Incidental Mutation 'R8143:Trpc7'
| ID |
632659 |
| 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 |
067571-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R8143 (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 56930362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 769
(T769A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022023]
[ENSMUST00000109871]
[ENSMUST00000151918]
[ENSMUST00000173817]
[ENSMUST00000174457]
|
| AlphaFold |
Q9WVC5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022023
AA Change: T769A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: T769A
| 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: T768A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: T768A
| 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: T652A
| 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: T708A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: T708A
| 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: T714A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: T714A
| 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: 99.7%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 85.9%
|
| Validation Efficiency |
100% (65/65) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
C |
A |
2: 35,265,884 (GRCm39) |
C262F |
probably damaging |
Het |
| Acss1 |
T |
C |
2: 150,509,801 (GRCm39) |
|
probably null |
Het |
| Adamtsl1 |
T |
C |
4: 86,260,492 (GRCm39) |
V909A |
possibly damaging |
Het |
| Adprh |
G |
A |
16: 38,270,694 (GRCm39) |
T37M |
probably benign |
Het |
| Ak9 |
T |
A |
10: 41,213,588 (GRCm39) |
Y264* |
probably null |
Het |
| Aox3 |
G |
T |
1: 58,198,074 (GRCm39) |
A629S |
probably benign |
Het |
| Apcs |
G |
A |
1: 172,721,900 (GRCm39) |
P149S |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,377,294 (GRCm39) |
|
probably null |
Het |
| Asb13 |
G |
A |
13: 3,692,065 (GRCm39) |
G15D |
probably damaging |
Het |
| Bltp1 |
T |
G |
3: 37,000,657 (GRCm39) |
|
probably null |
Het |
| Cacnb1 |
T |
G |
11: 97,894,146 (GRCm39) |
T459P |
probably benign |
Het |
| Chrnb2 |
T |
C |
3: 89,654,630 (GRCm39) |
T718A |
unknown |
Het |
| Cttn |
T |
A |
7: 144,014,999 (GRCm39) |
K70* |
probably null |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Cyp39a1 |
T |
C |
17: 44,036,517 (GRCm39) |
V349A |
probably benign |
Het |
| Ebf2 |
C |
A |
14: 67,649,386 (GRCm39) |
Y430* |
probably null |
Het |
| Eef2 |
T |
C |
10: 81,017,182 (GRCm39) |
Y730H |
probably damaging |
Het |
| Eif2ak2 |
G |
A |
17: 79,165,961 (GRCm39) |
T412I |
probably benign |
Het |
| Flnc |
G |
C |
6: 29,441,484 (GRCm39) |
R422P |
probably benign |
Het |
| Fryl |
G |
A |
5: 73,207,682 (GRCm39) |
A2496V |
probably benign |
Het |
| Galnt6 |
A |
G |
15: 100,614,088 (GRCm39) |
L71P |
probably damaging |
Het |
| Gm7579 |
C |
T |
7: 141,766,163 (GRCm39) |
Q190* |
probably null |
Het |
| H2-T3 |
T |
A |
17: 36,498,384 (GRCm39) |
R220S |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,734,957 (GRCm39) |
V185A |
probably benign |
Het |
| Ifi208 |
T |
A |
1: 173,510,242 (GRCm39) |
D132E |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,884,255 (GRCm39) |
V981I |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,683,003 (GRCm39) |
T310A |
unknown |
Het |
| Kat5 |
A |
G |
19: 5,657,577 (GRCm39) |
|
probably null |
Het |
| Kif22 |
A |
T |
7: 126,632,397 (GRCm39) |
D304E |
probably damaging |
Het |
| Mapre3 |
A |
T |
5: 31,020,719 (GRCm39) |
N147Y |
possibly damaging |
Het |
| Morc2a |
T |
C |
11: 3,628,537 (GRCm39) |
V330A |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,734,525 (GRCm39) |
V709M |
possibly damaging |
Het |
| Myo3a |
T |
G |
2: 22,287,476 (GRCm39) |
|
probably null |
Het |
| N4bp2l2 |
A |
T |
5: 150,585,670 (GRCm39) |
D103E |
probably benign |
Het |
| Nckap1 |
T |
C |
2: 80,336,530 (GRCm39) |
K1062R |
possibly damaging |
Het |
| Nol9 |
T |
C |
4: 152,125,559 (GRCm39) |
V170A |
possibly damaging |
Het |
| Numa1 |
A |
G |
7: 101,648,891 (GRCm39) |
Q874R |
possibly damaging |
Het |
| Olig3 |
T |
G |
10: 19,232,732 (GRCm39) |
V119G |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,587 (GRCm39) |
V31A |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,922,906 (GRCm39) |
S485P |
probably benign |
Het |
| Otogl |
A |
G |
10: 107,642,527 (GRCm39) |
F1301S |
probably damaging |
Het |
| Pank3 |
A |
G |
11: 35,667,036 (GRCm39) |
Y51C |
probably damaging |
Het |
| Pex5l |
T |
C |
3: 33,136,658 (GRCm39) |
|
probably benign |
Het |
| Pgm1 |
G |
A |
4: 99,824,415 (GRCm39) |
|
probably null |
Het |
| Psmd9 |
T |
G |
5: 123,366,479 (GRCm39) |
I37S |
probably damaging |
Het |
| Qtrt2 |
A |
G |
16: 43,692,117 (GRCm39) |
S135P |
probably damaging |
Het |
| Rexo5 |
T |
A |
7: 119,433,484 (GRCm39) |
|
probably null |
Het |
| Rsrp1 |
T |
A |
4: 134,654,319 (GRCm39) |
D286E |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,169,269 (GRCm39) |
C116Y |
probably damaging |
Het |
| Serpina3b |
A |
T |
12: 104,096,793 (GRCm39) |
T25S |
probably benign |
Het |
| Sh3pxd2a |
G |
A |
19: 47,257,138 (GRCm39) |
P555S |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,568,230 (GRCm39) |
L89Q |
probably damaging |
Het |
| Tgm6 |
T |
A |
2: 129,983,763 (GRCm39) |
N307K |
probably damaging |
Het |
| Tmem86b |
G |
T |
7: 4,631,484 (GRCm39) |
D189E |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,017,287 (GRCm39) |
R392C |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,772,707 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,693,677 (GRCm39) |
E397G |
possibly damaging |
Het |
| Vcl |
A |
T |
14: 21,037,112 (GRCm39) |
M237L |
possibly damaging |
Het |
| Vmn1r36 |
G |
A |
6: 66,693,036 (GRCm39) |
Q280* |
probably null |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,312 (GRCm39) |
D555V |
probably damaging |
Het |
| Wnk4 |
A |
G |
11: 101,153,625 (GRCm39) |
N229S |
probably damaging |
Het |
| Zfp784 |
A |
C |
7: 5,038,910 (GRCm39) |
V216G |
possibly 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 |
|
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'- ACACTGCCTCCTCGGTAAATG -3'
(R):5'- GGCCCTGTATGTAGATATTCTCAG -3'
Sequencing Primer
(F):5'- ACTCGTCAACGTGACTG -3'
(R):5'- AGATATTCTCAGGTCCTGCATGCATG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation