Incidental Mutation 'R8990:Trpc2'
ID |
684357 |
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 |
068822-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8990 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
101732323-101745603 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101745195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 804
(Y804H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116934
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084843]
[ENSMUST00000094128]
[ENSMUST00000106934]
[ENSMUST00000106935]
[ENSMUST00000106937]
[ENSMUST00000123372]
[ENSMUST00000124189]
[ENSMUST00000139104]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000084843
AA Change: Y1178H
|
SMART Domains |
Protein: ENSMUSP00000081903 Gene: ENSMUSG00000070425 AA Change: Y1178H
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: 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: ENSMUST00000124189
AA Change: Y804H
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000116934 Gene: ENSMUSG00000100254 AA Change: Y804H
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: 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,104,494 (GRCm39) |
V731M |
|
Het |
Ank2 |
A |
G |
3: 126,841,829 (GRCm39) |
|
probably null |
Het |
Ano8 |
G |
C |
8: 71,929,201 (GRCm39) |
P1004R |
unknown |
Het |
Aopep |
G |
A |
13: 63,304,428 (GRCm39) |
C480Y |
probably damaging |
Het |
Asnsd1 |
C |
T |
1: 53,385,901 (GRCm39) |
G491D |
probably damaging |
Het |
Atp6v1c2 |
A |
G |
12: 17,341,647 (GRCm39) |
V248A |
probably benign |
Het |
BC035947 |
C |
T |
1: 78,475,486 (GRCm39) |
V349M |
probably damaging |
Het |
Bcl2l14 |
A |
G |
6: 134,400,630 (GRCm39) |
D17G |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 36,975,370 (GRCm39) |
S681P |
possibly damaging |
Het |
Cbs |
T |
C |
17: 31,834,523 (GRCm39) |
T489A |
probably benign |
Het |
Ccdc66 |
T |
C |
14: 27,208,655 (GRCm39) |
K533R |
probably benign |
Het |
Cenpx |
A |
G |
11: 120,602,591 (GRCm39) |
F53S |
unknown |
Het |
Col4a4 |
A |
G |
1: 82,473,555 (GRCm39) |
S657P |
unknown |
Het |
Csnk2a1 |
A |
G |
2: 152,096,177 (GRCm39) |
Y50C |
probably damaging |
Het |
Ddx60 |
C |
T |
8: 62,427,168 (GRCm39) |
R748* |
probably null |
Het |
Diaph1 |
A |
T |
18: 37,988,857 (GRCm39) |
L959H |
probably damaging |
Het |
Dnaaf5 |
T |
G |
5: 139,155,951 (GRCm39) |
L544R |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,814,057 (GRCm39) |
D399G |
|
Het |
Eif2b4 |
T |
C |
5: 31,347,971 (GRCm39) |
E247G |
probably benign |
Het |
Fmnl2 |
T |
C |
2: 53,016,971 (GRCm39) |
I1050T |
unknown |
Het |
Gm10272 |
T |
A |
10: 77,542,658 (GRCm39) |
S67T |
probably damaging |
Het |
Gm32742 |
G |
A |
9: 51,058,802 (GRCm39) |
P1072S |
probably damaging |
Het |
Hdac11 |
T |
A |
6: 91,145,799 (GRCm39) |
L151* |
probably null |
Het |
Iars1 |
A |
G |
13: 49,841,752 (GRCm39) |
D80G |
possibly damaging |
Het |
Kazn |
T |
C |
4: 141,868,947 (GRCm39) |
D413G |
probably damaging |
Het |
Kcnc1 |
T |
A |
7: 46,077,733 (GRCm39) |
*512R |
probably null |
Het |
Kcnf1 |
G |
A |
12: 17,225,336 (GRCm39) |
T295I |
probably benign |
Het |
Klhl9 |
A |
G |
4: 88,640,205 (GRCm39) |
V12A |
probably benign |
Het |
Klk6 |
T |
A |
7: 43,476,254 (GRCm39) |
H31Q |
probably benign |
Het |
Ldhal6b |
A |
T |
17: 5,468,020 (GRCm39) |
S305T |
probably damaging |
Het |
Lta4h |
C |
A |
10: 93,314,315 (GRCm39) |
D462E |
probably damaging |
Het |
Ly75 |
T |
G |
2: 60,188,903 (GRCm39) |
R274S |
probably benign |
Het |
Mideas |
T |
C |
12: 84,218,380 (GRCm39) |
T527A |
probably benign |
Het |
Mn1 |
A |
G |
5: 111,566,381 (GRCm39) |
N117S |
possibly damaging |
Het |
Mrgprd |
T |
C |
7: 144,875,915 (GRCm39) |
V262A |
probably benign |
Het |
Mtres1 |
A |
G |
10: 43,401,233 (GRCm39) |
S239P |
unknown |
Het |
Muc4 |
C |
A |
16: 32,574,009 (GRCm39) |
H696N |
probably benign |
Het |
Nlrp3 |
A |
T |
11: 59,439,584 (GRCm39) |
Q387L |
probably damaging |
Het |
Nme7 |
A |
G |
1: 164,155,902 (GRCm39) |
D34G |
probably damaging |
Het |
Ntrk2 |
T |
A |
13: 59,007,988 (GRCm39) |
L250* |
probably null |
Het |
Or13p8 |
T |
C |
4: 118,584,224 (GRCm39) |
V260A |
probably benign |
Het |
Palld |
C |
T |
8: 61,968,279 (GRCm39) |
E1096K |
probably damaging |
Het |
Pcdh7 |
A |
G |
5: 57,879,364 (GRCm39) |
D973G |
probably benign |
Het |
Pced1a |
A |
G |
2: 130,264,471 (GRCm39) |
Y120H |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,824,273 (GRCm39) |
T627S |
unknown |
Het |
Pkhd1 |
A |
G |
1: 20,417,529 (GRCm39) |
S2541P |
probably benign |
Het |
Ptcd1 |
A |
G |
5: 145,102,047 (GRCm39) |
S91P |
probably damaging |
Het |
R3hdm1 |
C |
T |
1: 128,106,833 (GRCm39) |
R229C |
probably damaging |
Het |
Sectm1a |
G |
T |
11: 120,960,701 (GRCm39) |
T38K |
probably damaging |
Het |
Serpinb2 |
A |
T |
1: 107,450,428 (GRCm39) |
I142F |
probably damaging |
Het |
Slc25a39 |
A |
T |
11: 102,295,895 (GRCm39) |
V112E |
possibly damaging |
Het |
Snap23 |
G |
T |
2: 120,415,516 (GRCm39) |
|
probably benign |
Het |
Sp8 |
T |
A |
12: 118,813,122 (GRCm39) |
Y326N |
possibly damaging |
Het |
Speer4c2 |
G |
A |
5: 15,858,598 (GRCm39) |
R141C |
probably benign |
Het |
Spock1 |
A |
T |
13: 57,843,984 (GRCm39) |
|
probably null |
Het |
Trpc7 |
T |
C |
13: 56,952,485 (GRCm39) |
N562S |
possibly damaging |
Het |
Trpm6 |
G |
A |
19: 18,792,799 (GRCm39) |
G741E |
probably damaging |
Het |
Vmn1r160 |
T |
A |
7: 22,570,759 (GRCm39) |
H37Q |
probably damaging |
Het |
Vmn1r174 |
G |
T |
7: 23,453,956 (GRCm39) |
M207I |
possibly damaging |
Het |
Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
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 |
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 |
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'- CTCCCTTCTGAAAGACCTGC -3'
(R):5'- GACCCTTCTGTTGCCTTAGGAC -3'
Sequencing Primer
(F):5'- TGAAAGACCTGCCCTGATTC -3'
(R):5'- TCCCTGTGAACCAGCACATG -3'
|
Posted On |
2021-10-11 |