Incidental Mutation 'IGL01824:Trpc7'
| ID |
154624 |
| 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 |
Trrp8, TRP7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
IGL01824
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
56773113-56895993 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 56789722 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 585
(Y585*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022023]
[ENSMUST00000109871]
[ENSMUST00000151918]
[ENSMUST00000173817]
[ENSMUST00000174457]
|
| AlphaFold |
Q9WVC5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022023
AA Change: Y640*
|
| SMART Domains |
Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: Y640*
| 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 null
Transcript: ENSMUST00000109871
AA Change: Y640*
|
| SMART Domains |
Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: Y640*
| 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 |
probably null
Transcript: ENSMUST00000173513
AA Change: Y523*
|
| SMART Domains |
Protein: ENSMUSP00000134662
Gene: ENSMUSG00000021541
AA Change: Y523*
| 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 null
Transcript: ENSMUST00000173817
AA Change: Y579*
|
| SMART Domains |
Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: Y579*
| 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 null
Transcript: ENSMUST00000174457
AA Change: Y585*
|
| SMART Domains |
Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: Y585*
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17c |
G |
A |
7: 84,151,289 |
R186C |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,651,727 |
V1196A |
probably benign |
Het |
| Asah1 |
A |
T |
8: 41,349,543 |
|
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,679,130 |
W400R |
probably damaging |
Het |
| Cyp27a1 |
G |
T |
1: 74,735,881 |
E290* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,504,270 |
D2247G |
probably benign |
Het |
| Gins4 |
G |
A |
8: 23,234,768 |
Q57* |
probably null |
Het |
| Gli1 |
T |
C |
10: 127,336,527 |
D219G |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,711,716 |
C554* |
probably null |
Het |
| Gtf2ird2 |
T |
C |
5: 134,197,282 |
|
probably benign |
Het |
| Ifna15 |
T |
C |
4: 88,557,783 |
R155G |
probably benign |
Het |
| Lck |
T |
A |
4: 129,558,146 |
M14L |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,252,234 |
D322G |
probably damaging |
Het |
| Olfr1272 |
T |
A |
2: 90,281,919 |
I219F |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,754,774 |
D697E |
probably damaging |
Het |
| Pnp |
C |
T |
14: 50,951,413 |
T221I |
probably damaging |
Het |
| Ppl |
A |
G |
16: 5,087,889 |
I1514T |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,766,293 |
M523V |
probably benign |
Het |
| Sema4c |
A |
G |
1: 36,553,029 |
Y246H |
possibly damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,253,037 |
I301F |
probably benign |
Het |
| Srebf1 |
A |
G |
11: 60,204,131 |
S446P |
probably benign |
Het |
| Sys1 |
T |
G |
2: 164,463,305 |
L56R |
probably damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,574,667 |
Y580F |
probably benign |
Het |
| Zmym6 |
G |
T |
4: 127,108,706 |
V485F |
probably damaging |
Het |
|
| Other mutations in Trpc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00538:Trpc7
|
APN |
13 |
56773809 |
missense |
possibly damaging |
0.64 |
|
IGL00809:Trpc7
|
APN |
13 |
56822488 |
missense |
probably benign |
0.00 |
|
IGL01011:Trpc7
|
APN |
13 |
56804540 |
missense |
probably damaging |
1.00 |
|
IGL01517:Trpc7
|
APN |
13 |
56861065 |
missense |
probably damaging |
1.00 |
|
IGL02055:Trpc7
|
APN |
13 |
56887544 |
missense |
probably benign |
0.13 |
|
IGL02267:Trpc7
|
APN |
13 |
56860930 |
missense |
probably damaging |
1.00 |
|
IGL02323:Trpc7
|
APN |
13 |
56783751 |
missense |
possibly damaging |
0.91 |
|
IGL02451:Trpc7
|
APN |
13 |
56822461 |
missense |
probably damaging |
0.98 |
|
IGL02635:Trpc7
|
APN |
13 |
56776168 |
missense |
probably damaging |
1.00 |
|
IGL03335:Trpc7
|
APN |
13 |
56887691 |
missense |
probably damaging |
1.00 |
|
PIT4305001:Trpc7
|
UTSW |
13 |
56887508 |
missense |
probably benign |
0.00 |
|
R0217:Trpc7
|
UTSW |
13 |
56789768 |
nonsense |
probably null |
|
|
R0611:Trpc7
|
UTSW |
13 |
56887823 |
missense |
probably damaging |
1.00 |
|
R0919:Trpc7
|
UTSW |
13 |
56822649 |
splice site |
probably benign |
|
|
R1235:Trpc7
|
UTSW |
13 |
56887539 |
missense |
probably damaging |
1.00 |
|
R1751:Trpc7
|
UTSW |
13 |
56776143 |
missense |
probably damaging |
1.00 |
|
R4324:Trpc7
|
UTSW |
13 |
56887356 |
missense |
probably damaging |
0.99 |
|
R4649:Trpc7
|
UTSW |
13 |
56887554 |
missense |
probably damaging |
1.00 |
|
R4731:Trpc7
|
UTSW |
13 |
56804553 |
missense |
probably damaging |
1.00 |
|
R5379:Trpc7
|
UTSW |
13 |
56804550 |
missense |
probably damaging |
1.00 |
|
R5834:Trpc7
|
UTSW |
13 |
56776158 |
missense |
probably damaging |
1.00 |
|
R5985:Trpc7
|
UTSW |
13 |
56810545 |
missense |
probably damaging |
0.96 |
|
R6244:Trpc7
|
UTSW |
13 |
56773892 |
missense |
probably damaging |
1.00 |
|
R6599:Trpc7
|
UTSW |
13 |
56810380 |
splice site |
probably null |
|
|
R6778:Trpc7
|
UTSW |
13 |
56804687 |
missense |
probably damaging |
1.00 |
|
R7140:Trpc7
|
UTSW |
13 |
56789674 |
nonsense |
probably null |
|
|
R7150:Trpc7
|
UTSW |
13 |
56783696 |
missense |
probably benign |
0.00 |
|
R7156:Trpc7
|
UTSW |
13 |
56789766 |
missense |
possibly damaging |
0.61 |
|
R7238:Trpc7
|
UTSW |
13 |
56826897 |
missense |
probably benign |
0.17 |
|
R7716:Trpc7
|
UTSW |
13 |
56789760 |
missense |
probably damaging |
1.00 |
|
R7739:Trpc7
|
UTSW |
13 |
56773766 |
makesense |
probably null |
|
|
R8114:Trpc7
|
UTSW |
13 |
56804598 |
missense |
probably benign |
0.14 |
|
R8143:Trpc7
|
UTSW |
13 |
56782549 |
missense |
probably benign |
0.01 |
|
R8179:Trpc7
|
UTSW |
13 |
56887880 |
missense |
probably damaging |
1.00 |
|
R8204:Trpc7
|
UTSW |
13 |
56783796 |
missense |
probably benign |
0.06 |
|
R8262:Trpc7
|
UTSW |
13 |
56789789 |
missense |
probably benign |
0.32 |
|
R8325:Trpc7
|
UTSW |
13 |
56804711 |
missense |
probably damaging |
1.00 |
|
R8353:Trpc7
|
UTSW |
13 |
56822559 |
missense |
probably benign |
0.04 |
|
R8414:Trpc7
|
UTSW |
13 |
56822469 |
missense |
probably benign |
0.01 |
|
R8453:Trpc7
|
UTSW |
13 |
56822559 |
missense |
probably benign |
0.04 |
|
R8815:Trpc7
|
UTSW |
13 |
56822499 |
missense |
possibly damaging |
0.73 |
|
R8867:Trpc7
|
UTSW |
13 |
56860933 |
missense |
probably benign |
0.00 |
|
R8990:Trpc7
|
UTSW |
13 |
56804672 |
missense |
possibly damaging |
0.91 |
|
R9038:Trpc7
|
UTSW |
13 |
56888073 |
missense |
probably benign |
0.00 |
|
R9444:Trpc7
|
UTSW |
13 |
56776155 |
missense |
possibly damaging |
0.79 |
|
Z1177:Trpc7
|
UTSW |
13 |
56810444 |
missense |
probably benign |
0.00 |
|
Z1177:Trpc7
|
UTSW |
13 |
56822432 |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-02-04 |
Incidental Mutation