Incidental Mutation 'R7140:Trpc7'
| ID |
553423 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7140 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
56920911-57043778 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 56937487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 656
(Y656*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022023]
[ENSMUST00000109871]
[ENSMUST00000151918]
[ENSMUST00000173817]
[ENSMUST00000174457]
|
| AlphaFold |
Q9WVC5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022023
AA Change: Y656*
|
| SMART Domains |
Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: Y656*
| 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
AA Change: Y656*
|
| SMART Domains |
Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: Y656*
| 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
AA Change: Y539*
|
| SMART Domains |
Protein: ENSMUSP00000134662
Gene: ENSMUSG00000021541
AA Change: Y539*
| 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
AA Change: Y595*
|
| SMART Domains |
Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: Y595*
| 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
AA Change: Y601*
|
| SMART Domains |
Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: Y601*
| 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 |
0.9716 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (70/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
T |
C |
8: 27,610,929 (GRCm39) |
|
probably null |
Het |
| Ap2a2 |
G |
A |
7: 141,178,777 (GRCm39) |
A148T |
probably benign |
Het |
| Arhgef3 |
A |
T |
14: 27,123,664 (GRCm39) |
N442Y |
probably damaging |
Het |
| B3gat3 |
A |
G |
19: 8,903,216 (GRCm39) |
Y191C |
probably damaging |
Het |
| B430306N03Rik |
A |
T |
17: 48,629,483 (GRCm39) |
K203* |
probably null |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,283 (GRCm39) |
Y188F |
probably benign |
Het |
| Capn10 |
T |
C |
1: 92,872,993 (GRCm39) |
V573A |
possibly damaging |
Het |
| Cbx4 |
T |
C |
11: 118,972,754 (GRCm39) |
Y207C |
probably damaging |
Het |
| Ccdc43 |
G |
T |
11: 102,579,695 (GRCm39) |
|
probably null |
Het |
| Ccng2 |
C |
A |
5: 93,416,614 (GRCm39) |
P45Q |
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,441,263 (GRCm39) |
H68R |
probably benign |
Het |
| Cmtm4 |
A |
G |
8: 105,081,827 (GRCm39) |
Y187H |
probably damaging |
Het |
| Cst11 |
T |
C |
2: 148,610,649 (GRCm39) |
N134S |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,939,855 (GRCm39) |
F51I |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,342,973 (GRCm39) |
E1439G |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,686,158 (GRCm39) |
V131A |
probably benign |
Het |
| Dpysl2 |
A |
G |
14: 67,099,982 (GRCm39) |
S85P |
probably benign |
Het |
| Dync1i2 |
A |
G |
2: 71,078,283 (GRCm39) |
H324R |
probably benign |
Het |
| Elf1 |
A |
G |
14: 79,804,710 (GRCm39) |
D162G |
probably benign |
Het |
| Eri3 |
G |
A |
4: 117,506,604 (GRCm39) |
|
probably null |
Het |
| Fbxl21 |
T |
C |
13: 56,680,145 (GRCm39) |
S203P |
probably damaging |
Het |
| Foxi1 |
G |
A |
11: 34,155,758 (GRCm39) |
R291C |
probably damaging |
Het |
| Gprin3 |
C |
T |
6: 59,332,128 (GRCm39) |
A60T |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,491,118 (GRCm39) |
C212R |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,954,318 (GRCm39) |
L878P |
probably damaging |
Het |
| Hs6st3 |
A |
T |
14: 119,376,514 (GRCm39) |
N230Y |
probably damaging |
Het |
| Htr3b |
A |
G |
9: 48,848,441 (GRCm39) |
V268A |
possibly damaging |
Het |
| Ip6k3 |
T |
C |
17: 27,363,969 (GRCm39) |
T360A |
probably damaging |
Het |
| Izumo1 |
A |
G |
7: 45,275,536 (GRCm39) |
T282A |
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,086,623 (GRCm39) |
I1019N |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,880,037 (GRCm39) |
V1043A |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,871,358 (GRCm39) |
V420I |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,708 (GRCm39) |
Y605F |
possibly damaging |
Het |
| Nek7 |
A |
G |
1: 138,414,793 (GRCm39) |
I285T |
probably benign |
Het |
| Notch3 |
A |
G |
17: 32,375,351 (GRCm39) |
V357A |
possibly damaging |
Het |
| Nrxn1 |
G |
A |
17: 91,396,192 (GRCm39) |
|
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,795,297 (GRCm39) |
V281M |
possibly damaging |
Het |
| Or4a67 |
G |
A |
2: 88,598,308 (GRCm39) |
A117V |
probably damaging |
Het |
| Or5g9 |
T |
A |
2: 85,551,818 (GRCm39) |
L23Q |
probably damaging |
Het |
| Or6c74 |
T |
G |
10: 129,870,083 (GRCm39) |
M196R |
possibly damaging |
Het |
| Ostm1 |
C |
T |
10: 42,559,268 (GRCm39) |
A176V |
probably null |
Het |
| Pabpc6 |
C |
A |
17: 9,887,357 (GRCm39) |
S398I |
possibly damaging |
Het |
| Pcdhac2 |
C |
A |
18: 37,277,239 (GRCm39) |
P73H |
possibly damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,872,184 (GRCm39) |
D671G |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pigu |
A |
C |
2: 155,143,160 (GRCm39) |
L248R |
possibly damaging |
Het |
| Pinx1 |
C |
A |
14: 64,097,834 (GRCm39) |
|
probably null |
Het |
| Pon3 |
T |
C |
6: 5,221,664 (GRCm39) |
N322S |
possibly damaging |
Het |
| Pramel23 |
T |
G |
4: 143,425,002 (GRCm39) |
H147P |
probably benign |
Het |
| Rnft1 |
A |
G |
11: 86,382,586 (GRCm39) |
I270V |
probably benign |
Het |
| Scgb2b11 |
A |
G |
7: 31,910,006 (GRCm39) |
F27L |
probably damaging |
Het |
| Slc5a4b |
C |
T |
10: 75,910,943 (GRCm39) |
V298I |
probably damaging |
Het |
| Slco1a6 |
T |
A |
6: 142,048,745 (GRCm39) |
H345L |
probably benign |
Het |
| Sox1 |
C |
T |
8: 12,447,405 (GRCm39) |
P349S |
possibly damaging |
Het |
| Spata31 |
A |
G |
13: 65,068,913 (GRCm39) |
N354D |
probably benign |
Het |
| Speg |
T |
C |
1: 75,383,414 (GRCm39) |
|
probably null |
Het |
| Stpg1 |
T |
C |
4: 135,261,033 (GRCm39) |
I281T |
probably benign |
Het |
| Sult3a1 |
T |
C |
10: 33,753,283 (GRCm39) |
L193P |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,745,271 (GRCm39) |
C1097S |
probably damaging |
Het |
| Tfap2a |
A |
G |
13: 40,883,523 (GRCm39) |
S7P |
probably benign |
Het |
| Tlr1 |
T |
C |
5: 65,083,021 (GRCm39) |
I519V |
probably benign |
Het |
| Tmem238 |
A |
G |
7: 4,792,072 (GRCm39) |
V157A |
possibly damaging |
Het |
| Tmem45b |
A |
T |
9: 31,345,780 (GRCm39) |
|
probably null |
Het |
| Togaram2 |
A |
T |
17: 72,021,761 (GRCm39) |
H742L |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,072,785 (GRCm39) |
Y920N |
probably damaging |
Het |
| Xab2 |
G |
A |
8: 3,668,117 (GRCm39) |
R154C |
possibly damaging |
Het |
| Zfp759 |
A |
T |
13: 67,288,177 (GRCm39) |
H576L |
possibly damaging |
Het |
| Zfp958 |
G |
T |
8: 4,678,481 (GRCm39) |
A169S |
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 |
|
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 |
|
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'- CTCCAGGGAGAATGTCTGTTAC -3'
(R):5'- ATGAGAGGGCAGCTTTCATG -3'
Sequencing Primer
(F):5'- TCTTAGCATCACACGTGAGG -3'
(R):5'- AGGGCAGCTTTCATGTTAAAAGTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation