Incidental Mutation 'R7156:Trpc7'
| ID |
557334 |
| 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 |
045257-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R7156 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
56920911-57043778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56937579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 626
(S626T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022023]
[ENSMUST00000109871]
[ENSMUST00000151918]
[ENSMUST00000173817]
[ENSMUST00000174457]
|
| AlphaFold |
Q9WVC5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022023
AA Change: S626T
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: S626T
| 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 |
possibly damaging
Transcript: ENSMUST00000109871
AA Change: S626T
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: S626T
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000134662
Gene: ENSMUSG00000021541
AA Change: S509T
| 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 |
possibly damaging
Transcript: ENSMUST00000173817
AA Change: S565T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: S565T
| 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 |
possibly damaging
Transcript: ENSMUST00000174457
AA Change: S571T
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: S571T
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (81/81) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
C |
7: 40,643,282 (GRCm39) |
I317T |
possibly damaging |
Het |
| Acsl5 |
G |
A |
19: 55,257,260 (GRCm39) |
|
probably null |
Het |
| Ahrr |
G |
A |
13: 74,378,035 (GRCm39) |
T136I |
probably damaging |
Het |
| AI597479 |
G |
A |
1: 43,150,261 (GRCm39) |
D124N |
probably damaging |
Het |
| Arap2 |
G |
T |
5: 62,761,914 (GRCm39) |
A1604D |
probably damaging |
Het |
| Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,688,955 (GRCm39) |
N118S |
probably benign |
Het |
| Caskin1 |
T |
A |
17: 24,719,657 (GRCm39) |
|
probably null |
Het |
| Cc2d1a |
C |
T |
8: 84,862,389 (GRCm39) |
V684M |
possibly damaging |
Het |
| Ccdc91 |
T |
C |
6: 147,435,676 (GRCm39) |
S87P |
possibly damaging |
Het |
| Cdr2l |
A |
G |
11: 115,281,792 (GRCm39) |
Q99R |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,715,203 (GRCm39) |
L2066P |
possibly damaging |
Het |
| Cep95 |
A |
C |
11: 106,700,050 (GRCm39) |
L313F |
possibly damaging |
Het |
| Chst10 |
G |
A |
1: 38,913,088 (GRCm39) |
T63M |
probably damaging |
Het |
| Clrn2 |
G |
A |
5: 45,611,258 (GRCm39) |
G36R |
probably damaging |
Het |
| Cnn2 |
T |
G |
10: 79,830,349 (GRCm39) |
Y273* |
probably null |
Het |
| Crtap |
T |
C |
9: 114,207,164 (GRCm39) |
T365A |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,171,964 (GRCm39) |
T735A |
possibly damaging |
Het |
| Disp2 |
C |
T |
2: 118,622,292 (GRCm39) |
A1008V |
probably damaging |
Het |
| Dmrt3 |
A |
G |
19: 25,588,317 (GRCm39) |
D52G |
probably damaging |
Het |
| Dmrta1 |
T |
G |
4: 89,576,700 (GRCm39) |
L52R |
probably damaging |
Het |
| Dmrta2 |
A |
G |
4: 109,839,185 (GRCm39) |
T311A |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,230,479 (GRCm39) |
N112Y |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,064,858 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
G |
5: 110,833,229 (GRCm39) |
F2034L |
unknown |
Het |
| F12 |
G |
A |
13: 55,566,310 (GRCm39) |
A494V |
probably damaging |
Het |
| Fbp2 |
A |
T |
13: 62,989,675 (GRCm39) |
F210L |
probably benign |
Het |
| Fbxo31 |
T |
A |
8: 122,281,060 (GRCm39) |
Q362L |
possibly damaging |
Het |
| Fkbp4 |
C |
T |
6: 128,412,787 (GRCm39) |
A95T |
probably benign |
Het |
| Frmd6 |
T |
G |
12: 70,923,983 (GRCm39) |
C80W |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,813,085 (GRCm39) |
I3135V |
probably benign |
Het |
| Garre1 |
G |
T |
7: 33,945,133 (GRCm39) |
N582K |
possibly damaging |
Het |
| Guca2b |
T |
A |
4: 119,514,887 (GRCm39) |
E34V |
probably damaging |
Het |
| Hdlbp |
G |
A |
1: 93,341,637 (GRCm39) |
T974I |
probably damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,617,653 (GRCm39) |
M460K |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,429,419 (GRCm39) |
V581M |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,549,189 (GRCm39) |
K313R |
possibly damaging |
Het |
| Ints4 |
T |
A |
7: 97,184,493 (GRCm39) |
|
probably null |
Het |
| Iqca1l |
C |
T |
5: 24,757,648 (GRCm39) |
E150K |
probably benign |
Het |
| Kif21b |
A |
C |
1: 136,075,562 (GRCm39) |
T230P |
probably damaging |
Het |
| Kit |
A |
T |
5: 75,776,034 (GRCm39) |
Y272F |
probably benign |
Het |
| Krt77 |
G |
A |
15: 101,773,931 (GRCm39) |
T241M |
probably benign |
Het |
| Lce1j |
T |
A |
3: 92,696,491 (GRCm39) |
S96C |
unknown |
Het |
| Marveld3 |
T |
A |
8: 110,674,820 (GRCm39) |
D332V |
probably damaging |
Het |
| Matr3 |
G |
T |
18: 35,705,974 (GRCm39) |
V300F |
probably damaging |
Het |
| Mical1 |
T |
A |
10: 41,361,253 (GRCm39) |
|
probably null |
Het |
| Mslnl |
T |
A |
17: 25,962,184 (GRCm39) |
V194E |
probably benign |
Het |
| Mug1 |
C |
A |
6: 121,857,864 (GRCm39) |
T1119K |
probably damaging |
Het |
| Mug1 |
C |
T |
6: 121,861,302 (GRCm39) |
P1308S |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,195,295 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
A |
9: 58,810,206 (GRCm39) |
T1082S |
probably damaging |
Het |
| Nkx6-2 |
C |
T |
7: 139,162,045 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
T |
C |
9: 39,934,526 (GRCm39) |
I279T |
probably benign |
Het |
| Or8k27 |
T |
A |
2: 86,275,652 (GRCm39) |
I225L |
probably damaging |
Het |
| Orc1 |
A |
T |
4: 108,452,656 (GRCm39) |
E177V |
probably benign |
Het |
| Parp1 |
G |
A |
1: 180,426,629 (GRCm39) |
V924I |
possibly damaging |
Het |
| Pax2 |
A |
T |
19: 44,777,298 (GRCm39) |
I165F |
probably benign |
Het |
| Pnma2 |
C |
T |
14: 67,153,980 (GRCm39) |
P135S |
probably benign |
Het |
| Ranbp17 |
A |
G |
11: 33,247,420 (GRCm39) |
I718T |
probably damaging |
Het |
| Rbm25 |
T |
A |
12: 83,710,965 (GRCm39) |
D359E |
unknown |
Het |
| Rgs3 |
T |
C |
4: 62,535,363 (GRCm39) |
L194P |
probably damaging |
Het |
| Serpinb6b |
A |
G |
13: 33,155,598 (GRCm39) |
I104V |
probably benign |
Het |
| Smg9 |
A |
G |
7: 24,120,286 (GRCm39) |
D420G |
probably benign |
Het |
| Smpd1 |
C |
T |
7: 105,203,693 (GRCm39) |
|
probably benign |
Het |
| Snx17 |
T |
A |
5: 31,354,692 (GRCm39) |
M318K |
probably damaging |
Het |
| Spata31e5 |
A |
T |
1: 28,815,848 (GRCm39) |
M728K |
possibly damaging |
Het |
| Stard10 |
G |
A |
7: 100,995,258 (GRCm39) |
D337N |
probably damaging |
Het |
| Tex14 |
A |
G |
11: 87,375,545 (GRCm39) |
T103A |
probably damaging |
Het |
| Tle1 |
A |
G |
4: 72,088,953 (GRCm39) |
S97P |
probably benign |
Het |
| Tnfrsf8 |
T |
A |
4: 145,041,654 (GRCm39) |
M1L |
unknown |
Het |
| Traf3ip2 |
T |
C |
10: 39,502,173 (GRCm39) |
L107P |
possibly damaging |
Het |
| Ubl7 |
T |
A |
9: 57,837,039 (GRCm39) |
I350N |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,851,967 (GRCm39) |
I1878N |
probably damaging |
Het |
| Usp24 |
G |
T |
4: 106,245,116 (GRCm39) |
|
probably null |
Het |
| Vcan |
A |
T |
13: 89,837,229 (GRCm39) |
S2772T |
possibly damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,686,851 (GRCm39) |
V744A |
probably damaging |
Het |
| Wbp2nl |
T |
C |
15: 82,189,903 (GRCm39) |
S32P |
probably damaging |
Het |
| Wwc1 |
A |
G |
11: 35,788,201 (GRCm39) |
|
probably null |
Het |
| Zfp629 |
C |
T |
7: 127,211,463 (GRCm39) |
W115* |
probably null |
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 |
|
|
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 |
|
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'- CTCACCTCGATTTCCTGATAGG -3'
(R):5'- TGCGAGAGTCTTTCCAAGTC -3'
Sequencing Primer
(F):5'- GAGTTGTTGATCATGGCTATCAGC -3'
(R):5'- GCACCTCAATATTTCAGAGTGTAGGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation