Incidental Mutation 'R2497:Tpcn1'
| ID |
251049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpcn1
|
| Ensembl Gene |
ENSMUSG00000032741 |
| Gene Name |
two pore channel 1 |
| Synonyms |
5730403B01Rik |
| MMRRC Submission |
040411-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2497 (G1)
|
| Quality Score |
159 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120672222-120726731 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 120677063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046426]
[ENSMUST00000068326]
[ENSMUST00000076051]
[ENSMUST00000111890]
|
| AlphaFold |
Q9EQJ0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046426
|
| SMART Domains |
Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
106 |
332 |
1.5e-30 |
PFAM |
|
Pfam:Ion_trans
|
441 |
695 |
1.2e-31 |
PFAM |
|
SCOP:d1fxkc_
|
713 |
795 |
2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068326
|
| SMART Domains |
Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
103 |
246 |
5.7e-25 |
PFAM |
|
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
351 |
N/A |
INTRINSIC |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
transmembrane domain
|
387 |
409 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
421 |
574 |
1.8e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076051
|
| SMART Domains |
Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
113 |
244 |
9.2e-19 |
PFAM |
|
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
|
transmembrane domain
|
323 |
345 |
N/A |
INTRINSIC |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
transmembrane domain
|
387 |
409 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
431 |
477 |
2.3e-8 |
PFAM |
|
low complexity region
|
507 |
519 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111890
|
| SMART Domains |
Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
116 |
227 |
2.8e-12 |
PFAM |
|
low complexity region
|
245 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
334 |
N/A |
INTRINSIC |
|
transmembrane domain
|
343 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
370 |
392 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
414 |
555 |
3.2e-27 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous inactivation of this gene results in no apparent phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
A |
G |
14: 8,251,612 (GRCm38) |
V295A |
probably benign |
Het |
| Agrn |
T |
C |
4: 156,258,268 (GRCm39) |
E959G |
probably benign |
Het |
| Aqp5 |
T |
C |
15: 99,489,180 (GRCm39) |
F10L |
possibly damaging |
Het |
| Arhgap39 |
C |
A |
15: 76,609,585 (GRCm39) |
V1025L |
probably damaging |
Het |
| Atg4d |
C |
T |
9: 21,184,682 (GRCm39) |
R459* |
probably null |
Het |
| Atp11b |
A |
G |
3: 35,909,294 (GRCm39) |
S1163G |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,157,889 (GRCm39) |
S173* |
probably null |
Het |
| Atp6v1g2 |
T |
A |
17: 35,455,762 (GRCm39) |
I8N |
probably damaging |
Het |
| Ccdc77 |
C |
T |
6: 120,302,433 (GRCm39) |
G430R |
possibly damaging |
Het |
| Cdc34b |
A |
G |
11: 94,633,207 (GRCm39) |
T136A |
probably benign |
Het |
| Cdkal1 |
A |
G |
13: 29,658,524 (GRCm39) |
S23P |
unknown |
Het |
| Cdkl2 |
T |
A |
5: 92,156,857 (GRCm39) |
H566L |
probably benign |
Het |
| Cers6 |
T |
C |
2: 68,901,790 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,421,432 (GRCm39) |
V98A |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,466,140 (GRCm39) |
T557A |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,234,513 (GRCm39) |
T192A |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
G |
11: 117,977,850 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
C |
T |
17: 30,960,339 (GRCm39) |
Q2239* |
probably null |
Het |
| Dscaml1 |
T |
C |
9: 45,656,376 (GRCm39) |
V1572A |
probably benign |
Het |
| Elfn2 |
C |
G |
15: 78,558,464 (GRCm39) |
E28Q |
probably damaging |
Het |
| Enam |
T |
A |
5: 88,650,553 (GRCm39) |
N687K |
probably benign |
Het |
| Flywch1 |
G |
A |
17: 23,974,685 (GRCm39) |
R652W |
probably benign |
Het |
| Gm5612 |
T |
C |
9: 18,338,975 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
C |
T |
8: 26,435,280 (GRCm39) |
W618* |
probably null |
Het |
| Mmp3 |
A |
G |
9: 7,450,131 (GRCm39) |
T288A |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,491,649 (GRCm39) |
F168L |
probably damaging |
Het |
| Mtres1 |
T |
C |
10: 43,401,263 (GRCm39) |
|
probably benign |
Het |
| Myo1d |
T |
A |
11: 80,565,647 (GRCm39) |
N393Y |
probably damaging |
Het |
| Nacc2 |
A |
T |
2: 25,979,580 (GRCm39) |
Y285* |
probably null |
Het |
| Nf1 |
G |
T |
11: 79,334,710 (GRCm39) |
G844V |
probably damaging |
Het |
| Nox4 |
T |
A |
7: 86,945,084 (GRCm39) |
Y113* |
probably null |
Het |
| Pcdha3 |
T |
C |
18: 37,080,556 (GRCm39) |
C433R |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,142,142 (GRCm39) |
I358V |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,211,700 (GRCm39) |
D819V |
possibly damaging |
Het |
| Phf3 |
C |
A |
1: 30,869,095 (GRCm39) |
R651L |
probably damaging |
Het |
| Prrx1 |
A |
G |
1: 163,075,834 (GRCm39) |
V244A |
possibly damaging |
Het |
| Ptges |
C |
T |
2: 30,782,722 (GRCm39) |
G110D |
possibly damaging |
Het |
| Rab27a |
T |
C |
9: 72,992,263 (GRCm39) |
L97P |
probably damaging |
Het |
| Rnf20 |
G |
A |
4: 49,652,676 (GRCm39) |
|
probably null |
Het |
| Sdad1 |
T |
C |
5: 92,447,958 (GRCm39) |
N259S |
probably benign |
Het |
| Serpinb9d |
T |
C |
13: 33,380,500 (GRCm39) |
S129P |
probably damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,282,620 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
T |
A |
1: 189,617,534 (GRCm39) |
N300I |
possibly damaging |
Het |
| Snd1 |
A |
G |
6: 28,888,078 (GRCm39) |
I875V |
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,096,919 (GRCm39) |
N174S |
probably damaging |
Het |
| Stimate |
C |
T |
14: 30,594,537 (GRCm39) |
L217F |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,564,319 (GRCm39) |
|
probably null |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
A |
T |
11: 82,827,269 (GRCm39) |
I699F |
probably damaging |
Het |
| Uspl1 |
C |
T |
5: 149,124,664 (GRCm39) |
P27L |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,043,535 (GRCm39) |
P91R |
probably damaging |
Het |
| Zdhhc23 |
G |
A |
16: 43,794,278 (GRCm39) |
T132M |
probably damaging |
Het |
| Zfp148 |
T |
C |
16: 33,316,755 (GRCm39) |
Y434H |
probably damaging |
Het |
| Zhx2 |
T |
C |
15: 57,686,551 (GRCm39) |
V640A |
possibly damaging |
Het |
|
| Other mutations in Tpcn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00544:Tpcn1
|
APN |
5 |
120,683,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00551:Tpcn1
|
APN |
5 |
120,698,390 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02197:Tpcn1
|
APN |
5 |
120,691,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02584:Tpcn1
|
APN |
5 |
120,677,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03064:Tpcn1
|
APN |
5 |
120,675,631 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
PIT1430001:Tpcn1
|
UTSW |
5 |
120,686,388 (GRCm39) |
splice site |
probably benign |
|
|
R0295:Tpcn1
|
UTSW |
5 |
120,677,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Tpcn1
|
UTSW |
5 |
120,677,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1577:Tpcn1
|
UTSW |
5 |
120,682,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1660:Tpcn1
|
UTSW |
5 |
120,687,580 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1819:Tpcn1
|
UTSW |
5 |
120,674,292 (GRCm39) |
splice site |
probably null |
|
|
R2051:Tpcn1
|
UTSW |
5 |
120,681,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2364:Tpcn1
|
UTSW |
5 |
120,691,559 (GRCm39) |
nonsense |
probably null |
|
|
R3965:Tpcn1
|
UTSW |
5 |
120,694,640 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3972:Tpcn1
|
UTSW |
5 |
120,691,817 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4062:Tpcn1
|
UTSW |
5 |
120,695,962 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4343:Tpcn1
|
UTSW |
5 |
120,698,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4422:Tpcn1
|
UTSW |
5 |
120,680,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4423:Tpcn1
|
UTSW |
5 |
120,680,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Tpcn1
|
UTSW |
5 |
120,680,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4655:Tpcn1
|
UTSW |
5 |
120,677,322 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4831:Tpcn1
|
UTSW |
5 |
120,691,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Tpcn1
|
UTSW |
5 |
120,694,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4948:Tpcn1
|
UTSW |
5 |
120,694,596 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4965:Tpcn1
|
UTSW |
5 |
120,685,552 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4976:Tpcn1
|
UTSW |
5 |
120,698,387 (GRCm39) |
missense |
probably benign |
|
|
R5071:Tpcn1
|
UTSW |
5 |
120,686,334 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5165:Tpcn1
|
UTSW |
5 |
120,696,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5210:Tpcn1
|
UTSW |
5 |
120,677,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5910:Tpcn1
|
UTSW |
5 |
120,685,462 (GRCm39) |
intron |
probably benign |
|
|
R5939:Tpcn1
|
UTSW |
5 |
120,677,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Tpcn1
|
UTSW |
5 |
120,691,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6633:Tpcn1
|
UTSW |
5 |
120,682,529 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6650:Tpcn1
|
UTSW |
5 |
120,675,627 (GRCm39) |
missense |
probably null |
0.50 |
|
R6885:Tpcn1
|
UTSW |
5 |
120,682,502 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7038:Tpcn1
|
UTSW |
5 |
120,723,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7247:Tpcn1
|
UTSW |
5 |
120,723,315 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7594:Tpcn1
|
UTSW |
5 |
120,694,595 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7629:Tpcn1
|
UTSW |
5 |
120,676,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7854:Tpcn1
|
UTSW |
5 |
120,687,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8478:Tpcn1
|
UTSW |
5 |
120,698,386 (GRCm39) |
missense |
probably benign |
|
|
R8967:Tpcn1
|
UTSW |
5 |
120,694,023 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8970:Tpcn1
|
UTSW |
5 |
120,682,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9137:Tpcn1
|
UTSW |
5 |
120,695,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9158:Tpcn1
|
UTSW |
5 |
120,687,988 (GRCm39) |
splice site |
probably benign |
|
|
R9179:Tpcn1
|
UTSW |
5 |
120,680,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9180:Tpcn1
|
UTSW |
5 |
120,694,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9241:Tpcn1
|
UTSW |
5 |
120,691,558 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9341:Tpcn1
|
UTSW |
5 |
120,678,737 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9343:Tpcn1
|
UTSW |
5 |
120,678,737 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9502:Tpcn1
|
UTSW |
5 |
120,698,390 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9594:Tpcn1
|
UTSW |
5 |
120,686,021 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGATGGCAGCTACTTGTTATAC -3'
(R):5'- ACATAGTGACCATGGTAGGTGTC -3'
Sequencing Primer
(F):5'- TATACATTTAGGAACCGTGGGC -3'
(R):5'- ATGGTAGGTGTCGCCACAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation