Incidental Mutation 'R5834:Trpc7'
| ID |
449490 |
| 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 |
044055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R5834 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
56920911-57043778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56923971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 738
(L738P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022023]
[ENSMUST00000109871]
[ENSMUST00000151918]
[ENSMUST00000173817]
[ENSMUST00000174457]
|
| AlphaFold |
Q9WVC5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022023
AA Change: L793P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: L793P
| 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: L792P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: L792P
| 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 |
unknown
Transcript: ENSMUST00000173513
AA Change: L676P
|
| SMART Domains |
Protein: ENSMUSP00000134662
Gene: ENSMUSG00000021541
AA Change: L676P
| 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: L732P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: L732P
| 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: L738P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: L738P
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,227,974 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
A |
C |
15: 94,251,465 (GRCm39) |
S441A |
probably damaging |
Het |
| Aen |
T |
A |
7: 78,557,049 (GRCm39) |
M299K |
probably damaging |
Het |
| Akap3 |
T |
C |
6: 126,842,796 (GRCm39) |
S472P |
probably benign |
Het |
| Ank3 |
T |
G |
10: 69,658,087 (GRCm39) |
V158G |
probably damaging |
Het |
| Arfgap1 |
A |
G |
2: 180,622,955 (GRCm39) |
D324G |
probably benign |
Het |
| Aste1 |
A |
T |
9: 105,280,614 (GRCm39) |
R448S |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,308,366 (GRCm39) |
L55Q |
probably benign |
Het |
| C1qtnf9 |
G |
A |
14: 61,016,899 (GRCm39) |
G143D |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,208,126 (GRCm39) |
V1122A |
probably benign |
Het |
| Cbl |
T |
C |
9: 44,145,076 (GRCm39) |
H37R |
probably damaging |
Het |
| Cfap61 |
A |
C |
2: 145,971,069 (GRCm39) |
D893A |
probably benign |
Het |
| Chd2 |
T |
A |
7: 73,128,463 (GRCm39) |
I841F |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,723,792 (GRCm39) |
T622A |
probably damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,896,391 (GRCm39) |
Y1028H |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,434 (GRCm39) |
T865A |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,030,511 (GRCm39) |
I448V |
probably benign |
Het |
| Cyth1 |
T |
A |
11: 118,083,289 (GRCm39) |
|
probably null |
Het |
| Dcaf13 |
C |
T |
15: 39,007,037 (GRCm39) |
R324* |
probably null |
Het |
| Dhx37 |
C |
A |
5: 125,502,794 (GRCm39) |
R42L |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,365,662 (GRCm39) |
V450E |
probably damaging |
Het |
| Ednrb |
A |
G |
14: 104,058,313 (GRCm39) |
L330P |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,785,170 (GRCm39) |
H778Q |
probably damaging |
Het |
| Evx1 |
T |
A |
6: 52,292,975 (GRCm39) |
I227N |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,388,766 (GRCm39) |
V326E |
probably benign |
Het |
| Gata2 |
T |
C |
6: 88,177,729 (GRCm39) |
V253A |
probably benign |
Het |
| Gbp2 |
A |
G |
3: 142,339,138 (GRCm39) |
N397D |
probably damaging |
Het |
| Gm14401 |
C |
A |
2: 176,778,696 (GRCm39) |
H261N |
probably benign |
Het |
| Hacd4 |
A |
T |
4: 88,316,389 (GRCm39) |
H243Q |
probably benign |
Het |
| Hsd3b1 |
C |
A |
3: 98,760,255 (GRCm39) |
K245N |
possibly damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Ift27 |
A |
T |
15: 78,049,443 (GRCm39) |
C86S |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Irs3 |
T |
A |
5: 137,642,821 (GRCm39) |
S206C |
probably damaging |
Het |
| Lefty2 |
C |
T |
1: 180,720,716 (GRCm39) |
|
probably benign |
Het |
| Mark3 |
A |
G |
12: 111,590,921 (GRCm39) |
I162V |
probably damaging |
Het |
| Matcap1 |
G |
A |
8: 106,008,755 (GRCm39) |
Q421* |
probably null |
Het |
| Mefv |
A |
C |
16: 3,533,910 (GRCm39) |
D120E |
probably damaging |
Het |
| Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
| Mre11a |
A |
G |
9: 14,710,953 (GRCm39) |
I45V |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,620,993 (GRCm39) |
N1797S |
possibly damaging |
Het |
| Nav1 |
A |
C |
1: 135,460,144 (GRCm39) |
M393R |
probably benign |
Het |
| Nod2 |
T |
C |
8: 89,391,267 (GRCm39) |
S510P |
possibly damaging |
Het |
| Nos2 |
C |
T |
11: 78,819,405 (GRCm39) |
T39I |
probably benign |
Het |
| Or2h1b |
A |
T |
17: 37,462,690 (GRCm39) |
Y58N |
probably damaging |
Het |
| Or5p54 |
T |
A |
7: 107,554,113 (GRCm39) |
H88Q |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,878,970 (GRCm39) |
S842G |
possibly damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,145,676 (GRCm39) |
V589A |
probably damaging |
Het |
| Plaa |
A |
C |
4: 94,471,706 (GRCm39) |
V10G |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,053,659 (GRCm39) |
|
probably benign |
Het |
| Ptprt |
T |
C |
2: 161,402,189 (GRCm39) |
Y994C |
probably damaging |
Het |
| Ripply2 |
T |
A |
9: 86,897,943 (GRCm39) |
W37R |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,395,839 (GRCm39) |
D1227G |
probably damaging |
Het |
| Scoc |
C |
T |
8: 84,164,260 (GRCm39) |
D10N |
possibly damaging |
Het |
| Sdk2 |
A |
T |
11: 113,745,099 (GRCm39) |
I732N |
probably damaging |
Het |
| Six2 |
T |
C |
17: 85,995,092 (GRCm39) |
K97E |
probably damaging |
Het |
| Slit2 |
A |
C |
5: 48,416,989 (GRCm39) |
N1014H |
probably damaging |
Het |
| Smc1b |
A |
C |
15: 84,973,866 (GRCm39) |
L930R |
probably damaging |
Het |
| Spag16 |
T |
A |
1: 69,962,873 (GRCm39) |
M340K |
probably benign |
Het |
| Spata31 |
C |
T |
13: 65,070,480 (GRCm39) |
S876L |
probably benign |
Het |
| Spen |
A |
G |
4: 141,199,154 (GRCm39) |
Y3135H |
possibly damaging |
Het |
| Spta1 |
A |
T |
1: 174,012,363 (GRCm39) |
|
probably null |
Het |
| Stk3 |
G |
A |
15: 34,959,164 (GRCm39) |
T336I |
probably damaging |
Het |
| Tas2r118 |
T |
A |
6: 23,969,876 (GRCm39) |
T62S |
probably benign |
Het |
| Tmprss11d |
A |
G |
5: 86,454,169 (GRCm39) |
M212T |
probably damaging |
Het |
| Ttll8 |
A |
G |
15: 88,801,449 (GRCm39) |
V413A |
possibly damaging |
Het |
| Usb1 |
G |
A |
8: 96,060,161 (GRCm39) |
|
probably benign |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,168 (GRCm39) |
E82G |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,529,599 (GRCm39) |
T168A |
possibly damaging |
Het |
| Vmn2r60 |
C |
A |
7: 41,765,932 (GRCm39) |
P13H |
probably benign |
Het |
| Wdr26 |
A |
G |
1: 181,030,712 (GRCm39) |
L194P |
probably damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,310,787 (GRCm39) |
Q636* |
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,313,311 (GRCm39) |
Y25H |
probably benign |
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 |
|
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'- CACTAAAGAGCCAGGTATTCTCC -3'
(R):5'- GGAAGTGTCCTGTTCTCACC -3'
Sequencing Primer
(F):5'- AGAGCCAGGTATTCTCCATAAAG -3'
(R):5'- GAGGCTATGCAGAGCTCTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation