Incidental Mutation 'R5485:Trpc2'
| ID |
432521 |
| 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 |
043046-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5485 (G1)
|
| Quality Score |
153 |
|
Status
|
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: 97.3%
- 10x: 95.1%
- 20x: 90.6%
|
| Validation Efficiency |
98% (59/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,467,378 (GRCm39) |
V85D |
probably benign |
Het |
| Abcb8 |
A |
G |
5: 24,605,159 (GRCm39) |
N115S |
probably benign |
Het |
| Appl1 |
C |
A |
14: 26,684,823 (GRCm39) |
L75F |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,100,760 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
T |
A |
8: 120,479,801 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,864,979 (GRCm39) |
I94F |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,395,643 (GRCm39) |
I194V |
possibly damaging |
Het |
| Crebbp |
A |
C |
16: 3,932,777 (GRCm39) |
D1000E |
probably benign |
Het |
| Ctdnep1 |
C |
T |
11: 69,872,316 (GRCm39) |
R3W |
possibly damaging |
Het |
| Dgkb |
T |
C |
12: 38,177,363 (GRCm39) |
V230A |
probably damaging |
Het |
| Duoxa2 |
T |
C |
2: 122,129,633 (GRCm39) |
F38L |
possibly damaging |
Het |
| Ecd |
T |
C |
14: 20,388,273 (GRCm39) |
S172G |
probably benign |
Het |
| Endog |
G |
T |
2: 30,061,663 (GRCm39) |
|
probably benign |
Het |
| Eqtn |
G |
A |
4: 94,813,193 (GRCm39) |
P131L |
possibly damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,367,767 (GRCm39) |
S290T |
possibly damaging |
Het |
| Glt8d2 |
T |
A |
10: 82,487,282 (GRCm39) |
R319S |
possibly damaging |
Het |
| Gm16686 |
A |
G |
4: 88,673,641 (GRCm39) |
|
probably benign |
Het |
| Gm5709 |
A |
T |
3: 59,542,983 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7381 |
T |
C |
8: 3,892,161 (GRCm39) |
|
noncoding transcript |
Het |
| Gorab |
T |
G |
1: 163,213,871 (GRCm39) |
D353A |
possibly damaging |
Het |
| Gstm1 |
A |
G |
3: 107,924,720 (GRCm39) |
L20P |
probably damaging |
Het |
| Hexim2 |
A |
G |
11: 103,029,884 (GRCm39) |
D312G |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 106,995,528 (GRCm39) |
|
probably null |
Het |
| Mbd4 |
C |
A |
6: 115,827,679 (GRCm39) |
A66S |
probably benign |
Het |
| Mmp27 |
T |
A |
9: 7,573,363 (GRCm39) |
W152R |
probably damaging |
Het |
| Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
| Mrps18b |
A |
T |
17: 36,225,236 (GRCm39) |
V102D |
probably damaging |
Het |
| Or10g3b |
A |
T |
14: 52,586,776 (GRCm39) |
C242* |
probably null |
Het |
| Peg10 |
T |
A |
6: 4,755,565 (GRCm39) |
M47K |
probably benign |
Het |
| Plxnc1 |
T |
G |
10: 94,758,604 (GRCm39) |
Q364P |
probably benign |
Het |
| Psd |
A |
T |
19: 46,304,528 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
G |
1: 22,522,289 (GRCm39) |
I470L |
possibly damaging |
Het |
| Sbsn |
T |
C |
7: 30,452,542 (GRCm39) |
V519A |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,964,377 (GRCm39) |
V279A |
probably benign |
Het |
| Sfxn5 |
T |
A |
6: 85,309,582 (GRCm39) |
|
probably benign |
Het |
| Slc6a13 |
T |
A |
6: 121,313,032 (GRCm39) |
M483K |
probably damaging |
Het |
| Slc6a21 |
G |
A |
7: 44,931,966 (GRCm39) |
|
probably null |
Het |
| Slco6c1 |
T |
C |
1: 97,053,481 (GRCm39) |
Y140C |
probably damaging |
Het |
| Spata32 |
A |
G |
11: 103,100,122 (GRCm39) |
S128P |
probably damaging |
Het |
| Spty2d1 |
G |
T |
7: 46,647,633 (GRCm39) |
T432K |
possibly damaging |
Het |
| Stx8 |
A |
G |
11: 67,911,792 (GRCm39) |
Q170R |
probably benign |
Het |
| Sytl3 |
G |
A |
17: 6,982,879 (GRCm39) |
V112I |
probably benign |
Het |
| Tdrkh |
A |
G |
3: 94,336,019 (GRCm39) |
I420V |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,992,711 (GRCm39) |
V457A |
probably benign |
Het |
| Tpk1 |
T |
C |
6: 43,642,746 (GRCm39) |
|
probably benign |
Het |
| Tsen54 |
A |
G |
11: 115,706,048 (GRCm39) |
E90G |
probably benign |
Het |
| Ugt1a2 |
A |
T |
1: 88,128,968 (GRCm39) |
M204L |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,567,972 (GRCm39) |
I32F |
probably benign |
Het |
| Xkr6 |
T |
C |
14: 64,056,833 (GRCm39) |
V248A |
unknown |
Het |
| Zfhx4 |
C |
A |
3: 5,308,067 (GRCm39) |
S431Y |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,723,180 (GRCm39) |
S1728T |
possibly damaging |
Het |
| Zfp563 |
T |
C |
17: 33,308,540 (GRCm39) |
|
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 |
|
|
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'- CAGTGCTGCAGTTCTTCAGG -3'
(R):5'- AGCCTAATGCAGAAGTGTGG -3'
Sequencing Primer
(F):5'- GCAGTTCTTCAGGGGTCTTTCC -3'
(R):5'- CTAATGCAGAAGTGTGGAGGGTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation