Incidental Mutation 'IGL02451:Trpc7'
ID |
293667 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trpc7
|
Ensembl Gene |
ENSMUSG00000021541 |
Gene Name |
transient receptor potential cation channel, subfamily C, member 7 |
Synonyms |
TRP7, Trrp8 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
IGL02451
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
56920911-57043778 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56970274 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 382
(S382P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022023]
[ENSMUST00000109871]
[ENSMUST00000151918]
[ENSMUST00000174457]
[ENSMUST00000173817]
|
AlphaFold |
Q9WVC5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022023
AA Change: S437P
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000022023 Gene: ENSMUSG00000021541 AA Change: S437P
Domain | Start | End | E-Value | Type |
ANK
|
42 |
71 |
1.53e3 |
SMART |
ANK
|
77 |
105 |
1.97e1 |
SMART |
ANK
|
163 |
192 |
1.32e0 |
SMART |
Pfam:TRP_2
|
198 |
260 |
6e-28 |
PFAM |
transmembrane domain
|
352 |
374 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
387 |
684 |
2.4e-34 |
PFAM |
Pfam:PKD_channel
|
427 |
679 |
5.5e-14 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109871
AA Change: S437P
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105497 Gene: ENSMUSG00000021541 AA Change: S437P
Domain | Start | End | E-Value | Type |
ANK
|
42 |
71 |
1.53e3 |
SMART |
ANK
|
77 |
105 |
1.97e1 |
SMART |
ANK
|
163 |
192 |
1.32e0 |
SMART |
Pfam:TRP_2
|
198 |
260 |
1.1e-31 |
PFAM |
transmembrane domain
|
352 |
374 |
N/A |
INTRINSIC |
transmembrane domain
|
389 |
406 |
N/A |
INTRINSIC |
Pfam:PKD_channel
|
427 |
679 |
1.6e-13 |
PFAM |
Pfam:Ion_trans
|
441 |
672 |
7e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151918
|
SMART Domains |
Protein: ENSMUSP00000119809 Gene: ENSMUSG00000021541
Domain | Start | End | E-Value | Type |
ANK
|
42 |
71 |
1.53e3 |
SMART |
ANK
|
77 |
105 |
1.97e1 |
SMART |
ANK
|
163 |
192 |
1.32e0 |
SMART |
Pfam:TRP_2
|
198 |
260 |
4.6e-32 |
PFAM |
transmembrane domain
|
352 |
374 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173067
|
SMART Domains |
Protein: ENSMUSP00000134481 Gene: ENSMUSG00000021541
Domain | Start | End | E-Value | Type |
ANK
|
42 |
71 |
1.53e3 |
SMART |
ANK
|
77 |
105 |
1.97e1 |
SMART |
ANK
|
163 |
192 |
1.32e0 |
SMART |
Pfam:TRP_2
|
198 |
260 |
5.1e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173466
|
SMART Domains |
Protein: ENSMUSP00000134285 Gene: ENSMUSG00000021541
Domain | Start | End | E-Value | Type |
ANK
|
42 |
71 |
1.53e3 |
SMART |
ANK
|
77 |
105 |
1.97e1 |
SMART |
ANK
|
163 |
192 |
1.32e0 |
SMART |
Pfam:TRP_2
|
198 |
260 |
9.5e-32 |
PFAM |
transmembrane domain
|
352 |
374 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000173513
AA Change: S320P
|
SMART Domains |
Protein: ENSMUSP00000134662 Gene: ENSMUSG00000021541 AA Change: S320P
Domain | Start | End | E-Value | Type |
ANK
|
42 |
71 |
1.53e3 |
SMART |
ANK
|
77 |
105 |
1.97e1 |
SMART |
ANK
|
163 |
192 |
1.32e0 |
SMART |
Pfam:TRP_2
|
198 |
260 |
2.5e-31 |
PFAM |
Pfam:PKD_channel
|
311 |
563 |
2.6e-13 |
PFAM |
Pfam:Ion_trans
|
325 |
556 |
1.1e-35 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174457
AA Change: S382P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133305 Gene: ENSMUSG00000021541 AA Change: S382P
Domain | Start | End | E-Value | Type |
ANK
|
42 |
71 |
1.53e3 |
SMART |
ANK
|
77 |
105 |
1.97e1 |
SMART |
ANK
|
163 |
192 |
1.32e0 |
SMART |
Pfam:TRP_2
|
198 |
260 |
2.7e-31 |
PFAM |
Pfam:PKD_channel
|
372 |
624 |
3.8e-13 |
PFAM |
Pfam:Ion_trans
|
386 |
617 |
1.3e-35 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173817
AA Change: S376P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000133411 Gene: ENSMUSG00000021541 AA Change: S376P
Domain | Start | End | E-Value | Type |
ANK
|
42 |
71 |
1.53e3 |
SMART |
ANK
|
77 |
105 |
1.97e1 |
SMART |
ANK
|
163 |
192 |
1.32e0 |
SMART |
Pfam:TRP_2
|
198 |
260 |
2.7e-31 |
PFAM |
transmembrane domain
|
291 |
313 |
N/A |
INTRINSIC |
transmembrane domain
|
328 |
345 |
N/A |
INTRINSIC |
Pfam:PKD_channel
|
366 |
618 |
3.7e-13 |
PFAM |
Pfam:Ion_trans
|
380 |
611 |
1.2e-35 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the transient receptor potential channel family of proteins, which form six-transmembrane cation-permeable channels that are calcium permeant. Knock out mice are viable but display a reduction in the gamma wave activity that precedes seizure induction in response to a muscrarinic agonist, suggesting a functional role for this protein in initiation of seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal eye physiology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
G |
5: 138,561,809 (GRCm39) |
T126P |
probably damaging |
Het |
Asic2 |
T |
C |
11: 80,782,563 (GRCm39) |
|
probably benign |
Het |
B430305J03Rik |
A |
G |
3: 61,271,562 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
G |
3: 36,664,741 (GRCm39) |
F47L |
possibly damaging |
Het |
Bcl2l14 |
G |
T |
6: 134,400,804 (GRCm39) |
G75V |
probably benign |
Het |
Btnl4 |
T |
C |
17: 34,694,901 (GRCm39) |
H4R |
probably benign |
Het |
Champ1 |
C |
A |
8: 13,928,739 (GRCm39) |
P299Q |
probably damaging |
Het |
Cimap3 |
T |
A |
3: 105,921,820 (GRCm39) |
E34D |
probably benign |
Het |
Cldnd2 |
A |
G |
7: 43,091,082 (GRCm39) |
K5E |
probably benign |
Het |
Ctr9 |
T |
A |
7: 110,642,631 (GRCm39) |
L401* |
probably null |
Het |
Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
Enpp4 |
A |
T |
17: 44,412,315 (GRCm39) |
L298H |
probably damaging |
Het |
Git1 |
T |
C |
11: 77,391,513 (GRCm39) |
C222R |
possibly damaging |
Het |
Gpam |
T |
C |
19: 55,076,635 (GRCm39) |
T189A |
probably damaging |
Het |
Hgfac |
T |
G |
5: 35,201,158 (GRCm39) |
|
probably null |
Het |
Hivep3 |
T |
A |
4: 119,991,162 (GRCm39) |
S2221T |
probably damaging |
Het |
Ifi47 |
T |
C |
11: 48,986,604 (GRCm39) |
Y124H |
probably damaging |
Het |
Il1a |
T |
C |
2: 129,148,575 (GRCm39) |
E45G |
probably damaging |
Het |
Itga11 |
T |
A |
9: 62,642,635 (GRCm39) |
I186N |
probably damaging |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Mapk13 |
A |
G |
17: 28,995,387 (GRCm39) |
T203A |
probably damaging |
Het |
Mrpl37 |
T |
A |
4: 106,923,839 (GRCm39) |
I52F |
probably damaging |
Het |
Mtrex |
C |
T |
13: 113,027,881 (GRCm39) |
V660M |
probably damaging |
Het |
Nr1i2 |
A |
G |
16: 38,069,654 (GRCm39) |
F417L |
probably benign |
Het |
Or10ag59 |
T |
A |
2: 87,405,576 (GRCm39) |
S49R |
probably benign |
Het |
Or6c215 |
G |
A |
10: 129,637,702 (GRCm39) |
Q231* |
probably null |
Het |
Osbpl1a |
T |
C |
18: 13,047,550 (GRCm39) |
|
probably benign |
Het |
Parg |
C |
T |
14: 31,964,186 (GRCm39) |
T112M |
probably damaging |
Het |
Pou6f1 |
T |
C |
15: 100,477,821 (GRCm39) |
T166A |
possibly damaging |
Het |
Prtg |
A |
G |
9: 72,764,281 (GRCm39) |
I585V |
possibly damaging |
Het |
Ptpru |
T |
G |
4: 131,504,086 (GRCm39) |
|
probably benign |
Het |
Rab6a |
T |
C |
7: 100,285,970 (GRCm39) |
|
probably null |
Het |
Rnf207 |
C |
T |
4: 152,396,869 (GRCm39) |
R425H |
probably benign |
Het |
Rusf1 |
A |
G |
7: 127,875,582 (GRCm39) |
L257P |
probably damaging |
Het |
Slc27a2 |
A |
G |
2: 126,420,912 (GRCm39) |
M468V |
probably benign |
Het |
Slc30a1 |
A |
G |
1: 191,639,441 (GRCm39) |
H108R |
possibly damaging |
Het |
Sned1 |
A |
G |
1: 93,163,930 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
A |
T |
7: 27,065,014 (GRCm39) |
F2095Y |
probably null |
Het |
Sspo |
A |
T |
6: 48,437,237 (GRCm39) |
|
probably benign |
Het |
Tbx19 |
A |
G |
1: 164,967,740 (GRCm39) |
S336P |
probably benign |
Het |
Tmem101 |
T |
A |
11: 102,044,119 (GRCm39) |
D256V |
probably damaging |
Het |
Trbv20 |
T |
G |
6: 41,165,210 (GRCm39) |
L2V |
unknown |
Het |
Tut4 |
C |
A |
4: 108,386,473 (GRCm39) |
Y1114* |
probably null |
Het |
Uhmk1 |
T |
C |
1: 170,040,095 (GRCm39) |
T91A |
possibly damaging |
Het |
Vmn2r10 |
T |
A |
5: 109,143,788 (GRCm39) |
R721* |
probably null |
Het |
Vmn2r94 |
T |
A |
17: 18,478,453 (GRCm39) |
Y98F |
possibly damaging |
Het |
Zfp532 |
A |
G |
18: 65,756,672 (GRCm39) |
R202G |
probably damaging |
Het |
Zfp827 |
T |
C |
8: 79,787,601 (GRCm39) |
S256P |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,792,214 (GRCm39) |
I2266T |
probably damaging |
Het |
|
Other mutations in Trpc7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00538:Trpc7
|
APN |
13 |
56,921,622 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL00809:Trpc7
|
APN |
13 |
56,970,301 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01011:Trpc7
|
APN |
13 |
56,952,353 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01517:Trpc7
|
APN |
13 |
57,008,878 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01824:Trpc7
|
APN |
13 |
56,937,535 (GRCm39) |
nonsense |
probably null |
|
IGL02055:Trpc7
|
APN |
13 |
57,035,357 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02267:Trpc7
|
APN |
13 |
57,008,743 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02323:Trpc7
|
APN |
13 |
56,931,564 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02635:Trpc7
|
APN |
13 |
56,923,981 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03335:Trpc7
|
APN |
13 |
57,035,504 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4305001:Trpc7
|
UTSW |
13 |
57,035,321 (GRCm39) |
missense |
probably benign |
0.00 |
R0217:Trpc7
|
UTSW |
13 |
56,937,581 (GRCm39) |
nonsense |
probably null |
|
R0611:Trpc7
|
UTSW |
13 |
57,035,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R0919:Trpc7
|
UTSW |
13 |
56,970,462 (GRCm39) |
splice site |
probably benign |
|
R1235:Trpc7
|
UTSW |
13 |
57,035,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R1751:Trpc7
|
UTSW |
13 |
56,923,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R4324:Trpc7
|
UTSW |
13 |
57,035,169 (GRCm39) |
missense |
probably damaging |
0.99 |
R4649:Trpc7
|
UTSW |
13 |
57,035,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Trpc7
|
UTSW |
13 |
56,952,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R5379:Trpc7
|
UTSW |
13 |
56,952,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R5834:Trpc7
|
UTSW |
13 |
56,923,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R5985:Trpc7
|
UTSW |
13 |
56,958,358 (GRCm39) |
missense |
probably damaging |
0.96 |
R6244:Trpc7
|
UTSW |
13 |
56,921,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R6599:Trpc7
|
UTSW |
13 |
56,958,193 (GRCm39) |
splice site |
probably null |
|
R6778:Trpc7
|
UTSW |
13 |
56,952,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R7140:Trpc7
|
UTSW |
13 |
56,937,487 (GRCm39) |
nonsense |
probably null |
|
R7150:Trpc7
|
UTSW |
13 |
56,931,509 (GRCm39) |
missense |
probably benign |
0.00 |
R7156:Trpc7
|
UTSW |
13 |
56,937,579 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7238:Trpc7
|
UTSW |
13 |
56,974,710 (GRCm39) |
missense |
probably benign |
0.17 |
R7716:Trpc7
|
UTSW |
13 |
56,937,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R7739:Trpc7
|
UTSW |
13 |
56,921,579 (GRCm39) |
makesense |
probably null |
|
R8114:Trpc7
|
UTSW |
13 |
56,952,411 (GRCm39) |
missense |
probably benign |
0.14 |
R8143:Trpc7
|
UTSW |
13 |
56,930,362 (GRCm39) |
missense |
probably benign |
0.01 |
R8179:Trpc7
|
UTSW |
13 |
57,035,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R8204:Trpc7
|
UTSW |
13 |
56,931,609 (GRCm39) |
missense |
probably benign |
0.06 |
R8262:Trpc7
|
UTSW |
13 |
56,937,602 (GRCm39) |
missense |
probably benign |
0.32 |
R8325:Trpc7
|
UTSW |
13 |
56,952,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R8353:Trpc7
|
UTSW |
13 |
56,970,372 (GRCm39) |
missense |
probably benign |
0.04 |
R8414:Trpc7
|
UTSW |
13 |
56,970,282 (GRCm39) |
missense |
probably benign |
0.01 |
R8453:Trpc7
|
UTSW |
13 |
56,970,372 (GRCm39) |
missense |
probably benign |
0.04 |
R8815:Trpc7
|
UTSW |
13 |
56,970,312 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8867:Trpc7
|
UTSW |
13 |
57,008,746 (GRCm39) |
missense |
probably benign |
0.00 |
R8990:Trpc7
|
UTSW |
13 |
56,952,485 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9038:Trpc7
|
UTSW |
13 |
57,035,886 (GRCm39) |
missense |
probably benign |
0.00 |
R9444:Trpc7
|
UTSW |
13 |
56,923,968 (GRCm39) |
missense |
possibly damaging |
0.79 |
Z1177:Trpc7
|
UTSW |
13 |
56,970,245 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Trpc7
|
UTSW |
13 |
56,958,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |