Incidental Mutation 'IGL02323:Trpc7'
| ID |
288346 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trpc7
|
| Ensembl Gene |
ENSMUSG00000021541 |
| Gene Name |
transient receptor potential cation channel, subfamily C, member 7 |
| Synonyms |
TRP7, Trrp8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
IGL02323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
56920911-57043778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56931564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 595
(V595L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022023]
[ENSMUST00000109871]
[ENSMUST00000151918]
[ENSMUST00000173817]
[ENSMUST00000174457]
|
| AlphaFold |
Q9WVC5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022023
AA Change: V712L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: V712L
| 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: V712L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: V712L
| 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 |
possibly damaging
Transcript: ENSMUST00000173513
AA Change: V595L
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134662
Gene: ENSMUSG00000021541
AA Change: V595L
| 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
AA Change: V651L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: V651L
| 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: V657L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: V657L
| 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 |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
A |
G |
5: 137,289,326 (GRCm39) |
E344G |
probably damaging |
Het |
| Actrt2 |
T |
C |
4: 154,751,255 (GRCm39) |
T294A |
probably benign |
Het |
| Afg1l |
C |
A |
10: 42,330,506 (GRCm39) |
E54* |
probably null |
Het |
| Ahi1 |
T |
C |
10: 20,847,933 (GRCm39) |
I447T |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,187,212 (GRCm39) |
I1542T |
probably benign |
Het |
| Ankrd34c |
A |
C |
9: 89,612,033 (GRCm39) |
S103A |
possibly damaging |
Het |
| Apc |
C |
T |
18: 34,448,863 (GRCm39) |
Q1886* |
probably null |
Het |
| Bcas3 |
A |
G |
11: 85,386,671 (GRCm39) |
T148A |
probably damaging |
Het |
| Bud13 |
A |
G |
9: 46,194,350 (GRCm39) |
T8A |
probably benign |
Het |
| Casr |
A |
T |
16: 36,330,072 (GRCm39) |
Y421N |
probably damaging |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,597,600 (GRCm39) |
Y49C |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,697,794 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,619,082 (GRCm39) |
T686A |
probably benign |
Het |
| Cntln |
T |
A |
4: 84,968,026 (GRCm39) |
H748Q |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,170,056 (GRCm39) |
D683E |
possibly damaging |
Het |
| Dnmt3l |
A |
G |
10: 77,899,152 (GRCm39) |
K117R |
probably damaging |
Het |
| Eif2a |
T |
C |
3: 58,456,024 (GRCm39) |
M341T |
possibly damaging |
Het |
| Epg5 |
T |
A |
18: 78,056,047 (GRCm39) |
Y1740* |
probably null |
Het |
| Fam149b |
C |
T |
14: 20,413,369 (GRCm39) |
T157I |
possibly damaging |
Het |
| Fam89b |
A |
G |
19: 5,778,899 (GRCm39) |
|
probably null |
Het |
| Fbxo3 |
T |
A |
2: 103,878,296 (GRCm39) |
N232K |
probably benign |
Het |
| Gnl3 |
A |
C |
14: 30,739,359 (GRCm39) |
H16Q |
probably damaging |
Het |
| Gpld1 |
T |
G |
13: 25,166,757 (GRCm39) |
V669G |
probably damaging |
Het |
| Grik3 |
A |
G |
4: 125,579,783 (GRCm39) |
|
probably benign |
Het |
| Gzmg |
A |
C |
14: 56,394,729 (GRCm39) |
Y180D |
probably benign |
Het |
| H2-M9 |
A |
T |
17: 36,951,633 (GRCm39) |
Y281N |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,442,001 (GRCm39) |
S637T |
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
| Mrs2 |
T |
A |
13: 25,188,940 (GRCm39) |
I125F |
probably damaging |
Het |
| Nfam1 |
T |
A |
15: 82,907,152 (GRCm39) |
N15I |
probably benign |
Het |
| Nol8 |
T |
A |
13: 49,808,721 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,899,348 (GRCm39) |
V6483A |
possibly damaging |
Het |
| Or2a56 |
A |
T |
6: 42,932,917 (GRCm39) |
I162F |
probably benign |
Het |
| Osbpl3 |
A |
G |
6: 50,323,306 (GRCm39) |
|
probably null |
Het |
| Plaat3 |
G |
A |
19: 7,552,357 (GRCm39) |
W24* |
probably null |
Het |
| Ppfibp2 |
A |
T |
7: 107,337,836 (GRCm39) |
Q652H |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,183,772 (GRCm39) |
V277A |
probably damaging |
Het |
| Robo3 |
G |
A |
9: 37,333,497 (GRCm39) |
A716V |
probably benign |
Het |
| Scart1 |
G |
T |
7: 139,808,572 (GRCm39) |
A828S |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,584,785 (GRCm39) |
L375* |
probably null |
Het |
| Slc29a4 |
A |
G |
5: 142,703,407 (GRCm39) |
E227G |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,199,413 (GRCm39) |
D656G |
possibly damaging |
Het |
| Sox1 |
A |
G |
8: 12,446,692 (GRCm39) |
H111R |
possibly damaging |
Het |
| Spmip9 |
A |
G |
6: 70,890,679 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
G |
A |
4: 58,070,236 (GRCm39) |
Q2517* |
probably null |
Het |
| Syndig1 |
G |
T |
2: 149,741,707 (GRCm39) |
V98L |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,911,183 (GRCm39) |
E154G |
probably benign |
Het |
| Tkt |
G |
A |
14: 30,292,992 (GRCm39) |
G490S |
possibly damaging |
Het |
| Tmem200a |
T |
C |
10: 25,869,328 (GRCm39) |
N314D |
probably benign |
Het |
| Tnfaip8l1 |
A |
T |
17: 56,479,009 (GRCm39) |
T100S |
probably damaging |
Het |
| Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
| Trim12c |
C |
T |
7: 103,997,473 (GRCm39) |
A28T |
probably benign |
Het |
| Ttc39c |
A |
G |
18: 12,869,800 (GRCm39) |
R575G |
probably null |
Het |
| Ttn |
T |
G |
2: 76,681,919 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,553,609 (GRCm39) |
V31003M |
probably damaging |
Het |
| Ugt2b37 |
A |
T |
5: 87,398,423 (GRCm39) |
|
probably benign |
Het |
| Uqcrb |
A |
T |
13: 67,050,874 (GRCm39) |
|
probably benign |
Het |
| Usp33 |
T |
A |
3: 152,076,024 (GRCm39) |
W415R |
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,816,399 (GRCm39) |
D41E |
probably damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,113 (GRCm39) |
I204F |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation