Incidental Mutation 'R0611:Trpc7'
ID |
54751 |
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 |
038800-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R0611 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
56920911-57043778 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57035636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 99
(K99M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022023]
[ENSMUST00000109871]
[ENSMUST00000151918]
[ENSMUST00000173817]
[ENSMUST00000174457]
|
AlphaFold |
Q9WVC5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022023
AA Change: K99M
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000022023 Gene: ENSMUSG00000021541 AA Change: K99M
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: K99M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105497 Gene: ENSMUSG00000021541 AA Change: K99M
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 |
possibly damaging
Transcript: ENSMUST00000151918
AA Change: K99M
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000119809 Gene: ENSMUSG00000021541 AA Change: K99M
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: K98M
|
SMART Domains |
Protein: ENSMUSP00000134481 Gene: ENSMUSG00000021541 AA Change: K98M
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: K98M
|
SMART Domains |
Protein: ENSMUSP00000134285 Gene: ENSMUSG00000021541 AA Change: K98M
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: K98M
|
SMART Domains |
Protein: ENSMUSP00000134662 Gene: ENSMUSG00000021541 AA Change: K98M
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: K99M
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133411 Gene: ENSMUSG00000021541 AA Change: K99M
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: K99M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133305 Gene: ENSMUSG00000021541 AA Change: K99M
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: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 94.9%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
A |
7: 119,851,479 (GRCm39) |
M819K |
possibly damaging |
Het |
Adamtsl3 |
T |
G |
7: 82,178,120 (GRCm39) |
C528G |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,004,870 (GRCm39) |
K148E |
probably benign |
Het |
Akr1b1 |
A |
T |
6: 34,286,577 (GRCm39) |
D225E |
probably benign |
Het |
Alms1 |
C |
A |
6: 85,655,653 (GRCm39) |
Q2931K |
possibly damaging |
Het |
Ano3 |
T |
C |
2: 110,715,346 (GRCm39) |
K31E |
possibly damaging |
Het |
Cdc37 |
A |
G |
9: 21,053,537 (GRCm39) |
I242T |
probably damaging |
Het |
Celsr1 |
T |
A |
15: 85,816,524 (GRCm39) |
K1806N |
possibly damaging |
Het |
Clpb |
T |
A |
7: 101,436,956 (GRCm39) |
I707N |
possibly damaging |
Het |
Cntnap2 |
A |
T |
6: 47,072,483 (GRCm39) |
Y1017F |
possibly damaging |
Het |
Creb3l2 |
A |
T |
6: 37,311,416 (GRCm39) |
S458T |
probably benign |
Het |
Ctnnd2 |
C |
A |
15: 31,009,230 (GRCm39) |
T1109K |
possibly damaging |
Het |
Dcaf10 |
T |
A |
4: 45,373,011 (GRCm39) |
L425Q |
probably damaging |
Het |
Dlec1 |
A |
G |
9: 118,941,167 (GRCm39) |
E239G |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,390,020 (GRCm39) |
K742E |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,371,717 (GRCm39) |
R889S |
probably damaging |
Het |
Dync1h1 |
T |
A |
12: 110,599,222 (GRCm39) |
M1859K |
probably damaging |
Het |
Efcab7 |
T |
A |
4: 99,758,886 (GRCm39) |
N361K |
probably damaging |
Het |
Eps8l2 |
T |
C |
7: 140,935,646 (GRCm39) |
V139A |
probably damaging |
Het |
Fads3 |
T |
G |
19: 10,019,200 (GRCm39) |
H35Q |
probably damaging |
Het |
Fam163b |
C |
A |
2: 27,003,583 (GRCm39) |
V24F |
probably damaging |
Het |
Gm14496 |
A |
T |
2: 181,636,904 (GRCm39) |
T121S |
probably benign |
Het |
Gm4799 |
C |
T |
10: 82,790,563 (GRCm39) |
|
noncoding transcript |
Het |
Gm7168 |
A |
T |
17: 14,169,797 (GRCm39) |
D388V |
probably benign |
Het |
Gmeb1 |
A |
T |
4: 131,953,386 (GRCm39) |
L460* |
probably null |
Het |
Gpc6 |
T |
G |
14: 118,212,430 (GRCm39) |
F534V |
probably null |
Het |
Hectd3 |
A |
G |
4: 116,853,241 (GRCm39) |
D156G |
possibly damaging |
Het |
Itga6 |
T |
C |
2: 71,650,404 (GRCm39) |
I150T |
possibly damaging |
Het |
Kansl1 |
A |
G |
11: 104,229,012 (GRCm39) |
M863T |
probably benign |
Het |
Kcnb2 |
A |
T |
1: 15,780,664 (GRCm39) |
Y512F |
probably benign |
Het |
Klhdc2 |
A |
T |
12: 69,347,053 (GRCm39) |
M73L |
probably benign |
Het |
Ktn1 |
A |
G |
14: 47,932,073 (GRCm39) |
T667A |
probably benign |
Het |
Lgsn |
A |
C |
1: 31,242,736 (GRCm39) |
I273L |
probably benign |
Het |
Lilra5 |
A |
G |
7: 4,245,232 (GRCm39) |
D292G |
probably benign |
Het |
Mrps27 |
C |
T |
13: 99,541,582 (GRCm39) |
R229C |
probably damaging |
Het |
Muc5b |
T |
G |
7: 141,416,173 (GRCm39) |
S3040A |
probably benign |
Het |
Nat14 |
T |
C |
7: 4,926,275 (GRCm39) |
S7P |
probably damaging |
Het |
Nfia |
A |
G |
4: 97,671,694 (GRCm39) |
I135V |
possibly damaging |
Het |
Nkd1 |
G |
A |
8: 89,248,944 (GRCm39) |
A30T |
probably damaging |
Het |
Nup205 |
A |
G |
6: 35,202,903 (GRCm39) |
D1370G |
probably null |
Het |
Or1j15 |
C |
G |
2: 36,459,568 (GRCm39) |
|
probably null |
Het |
Or4k15c |
G |
A |
14: 50,321,310 (GRCm39) |
T276I |
probably damaging |
Het |
Or51k2 |
T |
C |
7: 103,596,400 (GRCm39) |
L209P |
probably damaging |
Het |
Or5p79 |
T |
A |
7: 108,221,494 (GRCm39) |
N158K |
possibly damaging |
Het |
Or8s10 |
T |
C |
15: 98,336,168 (GRCm39) |
S273P |
possibly damaging |
Het |
Orc1 |
C |
T |
4: 108,459,229 (GRCm39) |
A466V |
probably benign |
Het |
Otud7a |
T |
A |
7: 63,385,638 (GRCm39) |
D367E |
possibly damaging |
Het |
Pcdhb4 |
A |
G |
18: 37,441,263 (GRCm39) |
Y191C |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,762,828 (GRCm39) |
V3767A |
unknown |
Het |
Pclo |
T |
C |
5: 14,728,789 (GRCm39) |
|
probably benign |
Het |
Prmt1 |
A |
T |
7: 44,628,225 (GRCm39) |
|
probably null |
Het |
Ralgapa1 |
A |
G |
12: 55,842,483 (GRCm39) |
F62S |
probably damaging |
Het |
Rangrf |
T |
C |
11: 68,863,518 (GRCm39) |
S163G |
probably benign |
Het |
Rgs12 |
C |
A |
5: 35,176,804 (GRCm39) |
A65E |
probably damaging |
Het |
Rrbp1 |
T |
C |
2: 143,830,436 (GRCm39) |
N577S |
probably damaging |
Het |
Septin11 |
A |
G |
5: 93,315,393 (GRCm39) |
H374R |
probably damaging |
Het |
Serpina5 |
T |
G |
12: 104,070,046 (GRCm39) |
N314K |
probably benign |
Het |
Sgce |
T |
C |
6: 4,689,621 (GRCm39) |
D395G |
probably damaging |
Het |
Slc26a9 |
A |
T |
1: 131,690,499 (GRCm39) |
N501I |
probably damaging |
Het |
Slc9c1 |
A |
G |
16: 45,401,965 (GRCm39) |
D784G |
possibly damaging |
Het |
Snapc2 |
A |
G |
8: 4,305,676 (GRCm39) |
D207G |
probably benign |
Het |
Stard9 |
G |
T |
2: 120,529,738 (GRCm39) |
M1998I |
probably benign |
Het |
Stk38 |
A |
C |
17: 29,194,907 (GRCm39) |
F280V |
possibly damaging |
Het |
Tas2r126 |
A |
G |
6: 42,412,025 (GRCm39) |
K186R |
probably damaging |
Het |
Tdp1 |
A |
C |
12: 99,875,970 (GRCm39) |
D307A |
probably benign |
Het |
Tead2 |
A |
G |
7: 44,866,674 (GRCm39) |
D11G |
probably damaging |
Het |
Tmco4 |
C |
A |
4: 138,747,383 (GRCm39) |
L211I |
probably damaging |
Het |
Tmem183a |
A |
G |
1: 134,280,115 (GRCm39) |
F255S |
probably damaging |
Het |
Tmem87a |
C |
T |
2: 120,205,929 (GRCm39) |
G349S |
possibly damaging |
Het |
Tpte |
G |
A |
8: 22,826,549 (GRCm39) |
E377K |
possibly damaging |
Het |
Trim32 |
T |
C |
4: 65,531,893 (GRCm39) |
F150S |
possibly damaging |
Het |
Ttc22 |
A |
G |
4: 106,491,381 (GRCm39) |
K195E |
probably damaging |
Het |
Txn2 |
G |
A |
15: 77,811,917 (GRCm39) |
P7S |
probably damaging |
Het |
Ubxn2a |
G |
A |
12: 4,930,700 (GRCm39) |
T220I |
probably damaging |
Het |
Ufd1 |
A |
G |
16: 18,633,626 (GRCm39) |
N17S |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,102,509 (GRCm39) |
S958P |
probably damaging |
Het |
Vmn1r202 |
T |
A |
13: 22,685,824 (GRCm39) |
M198L |
probably damaging |
Het |
Vmn2r84 |
G |
A |
10: 130,221,991 (GRCm39) |
A743V |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,213,007 (GRCm39) |
F891S |
probably damaging |
Het |
Zfp708 |
T |
C |
13: 67,218,375 (GRCm39) |
T495A |
probably benign |
Het |
Zfp81 |
A |
G |
17: 33,553,593 (GRCm39) |
I407T |
probably benign |
Het |
Zswim5 |
T |
C |
4: 116,843,874 (GRCm39) |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCTTGAGCAGCAAGATATGCAC -3'
(R):5'- GGCTGAGTATGGCAACATACCAGTG -3'
Sequencing Primer
(F):5'- AATCTCATACTCCTGGCAGTGG -3'
(R):5'- TATGGCAACATACCAGTGGTCAG -3'
|
Posted On |
2013-07-11 |