Incidental Mutation 'R5782:Trpc2'
ID |
447803 |
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 |
043379-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5782 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
101732323-101745603 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101733186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 419
(D419G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084843]
[ENSMUST00000094129]
[ENSMUST00000094130]
[ENSMUST00000106950]
[ENSMUST00000123372]
[ENSMUST00000124189]
[ENSMUST00000139104]
[ENSMUST00000142629]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084843
AA Change: D419G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000081903 Gene: ENSMUSG00000070425 AA Change: D419G
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: D419G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000091679 Gene: ENSMUSG00000070425 AA Change: D419G
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: ENSMUST00000094130
|
SMART Domains |
Protein: ENSMUSP00000091680 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: 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: D45G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000116934 Gene: ENSMUSG00000100254 AA Change: D45G
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: ENSMUST00000125197
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140395
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153176
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143839
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142629
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl9 |
A |
T |
17: 33,652,735 (GRCm39) |
Q265L |
probably benign |
Het |
Adamtsl3 |
T |
A |
7: 82,189,494 (GRCm39) |
|
probably null |
Het |
Agt |
A |
T |
8: 125,283,870 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
A |
G |
8: 123,626,756 (GRCm39) |
L142P |
probably damaging |
Het |
Arhgef19 |
C |
A |
4: 140,983,623 (GRCm39) |
Q719K |
probably damaging |
Het |
Armh3 |
A |
G |
19: 45,874,466 (GRCm39) |
V569A |
probably benign |
Het |
Atrnl1 |
G |
T |
19: 57,741,718 (GRCm39) |
W1159L |
possibly damaging |
Het |
Atxn2 |
T |
C |
5: 121,935,373 (GRCm39) |
Y325H |
probably damaging |
Het |
Brwd1 |
A |
T |
16: 95,844,243 (GRCm39) |
Y770* |
probably null |
Het |
Cdc20 |
T |
C |
4: 118,290,239 (GRCm39) |
E474G |
probably benign |
Het |
Cdk5rap3 |
A |
G |
11: 96,802,412 (GRCm39) |
L254P |
probably benign |
Het |
Cep83 |
A |
T |
10: 94,584,894 (GRCm39) |
N333I |
probably damaging |
Het |
Cox4i2 |
A |
C |
2: 152,606,731 (GRCm39) |
D150A |
probably damaging |
Het |
Cse1l |
A |
G |
2: 166,770,921 (GRCm39) |
I314M |
probably damaging |
Het |
Cuedc1 |
A |
G |
11: 88,060,858 (GRCm39) |
Y67C |
probably damaging |
Het |
Cyp2j9 |
C |
T |
4: 96,462,142 (GRCm39) |
V380I |
probably benign |
Het |
Fancd2 |
A |
G |
6: 113,525,833 (GRCm39) |
N302S |
probably benign |
Het |
Foxa1 |
T |
A |
12: 57,589,302 (GRCm39) |
H306L |
probably benign |
Het |
Gse1 |
T |
C |
8: 121,293,260 (GRCm39) |
S204P |
probably damaging |
Het |
Hspa13 |
C |
A |
16: 75,554,985 (GRCm39) |
R367L |
probably damaging |
Het |
Kcnk2 |
T |
G |
1: 188,988,776 (GRCm39) |
D267A |
probably damaging |
Het |
Kctd18 |
A |
G |
1: 57,998,396 (GRCm39) |
Y68H |
probably damaging |
Het |
Khdc4 |
T |
G |
3: 88,618,985 (GRCm39) |
V563G |
probably damaging |
Het |
Klf7 |
C |
T |
1: 64,081,570 (GRCm39) |
E253K |
possibly damaging |
Het |
Lcn12 |
A |
T |
2: 25,383,769 (GRCm39) |
F34I |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,586,386 (GRCm39) |
R401W |
probably damaging |
Het |
Lzts1 |
A |
T |
8: 69,593,350 (GRCm39) |
S86T |
probably benign |
Het |
Mtres1 |
T |
C |
10: 43,408,899 (GRCm39) |
I81M |
probably benign |
Het |
Mtus1 |
T |
A |
8: 41,535,764 (GRCm39) |
I651F |
probably damaging |
Het |
Myl2 |
T |
A |
5: 122,242,933 (GRCm39) |
F106L |
probably damaging |
Het |
Neb |
T |
A |
2: 52,154,059 (GRCm39) |
K2351* |
probably null |
Het |
Or14c45 |
T |
A |
7: 86,176,421 (GRCm39) |
I152N |
probably damaging |
Het |
Or52e5 |
T |
C |
7: 104,718,956 (GRCm39) |
I94T |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Parg |
A |
T |
14: 31,996,862 (GRCm39) |
R318* |
probably null |
Het |
Pcdhga3 |
C |
T |
18: 37,809,353 (GRCm39) |
S602F |
possibly damaging |
Het |
Pcnx2 |
A |
G |
8: 126,480,223 (GRCm39) |
V2028A |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,128,824 (GRCm39) |
T3960A |
probably benign |
Het |
Psen1 |
T |
A |
12: 83,759,233 (GRCm39) |
H81Q |
possibly damaging |
Het |
Psma6 |
A |
G |
12: 55,457,041 (GRCm39) |
N109S |
possibly damaging |
Het |
Ptpro |
A |
T |
6: 137,376,496 (GRCm39) |
I659F |
possibly damaging |
Het |
Rap1gds1 |
C |
G |
3: 138,664,840 (GRCm39) |
E288D |
possibly damaging |
Het |
Reln |
C |
T |
5: 22,223,054 (GRCm39) |
R993K |
probably benign |
Het |
Saxo1 |
T |
A |
4: 86,364,044 (GRCm39) |
L146F |
probably damaging |
Het |
Six4 |
A |
G |
12: 73,150,832 (GRCm39) |
V571A |
probably benign |
Het |
Slc2a10 |
C |
A |
2: 165,356,758 (GRCm39) |
Y139* |
probably null |
Het |
Slc34a1 |
A |
G |
13: 55,550,501 (GRCm39) |
I66V |
possibly damaging |
Het |
Slfn8 |
G |
T |
11: 82,907,867 (GRCm39) |
N46K |
probably damaging |
Het |
Smc6 |
G |
C |
12: 11,340,835 (GRCm39) |
A496P |
probably damaging |
Het |
Stk31 |
T |
G |
6: 49,446,070 (GRCm39) |
N902K |
probably benign |
Het |
Stk36 |
T |
A |
1: 74,644,584 (GRCm39) |
Y114N |
possibly damaging |
Het |
Sult2b1 |
C |
T |
7: 45,380,770 (GRCm39) |
V271M |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,542,246 (GRCm39) |
I1920V |
probably benign |
Het |
Trbc2 |
A |
G |
6: 41,523,871 (GRCm39) |
|
probably benign |
Het |
Trpm7 |
T |
C |
2: 126,639,634 (GRCm39) |
N1654S |
probably benign |
Het |
Tsku |
A |
T |
7: 98,002,057 (GRCm39) |
D91E |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,606,355 (GRCm39) |
R18151S |
probably damaging |
Het |
Tyr |
C |
T |
7: 87,142,224 (GRCm39) |
C112Y |
probably damaging |
Het |
Ubash3a |
G |
A |
17: 31,454,477 (GRCm39) |
G435S |
probably benign |
Het |
Vav1 |
T |
C |
17: 57,603,001 (GRCm39) |
I51T |
probably damaging |
Het |
Vmn2r61 |
T |
A |
7: 41,949,253 (GRCm39) |
C558S |
probably damaging |
Het |
Zan |
C |
T |
5: 137,418,269 (GRCm39) |
C2943Y |
unknown |
Het |
Zfp1002 |
T |
C |
2: 150,097,438 (GRCm39) |
E25G |
probably benign |
Het |
Zfp267 |
T |
C |
3: 36,219,128 (GRCm39) |
S384P |
possibly damaging |
Het |
Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
Zfp575 |
C |
A |
7: 24,285,027 (GRCm39) |
G205C |
possibly damaging |
Het |
Zfp740 |
G |
T |
15: 102,116,801 (GRCm39) |
|
probably benign |
Het |
Zzz3 |
A |
G |
3: 152,133,737 (GRCm39) |
E265G |
possibly 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 |
|
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'- ACAGTATGTGTTGCCGATCTG -3'
(R):5'- TTTGTGTCCACAGCCACTAG -3'
Sequencing Primer
(F):5'- CGAGGAAGGCATGATAGCTGATTAC -3'
(R):5'- ACTAGCAGGGCTTCGTGGATC -3'
|
Posted On |
2016-12-15 |