Incidental Mutation 'R4234:Trpc2'
| ID |
321013 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4234 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
101732323-101745603 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101737342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 752
(I752T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084843]
[ENSMUST00000094129]
[ENSMUST00000106950]
[ENSMUST00000123372]
[ENSMUST00000124189]
[ENSMUST00000139104]
[ENSMUST00000142629]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084843
AA Change: I752T
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425
AA Change: I752T
| 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 |
possibly damaging
Transcript: ENSMUST00000094129
AA Change: I752T
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091679
Gene: ENSMUSG00000070425
AA Change: I752T
| 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: ENSMUST00000106950
|
| SMART Domains |
Protein: ENSMUSP00000102563
Gene: ENSMUSG00000099481
| 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: 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: I378T
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116934
Gene: ENSMUSG00000100254
AA Change: I378T
| 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: ENSMUST00000142629
|
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,978,150 (GRCm39) |
K90* |
probably null |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Ap3s1 |
A |
T |
18: 46,912,267 (GRCm39) |
T96S |
probably benign |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Aspg |
T |
A |
12: 112,089,750 (GRCm39) |
Y429* |
probably null |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| BC034090 |
C |
T |
1: 155,117,326 (GRCm39) |
G264D |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
| Cerk |
T |
C |
15: 86,026,989 (GRCm39) |
K174E |
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,354,476 (GRCm39) |
|
probably null |
Het |
| Cyp2c23 |
G |
T |
19: 44,017,604 (GRCm39) |
T8K |
unknown |
Het |
| Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
| Dok4 |
T |
C |
8: 95,592,292 (GRCm39) |
E232G |
probably damaging |
Het |
| Dpf1 |
T |
C |
7: 29,015,057 (GRCm39) |
S304P |
probably damaging |
Het |
| Dpyd |
T |
A |
3: 119,225,233 (GRCm39) |
I1002N |
probably damaging |
Het |
| Fam107b |
T |
C |
2: 3,771,777 (GRCm39) |
S3P |
possibly damaging |
Het |
| Gm1527 |
G |
A |
3: 28,968,515 (GRCm39) |
G189D |
probably damaging |
Het |
| Hspa12b |
T |
C |
2: 130,980,932 (GRCm39) |
V162A |
probably benign |
Het |
| Lix1l |
T |
A |
3: 96,530,973 (GRCm39) |
|
probably null |
Het |
| Mdc1 |
T |
C |
17: 36,159,716 (GRCm39) |
C658R |
probably benign |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Myh15 |
G |
T |
16: 48,983,405 (GRCm39) |
V1507L |
probably benign |
Het |
| Nfe2l1 |
T |
C |
11: 96,710,735 (GRCm39) |
D210G |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,360,315 (GRCm39) |
I1539F |
probably damaging |
Het |
| Pcdhac1 |
A |
C |
18: 37,224,011 (GRCm39) |
S275R |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rbbp5 |
A |
G |
1: 132,412,496 (GRCm39) |
T20A |
probably benign |
Het |
| Rere |
T |
C |
4: 150,701,862 (GRCm39) |
V1414A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr3 |
G |
T |
2: 112,740,752 (GRCm39) |
N538K |
probably damaging |
Het |
| Serpina3j |
C |
A |
12: 104,281,445 (GRCm39) |
T206K |
probably benign |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc27a5 |
C |
A |
7: 12,722,370 (GRCm39) |
C416F |
probably benign |
Het |
| Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
| Tex30 |
A |
T |
1: 44,130,672 (GRCm39) |
I32K |
possibly damaging |
Het |
| Wnk2 |
A |
G |
13: 49,214,604 (GRCm39) |
V1314A |
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 |
|
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'- TCCCATGGTTATAAAGGAGAGATCAG -3'
(R):5'- GCTAGCCACAAGTAAAGGGC -3'
Sequencing Primer
(F):5'- ATAGAGGGCCTCATGCATACTC -3'
(R):5'- GTAAAGGGCTCTCTCATACACACCTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation