Incidental Mutation 'R1660:Tpcn1'
| ID |
186656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpcn1
|
| Ensembl Gene |
ENSMUSG00000032741 |
| Gene Name |
two pore channel 1 |
| Synonyms |
5730403B01Rik |
| MMRRC Submission |
039696-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1660 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
120672222-120726731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120687580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 388
(N388S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046426]
|
| AlphaFold |
Q9EQJ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046426
AA Change: N388S
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: N388S
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
A |
19: 31,870,507 (GRCm39) |
S3* |
probably null |
Het |
| Adgrv1 |
C |
T |
13: 81,624,750 (GRCm39) |
V3740I |
probably benign |
Het |
| Aida |
T |
C |
1: 183,079,127 (GRCm39) |
F22S |
probably damaging |
Het |
| Ankrd65 |
A |
T |
4: 155,876,528 (GRCm39) |
D220V |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,123,209 (GRCm39) |
C279* |
probably null |
Het |
| Ap3b1 |
T |
C |
13: 94,545,320 (GRCm39) |
V191A |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,117,884 (GRCm39) |
K595E |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,608,305 (GRCm39) |
T98A |
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,014,427 (GRCm39) |
S116T |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,656,582 (GRCm39) |
F429S |
possibly damaging |
Het |
| Ckap5 |
C |
A |
2: 91,393,303 (GRCm39) |
Q395K |
possibly damaging |
Het |
| Cntn4 |
T |
A |
6: 106,656,258 (GRCm39) |
I853K |
probably benign |
Het |
| Cyp2g1 |
G |
A |
7: 26,509,107 (GRCm39) |
|
probably null |
Het |
| Dhx57 |
C |
T |
17: 80,553,157 (GRCm39) |
V1257I |
possibly damaging |
Het |
| Disp1 |
A |
T |
1: 182,869,306 (GRCm39) |
V1038D |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,358,314 (GRCm39) |
S462T |
possibly damaging |
Het |
| Dnaaf10 |
A |
T |
11: 17,177,183 (GRCm39) |
E180D |
probably benign |
Het |
| Exoc3l |
A |
G |
8: 106,019,692 (GRCm39) |
|
probably null |
Het |
| Fam210a |
T |
C |
18: 68,409,167 (GRCm39) |
T48A |
probably benign |
Het |
| Fbxw5 |
G |
A |
2: 25,393,286 (GRCm39) |
|
probably null |
Het |
| Fkbp9 |
T |
C |
6: 56,850,434 (GRCm39) |
C437R |
probably damaging |
Het |
| Gpc5 |
A |
G |
14: 115,636,691 (GRCm39) |
K458R |
probably benign |
Het |
| Grik2 |
C |
A |
10: 49,120,439 (GRCm39) |
G56* |
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,238,706 (GRCm39) |
T492A |
probably damaging |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Lrrc51 |
T |
C |
7: 101,562,645 (GRCm39) |
Y145C |
probably damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,849,029 (GRCm39) |
I682F |
possibly damaging |
Het |
| Mttp |
A |
T |
3: 137,808,954 (GRCm39) |
V718D |
probably damaging |
Het |
| Myt1l |
T |
A |
12: 29,945,272 (GRCm39) |
D1012E |
unknown |
Het |
| Nbn |
G |
A |
4: 15,971,771 (GRCm39) |
G301D |
probably benign |
Het |
| Ncstn |
T |
A |
1: 171,894,339 (GRCm39) |
S677C |
possibly damaging |
Het |
| Nod1 |
C |
A |
6: 54,921,218 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
A |
G |
1: 170,342,206 (GRCm39) |
V52A |
possibly damaging |
Het |
| Or51f2 |
T |
G |
7: 102,526,863 (GRCm39) |
Y179D |
probably damaging |
Het |
| Or52z14 |
T |
A |
7: 103,252,882 (GRCm39) |
L7* |
probably null |
Het |
| Or5b98 |
T |
A |
19: 12,931,055 (GRCm39) |
I34N |
probably damaging |
Het |
| Or5h23 |
T |
A |
16: 58,906,706 (GRCm39) |
I47F |
probably benign |
Het |
| Phf13 |
T |
C |
4: 152,076,962 (GRCm39) |
I77V |
probably benign |
Het |
| Pias2 |
A |
G |
18: 77,207,825 (GRCm39) |
K230E |
probably damaging |
Het |
| Poli |
A |
G |
18: 70,642,535 (GRCm39) |
L469P |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,607,177 (GRCm39) |
T973S |
possibly damaging |
Het |
| Prpf40b |
C |
A |
15: 99,203,442 (GRCm39) |
H101Q |
probably damaging |
Het |
| Prss50 |
T |
C |
9: 110,691,557 (GRCm39) |
V287A |
possibly damaging |
Het |
| Rbm25 |
C |
T |
12: 83,714,924 (GRCm39) |
|
probably benign |
Het |
| Rcor2 |
T |
C |
19: 7,246,337 (GRCm39) |
V4A |
probably damaging |
Het |
| Rnf180 |
T |
C |
13: 105,407,499 (GRCm39) |
T17A |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,340,440 (GRCm39) |
V179E |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,446,458 (GRCm39) |
S2835T |
probably damaging |
Het |
| Serpinb3c |
T |
A |
1: 107,199,432 (GRCm39) |
H363L |
probably damaging |
Het |
| Setd1a |
T |
C |
7: 127,395,841 (GRCm39) |
|
probably benign |
Het |
| Skp2 |
A |
C |
15: 9,125,201 (GRCm39) |
V126G |
probably benign |
Het |
| Snph |
G |
A |
2: 151,436,398 (GRCm39) |
Q108* |
probably null |
Het |
| Snrpa1 |
T |
A |
7: 65,719,246 (GRCm39) |
V144E |
probably damaging |
Het |
| Tifab |
T |
C |
13: 56,324,248 (GRCm39) |
E65G |
probably damaging |
Het |
| Tmem201 |
A |
T |
4: 149,804,032 (GRCm39) |
Y468N |
probably damaging |
Het |
| Tssk4 |
A |
G |
14: 55,888,029 (GRCm39) |
Q75R |
probably null |
Het |
| Tuba4a |
T |
C |
1: 75,192,547 (GRCm39) |
N356D |
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,287,477 (GRCm39) |
D230V |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,648,261 (GRCm39) |
V4622A |
probably benign |
Het |
| Vmn2r11 |
T |
G |
5: 109,201,724 (GRCm39) |
Y260S |
possibly damaging |
Het |
| Vmn2r89 |
C |
A |
14: 51,693,693 (GRCm39) |
H348N |
possibly damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,817,988 (GRCm39) |
M714L |
probably benign |
Het |
| Zbtb18 |
T |
C |
1: 177,275,329 (GRCm39) |
S221P |
probably benign |
Het |
| Zfp418 |
A |
G |
7: 7,184,789 (GRCm39) |
T251A |
probably benign |
Het |
| Zmynd15 |
A |
G |
11: 70,354,328 (GRCm39) |
Y267C |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAACCTCTTTGCTACAGGACAG -3'
(R):5'- CTATGGGAGAAATGCAGGTCCCAC -3'
Sequencing Primer
(F):5'- agctgtcttcagacacacc -3'
(R):5'- GGCAGTTCGAAGGCTTAATG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation