Incidental Mutation 'R6572:Trpc2'
ID |
526280 |
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 |
044696-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6572 (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 A
at 101739213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 528
(I528N)
|
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: I902N
|
SMART Domains |
Protein: ENSMUSP00000081903 Gene: ENSMUSG00000070425 AA Change: I902N
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: I902N
|
SMART Domains |
Protein: ENSMUSP00000091679 Gene: ENSMUSG00000070425 AA Change: I902N
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: I528N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116934 Gene: ENSMUSG00000100254 AA Change: I528N
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
97% (62/64) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
C |
T |
15: 37,425,961 (GRCm39) |
Q34* |
probably null |
Het |
Adamts3 |
T |
A |
5: 90,009,468 (GRCm39) |
H65L |
possibly damaging |
Het |
Ago2 |
A |
G |
15: 72,998,826 (GRCm39) |
V257A |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,985,340 (GRCm39) |
K2208R |
probably damaging |
Het |
Apc2 |
C |
T |
10: 80,147,613 (GRCm39) |
S860L |
probably damaging |
Het |
Arhgap18 |
A |
G |
10: 26,722,412 (GRCm39) |
|
probably null |
Het |
Arhgap33 |
T |
C |
7: 30,226,635 (GRCm39) |
E524G |
probably damaging |
Het |
Ascc3 |
C |
T |
10: 50,566,343 (GRCm39) |
Q763* |
probably null |
Het |
Atg2a |
T |
C |
19: 6,304,695 (GRCm39) |
L1184P |
probably damaging |
Het |
Baiap2l1 |
A |
G |
5: 144,223,112 (GRCm39) |
L75P |
probably damaging |
Het |
Btbd17 |
A |
T |
11: 114,683,046 (GRCm39) |
L222Q |
probably damaging |
Het |
Chst13 |
G |
T |
6: 90,286,588 (GRCm39) |
R125S |
probably benign |
Het |
Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
Cracr2a |
T |
C |
6: 127,585,715 (GRCm39) |
|
probably null |
Het |
Dchs1 |
T |
A |
7: 105,408,013 (GRCm39) |
T1940S |
possibly damaging |
Het |
Ddit4l |
G |
T |
3: 137,332,111 (GRCm39) |
R159L |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,866,674 (GRCm39) |
Y679H |
probably damaging |
Het |
Dyrk4 |
T |
G |
6: 126,874,201 (GRCm39) |
I130L |
probably benign |
Het |
Eml2 |
T |
C |
7: 18,930,539 (GRCm39) |
V373A |
possibly damaging |
Het |
Entrep1 |
A |
T |
19: 23,962,082 (GRCm39) |
M307K |
possibly damaging |
Het |
Ephb1 |
A |
G |
9: 101,944,097 (GRCm39) |
F312L |
probably benign |
Het |
Fndc9 |
A |
T |
11: 46,128,708 (GRCm39) |
I76F |
probably damaging |
Het |
Frk |
G |
A |
10: 34,459,963 (GRCm39) |
R186K |
probably benign |
Het |
Gpatch3 |
G |
T |
4: 133,302,191 (GRCm39) |
G41C |
probably damaging |
Het |
Greb1l |
T |
A |
18: 10,522,131 (GRCm39) |
H633Q |
probably benign |
Het |
Gstt4 |
T |
A |
10: 75,650,954 (GRCm39) |
T223S |
probably damaging |
Het |
Hpd |
C |
T |
5: 123,318,739 (GRCm39) |
E60K |
probably benign |
Het |
Inpp5d |
C |
T |
1: 87,623,118 (GRCm39) |
P403S |
probably damaging |
Het |
Klk1b9 |
T |
A |
7: 43,629,159 (GRCm39) |
I189K |
probably benign |
Het |
Kmt2e |
A |
T |
5: 23,702,579 (GRCm39) |
H239L |
possibly damaging |
Het |
Lrriq3 |
A |
G |
3: 154,887,312 (GRCm39) |
D344G |
probably benign |
Het |
Neb |
A |
G |
2: 52,168,859 (GRCm39) |
I1892T |
probably damaging |
Het |
Neto2 |
A |
T |
8: 86,397,033 (GRCm39) |
I73N |
possibly damaging |
Het |
Nipal3 |
A |
T |
4: 135,174,564 (GRCm39) |
S396T |
probably benign |
Het |
Or1e35 |
A |
G |
11: 73,797,629 (GRCm39) |
S230P |
possibly damaging |
Het |
Or51q1c |
T |
A |
7: 103,648,391 (GRCm39) |
|
probably null |
Het |
Phf20l1 |
T |
A |
15: 66,481,396 (GRCm39) |
V264D |
probably damaging |
Het |
Pigs |
A |
G |
11: 78,230,190 (GRCm39) |
Y319C |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,571,824 (GRCm39) |
Y608H |
probably damaging |
Het |
Ppard |
G |
T |
17: 28,516,093 (GRCm39) |
E106* |
probably null |
Het |
Pramel11 |
C |
T |
4: 143,621,943 (GRCm39) |
V471I |
possibly damaging |
Het |
Pramel16 |
A |
G |
4: 143,676,262 (GRCm39) |
S281P |
probably benign |
Het |
Psenen |
T |
C |
7: 30,261,773 (GRCm39) |
T48A |
probably benign |
Het |
Ralgps2 |
A |
T |
1: 156,651,620 (GRCm39) |
|
probably null |
Het |
Ripk4 |
T |
A |
16: 97,547,105 (GRCm39) |
R323* |
probably null |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Scgb2b24 |
T |
A |
7: 33,437,902 (GRCm39) |
E68D |
probably damaging |
Het |
Setx |
A |
G |
2: 29,063,706 (GRCm39) |
D2334G |
possibly damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,072,643 (GRCm39) |
D497G |
possibly damaging |
Het |
Smarca2 |
A |
T |
19: 26,656,573 (GRCm39) |
I850F |
possibly damaging |
Het |
Smyd1 |
A |
G |
6: 71,202,396 (GRCm39) |
Y270H |
probably damaging |
Het |
Spidr |
T |
A |
16: 15,730,380 (GRCm39) |
|
probably null |
Het |
Srms |
T |
C |
2: 180,854,450 (GRCm39) |
D39G |
probably benign |
Het |
Tshr |
A |
G |
12: 91,505,134 (GRCm39) |
I691V |
probably benign |
Het |
Urb1 |
A |
C |
16: 90,584,302 (GRCm39) |
V560G |
probably benign |
Het |
Usp37 |
A |
G |
1: 74,534,941 (GRCm39) |
S2P |
possibly damaging |
Het |
Vmn1r60 |
G |
A |
7: 5,547,599 (GRCm39) |
S167F |
probably benign |
Het |
Vmn2r89 |
G |
A |
14: 51,693,450 (GRCm39) |
V267I |
probably damaging |
Het |
Washc3 |
T |
A |
10: 88,049,568 (GRCm39) |
D63E |
probably benign |
Het |
Wdr89 |
A |
G |
12: 75,680,159 (GRCm39) |
S32P |
probably damaging |
Het |
Zfp157 |
T |
C |
5: 138,455,313 (GRCm39) |
S504P |
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 |
|
R5782:Trpc2
|
UTSW |
7 |
101,733,186 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6379:Trpc2
|
UTSW |
7 |
101,745,298 (GRCm39) |
nonsense |
probably null |
|
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'- AGCTGGTGAGGAGCCTGC -3'
(R):5'- CTGCTGGGGTTCACAGTCC -3'
Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- CATGGAGCTGAGGATTTCA -3'
|
Posted On |
2018-06-22 |