Incidental Mutation 'R6379:Trpc2'
ID |
515203 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trpc2
|
Ensembl Gene |
ENSMUSG00000100254 |
Gene Name |
transient receptor potential cation channel, subfamily C, member 2 |
Synonyms |
Trrp2, TRPC2a, 3010009O07Rik, mTrp2, trp2, TRPC2b |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6379 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
101732323-101745603 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 101745298 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 838
(L838*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116934
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084843]
[ENSMUST00000094128]
[ENSMUST00000094129]
[ENSMUST00000106934]
[ENSMUST00000106935]
[ENSMUST00000106937]
[ENSMUST00000123372]
[ENSMUST00000124189]
[ENSMUST00000139104]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000084843
AA Change: L1212*
|
SMART Domains |
Protein: ENSMUSP00000081903 Gene: ENSMUSG00000070425 AA Change: L1212*
Domain | Start | End | E-Value | Type |
Pfam:XRCC1_N
|
1 |
150 |
1.4e-54 |
PFAM |
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
low complexity region
|
275 |
280 |
N/A |
INTRINSIC |
low complexity region
|
297 |
311 |
N/A |
INTRINSIC |
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
low complexity region
|
403 |
415 |
N/A |
INTRINSIC |
low complexity region
|
416 |
428 |
N/A |
INTRINSIC |
ANK
|
439 |
469 |
1.58e3 |
SMART |
low complexity region
|
484 |
496 |
N/A |
INTRINSIC |
ANK
|
522 |
551 |
1.74e0 |
SMART |
Pfam:TRP_2
|
557 |
619 |
1e-24 |
PFAM |
Pfam:Ion_trans
|
716 |
1024 |
1.7e-24 |
PFAM |
Pfam:PKD_channel
|
774 |
1019 |
2.4e-12 |
PFAM |
low complexity region
|
1070 |
1081 |
N/A |
INTRINSIC |
low complexity region
|
1093 |
1104 |
N/A |
INTRINSIC |
coiled coil region
|
1122 |
1162 |
N/A |
INTRINSIC |
low complexity region
|
1220 |
1236 |
N/A |
INTRINSIC |
low complexity region
|
1247 |
1263 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094128
|
SMART Domains |
Protein: ENSMUSP00000091678 Gene: ENSMUSG00000070424
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:ART
|
29 |
255 |
3.6e-96 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000094129
AA Change: L1212*
|
SMART Domains |
Protein: ENSMUSP00000091679 Gene: ENSMUSG00000070425 AA Change: L1212*
Domain | Start | End | E-Value | Type |
Pfam:XRCC1_N
|
1 |
152 |
1.2e-27 |
PFAM |
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
low complexity region
|
275 |
280 |
N/A |
INTRINSIC |
low complexity region
|
297 |
311 |
N/A |
INTRINSIC |
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
low complexity region
|
403 |
415 |
N/A |
INTRINSIC |
low complexity region
|
416 |
428 |
N/A |
INTRINSIC |
ANK
|
439 |
469 |
1.58e3 |
SMART |
low complexity region
|
484 |
496 |
N/A |
INTRINSIC |
ANK
|
522 |
551 |
1.74e0 |
SMART |
Pfam:TRP_2
|
557 |
619 |
2.8e-28 |
PFAM |
transmembrane domain
|
719 |
741 |
N/A |
INTRINSIC |
Pfam:PKD_channel
|
772 |
1019 |
3.8e-12 |
PFAM |
Pfam:Ion_trans
|
796 |
1012 |
3.9e-31 |
PFAM |
low complexity region
|
1070 |
1081 |
N/A |
INTRINSIC |
low complexity region
|
1093 |
1104 |
N/A |
INTRINSIC |
coiled coil region
|
1122 |
1162 |
N/A |
INTRINSIC |
low complexity region
|
1220 |
1236 |
N/A |
INTRINSIC |
low complexity region
|
1247 |
1263 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106934
|
SMART Domains |
Protein: ENSMUSP00000102547 Gene: ENSMUSG00000070424
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:ART
|
29 |
117 |
3.7e-29 |
PFAM |
Pfam:ART
|
114 |
157 |
6.5e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106935
|
SMART Domains |
Protein: ENSMUSP00000102548 Gene: ENSMUSG00000070424
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:ART
|
29 |
146 |
2.1e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106937
|
SMART Domains |
Protein: ENSMUSP00000102550 Gene: ENSMUSG00000070424
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:ART
|
29 |
255 |
1.9e-96 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123372
|
SMART Domains |
Protein: ENSMUSP00000121068 Gene: ENSMUSG00000070425
Domain | Start | End | E-Value | Type |
Pfam:XRCC1_N
|
1 |
152 |
5.2e-29 |
PFAM |
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
low complexity region
|
275 |
280 |
N/A |
INTRINSIC |
low complexity region
|
297 |
311 |
N/A |
INTRINSIC |
internal_repeat_1
|
324 |
345 |
2.69e-6 |
PROSPERO |
low complexity region
|
346 |
379 |
N/A |
INTRINSIC |
internal_repeat_1
|
380 |
401 |
2.69e-6 |
PROSPERO |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000124189
AA Change: L838*
|
SMART Domains |
Protein: ENSMUSP00000116934 Gene: ENSMUSG00000100254 AA Change: L838*
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
ANK
|
65 |
95 |
1.58e3 |
SMART |
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
ANK
|
148 |
177 |
1.74e0 |
SMART |
Pfam:TRP_2
|
183 |
245 |
9.1e-29 |
PFAM |
transmembrane domain
|
345 |
367 |
N/A |
INTRINSIC |
Pfam:PKD_channel
|
398 |
645 |
1.4e-12 |
PFAM |
Pfam:Ion_trans
|
422 |
638 |
1e-31 |
PFAM |
low complexity region
|
696 |
707 |
N/A |
INTRINSIC |
low complexity region
|
719 |
730 |
N/A |
INTRINSIC |
coiled coil region
|
748 |
788 |
N/A |
INTRINSIC |
low complexity region
|
846 |
862 |
N/A |
INTRINSIC |
low complexity region
|
873 |
889 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155078
|
SMART Domains |
Protein: ENSMUSP00000123466 Gene: ENSMUSG00000070425
Domain | Start | End | E-Value | Type |
Pfam:XRCC1_N
|
1 |
62 |
4.4e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139104
|
SMART Domains |
Protein: ENSMUSP00000122430 Gene: ENSMUSG00000070425
Domain | Start | End | E-Value | Type |
Pfam:XRCC1_N
|
1 |
62 |
3.5e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211553
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice exhibit altered sexual and social behavior, including intermale mounting and a lack of aggressive behavior in the presence of invading males. Homozygotes for another allele show increased triglyceride levels in both males and femalesand increased cholesterol in males. [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 |
6820408C15Rik |
A |
T |
2: 152,269,912 (GRCm39) |
R21S |
probably benign |
Het |
Aadacl4fm1 |
G |
T |
4: 144,248,912 (GRCm39) |
R93L |
probably benign |
Het |
Adcy5 |
A |
T |
16: 35,114,369 (GRCm39) |
T991S |
probably benign |
Het |
Aldh18a1 |
A |
T |
19: 40,566,214 (GRCm39) |
|
probably null |
Het |
Anxa1 |
T |
C |
19: 20,351,079 (GRCm39) |
*347W |
probably null |
Het |
Aopep |
T |
A |
13: 63,216,057 (GRCm39) |
I443K |
probably damaging |
Het |
Arid1a |
G |
T |
4: 133,408,238 (GRCm39) |
L2090I |
unknown |
Het |
Armh3 |
A |
T |
19: 45,910,136 (GRCm39) |
V472D |
possibly damaging |
Het |
Bambi |
T |
A |
18: 3,512,198 (GRCm39) |
L194Q |
probably damaging |
Het |
Card9 |
A |
G |
2: 26,246,789 (GRCm39) |
V353A |
probably damaging |
Het |
Ccdc198 |
T |
A |
14: 49,481,191 (GRCm39) |
I99F |
probably benign |
Het |
Ccdc60 |
C |
A |
5: 116,269,082 (GRCm39) |
|
probably null |
Het |
Ccdc71 |
A |
G |
9: 108,340,811 (GRCm39) |
K208R |
possibly damaging |
Het |
Cdh12 |
T |
C |
15: 21,492,743 (GRCm39) |
V254A |
probably benign |
Het |
Cep295nl |
T |
A |
11: 118,224,556 (GRCm39) |
N96I |
probably benign |
Het |
Ces1f |
C |
A |
8: 94,006,279 (GRCm39) |
C17F |
probably benign |
Het |
Clic6 |
C |
A |
16: 92,336,423 (GRCm39) |
T577K |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 8,012,996 (GRCm39) |
M1019V |
probably benign |
Het |
Ctnnd2 |
C |
A |
15: 30,634,844 (GRCm39) |
S73Y |
probably damaging |
Het |
Daam1 |
C |
T |
12: 71,998,712 (GRCm39) |
L556F |
unknown |
Het |
Dchs2 |
A |
C |
3: 83,262,453 (GRCm39) |
N2907T |
probably damaging |
Het |
Dlgap3 |
A |
C |
4: 127,128,767 (GRCm39) |
E829A |
probably damaging |
Het |
Dpysl5 |
A |
T |
5: 30,935,317 (GRCm39) |
|
probably null |
Het |
Draxin |
C |
A |
4: 148,192,400 (GRCm39) |
C304F |
probably damaging |
Het |
Eif3j1 |
A |
G |
2: 121,878,005 (GRCm39) |
D131G |
possibly damaging |
Het |
Fads1 |
T |
C |
19: 10,160,551 (GRCm39) |
Y46H |
probably damaging |
Het |
Fcgbpl1 |
A |
C |
7: 27,857,017 (GRCm39) |
T2122P |
probably damaging |
Het |
Figla |
T |
A |
6: 85,995,562 (GRCm39) |
I72K |
probably damaging |
Het |
Fnbp4 |
T |
A |
2: 90,581,468 (GRCm39) |
S174T |
probably benign |
Het |
Foxn3 |
C |
A |
12: 99,162,537 (GRCm39) |
A455S |
probably benign |
Het |
Fyn |
C |
T |
10: 39,331,070 (GRCm39) |
|
probably benign |
Het |
Gtse1 |
G |
A |
15: 85,748,425 (GRCm39) |
G277S |
probably benign |
Het |
H2bc15 |
T |
A |
13: 21,938,588 (GRCm39) |
V99E |
probably benign |
Het |
Icam4 |
C |
A |
9: 20,941,078 (GRCm39) |
A110E |
probably damaging |
Het |
Itih3 |
G |
A |
14: 30,631,681 (GRCm39) |
S802L |
probably damaging |
Het |
Kcng4 |
T |
A |
8: 120,360,359 (GRCm39) |
R6* |
probably null |
Het |
Kmt2c |
A |
T |
5: 25,564,339 (GRCm39) |
C977S |
probably damaging |
Het |
Lrrc8d |
A |
T |
5: 105,960,675 (GRCm39) |
M362L |
probably benign |
Het |
Mtus2 |
T |
C |
5: 148,014,008 (GRCm39) |
I267T |
probably benign |
Het |
Nab1 |
A |
G |
1: 52,520,156 (GRCm39) |
V275A |
probably damaging |
Het |
Nfasc |
G |
A |
1: 132,498,280 (GRCm39) |
Q1308* |
probably null |
Het |
Nop9 |
T |
C |
14: 55,983,249 (GRCm39) |
S7P |
possibly damaging |
Het |
Npbwr1 |
G |
T |
1: 5,987,438 (GRCm39) |
N25K |
probably benign |
Het |
Nptx2 |
T |
C |
5: 144,490,252 (GRCm39) |
L227P |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 33,373,749 (GRCm39) |
|
probably benign |
Het |
Nup160 |
T |
A |
2: 90,532,753 (GRCm39) |
C571* |
probably null |
Het |
Nynrin |
T |
C |
14: 56,107,848 (GRCm39) |
L985P |
probably damaging |
Het |
Obsl1 |
A |
C |
1: 75,479,787 (GRCm39) |
L341R |
probably damaging |
Het |
Or1r1 |
T |
G |
11: 73,875,099 (GRCm39) |
S112R |
probably damaging |
Het |
Pate7 |
T |
A |
9: 35,689,381 (GRCm39) |
|
probably benign |
Het |
Phip |
G |
T |
9: 82,795,910 (GRCm39) |
N570K |
probably damaging |
Het |
Pigx |
A |
T |
16: 31,903,341 (GRCm39) |
I240N |
probably damaging |
Het |
Platr25 |
T |
C |
13: 62,854,051 (GRCm39) |
D37G |
probably damaging |
Het |
Ppl |
A |
T |
16: 4,915,555 (GRCm39) |
M639K |
probably benign |
Het |
Scnn1b |
T |
G |
7: 121,514,551 (GRCm39) |
M441R |
probably benign |
Het |
Sh3gl1 |
A |
T |
17: 56,326,143 (GRCm39) |
M121K |
probably damaging |
Het |
Slc30a4 |
A |
T |
2: 122,531,469 (GRCm39) |
V132D |
probably damaging |
Het |
Slc38a7 |
A |
G |
8: 96,575,155 (GRCm39) |
S42P |
probably benign |
Het |
Slc66a1 |
G |
A |
4: 139,027,296 (GRCm39) |
L349F |
probably benign |
Het |
Srp68 |
A |
G |
11: 116,156,227 (GRCm39) |
C172R |
probably damaging |
Het |
Suz12 |
A |
T |
11: 79,906,014 (GRCm39) |
D292V |
possibly damaging |
Het |
Sv2b |
A |
T |
7: 74,786,048 (GRCm39) |
D457E |
possibly damaging |
Het |
Tas2r120 |
T |
C |
6: 132,634,773 (GRCm39) |
V285A |
probably benign |
Het |
Tdo2 |
T |
A |
3: 81,866,102 (GRCm39) |
|
probably benign |
Het |
Them7 |
G |
T |
2: 105,115,031 (GRCm39) |
|
probably null |
Het |
Tnip2 |
T |
C |
5: 34,660,979 (GRCm39) |
T158A |
probably damaging |
Het |
Tonsl |
C |
T |
15: 76,513,942 (GRCm39) |
R1209H |
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,848,942 (GRCm39) |
I63V |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,814,828 (GRCm39) |
N90K |
probably benign |
Het |
Ylpm1 |
C |
T |
12: 85,077,574 (GRCm39) |
S1433F |
probably damaging |
Het |
Zbtb18 |
A |
G |
1: 177,275,141 (GRCm39) |
D158G |
probably damaging |
Het |
Zfhx2 |
T |
A |
14: 55,311,795 (GRCm39) |
T300S |
probably benign |
Het |
Zscan2 |
T |
A |
7: 80,513,085 (GRCm39) |
D23E |
probably benign |
Het |
|
Other mutations in Trpc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0443:Trpc2
|
UTSW |
7 |
101,742,727 (GRCm39) |
splice site |
probably benign |
|
R0601:Trpc2
|
UTSW |
7 |
101,733,572 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1303:Trpc2
|
UTSW |
7 |
101,737,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R1493:Trpc2
|
UTSW |
7 |
101,739,783 (GRCm39) |
missense |
probably damaging |
0.97 |
R1579:Trpc2
|
UTSW |
7 |
101,733,447 (GRCm39) |
missense |
probably damaging |
0.99 |
R1829:Trpc2
|
UTSW |
7 |
101,733,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R2010:Trpc2
|
UTSW |
7 |
101,743,780 (GRCm39) |
missense |
probably benign |
|
R3103:Trpc2
|
UTSW |
7 |
101,744,441 (GRCm39) |
missense |
possibly damaging |
0.74 |
R3738:Trpc2
|
UTSW |
7 |
101,733,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R3739:Trpc2
|
UTSW |
7 |
101,733,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R3938:Trpc2
|
UTSW |
7 |
101,742,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R3945:Trpc2
|
UTSW |
7 |
101,737,486 (GRCm39) |
missense |
possibly damaging |
0.52 |
R3951:Trpc2
|
UTSW |
7 |
101,742,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R3970:Trpc2
|
UTSW |
7 |
101,733,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R4035:Trpc2
|
UTSW |
7 |
101,733,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R4234:Trpc2
|
UTSW |
7 |
101,737,342 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4329:Trpc2
|
UTSW |
7 |
101,736,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R4531:Trpc2
|
UTSW |
7 |
101,745,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R4857:Trpc2
|
UTSW |
7 |
101,733,176 (GRCm39) |
missense |
probably benign |
0.18 |
R5058:Trpc2
|
UTSW |
7 |
101,738,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R5093:Trpc2
|
UTSW |
7 |
101,744,390 (GRCm39) |
missense |
probably benign |
|
R5485:Trpc2
|
UTSW |
7 |
101,744,420 (GRCm39) |
frame shift |
probably null |
|
R5486:Trpc2
|
UTSW |
7 |
101,744,420 (GRCm39) |
frame shift |
probably null |
|
R5487:Trpc2
|
UTSW |
7 |
101,744,420 (GRCm39) |
frame shift |
probably null |
|
R5782:Trpc2
|
UTSW |
7 |
101,733,186 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6572:Trpc2
|
UTSW |
7 |
101,739,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R6674:Trpc2
|
UTSW |
7 |
101,745,264 (GRCm39) |
missense |
probably benign |
0.36 |
R7513:Trpc2
|
UTSW |
7 |
101,739,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R7962:Trpc2
|
UTSW |
7 |
101,738,388 (GRCm39) |
missense |
probably benign |
0.05 |
R8209:Trpc2
|
UTSW |
7 |
101,737,482 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8226:Trpc2
|
UTSW |
7 |
101,737,482 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8798:Trpc2
|
UTSW |
7 |
101,733,767 (GRCm39) |
missense |
probably benign |
0.40 |
R8990:Trpc2
|
UTSW |
7 |
101,745,195 (GRCm39) |
missense |
probably benign |
0.01 |
R9124:Trpc2
|
UTSW |
7 |
101,745,090 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9186:Trpc2
|
UTSW |
7 |
101,737,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R9330:Trpc2
|
UTSW |
7 |
101,739,764 (GRCm39) |
missense |
probably benign |
0.35 |
R9364:Trpc2
|
UTSW |
7 |
101,739,819 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9391:Trpc2
|
UTSW |
7 |
101,745,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R9644:Trpc2
|
UTSW |
7 |
101,744,439 (GRCm39) |
missense |
possibly damaging |
0.92 |
RF020:Trpc2
|
UTSW |
7 |
101,745,433 (GRCm39) |
missense |
unknown |
|
Z1176:Trpc2
|
UTSW |
7 |
101,744,504 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGTGTCTCGACTGCAAAGC -3'
(R):5'- CAGCTGCACTTAGTGACAGAAG -3'
Sequencing Primer
(F):5'- TCTCGACTGCAAAGCGAGGTG -3'
(R):5'- GAAGAGACCCTTCTGTTGCCTTAG -3'
|
Posted On |
2018-05-04 |