Incidental Mutation 'R9158:Tpcn1'
| ID |
723518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpcn1
|
| Ensembl Gene |
ENSMUSG00000032741 |
| Gene Name |
two pore channel 1 |
| Synonyms |
5730403B01Rik |
| MMRRC Submission |
068942-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9158 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120672222-120726731 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 120687988 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 benign
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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
A |
8: 41,208,645 (GRCm39) |
C637Y |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,792,505 (GRCm39) |
T1249A |
possibly damaging |
Het |
| Alkbh3 |
A |
G |
2: 93,835,082 (GRCm39) |
S88P |
probably damaging |
Het |
| Ankrd17 |
C |
A |
5: 90,416,575 (GRCm39) |
A1086S |
probably damaging |
Het |
| Ankzf1 |
T |
A |
1: 75,173,020 (GRCm39) |
V372E |
probably damaging |
Het |
| Apbb1ip |
T |
C |
2: 22,764,951 (GRCm39) |
V544A |
probably benign |
Het |
| Atp13a2 |
T |
C |
4: 140,724,112 (GRCm39) |
|
probably null |
Het |
| Cacna2d1 |
A |
G |
5: 16,140,039 (GRCm39) |
T10A |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,546,356 (GRCm38) |
N500S |
probably benign |
Het |
| Casp16 |
A |
G |
17: 23,769,948 (GRCm39) |
|
probably benign |
Het |
| Cdh22 |
T |
A |
2: 165,012,627 (GRCm39) |
I153F |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,521,251 (GRCm39) |
E964G |
probably benign |
Het |
| Cracdl |
A |
T |
1: 37,670,442 (GRCm39) |
M166K |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,198 (GRCm39) |
D65G |
probably benign |
Het |
| Dap3 |
A |
G |
3: 88,832,637 (GRCm39) |
Y357H |
probably damaging |
Het |
| Eef2 |
C |
T |
10: 81,014,693 (GRCm39) |
|
probably benign |
Het |
| Gja4 |
A |
G |
4: 127,206,466 (GRCm39) |
L99P |
probably damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,765,005 (GRCm39) |
Y135* |
probably null |
Het |
| Gm5114 |
T |
G |
7: 39,060,486 (GRCm39) |
D121A |
probably damaging |
Het |
| Gm6525 |
A |
G |
3: 84,082,255 (GRCm39) |
K59E |
probably benign |
Het |
| Herc1 |
C |
T |
9: 66,376,400 (GRCm39) |
L3407F |
probably benign |
Het |
| Hmgcr |
G |
A |
13: 96,792,170 (GRCm39) |
R589* |
probably null |
Het |
| Iglv3 |
A |
C |
16: 19,060,012 (GRCm39) |
D105E |
probably damaging |
Het |
| Il1r1 |
G |
A |
1: 40,332,391 (GRCm39) |
W60* |
probably null |
Het |
| Il31ra |
C |
T |
13: 112,670,394 (GRCm39) |
W331* |
probably null |
Het |
| Inca1 |
C |
T |
11: 70,581,376 (GRCm39) |
C16Y |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,442,552 (GRCm39) |
T628A |
possibly damaging |
Het |
| Kdm2a |
C |
G |
19: 4,374,715 (GRCm39) |
R805S |
possibly damaging |
Het |
| Kel |
T |
A |
6: 41,664,905 (GRCm39) |
I620L |
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,741,020 (GRCm39) |
G4638R |
unknown |
Het |
| Lilrb4b |
T |
A |
10: 51,357,829 (GRCm39) |
N174K |
possibly damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Ltf |
T |
A |
9: 110,868,003 (GRCm39) |
V615E |
probably damaging |
Het |
| Map7d1 |
G |
T |
4: 126,130,478 (GRCm39) |
Q443K |
possibly damaging |
Het |
| Mapk9 |
A |
G |
11: 49,745,095 (GRCm39) |
D3G |
probably benign |
Het |
| Nktr |
T |
G |
9: 121,582,154 (GRCm39) |
S1424A |
unknown |
Het |
| Npas1 |
A |
G |
7: 16,195,333 (GRCm39) |
S332P |
possibly damaging |
Het |
| Or13a25 |
T |
C |
7: 140,247,547 (GRCm39) |
S109P |
possibly damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,086 (GRCm39) |
Y295C |
probably damaging |
Het |
| Or5ak4 |
A |
G |
2: 85,161,348 (GRCm39) |
I298T |
probably benign |
Het |
| Or6d12 |
T |
C |
6: 116,492,791 (GRCm39) |
F18L |
possibly damaging |
Het |
| Or8b12b |
C |
A |
9: 37,684,800 (GRCm39) |
P282T |
probably damaging |
Het |
| Pcdh8 |
A |
G |
14: 80,005,182 (GRCm39) |
W948R |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,195,614 (GRCm39) |
E100G |
probably benign |
Het |
| Phrf1 |
T |
A |
7: 140,836,466 (GRCm39) |
V246D |
unknown |
Het |
| Pitpnb |
A |
T |
5: 111,530,876 (GRCm39) |
N223I |
probably damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,394,207 (GRCm39) |
R2065* |
probably null |
Het |
| Prepl |
T |
C |
17: 85,383,379 (GRCm39) |
D355G |
possibly damaging |
Het |
| Runx2 |
A |
G |
17: 45,046,508 (GRCm39) |
V5A |
probably benign |
Het |
| Sema4g |
T |
A |
19: 44,986,846 (GRCm39) |
V433D |
possibly damaging |
Het |
| Sema6a |
C |
T |
18: 47,431,330 (GRCm39) |
V123I |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 79,994,732 (GRCm39) |
K24E |
probably benign |
Het |
| Slc22a8 |
T |
A |
19: 8,583,427 (GRCm39) |
S211T |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,221,217 (GRCm39) |
D221G |
possibly damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,637,166 (GRCm39) |
L323Q |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,018,050 (GRCm39) |
T311I |
probably benign |
Het |
| Tub |
T |
C |
7: 108,625,962 (GRCm39) |
F284L |
possibly damaging |
Het |
| Ube2j1 |
G |
A |
4: 33,036,711 (GRCm39) |
V12I |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,161 (GRCm39) |
N97Y |
probably benign |
Het |
| Vmn2r49 |
C |
A |
7: 9,722,835 (GRCm39) |
W146C |
probably damaging |
Het |
| Zfp628 |
T |
C |
7: 4,922,153 (GRCm39) |
L125P |
probably 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 |
|
|
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 |
|
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 |
|
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'- AATAGCCACAGGGTCACCAG -3'
(R):5'- CCTCAGTGAAAGCCCTGTATGG -3'
Sequencing Primer
(F):5'- CTCTGCCAAGCCAAAATGGTGG -3'
(R):5'- TGACCCCCGGATCCTGTAG -3'
|
| Posted On |
2022-08-17 |
Incidental Mutation