Incidental Mutation 'R5058:Trpc2'
ID |
391019 |
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 |
042648-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5058 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
101732323-101745603 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101738316 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 433
(W433R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116934
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084843]
[ENSMUST00000094129]
[ENSMUST00000123372]
[ENSMUST00000124189]
[ENSMUST00000139104]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000084843
AA Change: W807R
|
SMART Domains |
Protein: ENSMUSP00000081903 Gene: ENSMUSG00000070425 AA Change: W807R
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 |
unknown
Transcript: ENSMUST00000094129
AA Change: W807R
|
SMART Domains |
Protein: ENSMUSP00000091679 Gene: ENSMUSG00000070425 AA Change: W807R
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: 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: W433R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116934 Gene: ENSMUSG00000100254 AA Change: W433R
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.2%
|
Validation Efficiency |
100% (79/79) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
T |
C |
8: 13,292,625 (GRCm39) |
Y222C |
probably damaging |
Het |
Adprs |
A |
G |
4: 126,212,238 (GRCm39) |
S94P |
probably damaging |
Het |
Atp11b |
A |
G |
3: 35,863,510 (GRCm39) |
E202G |
probably benign |
Het |
Cacna1d |
G |
T |
14: 29,836,201 (GRCm39) |
S849* |
probably null |
Het |
Camsap1 |
T |
C |
2: 25,829,375 (GRCm39) |
D783G |
probably benign |
Het |
Cbfa2t2 |
T |
A |
2: 154,346,665 (GRCm39) |
I124N |
probably damaging |
Het |
Ccdc13 |
A |
T |
9: 121,646,613 (GRCm39) |
|
probably benign |
Het |
Cfap44 |
G |
A |
16: 44,240,567 (GRCm39) |
|
probably null |
Het |
Col17a1 |
C |
A |
19: 47,673,989 (GRCm39) |
E13* |
probably null |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dennd6b |
A |
G |
15: 89,071,553 (GRCm39) |
L288P |
possibly damaging |
Het |
Dhx37 |
A |
C |
5: 125,499,295 (GRCm39) |
Y638D |
probably benign |
Het |
Epb41 |
G |
A |
4: 131,734,746 (GRCm39) |
|
probably benign |
Het |
Esp31 |
A |
T |
17: 38,955,500 (GRCm39) |
I48L |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 15,908,154 (GRCm39) |
Q2616R |
probably damaging |
Het |
Fbxo33 |
A |
G |
12: 59,265,919 (GRCm39) |
I116T |
probably benign |
Het |
Flnb |
G |
T |
14: 7,924,262 (GRCm38) |
E1792* |
probably null |
Het |
Fzd2 |
G |
A |
11: 102,495,633 (GRCm39) |
G26R |
probably damaging |
Het |
Gm11677 |
T |
A |
11: 111,616,264 (GRCm39) |
|
noncoding transcript |
Het |
Gm7137 |
A |
T |
10: 77,623,905 (GRCm39) |
|
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,063,648 (GRCm39) |
T252A |
possibly damaging |
Het |
Hyal5 |
T |
C |
6: 24,891,484 (GRCm39) |
F433L |
probably damaging |
Het |
Kcnmb4 |
T |
A |
10: 116,299,833 (GRCm39) |
|
probably benign |
Het |
Meltf |
A |
G |
16: 31,706,421 (GRCm39) |
|
probably null |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,230,491 (GRCm39) |
D1213G |
probably benign |
Het |
Ncam1 |
A |
C |
9: 49,709,995 (GRCm39) |
F12C |
probably benign |
Het |
Nfxl1 |
A |
T |
5: 72,713,582 (GRCm39) |
D120E |
probably benign |
Het |
Nrg1 |
T |
C |
8: 32,314,587 (GRCm39) |
Q142R |
probably damaging |
Het |
Or10c1 |
A |
G |
17: 37,522,558 (GRCm39) |
L62P |
probably damaging |
Het |
Or1j18 |
T |
G |
2: 36,625,011 (GRCm39) |
L226R |
possibly damaging |
Het |
Or2h15 |
G |
A |
17: 38,441,432 (GRCm39) |
S217F |
probably damaging |
Het |
Or56a4 |
T |
C |
7: 104,806,355 (GRCm39) |
N178S |
probably damaging |
Het |
Or5k16 |
T |
C |
16: 58,736,435 (GRCm39) |
T190A |
probably benign |
Het |
Or8c10 |
C |
A |
9: 38,279,220 (GRCm39) |
T116K |
probably damaging |
Het |
Or8g30 |
C |
A |
9: 39,229,960 (GRCm39) |
V317L |
probably benign |
Het |
Or9s18 |
C |
A |
13: 65,300,743 (GRCm39) |
A235D |
possibly damaging |
Het |
Padi2 |
G |
T |
4: 140,659,432 (GRCm39) |
V246L |
probably benign |
Het |
Pgghg |
C |
T |
7: 140,522,455 (GRCm39) |
T63I |
possibly damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,162,758 (GRCm39) |
N1117S |
probably benign |
Het |
Plch1 |
G |
T |
3: 63,630,202 (GRCm39) |
T534K |
probably damaging |
Het |
Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
Polr3c |
T |
C |
3: 96,630,833 (GRCm39) |
I196V |
probably benign |
Het |
Prph |
A |
T |
15: 98,953,113 (GRCm39) |
|
probably benign |
Het |
Ptprg |
C |
A |
14: 12,037,387 (GRCm38) |
T189K |
possibly damaging |
Het |
R3hcc1 |
A |
T |
14: 69,941,463 (GRCm39) |
I183N |
probably damaging |
Het |
Rundc1 |
T |
C |
11: 101,316,363 (GRCm39) |
L145P |
probably benign |
Het |
Slc26a3 |
A |
G |
12: 31,520,964 (GRCm39) |
K723E |
possibly damaging |
Het |
Slc38a3 |
T |
C |
9: 107,536,390 (GRCm39) |
E2G |
possibly damaging |
Het |
Slc9a5 |
G |
T |
8: 106,082,490 (GRCm39) |
V252L |
probably benign |
Het |
Smim26 |
C |
T |
2: 144,437,043 (GRCm39) |
T64M |
probably benign |
Het |
Socs4 |
C |
T |
14: 47,527,589 (GRCm39) |
R175* |
probably null |
Het |
Srebf2 |
T |
C |
15: 82,066,251 (GRCm39) |
S600P |
probably damaging |
Het |
Tas2r107 |
A |
T |
6: 131,636,705 (GRCm39) |
S115T |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 36,097,907 (GRCm39) |
D447G |
possibly damaging |
Het |
Thbs2 |
T |
A |
17: 14,896,591 (GRCm39) |
D766V |
probably damaging |
Het |
Tinagl1 |
A |
G |
4: 130,061,250 (GRCm39) |
V300A |
probably benign |
Het |
Tle6 |
T |
A |
10: 81,430,072 (GRCm39) |
N332I |
possibly damaging |
Het |
Tle6 |
C |
A |
10: 81,431,791 (GRCm39) |
W151L |
probably damaging |
Het |
Tnfrsf13c |
C |
T |
15: 82,108,408 (GRCm39) |
V36M |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,016,295 (GRCm39) |
I211T |
possibly damaging |
Het |
Trp63 |
A |
G |
16: 25,701,344 (GRCm39) |
N379D |
probably damaging |
Het |
Tyw1 |
T |
A |
5: 130,305,927 (GRCm39) |
L350Q |
probably benign |
Het |
Usf3 |
T |
C |
16: 44,033,070 (GRCm39) |
L76P |
probably damaging |
Het |
Vmn2r79 |
T |
C |
7: 86,651,423 (GRCm39) |
L274P |
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 |
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'- TAGGCAGGCTGATCATTTAGACAC -3'
(R):5'- TGGTGCTGTCTGAGGCATC -3'
Sequencing Primer
(F):5'- CGACCTGAGTTCAATACCTGAGATG -3'
(R):5'- TGTCTGAGGCATCACGGCAG -3'
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Posted On |
2016-06-06 |