Incidental Mutation 'R1235:Trpc7'
ID |
152408 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trpc7
|
Ensembl Gene |
ENSMUSG00000021541 |
Gene Name |
transient receptor potential cation channel, subfamily C, member 7 |
Synonyms |
TRP7, Trrp8 |
MMRRC Submission |
039303-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R1235 (G1)
|
Quality Score |
186 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
56920911-57043778 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 57035352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 194
(H194N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119809
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022023]
[ENSMUST00000109871]
[ENSMUST00000151918]
[ENSMUST00000173817]
[ENSMUST00000174457]
|
AlphaFold |
Q9WVC5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022023
AA Change: H194N
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000022023 Gene: ENSMUSG00000021541 AA Change: H194N
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: H194N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105497 Gene: ENSMUSG00000021541 AA Change: H194N
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 damaging
Transcript: ENSMUST00000151918
AA Change: H194N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119809 Gene: ENSMUSG00000021541 AA Change: H194N
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: H193N
|
SMART Domains |
Protein: ENSMUSP00000134481 Gene: ENSMUSG00000021541 AA Change: H193N
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: H193N
|
SMART Domains |
Protein: ENSMUSP00000134285 Gene: ENSMUSG00000021541 AA Change: H193N
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: H193N
|
SMART Domains |
Protein: ENSMUSP00000134662 Gene: ENSMUSG00000021541 AA Change: H193N
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: ENSMUST00000173817
AA Change: H194N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000133411 Gene: ENSMUSG00000021541 AA Change: H194N
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 damaging
Transcript: ENSMUST00000174457
AA Change: H194N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133305 Gene: ENSMUSG00000021541 AA Change: H194N
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 |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arsg |
T |
C |
11: 109,424,933 (GRCm39) |
|
probably null |
Het |
Col6a1 |
C |
A |
10: 76,548,158 (GRCm39) |
A633S |
unknown |
Het |
Dnajb3 |
C |
T |
1: 88,133,201 (GRCm39) |
R67H |
probably benign |
Het |
Fam53c |
T |
A |
18: 34,901,311 (GRCm39) |
L76Q |
probably damaging |
Het |
Gys2 |
A |
T |
6: 142,376,019 (GRCm39) |
Y548N |
probably damaging |
Het |
Kcnh3 |
T |
A |
15: 99,139,984 (GRCm39) |
|
probably null |
Het |
Lrp2 |
C |
T |
2: 69,354,380 (GRCm39) |
V483I |
probably damaging |
Het |
Myom3 |
A |
T |
4: 135,516,854 (GRCm39) |
Y808F |
probably benign |
Het |
Nmur1 |
C |
T |
1: 86,314,415 (GRCm39) |
G307S |
probably damaging |
Het |
Or8w1 |
T |
G |
2: 87,465,159 (GRCm39) |
|
probably null |
Het |
Pcdhb13 |
T |
C |
18: 37,578,012 (GRCm39) |
*797Q |
probably null |
Het |
Plcb4 |
G |
A |
2: 135,814,868 (GRCm39) |
G719R |
probably damaging |
Het |
Pld1 |
A |
T |
3: 28,082,883 (GRCm39) |
T143S |
probably benign |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Sema5a |
A |
T |
15: 32,609,372 (GRCm39) |
Y426F |
probably benign |
Het |
Vmn2r106 |
A |
T |
17: 20,499,741 (GRCm39) |
F165I |
probably benign |
Het |
Zdbf2 |
A |
G |
1: 63,348,232 (GRCm39) |
T2204A |
possibly damaging |
Het |
Zp2 |
A |
T |
7: 119,737,566 (GRCm39) |
F240I |
possibly 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGCCTTTGATAGGCGCACAAC -3'
(R):5'- GAGCTGCGGGATGATGACTTCTATG -3'
Sequencing Primer
(F):5'- GATAGGCGCACAACCCATTTTG -3'
(R):5'- GATGACTTCTATGCCTACGACGAG -3'
|
Posted On |
2014-01-29 |