Incidental Mutation 'R0443:Trpc2'
ID |
39276 |
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 |
MMRRC Submission |
038644-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0443 (G1)
|
Quality Score |
209 |
Status
|
Validated
(trace)
|
Chromosome |
7 |
Chromosomal Location |
101732323-101745603 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 101742727 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084843]
[ENSMUST00000094128]
[ENSMUST00000094129]
[ENSMUST00000106934]
[ENSMUST00000106935]
[ENSMUST00000106937]
[ENSMUST00000123372]
[ENSMUST00000139104]
[ENSMUST00000124189]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084843
|
SMART Domains |
Protein: ENSMUSP00000081903 Gene: ENSMUSG00000070425
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 benign
Transcript: ENSMUST00000094129
|
SMART Domains |
Protein: ENSMUSP00000091679 Gene: ENSMUSG00000070425
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 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 |
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: ENSMUST00000124189
|
SMART Domains |
Protein: ENSMUSP00000116934 Gene: ENSMUSG00000100254
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
96% (52/54) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3b |
G |
T |
5: 26,053,409 (GRCm39) |
R246L |
probably damaging |
Het |
Adam18 |
T |
C |
8: 25,119,653 (GRCm39) |
|
probably null |
Het |
Ankhd1 |
A |
G |
18: 36,777,652 (GRCm39) |
S1612G |
possibly damaging |
Het |
Caskin1 |
C |
T |
17: 24,724,374 (GRCm39) |
A1054V |
probably damaging |
Het |
Casz1 |
T |
C |
4: 149,033,368 (GRCm39) |
V1380A |
possibly damaging |
Het |
Ccn2 |
T |
C |
10: 24,471,701 (GRCm39) |
|
probably benign |
Het |
Cnot6l |
T |
G |
5: 96,239,604 (GRCm39) |
|
probably benign |
Het |
Crat |
T |
C |
2: 30,293,640 (GRCm39) |
|
probably benign |
Het |
Cux2 |
C |
T |
5: 122,025,500 (GRCm39) |
R56H |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
G |
T |
9: 7,167,244 (GRCm39) |
|
probably null |
Het |
Epg5 |
T |
C |
18: 77,999,118 (GRCm39) |
|
probably benign |
Het |
Ergic3 |
G |
A |
2: 155,858,707 (GRCm39) |
V278M |
probably benign |
Het |
Fam20b |
A |
T |
1: 156,509,023 (GRCm39) |
D396E |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,594,633 (GRCm39) |
|
probably benign |
Het |
Golga1 |
A |
T |
2: 38,908,453 (GRCm39) |
S749T |
probably damaging |
Het |
Gsdma2 |
C |
T |
11: 98,548,514 (GRCm39) |
T255I |
probably damaging |
Het |
Itga1 |
T |
A |
13: 115,128,996 (GRCm39) |
D554V |
probably benign |
Het |
Itgam |
C |
T |
7: 127,680,806 (GRCm39) |
A245V |
probably damaging |
Het |
Kcnk15 |
A |
G |
2: 163,700,243 (GRCm39) |
T161A |
probably benign |
Het |
Map3k19 |
A |
T |
1: 127,750,152 (GRCm39) |
N1066K |
probably benign |
Het |
Ms4a6b |
A |
G |
19: 11,499,044 (GRCm39) |
I53V |
possibly damaging |
Het |
Mtf1 |
C |
T |
4: 124,718,075 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,051,489 (GRCm39) |
|
probably null |
Het |
Nop9 |
A |
G |
14: 55,991,205 (GRCm39) |
S621G |
probably benign |
Het |
Or1e19 |
A |
G |
11: 73,316,581 (GRCm39) |
V76A |
probably damaging |
Het |
Or5p60 |
A |
G |
7: 107,724,023 (GRCm39) |
V149A |
probably benign |
Het |
Or9a2 |
T |
A |
6: 41,748,829 (GRCm39) |
I135F |
possibly damaging |
Het |
Pacs1 |
A |
T |
19: 5,322,611 (GRCm39) |
Y102* |
probably null |
Het |
Pcdhb10 |
A |
C |
18: 37,545,485 (GRCm39) |
D187A |
probably damaging |
Het |
Pih1d2 |
A |
G |
9: 50,532,403 (GRCm39) |
R170G |
possibly damaging |
Het |
Pikfyve |
A |
G |
1: 65,235,865 (GRCm39) |
H179R |
probably damaging |
Het |
Pknox1 |
A |
G |
17: 31,811,193 (GRCm39) |
S156G |
probably damaging |
Het |
Prkcz |
T |
A |
4: 155,353,597 (GRCm39) |
D250V |
probably damaging |
Het |
Psg16 |
T |
A |
7: 16,829,088 (GRCm39) |
I224N |
probably benign |
Het |
Ro60 |
A |
G |
1: 143,641,661 (GRCm39) |
|
probably benign |
Het |
Slc25a40 |
T |
A |
5: 8,497,348 (GRCm39) |
S229T |
probably benign |
Het |
Slc43a2 |
T |
C |
11: 75,435,493 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Tas2r129 |
G |
T |
6: 132,928,159 (GRCm39) |
C32F |
probably benign |
Het |
Tfap2d |
C |
T |
1: 19,174,591 (GRCm39) |
R15C |
possibly damaging |
Het |
Tonsl |
T |
C |
15: 76,523,884 (GRCm39) |
S39G |
probably benign |
Het |
Ttc17 |
A |
G |
2: 94,208,439 (GRCm39) |
F144S |
probably benign |
Het |
Twnk |
G |
T |
19: 44,996,578 (GRCm39) |
G337V |
possibly damaging |
Het |
Uvssa |
A |
G |
5: 33,546,168 (GRCm39) |
R180G |
possibly damaging |
Het |
Vmn1r197 |
T |
A |
13: 22,512,241 (GRCm39) |
I54K |
possibly damaging |
Het |
Vmn1r71 |
G |
A |
7: 10,482,238 (GRCm39) |
T84I |
probably benign |
Het |
Zbtb49 |
T |
C |
5: 38,358,174 (GRCm39) |
E693G |
probably benign |
Het |
|
Other mutations in Trpc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R6379:Trpc2
|
UTSW |
7 |
101,745,298 (GRCm39) |
nonsense |
probably null |
|
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'- AAGTGTCCATATTCACAAGGGTGGC -3'
(R):5'- GCGCACAGAGCATTAGACTTGGAG -3'
Sequencing Primer
(F):5'- GGGTGGCTCAAAAGGCTTC -3'
(R):5'- CATTAGACTTGGAGTCTGCCCATAG -3'
|
Posted On |
2013-05-23 |