Incidental Mutation 'IGL02055:Trpc7'
ID |
185204 |
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 # |
IGL02055
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
56920911-57043778 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 57035357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 192
(R192Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022023]
[ENSMUST00000109871]
[ENSMUST00000151918]
[ENSMUST00000173817]
[ENSMUST00000174457]
|
AlphaFold |
Q9WVC5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022023
AA Change: R192Q
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000022023 Gene: ENSMUSG00000021541 AA Change: R192Q
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 benign
Transcript: ENSMUST00000109871
AA Change: R192Q
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000105497 Gene: ENSMUSG00000021541 AA Change: R192Q
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
AA Change: R192Q
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000119809 Gene: ENSMUSG00000021541 AA Change: R192Q
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 |
unknown
Transcript: ENSMUST00000173067
AA Change: R191Q
|
SMART Domains |
Protein: ENSMUSP00000134481 Gene: ENSMUSG00000021541 AA Change: R191Q
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 |
unknown
Transcript: ENSMUST00000173466
AA Change: R191Q
|
SMART Domains |
Protein: ENSMUSP00000134285 Gene: ENSMUSG00000021541 AA Change: R191Q
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: R191Q
|
SMART Domains |
Protein: ENSMUSP00000134662 Gene: ENSMUSG00000021541 AA Change: R191Q
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 benign
Transcript: ENSMUST00000173817
AA Change: R192Q
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000133411 Gene: ENSMUSG00000021541 AA Change: R192Q
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174457
AA Change: R192Q
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000133305 Gene: ENSMUSG00000021541 AA Change: R192Q
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 |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap1b1 |
T |
A |
11: 4,974,452 (GRCm39) |
C353* |
probably null |
Het |
Asl |
C |
T |
5: 130,041,891 (GRCm39) |
G309R |
possibly damaging |
Het |
B4galnt4 |
T |
C |
7: 140,650,731 (GRCm39) |
F835S |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,177,457 (GRCm39) |
T1921A |
probably damaging |
Het |
Carmil2 |
A |
G |
8: 106,423,539 (GRCm39) |
|
probably benign |
Het |
Ccnt2 |
C |
A |
1: 127,719,447 (GRCm39) |
P116T |
possibly damaging |
Het |
Clcn1 |
T |
G |
6: 42,284,489 (GRCm39) |
M609R |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,119,015 (GRCm39) |
I1858T |
probably damaging |
Het |
Eefsec |
T |
C |
6: 88,353,385 (GRCm39) |
I95V |
probably damaging |
Het |
Galk2 |
A |
G |
2: 125,773,324 (GRCm39) |
K252R |
probably benign |
Het |
Gbp2 |
A |
T |
3: 142,337,991 (GRCm39) |
N369I |
probably benign |
Het |
Glis2 |
G |
T |
16: 4,431,972 (GRCm39) |
|
probably benign |
Het |
Igdcc3 |
T |
C |
9: 65,088,562 (GRCm39) |
V388A |
possibly damaging |
Het |
Klhl1 |
A |
G |
14: 96,517,539 (GRCm39) |
F379S |
possibly damaging |
Het |
Or5b12 |
T |
A |
19: 12,896,930 (GRCm39) |
I248F |
possibly damaging |
Het |
Pigm |
C |
T |
1: 172,204,732 (GRCm39) |
S156L |
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,277,703 (GRCm39) |
|
probably null |
Het |
Ppp6r3 |
A |
G |
19: 3,571,781 (GRCm39) |
F123L |
probably benign |
Het |
Pum1 |
C |
A |
4: 130,481,365 (GRCm39) |
S637R |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,422,745 (GRCm39) |
S112P |
probably damaging |
Het |
Serpina3k |
A |
T |
12: 104,307,295 (GRCm39) |
K176* |
probably null |
Het |
Smad4 |
A |
G |
18: 73,774,999 (GRCm39) |
|
probably benign |
Het |
Tas2r140 |
T |
A |
6: 40,468,493 (GRCm39) |
F108I |
probably damaging |
Het |
Tbc1d20 |
G |
A |
2: 152,149,978 (GRCm39) |
R73H |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,817,673 (GRCm39) |
|
probably null |
Het |
Tmem86b |
A |
C |
7: 4,631,762 (GRCm39) |
|
probably benign |
Het |
Trav6-4 |
G |
A |
14: 53,692,237 (GRCm39) |
V115I |
probably benign |
Het |
Trim37 |
T |
G |
11: 87,057,475 (GRCm39) |
V303G |
probably benign |
Het |
Ush1g |
T |
C |
11: 115,208,925 (GRCm39) |
D423G |
possibly damaging |
Het |
Veph1 |
T |
A |
3: 66,113,048 (GRCm39) |
D252V |
possibly damaging |
Het |
Vmn1r181 |
T |
G |
7: 23,683,978 (GRCm39) |
L148V |
probably damaging |
Het |
Vmn1r42 |
T |
C |
6: 89,822,571 (GRCm39) |
|
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,450,763 (GRCm39) |
H216Q |
probably benign |
Het |
Zfp39 |
A |
G |
11: 58,782,156 (GRCm39) |
V202A |
probably benign |
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 |
|
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 |
IGL02451:Trpc7
|
APN |
13 |
56,970,274 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
2014-05-07 |