Incidental Mutation 'R6599:Trpc7'
| ID |
526394 |
| 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 |
044723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R6599 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
56920911-57043778 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 56958193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022023]
[ENSMUST00000109871]
[ENSMUST00000151918]
[ENSMUST00000173817]
[ENSMUST00000174457]
|
| AlphaFold |
Q9WVC5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022023
|
| SMART Domains |
Protein: ENSMUSP00000022023
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 |
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 null
Transcript: ENSMUST00000109871
|
| SMART Domains |
Protein: ENSMUSP00000105497
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 |
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 |
probably null
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 null
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 null
Transcript: ENSMUST00000174457
|
| SMART Domains |
Protein: ENSMUSP00000133305
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 |
|
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: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
94% (32/34) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,882,250 (GRCm39) |
H150R |
probably benign |
Het |
| Acbd5 |
C |
T |
2: 22,959,092 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
G |
A |
6: 55,456,979 (GRCm39) |
V237M |
probably damaging |
Het |
| Akr1c6 |
T |
G |
13: 4,499,318 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
T |
A |
8: 129,893,462 (GRCm39) |
F96L |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,315,484 (GRCm39) |
H2983R |
possibly damaging |
Het |
| Dhx40 |
T |
A |
11: 86,695,175 (GRCm39) |
I112L |
possibly damaging |
Het |
| Dnmbp |
A |
T |
19: 43,845,025 (GRCm39) |
D1070E |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ep300 |
G |
C |
15: 81,470,914 (GRCm39) |
D29H |
unknown |
Het |
| Exoc3 |
T |
C |
13: 74,337,277 (GRCm39) |
|
probably null |
Het |
| Fcsk |
A |
T |
8: 111,619,915 (GRCm39) |
|
probably null |
Het |
| Gm6401 |
C |
A |
14: 41,788,821 (GRCm39) |
E83* |
probably null |
Het |
| Gm8267 |
G |
T |
14: 44,955,367 (GRCm39) |
T218K |
possibly damaging |
Het |
| H1f3 |
T |
C |
13: 23,739,451 (GRCm39) |
|
probably null |
Het |
| Hif3a |
T |
A |
7: 16,776,530 (GRCm39) |
D470V |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,917,505 (GRCm39) |
S1526G |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,299,749 (GRCm39) |
D3101G |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,342,544 (GRCm39) |
|
probably null |
Het |
| Mthfs |
G |
A |
9: 89,121,961 (GRCm39) |
G149D |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,514,669 (GRCm39) |
D116G |
probably benign |
Het |
| Nqo2 |
T |
C |
13: 34,163,539 (GRCm39) |
F22S |
probably damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,506 (GRCm39) |
M216L |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,049,239 (GRCm39) |
S276P |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,741,718 (GRCm39) |
S29P |
possibly damaging |
Het |
| Prokr2 |
C |
T |
2: 132,215,469 (GRCm39) |
V331M |
possibly damaging |
Het |
| Ptch1 |
T |
A |
13: 63,670,918 (GRCm39) |
I871F |
probably damaging |
Het |
| Rps6ka5 |
C |
A |
12: 100,564,168 (GRCm39) |
G227V |
probably damaging |
Het |
| Tcaim |
C |
T |
9: 122,663,844 (GRCm39) |
Q445* |
probably null |
Het |
| Trappc14 |
G |
T |
5: 138,261,720 (GRCm39) |
|
probably null |
Het |
| Ubxn7 |
A |
G |
16: 32,203,743 (GRCm39) |
E465G |
probably damaging |
Het |
| Unk |
G |
A |
11: 115,938,628 (GRCm39) |
R77Q |
probably damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,551 (GRCm39) |
N261I |
probably benign |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,886 (GRCm39) |
K134* |
probably null |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,944 (GRCm39) |
I669L |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,565,006 (GRCm39) |
I298V |
probably benign |
Het |
| Yipf2 |
T |
C |
9: 21,501,144 (GRCm39) |
K85E |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,083 (GRCm39) |
C209S |
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 |
|
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 |
|
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 |
|
| Posted On |
2018-06-25 |
Incidental Mutation