Incidental Mutation 'R5165:Tpcn1'
ID |
470559 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpcn1
|
Ensembl Gene |
ENSMUSG00000032741 |
Gene Name |
two pore channel 1 |
Synonyms |
5730403B01Rik |
MMRRC Submission |
042746-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5165 (G1)
|
Quality Score |
150 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
120672222-120726731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120696010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 81
(E81G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042188
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046426]
|
AlphaFold |
Q9EQJ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046426
AA Change: E81G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042188 Gene: ENSMUSG00000032741 AA Change: E81G
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
|
Meta Mutation Damage Score |
0.8667 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
98% (58/59) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actg2 |
T |
A |
6: 83,503,814 (GRCm39) |
I77F |
probably benign |
Het |
Actl6a |
G |
A |
3: 32,774,357 (GRCm39) |
V285I |
probably benign |
Het |
Adam9 |
A |
T |
8: 25,457,190 (GRCm39) |
I646N |
possibly damaging |
Het |
Ahnak |
T |
C |
19: 8,993,029 (GRCm39) |
I4771T |
possibly damaging |
Het |
Alas1 |
T |
C |
9: 106,118,454 (GRCm39) |
T223A |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,151,684 (GRCm39) |
E2246G |
probably damaging |
Het |
Atp1a1 |
A |
G |
3: 101,489,105 (GRCm39) |
I795T |
probably benign |
Het |
Ccn3 |
A |
G |
15: 54,612,585 (GRCm39) |
D198G |
probably damaging |
Het |
Cdhr4 |
T |
C |
9: 107,874,829 (GRCm39) |
L633P |
probably damaging |
Het |
Cep350 |
A |
G |
1: 155,804,114 (GRCm39) |
S990P |
probably damaging |
Het |
Cplx2 |
A |
G |
13: 54,526,789 (GRCm39) |
I66V |
possibly damaging |
Het |
Cx3cl1 |
T |
C |
8: 95,506,504 (GRCm39) |
S170P |
probably benign |
Het |
Cyth1 |
T |
C |
11: 118,059,908 (GRCm39) |
N353S |
possibly damaging |
Het |
Dapp1 |
T |
C |
3: 137,644,976 (GRCm39) |
|
probably null |
Het |
Dmwd |
G |
A |
7: 18,811,960 (GRCm39) |
|
probably benign |
Het |
Dsg1c |
A |
G |
18: 20,410,080 (GRCm39) |
H516R |
probably damaging |
Het |
Efemp2 |
T |
C |
19: 5,525,439 (GRCm39) |
C39R |
probably damaging |
Het |
Fnbp4 |
C |
G |
2: 90,608,001 (GRCm39) |
Q908E |
possibly damaging |
Het |
Foxred2 |
A |
G |
15: 77,840,212 (GRCm39) |
V26A |
probably damaging |
Het |
Gkap1 |
A |
G |
13: 58,411,010 (GRCm39) |
|
probably null |
Het |
Gstcd |
A |
C |
3: 132,790,440 (GRCm39) |
V109G |
probably damaging |
Het |
Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kcnj9 |
A |
T |
1: 172,150,724 (GRCm39) |
D296E |
probably benign |
Het |
Kctd18 |
T |
C |
1: 57,998,395 (GRCm39) |
Y68C |
probably damaging |
Het |
Kif21a |
A |
T |
15: 90,840,579 (GRCm39) |
M1179K |
probably benign |
Het |
Lrfn5 |
T |
C |
12: 61,886,410 (GRCm39) |
I66T |
possibly damaging |
Het |
Lrp12 |
A |
G |
15: 39,735,857 (GRCm39) |
S692P |
probably benign |
Het |
Lrrc10 |
A |
T |
10: 116,881,965 (GRCm39) |
N213I |
probably benign |
Het |
Nceh1 |
G |
A |
3: 27,295,677 (GRCm39) |
V313I |
probably benign |
Het |
Nkx6-3 |
T |
A |
8: 23,643,759 (GRCm39) |
H53Q |
probably damaging |
Het |
Ntmt2 |
A |
G |
1: 163,550,092 (GRCm39) |
I53T |
probably benign |
Het |
Or14j7 |
A |
G |
17: 38,235,252 (GRCm39) |
D265G |
probably benign |
Het |
Or2y16 |
A |
G |
11: 49,335,203 (GRCm39) |
H175R |
probably damaging |
Het |
Or4f53 |
T |
A |
2: 111,087,568 (GRCm39) |
V36E |
possibly damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,564 (GRCm39) |
N193K |
probably benign |
Het |
Oxct1 |
A |
T |
15: 4,083,251 (GRCm39) |
T157S |
possibly damaging |
Het |
Pcdhga3 |
A |
G |
18: 37,808,723 (GRCm39) |
E392G |
possibly damaging |
Het |
Polr1a |
T |
G |
6: 71,944,909 (GRCm39) |
Y1322D |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,496,136 (GRCm39) |
S776T |
probably damaging |
Het |
Ralgapb |
A |
G |
2: 158,307,832 (GRCm39) |
I1047V |
possibly damaging |
Het |
Sertad4 |
A |
T |
1: 192,529,130 (GRCm39) |
S229T |
possibly damaging |
Het |
Shank2 |
T |
A |
7: 143,963,373 (GRCm39) |
V327D |
possibly damaging |
Het |
Skint6 |
A |
T |
4: 112,722,865 (GRCm39) |
V904E |
possibly damaging |
Het |
Slfn8 |
A |
T |
11: 82,907,953 (GRCm39) |
Y197N |
probably damaging |
Het |
Smo |
T |
A |
6: 29,736,077 (GRCm39) |
L23Q |
unknown |
Het |
Snx29 |
T |
A |
16: 11,238,639 (GRCm39) |
M23K |
probably damaging |
Het |
Synrg |
T |
C |
11: 83,881,761 (GRCm39) |
S366P |
probably benign |
Het |
Tomm40 |
A |
G |
7: 19,447,592 (GRCm39) |
|
probably null |
Het |
Trappc1 |
A |
G |
11: 69,215,060 (GRCm39) |
Q26R |
probably benign |
Het |
Ttn |
T |
A |
2: 76,606,900 (GRCm39) |
|
probably null |
Het |
Usp25 |
T |
A |
16: 76,873,293 (GRCm39) |
D450E |
possibly damaging |
Het |
Zmynd19 |
T |
A |
2: 24,848,201 (GRCm39) |
Y132* |
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 |
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 |
|
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'- ACTGACAGGAGCATCATGGC -3'
(R):5'- GATCAGACAATTCTCCGAGCCC -3'
Sequencing Primer
(F):5'- AGCATCATGGCTCCCTTTTC -3'
(R):5'- AGCCCTCCTGGTTTGGCAG -3'
|
Posted On |
2017-03-13 |