Incidental Mutation 'R8990:Trpc7'
| ID |
684375 |
| 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 |
068822-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R8990 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
56920911-57043778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56952485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 562
(N562S)
|
| 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: N562S
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: N562S
| 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: N562S
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: N562S
| 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: N445S
| 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: N501S
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: N501S
| 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: N507S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: N507S
| 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 |
0.3231 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (57/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,104,494 (GRCm39) |
V731M |
|
Het |
| Ank2 |
A |
G |
3: 126,841,829 (GRCm39) |
|
probably null |
Het |
| Ano8 |
G |
C |
8: 71,929,201 (GRCm39) |
P1004R |
unknown |
Het |
| Aopep |
G |
A |
13: 63,304,428 (GRCm39) |
C480Y |
probably damaging |
Het |
| Asnsd1 |
C |
T |
1: 53,385,901 (GRCm39) |
G491D |
probably damaging |
Het |
| Atp6v1c2 |
A |
G |
12: 17,341,647 (GRCm39) |
V248A |
probably benign |
Het |
| BC035947 |
C |
T |
1: 78,475,486 (GRCm39) |
V349M |
probably damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,400,630 (GRCm39) |
D17G |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,975,370 (GRCm39) |
S681P |
possibly damaging |
Het |
| Cbs |
T |
C |
17: 31,834,523 (GRCm39) |
T489A |
probably benign |
Het |
| Ccdc66 |
T |
C |
14: 27,208,655 (GRCm39) |
K533R |
probably benign |
Het |
| Cenpx |
A |
G |
11: 120,602,591 (GRCm39) |
F53S |
unknown |
Het |
| Col4a4 |
A |
G |
1: 82,473,555 (GRCm39) |
S657P |
unknown |
Het |
| Csnk2a1 |
A |
G |
2: 152,096,177 (GRCm39) |
Y50C |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 62,427,168 (GRCm39) |
R748* |
probably null |
Het |
| Diaph1 |
A |
T |
18: 37,988,857 (GRCm39) |
L959H |
probably damaging |
Het |
| Dnaaf5 |
T |
G |
5: 139,155,951 (GRCm39) |
L544R |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,814,057 (GRCm39) |
D399G |
|
Het |
| Eif2b4 |
T |
C |
5: 31,347,971 (GRCm39) |
E247G |
probably benign |
Het |
| Fmnl2 |
T |
C |
2: 53,016,971 (GRCm39) |
I1050T |
unknown |
Het |
| Gm10272 |
T |
A |
10: 77,542,658 (GRCm39) |
S67T |
probably damaging |
Het |
| Gm32742 |
G |
A |
9: 51,058,802 (GRCm39) |
P1072S |
probably damaging |
Het |
| Hdac11 |
T |
A |
6: 91,145,799 (GRCm39) |
L151* |
probably null |
Het |
| Iars1 |
A |
G |
13: 49,841,752 (GRCm39) |
D80G |
possibly damaging |
Het |
| Kazn |
T |
C |
4: 141,868,947 (GRCm39) |
D413G |
probably damaging |
Het |
| Kcnc1 |
T |
A |
7: 46,077,733 (GRCm39) |
*512R |
probably null |
Het |
| Kcnf1 |
G |
A |
12: 17,225,336 (GRCm39) |
T295I |
probably benign |
Het |
| Klhl9 |
A |
G |
4: 88,640,205 (GRCm39) |
V12A |
probably benign |
Het |
| Klk6 |
T |
A |
7: 43,476,254 (GRCm39) |
H31Q |
probably benign |
Het |
| Ldhal6b |
A |
T |
17: 5,468,020 (GRCm39) |
S305T |
probably damaging |
Het |
| Lta4h |
C |
A |
10: 93,314,315 (GRCm39) |
D462E |
probably damaging |
Het |
| Ly75 |
T |
G |
2: 60,188,903 (GRCm39) |
R274S |
probably benign |
Het |
| Mideas |
T |
C |
12: 84,218,380 (GRCm39) |
T527A |
probably benign |
Het |
| Mn1 |
A |
G |
5: 111,566,381 (GRCm39) |
N117S |
possibly damaging |
Het |
| Mrgprd |
T |
C |
7: 144,875,915 (GRCm39) |
V262A |
probably benign |
Het |
| Mtres1 |
A |
G |
10: 43,401,233 (GRCm39) |
S239P |
unknown |
Het |
| Muc4 |
C |
A |
16: 32,574,009 (GRCm39) |
H696N |
probably benign |
Het |
| Nlrp3 |
A |
T |
11: 59,439,584 (GRCm39) |
Q387L |
probably damaging |
Het |
| Nme7 |
A |
G |
1: 164,155,902 (GRCm39) |
D34G |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 59,007,988 (GRCm39) |
L250* |
probably null |
Het |
| Or13p8 |
T |
C |
4: 118,584,224 (GRCm39) |
V260A |
probably benign |
Het |
| Palld |
C |
T |
8: 61,968,279 (GRCm39) |
E1096K |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,879,364 (GRCm39) |
D973G |
probably benign |
Het |
| Pced1a |
A |
G |
2: 130,264,471 (GRCm39) |
Y120H |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,824,273 (GRCm39) |
T627S |
unknown |
Het |
| Pkhd1 |
A |
G |
1: 20,417,529 (GRCm39) |
S2541P |
probably benign |
Het |
| Ptcd1 |
A |
G |
5: 145,102,047 (GRCm39) |
S91P |
probably damaging |
Het |
| R3hdm1 |
C |
T |
1: 128,106,833 (GRCm39) |
R229C |
probably damaging |
Het |
| Sectm1a |
G |
T |
11: 120,960,701 (GRCm39) |
T38K |
probably damaging |
Het |
| Serpinb2 |
A |
T |
1: 107,450,428 (GRCm39) |
I142F |
probably damaging |
Het |
| Slc25a39 |
A |
T |
11: 102,295,895 (GRCm39) |
V112E |
possibly damaging |
Het |
| Snap23 |
G |
T |
2: 120,415,516 (GRCm39) |
|
probably benign |
Het |
| Sp8 |
T |
A |
12: 118,813,122 (GRCm39) |
Y326N |
possibly damaging |
Het |
| Speer4c2 |
G |
A |
5: 15,858,598 (GRCm39) |
R141C |
probably benign |
Het |
| Spock1 |
A |
T |
13: 57,843,984 (GRCm39) |
|
probably null |
Het |
| Trpc2 |
T |
C |
7: 101,745,195 (GRCm39) |
Y804H |
probably benign |
Het |
| Trpm6 |
G |
A |
19: 18,792,799 (GRCm39) |
G741E |
probably damaging |
Het |
| Vmn1r160 |
T |
A |
7: 22,570,759 (GRCm39) |
H37Q |
probably damaging |
Het |
| Vmn1r174 |
G |
T |
7: 23,453,956 (GRCm39) |
M207I |
possibly damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
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 |
|
R8867:Trpc7
|
UTSW |
13 |
57,008,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CAATGAACTGCCTGAAGGAGGTC -3'
(R):5'- AAGATGCCTACCAGAGCAGG -3'
Sequencing Primer
(F):5'- TCCCCAGATGCCCAGAGATG -3'
(R):5'- TACCAGAGCAGGTTCCCC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation