Incidental Mutation 'IGL02197:Tpcn1'
| ID |
284096 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tpcn1
|
| Ensembl Gene |
ENSMUSG00000032741 |
| Gene Name |
two pore channel 1 |
| Synonyms |
5730403B01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02197
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120672222-120726731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120691596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 286
(V286A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046426]
|
| AlphaFold |
Q9EQJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046426
AA Change: V286A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: V286A
| 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 |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
T |
C |
2: 20,885,117 (GRCm39) |
S526G |
probably benign |
Het |
| Atad2b |
A |
T |
12: 5,068,056 (GRCm39) |
N1018I |
possibly damaging |
Het |
| Baz1b |
A |
G |
5: 135,237,951 (GRCm39) |
E209G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,960,884 (GRCm39) |
T445A |
probably damaging |
Het |
| Capn11 |
T |
A |
17: 45,950,782 (GRCm39) |
T264S |
probably benign |
Het |
| Cdh1 |
A |
G |
8: 107,380,418 (GRCm39) |
E187G |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,196,923 (GRCm39) |
I325V |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,687,152 (GRCm39) |
|
probably benign |
Het |
| Dnaaf3 |
T |
C |
7: 4,530,496 (GRCm39) |
D203G |
probably damaging |
Het |
| Eif2ak3 |
A |
G |
6: 70,878,441 (GRCm39) |
Y1045C |
probably benign |
Het |
| Fam13a |
T |
A |
6: 58,912,586 (GRCm39) |
D689V |
possibly damaging |
Het |
| Fnip1 |
T |
A |
11: 54,384,200 (GRCm39) |
L342I |
probably damaging |
Het |
| Frk |
T |
A |
10: 34,360,330 (GRCm39) |
N110K |
probably damaging |
Het |
| Gm5134 |
T |
C |
10: 75,790,536 (GRCm39) |
|
probably null |
Het |
| Gm53 |
T |
C |
11: 96,142,549 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9312 |
A |
T |
12: 24,302,163 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9936 |
A |
G |
5: 114,995,152 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
A |
G |
13: 55,162,281 (GRCm39) |
F108L |
probably damaging |
Het |
| Homer2 |
A |
T |
7: 81,260,147 (GRCm39) |
S296T |
probably benign |
Het |
| Itga2b |
T |
A |
11: 102,357,145 (GRCm39) |
H245L |
probably benign |
Het |
| Ky |
T |
C |
9: 102,414,985 (GRCm39) |
F299S |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,849,012 (GRCm39) |
Y224H |
possibly damaging |
Het |
| Leng9 |
G |
T |
7: 4,151,723 (GRCm39) |
L318I |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,608,408 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,297,224 (GRCm39) |
I3246V |
probably benign |
Het |
| Map2k3 |
A |
G |
11: 60,837,590 (GRCm39) |
Y230C |
probably damaging |
Het |
| Myef2 |
T |
C |
2: 124,955,959 (GRCm39) |
|
probably null |
Het |
| Myh3 |
A |
T |
11: 66,989,409 (GRCm39) |
I1510L |
probably benign |
Het |
| Mypn |
T |
C |
10: 62,959,057 (GRCm39) |
D1088G |
possibly damaging |
Het |
| Nek9 |
C |
A |
12: 85,354,704 (GRCm39) |
V745L |
probably null |
Het |
| Neu1 |
T |
A |
17: 35,153,641 (GRCm39) |
V355D |
possibly damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Or4c107 |
A |
G |
2: 88,789,028 (GRCm39) |
T73A |
probably benign |
Het |
| Or6e1 |
T |
C |
14: 54,519,409 (GRCm39) |
*314W |
probably null |
Het |
| Papola |
A |
T |
12: 105,795,442 (GRCm39) |
N631I |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,965,878 (GRCm39) |
S682P |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,039,925 (GRCm39) |
S2071P |
possibly damaging |
Het |
| Pga5 |
A |
G |
19: 10,649,277 (GRCm39) |
|
probably benign |
Het |
| Phlda1 |
T |
A |
10: 111,343,014 (GRCm39) |
M250K |
probably damaging |
Het |
| Phox2b |
A |
G |
5: 67,253,869 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
A |
G |
15: 85,699,994 (GRCm39) |
Y1981H |
possibly damaging |
Het |
| Pold1 |
G |
A |
7: 44,191,663 (GRCm39) |
P108S |
probably benign |
Het |
| Ptprg |
T |
G |
14: 12,220,613 (GRCm38) |
F442V |
probably damaging |
Het |
| Rab36 |
A |
G |
10: 74,887,874 (GRCm39) |
I248M |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,502,113 (GRCm39) |
R257Q |
probably null |
Het |
| Sdc1 |
A |
G |
12: 8,840,835 (GRCm39) |
Q200R |
possibly damaging |
Het |
| Slc10a7 |
A |
G |
8: 79,242,292 (GRCm39) |
T60A |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,156,800 (GRCm39) |
D484G |
probably damaging |
Het |
| Tlr1 |
G |
A |
5: 65,083,797 (GRCm39) |
T260M |
probably damaging |
Het |
| Traip |
T |
G |
9: 107,845,936 (GRCm39) |
L343R |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,165,828 (GRCm39) |
H204R |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,569,224 (GRCm39) |
S960G |
probably benign |
Het |
| V1ra8 |
C |
T |
6: 90,180,184 (GRCm39) |
P129L |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,930,202 (GRCm39) |
F3980I |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,854,879 (GRCm39) |
N2248S |
probably benign |
Het |
| Vps26c |
G |
T |
16: 94,302,549 (GRCm39) |
|
probably benign |
Het |
| Wnk4 |
T |
C |
11: 101,154,783 (GRCm39) |
L324P |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation