het |
| Pom121l2 |
G |
C |
13: 22,166,107 (GRCm39) |
R126P |
probably damaging |
Het |
| Prkg1 |
C |
T |
19: 31,741,961 (GRCm39) |
E88K |
probably benign |
Het |
| Psme4 |
A |
T |
11: 30,803,203 (GRCm39) |
D15V |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,088,928 (GRCm39) |
V625A |
probably benign |
Het |
| Rab27a |
G |
A |
9: 72,992,290 (GRCm39) |
S106N |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,129,802 (GRCm39) |
T261A |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,118,269 (GRCm39) |
D487G |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,330,030 (GRCm39) |
Y662H |
probably benign |
Het |
| Sema3d |
T |
A |
5: 12,635,067 (GRCm39) |
L711* |
probably null |
Het |
| Septin14 |
T |
A |
5: 129,773,181 (GRCm39) |
Y152F |
probably damaging |
Het |
| Smc5 |
A |
G |
19: 23,220,004 (GRCm39) |
L411P |
probably damaging |
Het |
| Spata31e5 |
C |
A |
1: 28,816,495 (GRCm39) |
E512D |
probably damaging |
Het |
| Spg7 |
T |
A |
8: 123,800,650 (GRCm39) |
V39E |
probably damaging |
Het |
| Tas2r117 |
A |
G |
6: 132,779,817 (GRCm39) |
|
probably benign |
Het |
| Tle1 |
A |
T |
4: 72,040,687 (GRCm39) |
I631N |
probably damaging |
Het |
| Tmed3 |
T |
A |
9: 89,581,843 (GRCm39) |
S207C |
probably damaging |
Het |
| Tmem59l |
G |
A |
8: 70,939,022 (GRCm39) |
P51S |
probably benign |
Het |
| Tsen2 |
T |
C |
6: 115,526,881 (GRCm39) |
F66S |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 86,003,384 (GRCm39) |
S216R |
probably damaging |
Het |
| Usp22 |
A |
T |
11: 61,048,042 (GRCm39) |
V426E |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,875,114 (GRCm39) |
N621S |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,856,539 (GRCm39) |
T521A |
probably damaging |
Het |
| Wrnip1 |
T |
A |
13: 32,986,739 (GRCm39) |
D173E |
probably damaging |
Het |
| Zfp317 |
G |
A |
9: 19,559,100 (GRCm39) |
G438D |
probably damaging |
Het |
| Zscan10 |
T |
A |
17: 23,826,164 (GRCm39) |
S109T |
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 |
|
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'- TGTGGTGTTACCCTCCAATC -3'
(R):5'- GGTTGTGTTCCAGCAGAAAG -3'
Sequencing Primer
(F):5'- CCGTAGTTCTGGTTGACCTAGTAC -3'
(R):5'- TGTGTTCCAGCAGAAAGTAAATGAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation