Incidental Mutation 'R3938:Trpc2'
| ID |
307276 |
| 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 |
040825-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3938 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101732323-101745603 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101742781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 597
(M597K)
|
| 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 |
unknown
Transcript: ENSMUST00000084843
AA Change: M971K
|
| SMART Domains |
Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425
AA Change: M971K
| 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 |
unknown
Transcript: ENSMUST00000094129
AA Change: M971K
|
| SMART Domains |
Protein: ENSMUSP00000091679
Gene: ENSMUSG00000070425
AA Change: M971K
| 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 damaging
Transcript: ENSMUST00000124189
AA Change: M597K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116934
Gene: ENSMUSG00000100254
AA Change: M597K
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (57/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
C |
T |
16: 85,592,507 (GRCm39) |
V634M |
possibly damaging |
Het |
| Arid4b |
A |
T |
13: 14,361,513 (GRCm39) |
N659I |
probably benign |
Het |
| BC049715 |
T |
C |
6: 136,817,453 (GRCm39) |
I231T |
possibly damaging |
Het |
| Bmp4 |
T |
C |
14: 46,621,536 (GRCm39) |
Y336C |
probably damaging |
Het |
| Ccdc30 |
G |
A |
4: 119,209,870 (GRCm39) |
T293I |
probably benign |
Het |
| Chd5 |
A |
T |
4: 152,461,512 (GRCm39) |
T1275S |
probably benign |
Het |
| Chtf8 |
A |
T |
8: 107,612,537 (GRCm39) |
M134K |
probably benign |
Het |
| Col11a2 |
A |
T |
17: 34,258,599 (GRCm39) |
|
probably benign |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,684 (GRCm39) |
V216A |
probably benign |
Het |
| Dnah8 |
C |
T |
17: 31,073,911 (GRCm39) |
T4527M |
probably damaging |
Het |
| Elavl3 |
A |
G |
9: 21,930,040 (GRCm39) |
V288A |
probably damaging |
Het |
| Erap1 |
T |
A |
13: 74,816,147 (GRCm39) |
L92Q |
probably damaging |
Het |
| Exoc3l |
G |
T |
8: 106,020,037 (GRCm39) |
P296H |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,853,719 (GRCm39) |
P1561L |
probably damaging |
Het |
| Foxl3 |
A |
T |
5: 138,806,723 (GRCm39) |
N78Y |
probably damaging |
Het |
| Hacl1 |
T |
C |
14: 31,356,148 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
T |
A |
3: 93,230,162 (GRCm39) |
N133K |
probably benign |
Het |
| Itgax |
G |
T |
7: 127,735,445 (GRCm39) |
R504S |
possibly damaging |
Het |
| Itgb4 |
A |
G |
11: 115,896,752 (GRCm39) |
S1461G |
possibly damaging |
Het |
| Klkb1 |
G |
T |
8: 45,735,838 (GRCm39) |
T175K |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,596,983 (GRCm39) |
D525V |
possibly damaging |
Het |
| Lrrk2 |
C |
A |
15: 91,662,707 (GRCm39) |
T1912K |
probably damaging |
Het |
| Mdga1 |
G |
T |
17: 30,076,596 (GRCm39) |
Q59K |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,163,842 (GRCm39) |
V466A |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,200,512 (GRCm39) |
D203G |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,849,108 (GRCm39) |
S1116P |
probably damaging |
Het |
| Nemp1 |
T |
C |
10: 127,531,342 (GRCm39) |
L311P |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,196,677 (GRCm39) |
R1138G |
probably damaging |
Het |
| Nup54 |
A |
G |
5: 92,565,388 (GRCm39) |
M443T |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,167,649 (GRCm39) |
E93G |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Plekhj1 |
A |
G |
10: 80,633,609 (GRCm39) |
I76T |
probably damaging |
Het |
| Poll |
A |
G |
19: 45,546,857 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,073 (GRCm39) |
S614T |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,442,980 (GRCm39) |
I556F |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,312,294 (GRCm39) |
F1005L |
probably benign |
Het |
| Rcor3 |
G |
T |
1: 191,785,385 (GRCm39) |
T361K |
possibly damaging |
Het |
| Robo4 |
A |
G |
9: 37,313,313 (GRCm39) |
|
probably benign |
Het |
| Rps15 |
T |
C |
10: 80,129,673 (GRCm39) |
V96A |
probably benign |
Het |
| Rrm2 |
T |
A |
12: 24,759,431 (GRCm39) |
N55K |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,682,112 (GRCm39) |
Y382H |
probably benign |
Het |
| Slc25a10 |
G |
T |
11: 120,382,819 (GRCm39) |
E3* |
probably null |
Het |
| Slc7a8 |
T |
A |
14: 54,973,298 (GRCm39) |
E223V |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,194,096 (GRCm39) |
K880E |
probably benign |
Het |
| Spinkl |
T |
G |
18: 44,301,216 (GRCm39) |
M41L |
probably benign |
Het |
| Srp54a |
A |
C |
12: 55,136,042 (GRCm39) |
N19T |
probably benign |
Het |
| Sun2 |
T |
C |
15: 79,618,356 (GRCm39) |
K268E |
probably benign |
Het |
| Sytl1 |
G |
A |
4: 132,982,935 (GRCm39) |
Q359* |
probably null |
Het |
| Tlr6 |
A |
T |
5: 65,110,938 (GRCm39) |
F656L |
probably damaging |
Het |
| Tmem185a |
C |
T |
X: 69,505,792 (GRCm39) |
|
probably null |
Het |
| Tmem45a2 |
C |
T |
16: 56,859,398 (GRCm39) |
D278N |
probably benign |
Het |
| Trav7-1 |
T |
C |
14: 52,892,791 (GRCm39) |
|
probably benign |
Het |
| Ttc21a |
A |
G |
9: 119,779,882 (GRCm39) |
|
probably benign |
Het |
| Usp9y |
C |
T |
Y: 1,313,741 (GRCm39) |
M2188I |
probably damaging |
Het |
| Utrn |
C |
A |
10: 12,625,774 (GRCm39) |
|
probably null |
Het |
| Vmn1r35 |
T |
A |
6: 66,656,057 (GRCm39) |
R204S |
probably damaging |
Het |
| Zfp955b |
T |
A |
17: 33,524,390 (GRCm39) |
Y59F |
probably damaging |
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 |
|
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'- GGCTCAAAAGGCTTCATGGAC -3'
(R):5'- CCCTTGTTGTACAGAGGAGAATTTG -3'
Sequencing Primer
(F):5'- CATGGACATAGAACACCTTTGGCTG -3'
(R):5'- AGGGTCTTTGCGCCCTGTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation