Incidental Mutation 'R3931:Trpc4'
| ID |
308459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpc4
|
| Ensembl Gene |
ENSMUSG00000027748 |
| Gene Name |
transient receptor potential cation channel, subfamily C, member 4 |
| Synonyms |
Trrp4, Trp4, CCE1, STRPC4 |
| MMRRC Submission |
040918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R3931 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
54063456-54225892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54225516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 871
(D871G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029311]
[ENSMUST00000200048]
[ENSMUST00000200341]
|
| AlphaFold |
Q9QUQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029311
AA Change: D955G
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029311
Gene: ENSMUSG00000027748
AA Change: D955G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
33 |
63 |
4e-7 |
BLAST |
|
ANK
|
69 |
98 |
8.72e-1 |
SMART |
|
ANK
|
141 |
170 |
5.09e-2 |
SMART |
|
Pfam:TRP_2
|
176 |
238 |
1.2e-30 |
PFAM |
|
transmembrane domain
|
328 |
350 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
363 |
632 |
4.2e-33 |
PFAM |
|
low complexity region
|
763 |
780 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200048
AA Change: D871G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143593
Gene: ENSMUSG00000027748
AA Change: D871G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
33 |
63 |
2e-7 |
BLAST |
|
ANK
|
69 |
98 |
8.72e-1 |
SMART |
|
ANK
|
141 |
170 |
5.09e-2 |
SMART |
|
Pfam:TRP_2
|
176 |
238 |
1.1e-30 |
PFAM |
|
transmembrane domain
|
328 |
350 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
363 |
632 |
3.5e-33 |
PFAM |
|
low complexity region
|
763 |
782 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200341
|
| SMART Domains |
Protein: ENSMUSP00000142921
Gene: ENSMUSG00000027748
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
33 |
63 |
2e-7 |
BLAST |
|
ANK
|
69 |
98 |
8.72e-1 |
SMART |
|
ANK
|
141 |
170 |
5.09e-2 |
SMART |
|
Pfam:TRP_2
|
176 |
238 |
6.4e-33 |
PFAM |
|
transmembrane domain
|
331 |
351 |
N/A |
INTRINSIC |
|
transmembrane domain
|
366 |
383 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1429 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (30/30) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice exhibit a significant reduction in agonist-induced Ca2+ entry and vasorelaxation of aortic rings. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
A |
C |
6: 92,811,420 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,971,348 (GRCm39) |
L159P |
probably damaging |
Het |
| Ccnd2 |
A |
G |
6: 127,107,422 (GRCm39) |
I249T |
probably damaging |
Het |
| Cerk |
G |
T |
15: 86,039,311 (GRCm39) |
C193* |
probably null |
Het |
| Chrna2 |
A |
G |
14: 66,387,216 (GRCm39) |
E454G |
probably benign |
Het |
| Clnk |
T |
C |
5: 38,925,412 (GRCm39) |
T130A |
probably benign |
Het |
| Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,095,499 (GRCm39) |
V942E |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnai1 |
G |
A |
4: 41,604,229 (GRCm39) |
C212Y |
probably damaging |
Het |
| Dpep1 |
A |
G |
8: 123,925,518 (GRCm39) |
D57G |
possibly damaging |
Het |
| Gfm2 |
G |
A |
13: 97,311,532 (GRCm39) |
V701I |
probably benign |
Het |
| Grm1 |
C |
T |
10: 10,595,622 (GRCm39) |
A669T |
probably benign |
Het |
| Hsd3b3 |
C |
T |
3: 98,649,492 (GRCm39) |
G277D |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,522,508 (GRCm39) |
Y367C |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lipo4 |
C |
T |
19: 33,480,619 (GRCm39) |
V250I |
probably benign |
Het |
| Lrrc14 |
T |
C |
15: 76,597,765 (GRCm39) |
V165A |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,819,691 (GRCm39) |
F188L |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,003,461 (GRCm39) |
K185E |
probably benign |
Het |
| Or6n2 |
T |
A |
1: 173,897,147 (GRCm39) |
F94L |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
| Ptpn12 |
A |
G |
5: 21,206,321 (GRCm39) |
I324T |
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,311,655 (GRCm39) |
V1811E |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,051,821 (GRCm39) |
E1161G |
unknown |
Het |
| Zp2 |
T |
C |
7: 119,731,580 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Trpc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Trpc4
|
APN |
3 |
54,209,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01067:Trpc4
|
APN |
3 |
54,129,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01475:Trpc4
|
APN |
3 |
54,173,828 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01544:Trpc4
|
APN |
3 |
54,209,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01688:Trpc4
|
APN |
3 |
54,173,495 (GRCm39) |
splice site |
probably benign |
|
|
IGL02134:Trpc4
|
APN |
3 |
54,223,075 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02237:Trpc4
|
APN |
3 |
54,129,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02301:Trpc4
|
APN |
3 |
54,198,653 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02549:Trpc4
|
APN |
3 |
54,129,770 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02742:Trpc4
|
APN |
3 |
54,206,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02815:Trpc4
|
APN |
3 |
54,206,695 (GRCm39) |
splice site |
probably benign |
|
|
R0498:Trpc4
|
UTSW |
3 |
54,198,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Trpc4
|
UTSW |
3 |
54,209,511 (GRCm39) |
splice site |
probably benign |
|
|
R0609:Trpc4
|
UTSW |
3 |
54,102,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1351:Trpc4
|
UTSW |
3 |
54,102,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1595:Trpc4
|
UTSW |
3 |
54,223,236 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1623:Trpc4
|
UTSW |
3 |
54,206,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Trpc4
|
UTSW |
3 |
54,102,243 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1843:Trpc4
|
UTSW |
3 |
54,187,415 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1856:Trpc4
|
UTSW |
3 |
54,187,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1936:Trpc4
|
UTSW |
3 |
54,187,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2196:Trpc4
|
UTSW |
3 |
54,209,614 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2441:Trpc4
|
UTSW |
3 |
54,129,704 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2877:Trpc4
|
UTSW |
3 |
54,198,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3846:Trpc4
|
UTSW |
3 |
54,225,433 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4854:Trpc4
|
UTSW |
3 |
54,209,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Trpc4
|
UTSW |
3 |
54,102,217 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5284:Trpc4
|
UTSW |
3 |
54,187,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5320:Trpc4
|
UTSW |
3 |
54,206,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5973:Trpc4
|
UTSW |
3 |
54,223,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6276:Trpc4
|
UTSW |
3 |
54,225,441 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6335:Trpc4
|
UTSW |
3 |
54,224,995 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7082:Trpc4
|
UTSW |
3 |
54,206,519 (GRCm39) |
nonsense |
probably null |
|
|
R7215:Trpc4
|
UTSW |
3 |
54,102,317 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7299:Trpc4
|
UTSW |
3 |
54,225,048 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7423:Trpc4
|
UTSW |
3 |
54,225,450 (GRCm39) |
missense |
probably benign |
|
|
R7459:Trpc4
|
UTSW |
3 |
54,198,653 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7538:Trpc4
|
UTSW |
3 |
54,225,516 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7542:Trpc4
|
UTSW |
3 |
54,223,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Trpc4
|
UTSW |
3 |
54,209,640 (GRCm39) |
nonsense |
probably null |
|
|
R7868:Trpc4
|
UTSW |
3 |
54,209,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8046:Trpc4
|
UTSW |
3 |
54,102,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8164:Trpc4
|
UTSW |
3 |
54,223,226 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8235:Trpc4
|
UTSW |
3 |
54,209,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8263:Trpc4
|
UTSW |
3 |
54,129,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8438:Trpc4
|
UTSW |
3 |
54,129,674 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8854:Trpc4
|
UTSW |
3 |
54,102,122 (GRCm39) |
nonsense |
probably null |
|
|
R8987:Trpc4
|
UTSW |
3 |
54,102,132 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9023:Trpc4
|
UTSW |
3 |
54,102,254 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9196:Trpc4
|
UTSW |
3 |
54,129,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Trpc4
|
UTSW |
3 |
54,173,741 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9350:Trpc4
|
UTSW |
3 |
54,209,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9600:Trpc4
|
UTSW |
3 |
54,102,248 (GRCm39) |
nonsense |
probably null |
|
|
R9605:Trpc4
|
UTSW |
3 |
54,225,550 (GRCm39) |
missense |
probably benign |
|
|
R9644:Trpc4
|
UTSW |
3 |
54,129,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Trpc4
|
UTSW |
3 |
54,102,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9755:Trpc4
|
UTSW |
3 |
54,223,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Trpc4
|
UTSW |
3 |
54,102,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCTCAATGAACAGTGTGTGC -3'
(R):5'- AGAGGAGGGTTCATATTACTTCTGC -3'
Sequencing Primer
(F):5'- CTCAATGAACAGTGTGTGCTAGTAG -3'
(R):5'- TTACAGGTTAATATGCCACAACAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation