Incidental Mutation 'R0217:Trpc7'
ID |
33634 |
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 |
038466-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R0217 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
13 |
Chromosomal Location |
56920911-57043778 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 56937581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 570
(W570*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022023]
[ENSMUST00000109871]
[ENSMUST00000151918]
[ENSMUST00000174457]
[ENSMUST00000173817]
|
AlphaFold |
Q9WVC5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022023
AA Change: W625*
|
SMART Domains |
Protein: ENSMUSP00000022023 Gene: ENSMUSG00000021541 AA Change: W625*
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: W625*
|
SMART Domains |
Protein: ENSMUSP00000105497 Gene: ENSMUSG00000021541 AA Change: W625*
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: W508*
|
SMART Domains |
Protein: ENSMUSP00000134662 Gene: ENSMUSG00000021541 AA Change: W508*
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: ENSMUST00000174457
AA Change: W570*
|
SMART Domains |
Protein: ENSMUSP00000133305 Gene: ENSMUSG00000021541 AA Change: W570*
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000173817
AA Change: W564*
|
SMART Domains |
Protein: ENSMUSP00000133411 Gene: ENSMUSG00000021541 AA Change: W564*
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 |
|
Meta Mutation Damage Score |
0.9717 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
100% (62/62) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
T |
C |
7: 143,447,956 (GRCm39) |
|
probably benign |
Het |
Actr3 |
A |
G |
1: 125,335,150 (GRCm39) |
|
probably benign |
Het |
Adamts13 |
A |
G |
2: 26,886,933 (GRCm39) |
|
probably benign |
Het |
Afap1l1 |
A |
G |
18: 61,879,940 (GRCm39) |
V310A |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,599,912 (GRCm39) |
S2048R |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,385,618 (GRCm39) |
S421T |
possibly damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Ccdc150 |
T |
G |
1: 54,339,589 (GRCm39) |
S478A |
possibly damaging |
Het |
Ccnyl1 |
T |
A |
1: 64,752,257 (GRCm39) |
|
probably benign |
Het |
Cdc23 |
T |
C |
18: 34,784,718 (GRCm39) |
T15A |
unknown |
Het |
Cdk19 |
C |
T |
10: 40,352,254 (GRCm39) |
|
probably benign |
Het |
Comp |
A |
C |
8: 70,831,558 (GRCm39) |
D420A |
probably damaging |
Het |
Ctnnal1 |
T |
C |
4: 56,813,230 (GRCm39) |
H667R |
probably benign |
Het |
Cyp20a1 |
C |
A |
1: 60,382,625 (GRCm39) |
|
probably benign |
Het |
Eci3 |
A |
C |
13: 35,132,072 (GRCm39) |
S259A |
probably benign |
Het |
Fcnb |
T |
C |
2: 27,969,689 (GRCm39) |
D126G |
probably benign |
Het |
Foxk1 |
T |
C |
5: 142,387,649 (GRCm39) |
M124T |
possibly damaging |
Het |
Gm12790 |
T |
C |
4: 101,825,231 (GRCm39) |
Y61C |
probably damaging |
Het |
Hmgcr |
A |
C |
13: 96,788,488 (GRCm39) |
I777S |
probably damaging |
Het |
Hsdl2 |
A |
G |
4: 59,597,311 (GRCm39) |
E100G |
probably damaging |
Het |
Itgb2 |
G |
T |
10: 77,384,370 (GRCm39) |
|
probably benign |
Het |
Jak2 |
T |
A |
19: 29,274,050 (GRCm39) |
|
probably null |
Het |
Lrba |
T |
C |
3: 86,550,029 (GRCm39) |
S2333P |
probably damaging |
Het |
Man1a2 |
A |
G |
3: 100,524,353 (GRCm39) |
L365P |
possibly damaging |
Het |
Map2k5 |
A |
T |
9: 63,164,257 (GRCm39) |
|
probably null |
Het |
Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
Megf8 |
T |
A |
7: 25,063,504 (GRCm39) |
L2620Q |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,319,400 (GRCm39) |
|
probably benign |
Het |
Or11h7 |
A |
G |
14: 50,891,552 (GRCm39) |
N286S |
probably damaging |
Het |
Or1e30 |
T |
A |
11: 73,678,214 (GRCm39) |
V150E |
possibly damaging |
Het |
Or5p1 |
C |
A |
7: 107,916,505 (GRCm39) |
H135N |
probably benign |
Het |
Pank3 |
T |
A |
11: 35,668,555 (GRCm39) |
D181E |
probably benign |
Het |
Pip5k1a |
A |
G |
3: 94,981,302 (GRCm39) |
|
probably null |
Het |
Plag1 |
A |
C |
4: 3,904,379 (GRCm39) |
S271A |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,326,906 (GRCm39) |
I280N |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,940,687 (GRCm39) |
V1007A |
probably benign |
Het |
Ppm1h |
T |
A |
10: 122,756,640 (GRCm39) |
D428E |
probably damaging |
Het |
Prelid2 |
A |
T |
18: 42,068,317 (GRCm39) |
|
probably benign |
Het |
Ptk2b |
T |
C |
14: 66,393,830 (GRCm39) |
Y881C |
probably damaging |
Het |
Rptor |
T |
C |
11: 119,785,738 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,542,387 (GRCm39) |
|
probably null |
Het |
Scaf4 |
T |
C |
16: 90,039,570 (GRCm39) |
D843G |
probably damaging |
Het |
Serpina3b |
C |
T |
12: 104,096,986 (GRCm39) |
A89V |
probably damaging |
Het |
Serpinb9d |
C |
A |
13: 33,382,005 (GRCm39) |
T158N |
possibly damaging |
Het |
Slc39a10 |
C |
T |
1: 46,874,700 (GRCm39) |
V201I |
probably benign |
Het |
Slc6a13 |
T |
A |
6: 121,301,279 (GRCm39) |
N189K |
probably damaging |
Het |
Smco1 |
G |
T |
16: 32,092,599 (GRCm39) |
R90L |
possibly damaging |
Het |
Stim1 |
T |
A |
7: 102,085,007 (GRCm39) |
M653K |
probably benign |
Het |
Stxbp1 |
T |
C |
2: 32,691,882 (GRCm39) |
S437G |
possibly damaging |
Het |
Stxbp3-ps |
T |
G |
19: 9,536,496 (GRCm39) |
|
noncoding transcript |
Het |
Tgtp1 |
A |
C |
11: 48,878,146 (GRCm39) |
S186R |
probably benign |
Het |
Trpv4 |
C |
A |
5: 114,772,722 (GRCm39) |
R289L |
possibly damaging |
Het |
Vmn2r82 |
A |
G |
10: 79,214,634 (GRCm39) |
M206V |
possibly damaging |
Het |
Wdr47 |
T |
A |
3: 108,544,336 (GRCm39) |
V653E |
probably damaging |
Het |
Zfp113 |
T |
C |
5: 138,148,953 (GRCm39) |
R64G |
probably benign |
Het |
Zfp661 |
C |
T |
2: 127,419,211 (GRCm39) |
E310K |
probably damaging |
Het |
Zfp735 |
T |
A |
11: 73,602,112 (GRCm39) |
I352N |
possibly damaging |
Het |
Zswim4 |
A |
G |
8: 84,939,293 (GRCm39) |
L863P |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,779,894 (GRCm39) |
I1889N |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGCAGAAAACGTGCTCCAGG -3'
(R):5'- ATTTCAGAGTGTAGGCAGTCGCAG -3'
Sequencing Primer
(F):5'- CTCCAGGGAGAATGTCTGTTAC -3'
(R):5'- GAGAGGGCAGCTTTCATGTT -3'
|
Posted On |
2013-05-09 |