Incidental Mutation 'R7854:Tpcn1'
ID |
607121 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpcn1
|
Ensembl Gene |
ENSMUSG00000032741 |
Gene Name |
two pore channel 1 |
Synonyms |
5730403B01Rik |
MMRRC Submission |
045907-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7854 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
120672222-120726731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120687653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 364
(F364L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042188
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046426]
|
AlphaFold |
Q9EQJ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046426
AA Change: F364L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042188 Gene: ENSMUSG00000032741 AA Change: F364L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (51/52) |
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 |
Adgrv1 |
T |
A |
13: 81,741,207 (GRCm39) |
I86F |
probably damaging |
Het |
Als2cl |
A |
G |
9: 110,727,564 (GRCm39) |
*953W |
probably null |
Het |
Ap1g2 |
A |
G |
14: 55,343,390 (GRCm39) |
F66L |
probably damaging |
Het |
Aqp12 |
T |
G |
1: 92,934,176 (GRCm39) |
C18G |
probably damaging |
Het |
Atp9a |
T |
C |
2: 168,490,523 (GRCm39) |
I826V |
probably benign |
Het |
C1ra |
A |
G |
6: 124,494,700 (GRCm39) |
Q321R |
probably benign |
Het |
Calcoco1 |
T |
C |
15: 102,627,991 (GRCm39) |
I48V |
possibly damaging |
Het |
Cep63 |
A |
T |
9: 102,480,197 (GRCm39) |
S269R |
probably damaging |
Het |
Chchd7 |
T |
C |
4: 3,943,422 (GRCm39) |
V63A |
possibly damaging |
Het |
Dennd5b |
T |
C |
6: 148,969,964 (GRCm39) |
D163G |
probably benign |
Het |
Dpep2 |
T |
C |
8: 106,716,160 (GRCm39) |
D251G |
|
Het |
Ercc6 |
T |
C |
14: 32,288,249 (GRCm39) |
L807P |
probably damaging |
Het |
Fads6 |
A |
T |
11: 115,188,222 (GRCm39) |
D27E |
probably benign |
Het |
Gfer |
C |
A |
17: 24,913,259 (GRCm39) |
D198Y |
probably damaging |
Het |
Glce |
A |
T |
9: 61,977,773 (GRCm39) |
I37N |
probably benign |
Het |
Gps2 |
T |
C |
11: 69,806,030 (GRCm39) |
L128P |
probably damaging |
Het |
Gramd2b |
A |
G |
18: 56,611,926 (GRCm39) |
T130A |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,467,631 (GRCm39) |
Y2527N |
probably benign |
Het |
Itpr1 |
A |
G |
6: 108,364,330 (GRCm39) |
D820G |
probably damaging |
Het |
Itsn2 |
T |
C |
12: 4,751,276 (GRCm39) |
Y1289H |
probably damaging |
Het |
Kcnh6 |
A |
T |
11: 105,908,172 (GRCm39) |
I263F |
probably damaging |
Het |
Kcns2 |
A |
T |
15: 34,839,917 (GRCm39) |
M427L |
probably benign |
Het |
Mptx1 |
A |
T |
1: 174,159,966 (GRCm39) |
M91L |
probably benign |
Het |
Ms4a20 |
T |
A |
19: 11,089,741 (GRCm39) |
Y48F |
probably benign |
Het |
Mtx2 |
A |
G |
2: 74,699,231 (GRCm39) |
Y128C |
probably damaging |
Het |
Myh9 |
A |
T |
15: 77,675,953 (GRCm39) |
D244E |
probably benign |
Het |
Ndufs2 |
T |
C |
1: 171,066,938 (GRCm39) |
D140G |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,981,538 (GRCm39) |
T1827A |
probably benign |
Het |
Ogn |
A |
T |
13: 49,774,514 (GRCm39) |
Y219F |
possibly damaging |
Het |
Or1ak2 |
A |
G |
2: 36,828,036 (GRCm39) |
R302G |
probably benign |
Het |
Or51f2 |
C |
T |
7: 102,526,992 (GRCm39) |
R222* |
probably null |
Het |
Parp4 |
A |
G |
14: 56,896,805 (GRCm39) |
E1943G |
unknown |
Het |
Pex19 |
T |
G |
1: 171,954,417 (GRCm39) |
|
probably null |
Het |
Prss53 |
T |
C |
7: 127,488,117 (GRCm39) |
N166S |
probably benign |
Het |
Prx |
T |
A |
7: 27,216,066 (GRCm39) |
V328E |
probably damaging |
Het |
Pstpip2 |
C |
T |
18: 77,962,004 (GRCm39) |
T258I |
probably benign |
Het |
Rasgrp4 |
C |
T |
7: 28,850,035 (GRCm39) |
P58L |
unknown |
Het |
Ros1 |
T |
C |
10: 52,004,563 (GRCm39) |
Y1019C |
probably damaging |
Het |
Rptor |
T |
C |
11: 119,748,779 (GRCm39) |
M787T |
probably benign |
Het |
Rsf1 |
GGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCGGCGGC |
7: 97,229,131 (GRCm39) |
|
probably benign |
Het |
Spef2 |
T |
A |
15: 9,596,730 (GRCm39) |
R1440W |
possibly damaging |
Het |
Spta1 |
T |
A |
1: 174,046,396 (GRCm39) |
|
probably null |
Het |
Sptbn4 |
T |
C |
7: 27,061,835 (GRCm39) |
I2335V |
probably benign |
Het |
Srp68 |
G |
C |
11: 116,144,909 (GRCm39) |
|
probably null |
Het |
Taar1 |
A |
G |
10: 23,796,680 (GRCm39) |
D126G |
probably benign |
Het |
Tdrd9 |
A |
G |
12: 112,013,395 (GRCm39) |
T1210A |
probably benign |
Het |
Tle5 |
A |
G |
10: 81,401,481 (GRCm39) |
H183R |
probably damaging |
Het |
Trav2 |
A |
T |
14: 52,805,238 (GRCm39) |
K20* |
probably null |
Het |
Trpa1 |
T |
C |
1: 14,951,918 (GRCm39) |
E927G |
probably benign |
Het |
Tyk2 |
A |
T |
9: 21,026,776 (GRCm39) |
D637E |
probably benign |
Het |
Vmn1r200 |
T |
C |
13: 22,580,009 (GRCm39) |
F271L |
probably benign |
Het |
Vmn1r231 |
T |
A |
17: 21,110,894 (GRCm39) |
D7V |
probably damaging |
Het |
Wwc2 |
G |
A |
8: 48,321,512 (GRCm39) |
T534I |
unknown |
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 |
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'- ACGTGGTACCCAACTCTCTC -3'
(R):5'- CAGGGAGGGACTTCATTCTC -3'
Sequencing Primer
(F):5'- GATTTGCACTCAGGACCTTCAGAAG -3'
(R):5'- GCCTATGGGAGAAATGCAG -3'
|
Posted On |
2019-12-20 |