Incidental Mutation 'R2364:Tpcn1'
| ID |
247269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpcn1
|
| Ensembl Gene |
ENSMUSG00000032741 |
| Gene Name |
two pore channel 1 |
| Synonyms |
5730403B01Rik |
| MMRRC Submission |
040345-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2364 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
120672222-120726731 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 120691559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 298
(C298*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046426]
|
| AlphaFold |
Q9EQJ0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046426
AA Change: C298*
|
| SMART Domains |
Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: C298*
| 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: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
A |
G |
3: 137,871,584 (GRCm39) |
S268P |
probably benign |
Het |
| Adam6a |
A |
G |
12: 113,508,250 (GRCm39) |
K208E |
probably benign |
Het |
| Anks6 |
A |
G |
4: 47,027,248 (GRCm39) |
S725P |
possibly damaging |
Het |
| Asb3 |
A |
G |
11: 31,051,192 (GRCm39) |
I549V |
probably benign |
Het |
| Blvrb |
A |
G |
7: 27,147,558 (GRCm39) |
I6V |
possibly damaging |
Het |
| Cabs1 |
A |
T |
5: 88,128,092 (GRCm39) |
T248S |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,279,046 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,097,872 (GRCm39) |
L39* |
probably null |
Het |
| Gstm5 |
A |
G |
3: 107,803,687 (GRCm39) |
E40G |
probably benign |
Het |
| Hnrnpr |
A |
G |
4: 136,054,640 (GRCm39) |
M97V |
possibly damaging |
Het |
| Hs6st1 |
T |
C |
1: 36,107,800 (GRCm39) |
V21A |
probably benign |
Het |
| Hsp90aa1 |
A |
T |
12: 110,659,187 (GRCm39) |
F537I |
probably damaging |
Het |
| Insr |
T |
C |
8: 3,224,820 (GRCm39) |
D216G |
probably benign |
Het |
| Kif2a |
A |
T |
13: 107,113,344 (GRCm39) |
N428K |
probably damaging |
Het |
| Mapk10 |
G |
T |
5: 103,186,507 (GRCm39) |
N38K |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,185,344 (GRCm39) |
E865G |
probably benign |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,887,577 (GRCm39) |
Y252H |
probably damaging |
Het |
| Or4k6 |
A |
T |
14: 50,475,612 (GRCm39) |
H243Q |
probably damaging |
Het |
| Or5b104 |
A |
G |
19: 13,072,118 (GRCm39) |
V298A |
probably damaging |
Het |
| Os9 |
T |
A |
10: 126,955,007 (GRCm39) |
K180N |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,991 (GRCm39) |
I506F |
probably damaging |
Het |
| Pros1 |
T |
G |
16: 62,734,211 (GRCm39) |
L339R |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,209 (GRCm39) |
I266V |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,899,391 (GRCm39) |
V632A |
probably damaging |
Het |
| Ubfd1 |
T |
A |
7: 121,668,167 (GRCm39) |
D232E |
probably benign |
Het |
| Vamp1 |
A |
T |
6: 125,217,306 (GRCm39) |
I117L |
probably benign |
Het |
| Wwtr1 |
T |
C |
3: 57,370,024 (GRCm39) |
T364A |
possibly damaging |
Het |
| Zbtb47 |
C |
T |
9: 121,596,660 (GRCm39) |
P672L |
probably damaging |
Het |
| Zfp143 |
C |
A |
7: 109,682,449 (GRCm39) |
T339K |
probably damaging |
Het |
| Zfp317 |
A |
G |
9: 19,559,031 (GRCm39) |
D415G |
probably benign |
Het |
| Zfp628 |
A |
G |
7: 4,923,686 (GRCm39) |
H636R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTTTCACTGCAGGGGTGG -3'
(R):5'- TCTCAGTGAACACAGGGCTG -3'
Sequencing Primer
(F):5'- CGGCACCATCTACAAAGTGGAG -3'
(R):5'- TGAACACAGGGCTGAGTGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation