Incidental Mutation 'R8867:Trpc7'
| ID |
676036 |
| 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 |
068682-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R8867 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
56920911-57043778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57008746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 307
(S307N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022023]
[ENSMUST00000109871]
[ENSMUST00000151918]
[ENSMUST00000173817]
[ENSMUST00000174457]
|
| AlphaFold |
Q9WVC5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022023
AA Change: S307N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: S307N
| 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: S307N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: S307N
| 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: S307N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119809
Gene: ENSMUSG00000021541
AA Change: S307N
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000134285
Gene: ENSMUSG00000021541
AA Change: S306N
| 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 benign
Transcript: ENSMUST00000173513
|
| SMART Domains |
Protein: ENSMUSP00000134662
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 |
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
|
| SMART Domains |
Protein: ENSMUSP00000133411
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 |
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: S307N
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: S307N
| 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 |
|
| Meta Mutation Damage Score |
0.1093 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
99% (78/79) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
G |
A |
4: 73,861,087 (GRCm39) |
S171F |
probably damaging |
Het |
| A130010J15Rik |
T |
C |
1: 192,857,406 (GRCm39) |
S253P |
probably damaging |
Het |
| Acbd5 |
T |
C |
2: 22,970,370 (GRCm39) |
M97T |
possibly damaging |
Het |
| Aire |
T |
C |
10: 77,873,809 (GRCm39) |
E300G |
probably damaging |
Het |
| Ano1 |
A |
G |
7: 144,223,397 (GRCm39) |
S99P |
possibly damaging |
Het |
| Ap5z1 |
A |
G |
5: 142,463,011 (GRCm39) |
N732D |
probably benign |
Het |
| Apcs |
A |
T |
1: 172,722,004 (GRCm39) |
L114Q |
possibly damaging |
Het |
| Apmap |
T |
C |
2: 150,431,886 (GRCm39) |
|
probably benign |
Het |
| Ark2c |
T |
C |
18: 77,563,182 (GRCm39) |
E159G |
possibly damaging |
Het |
| Asxl3 |
C |
A |
18: 22,649,547 (GRCm39) |
T512N |
possibly damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,072,491 (GRCm39) |
T388A |
probably damaging |
Het |
| B3galt9 |
A |
G |
2: 34,728,636 (GRCm39) |
D145G |
probably damaging |
Het |
| Bcl2a1a |
A |
T |
9: 88,839,503 (GRCm39) |
I134L |
probably damaging |
Het |
| Chd6 |
G |
A |
2: 160,862,989 (GRCm39) |
A444V |
probably benign |
Het |
| Cmbl |
C |
A |
15: 31,582,073 (GRCm39) |
H23Q |
probably benign |
Het |
| Cnnm2 |
T |
A |
19: 46,750,996 (GRCm39) |
I262N |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,715,673 (GRCm39) |
R2260H |
unknown |
Het |
| Cracr2a |
T |
A |
6: 127,606,736 (GRCm39) |
L260* |
probably null |
Het |
| Csmd2 |
A |
G |
4: 128,451,469 (GRCm39) |
Y3409C |
|
Het |
| Cyp4b1 |
C |
T |
4: 115,493,169 (GRCm39) |
R225H |
possibly damaging |
Het |
| Dcdc2a |
C |
T |
13: 25,386,266 (GRCm39) |
A380V |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 72,998,131 (GRCm39) |
L4097P |
probably damaging |
Het |
| Dppa3 |
G |
A |
6: 122,605,602 (GRCm39) |
R52Q |
probably benign |
Het |
| Fbxo31 |
C |
T |
8: 122,281,967 (GRCm39) |
R311H |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,656,885 (GRCm39) |
R90G |
probably damaging |
Het |
| Fitm2 |
A |
T |
2: 163,311,602 (GRCm39) |
W204R |
possibly damaging |
Het |
| Gatb |
T |
A |
3: 85,511,716 (GRCm39) |
L157H |
probably damaging |
Het |
| Gm5111 |
G |
A |
6: 48,566,629 (GRCm39) |
|
probably null |
Het |
| Gm7298 |
A |
C |
6: 121,748,788 (GRCm39) |
I688L |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,422,275 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
A |
6: 115,857,632 (GRCm39) |
V126E |
probably damaging |
Het |
| Iqcf6 |
A |
T |
9: 106,504,698 (GRCm39) |
I121F |
possibly damaging |
Het |
| Kif21a |
A |
G |
15: 90,852,382 (GRCm39) |
V902A |
probably damaging |
Het |
| Klhl38 |
T |
C |
15: 58,178,435 (GRCm39) |
M512V |
probably benign |
Het |
| Klk1b1 |
A |
C |
7: 43,619,747 (GRCm39) |
N102T |
probably damaging |
Het |
| Lama4 |
T |
A |
10: 38,923,996 (GRCm39) |
L468Q |
probably damaging |
Het |
| Lilra5 |
A |
T |
7: 4,241,165 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,867,521 (GRCm39) |
D740V |
probably damaging |
Het |
| Mapk7 |
G |
T |
11: 61,384,632 (GRCm39) |
P25T |
probably benign |
Het |
| Mcm3ap |
C |
A |
10: 76,306,538 (GRCm39) |
A217D |
probably benign |
Het |
| Mucl3 |
A |
T |
17: 35,948,872 (GRCm39) |
F242L |
probably benign |
Het |
| Ncaph2 |
A |
G |
15: 89,254,605 (GRCm39) |
E406G |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,179,739 (GRCm39) |
I69V |
unknown |
Het |
| Nfatc3 |
A |
G |
8: 106,805,640 (GRCm39) |
S170G |
probably damaging |
Het |
| Nptn |
G |
A |
9: 58,526,264 (GRCm39) |
R137Q |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,430,570 (GRCm39) |
K1581N |
probably damaging |
Het |
| Or1q1 |
T |
C |
2: 36,887,691 (GRCm39) |
Y290H |
probably damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,562 (GRCm39) |
L203P |
probably damaging |
Het |
| Or51l4 |
G |
A |
7: 103,403,893 (GRCm39) |
Q300* |
probably null |
Het |
| Or52ab2 |
T |
A |
7: 102,970,449 (GRCm39) |
L277Q |
|
Het |
| Or5be3 |
G |
T |
2: 86,863,803 (GRCm39) |
T254K |
probably damaging |
Het |
| Or6c211 |
A |
T |
10: 129,505,628 (GRCm39) |
C253* |
probably null |
Het |
| Pdcl |
T |
C |
2: 37,242,348 (GRCm39) |
E134G |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,283,576 (GRCm39) |
Y738N |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,792,807 (GRCm39) |
D1498G |
probably damaging |
Het |
| Plxna1 |
T |
C |
6: 89,310,079 (GRCm39) |
N1029D |
probably benign |
Het |
| Ppp3cb |
C |
A |
14: 20,596,517 (GRCm39) |
|
probably benign |
Het |
| Prkn |
A |
G |
17: 11,456,448 (GRCm39) |
T91A |
probably benign |
Het |
| Rgs18 |
T |
A |
1: 144,629,698 (GRCm39) |
D187V |
probably damaging |
Het |
| Ripor2 |
C |
T |
13: 24,822,760 (GRCm39) |
|
probably benign |
Het |
| Rpl3l |
G |
A |
17: 24,954,455 (GRCm39) |
G172D |
probably damaging |
Het |
| Sdf4 |
A |
G |
4: 156,093,759 (GRCm39) |
T298A |
probably damaging |
Het |
| Skic3 |
C |
T |
13: 76,279,428 (GRCm39) |
S620L |
probably damaging |
Het |
| Slc17a3 |
T |
C |
13: 24,039,943 (GRCm39) |
V327A |
|
Het |
| Slc4a1ap |
T |
A |
5: 31,708,059 (GRCm39) |
F677L |
probably benign |
Het |
| Stoml2 |
A |
G |
4: 43,028,256 (GRCm39) |
V324A |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,989,620 (GRCm39) |
Q1833R |
probably damaging |
Het |
| Syt6 |
A |
G |
3: 103,534,371 (GRCm39) |
N481D |
possibly damaging |
Het |
| Tert |
T |
C |
13: 73,776,566 (GRCm39) |
M439T |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,338,686 (GRCm39) |
D1181E |
|
Het |
| Tln2 |
G |
A |
9: 67,237,832 (GRCm39) |
T33I |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,633,481 (GRCm39) |
S872P |
probably benign |
Het |
| Trim10 |
T |
C |
17: 37,181,048 (GRCm39) |
L93P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,640,427 (GRCm39) |
V13727E |
probably damaging |
Het |
| Vmn1r220 |
T |
C |
13: 23,368,271 (GRCm39) |
S142G |
probably benign |
Het |
| Vmn1r32 |
A |
G |
6: 66,530,651 (GRCm39) |
S42P |
probably damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfp683 |
C |
T |
4: 133,785,995 (GRCm39) |
T374I |
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 |
|
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 |
|
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'- CACGGGCTGATTGTGATTCC -3'
(R):5'- TGTGACGCACCCTGATTTC -3'
Sequencing Primer
(F):5'- TAGTGAAATCTGAGCAGCTCTG -3'
(R):5'- GACGCACCCTGATTTCTTTCTATTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation