Incidental Mutation 'R5486:Trpc2'
ID |
430364 |
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 |
043047-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5486 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
101732323-101745603 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GTGTCCTA to GTGTCCTATGTCCTA
at 101744420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
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 null
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 null
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211553
|
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 |
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 90.4%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
Acad8 |
A |
T |
9: 26,910,791 (GRCm39) |
M1K |
probably null |
Het |
Adam12 |
C |
A |
7: 133,509,401 (GRCm39) |
R786S |
possibly damaging |
Het |
Add3 |
G |
A |
19: 53,232,818 (GRCm39) |
V604I |
probably benign |
Het |
Alpk2 |
A |
T |
18: 65,427,425 (GRCm39) |
|
probably null |
Het |
Ano3 |
T |
C |
2: 110,576,215 (GRCm39) |
D102G |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,964,524 (GRCm39) |
D2693E |
possibly damaging |
Het |
Ccdc7a |
T |
C |
8: 129,711,884 (GRCm39) |
N284D |
probably damaging |
Het |
Clic6 |
A |
G |
16: 92,326,740 (GRCm39) |
|
probably null |
Het |
Cln5 |
T |
C |
14: 103,313,630 (GRCm39) |
I294T |
probably damaging |
Het |
Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
Cyp2d9 |
T |
A |
15: 82,336,779 (GRCm39) |
W43R |
probably damaging |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Erlec1 |
A |
T |
11: 30,885,047 (GRCm39) |
H413Q |
probably damaging |
Het |
Fam168a |
T |
A |
7: 100,483,376 (GRCm39) |
M203K |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,144,507 (GRCm39) |
S4122R |
probably benign |
Het |
Fgd4 |
A |
T |
16: 16,292,901 (GRCm39) |
L272Q |
probably damaging |
Het |
Hpcal4 |
A |
G |
4: 123,084,557 (GRCm39) |
K162R |
probably benign |
Het |
Iars1 |
T |
A |
13: 49,863,049 (GRCm39) |
|
probably null |
Het |
Lbr |
A |
G |
1: 181,646,403 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
C |
2: 69,267,809 (GRCm39) |
I4259V |
probably benign |
Het |
Mcm3 |
C |
T |
1: 20,885,118 (GRCm39) |
G189S |
probably damaging |
Het |
Nr1d2 |
A |
G |
14: 18,206,860 (GRCm38) |
V137A |
possibly damaging |
Het |
Or52d1 |
C |
A |
7: 103,755,705 (GRCm39) |
T73N |
probably damaging |
Het |
Or52n3 |
T |
A |
7: 104,530,168 (GRCm39) |
C85S |
probably benign |
Het |
Or7g33 |
A |
G |
9: 19,448,590 (GRCm39) |
V212A |
probably benign |
Het |
Pim3 |
T |
C |
15: 88,747,425 (GRCm39) |
V97A |
possibly damaging |
Het |
Piwil2 |
T |
C |
14: 70,638,880 (GRCm39) |
N479S |
probably benign |
Het |
Pld3 |
C |
A |
7: 27,233,156 (GRCm39) |
W365L |
probably damaging |
Het |
Plk3 |
C |
A |
4: 116,987,600 (GRCm39) |
E412* |
probably null |
Het |
Psmd1 |
A |
G |
1: 86,064,772 (GRCm39) |
I935V |
possibly damaging |
Het |
Sh2b2 |
A |
G |
5: 136,260,944 (GRCm39) |
S91P |
probably benign |
Het |
Skor2 |
A |
G |
18: 76,946,395 (GRCm39) |
N39S |
unknown |
Het |
Slc22a22 |
A |
G |
15: 57,126,847 (GRCm39) |
V55A |
probably damaging |
Het |
Smg7 |
A |
G |
1: 152,721,927 (GRCm39) |
S595P |
probably damaging |
Het |
Snrnp200 |
C |
T |
2: 127,074,986 (GRCm39) |
P1520S |
possibly damaging |
Het |
Taar7a |
T |
A |
10: 23,868,356 (GRCm39) |
T342S |
probably benign |
Het |
Tecpr2 |
A |
T |
12: 110,899,449 (GRCm39) |
I606F |
probably benign |
Het |
Tex19.2 |
A |
T |
11: 121,008,304 (GRCm39) |
M48K |
probably benign |
Het |
Thoc1 |
A |
G |
18: 9,992,204 (GRCm39) |
T511A |
probably benign |
Het |
Ubr5 |
C |
A |
15: 38,008,983 (GRCm39) |
A1077S |
probably benign |
Het |
Wdr95 |
A |
T |
5: 149,519,795 (GRCm39) |
R571* |
probably null |
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 |
|
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'- CCAGTGCTGCAGTTCTTCAG -3'
(R):5'- GGGACTAGAGCCTAATGCAG -3'
Sequencing Primer
(F):5'- CTGCAGTTCTTCAGGGGTC -3'
(R):5'- CTAGAGCCTAATGCAGAAGTGTG -3'
|
Posted On |
2016-10-05 |