Incidental Mutation 'R3972:Tpcn1'
| ID |
311016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpcn1
|
| Ensembl Gene |
ENSMUSG00000032741 |
| Gene Name |
two pore channel 1 |
| Synonyms |
5730403B01Rik |
| MMRRC Submission |
040840-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3972 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
120672222-120726731 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 120691817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046426]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000200708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201971
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
G |
17: 72,292,442 (GRCm39) |
D512A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,720,393 (GRCm39) |
F477S |
probably damaging |
Het |
| C7 |
C |
T |
15: 5,037,133 (GRCm39) |
V582I |
possibly damaging |
Het |
| Cldn20 |
A |
G |
17: 3,582,914 (GRCm39) |
N29S |
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,336,522 (GRCm39) |
A251T |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,685,943 (GRCm39) |
D131V |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,707,344 (GRCm39) |
K248R |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fgf1 |
T |
C |
18: 38,980,147 (GRCm39) |
T76A |
probably benign |
Het |
| Gucy2c |
C |
T |
6: 136,685,364 (GRCm39) |
R859K |
probably damaging |
Het |
| Irf2bp1 |
T |
A |
7: 18,739,369 (GRCm39) |
D336E |
possibly damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,513 (GRCm39) |
H158R |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,881,210 (GRCm39) |
C2814R |
possibly damaging |
Het |
| Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mrpl16 |
A |
G |
19: 11,750,239 (GRCm39) |
N41S |
probably benign |
Het |
| Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,194,991 (GRCm39) |
C29F |
probably benign |
Het |
| Or4d11 |
G |
T |
19: 12,013,383 (GRCm39) |
T241N |
probably damaging |
Het |
| Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
| Otp |
T |
G |
13: 95,019,692 (GRCm39) |
L181R |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,117,513 (GRCm39) |
T592A |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,111,739 (GRCm39) |
Y1579H |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,224 (GRCm39) |
V864A |
probably benign |
Het |
| Reln |
A |
T |
5: 22,183,999 (GRCm39) |
F1667I |
probably damaging |
Het |
| Serpinb10 |
T |
A |
1: 107,463,852 (GRCm39) |
F45I |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,248,649 (GRCm39) |
N422K |
probably damaging |
Het |
| Slc17a7 |
A |
G |
7: 44,819,334 (GRCm39) |
I137V |
possibly damaging |
Het |
| Tet1 |
T |
A |
10: 62,649,505 (GRCm39) |
E67D |
probably damaging |
Het |
| Trav9-4 |
T |
C |
14: 53,913,877 (GRCm39) |
Y44H |
possibly damaging |
Het |
| Trmt1l |
A |
G |
1: 151,309,634 (GRCm39) |
N106D |
possibly damaging |
Het |
| Ttll12 |
A |
T |
15: 83,466,297 (GRCm39) |
L388Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubfd1 |
T |
G |
7: 121,666,656 (GRCm39) |
S51A |
probably benign |
Het |
| Uckl1 |
T |
C |
2: 181,216,256 (GRCm39) |
D148G |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,803 (GRCm39) |
L2571S |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,861,714 (GRCm39) |
V718A |
probably benign |
Het |
| Zfp266 |
A |
G |
9: 20,411,446 (GRCm39) |
S244P |
probably damaging |
Het |
| Zfp979 |
G |
A |
4: 147,702,876 (GRCm39) |
Q25* |
probably null |
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 |
|
|
R2497:Tpcn1
|
UTSW |
5 |
120,677,063 (GRCm39) |
splice site |
probably null |
|
|
R3965:Tpcn1
|
UTSW |
5 |
120,694,640 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TCTGGAAAGCTGTGTGCATG -3'
(R):5'- ATACTCCCATGTGCACTGC -3'
Sequencing Primer
(F):5'- CTTAGCCTCTAAGGATGCACC -3'
(R):5'- TGCACTGCACCTCCGCC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation