Incidental Mutation 'R7594:Tpcn1'
| ID |
587617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpcn1
|
| Ensembl Gene |
ENSMUSG00000032741 |
| Gene Name |
two pore channel 1 |
| Synonyms |
5730403B01Rik |
| MMRRC Submission |
045670-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7594 (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 120694595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 158
(M158T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046426]
|
| AlphaFold |
Q9EQJ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046426
AA Change: M158T
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: M158T
| 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 |
|
| Meta Mutation Damage Score |
0.5222 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (62/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Acsm3 |
A |
G |
7: 119,384,213 (GRCm39) |
|
probably null |
Het |
| Acvr2a |
T |
A |
2: 48,784,749 (GRCm39) |
L345* |
probably null |
Het |
| App |
T |
C |
16: 84,876,890 (GRCm39) |
D167G |
unknown |
Het |
| Arhgef33 |
A |
G |
17: 80,677,734 (GRCm39) |
D427G |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,288,875 (GRCm39) |
S1675P |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,808,935 (GRCm39) |
Y985C |
|
Het |
| AW209491 |
A |
G |
13: 14,811,831 (GRCm39) |
D228G |
probably benign |
Het |
| Casc3 |
G |
A |
11: 98,712,311 (GRCm39) |
A117T |
probably benign |
Het |
| Cass4 |
C |
T |
2: 172,271,568 (GRCm39) |
P645S |
probably benign |
Het |
| Ccar2 |
A |
T |
14: 70,379,243 (GRCm39) |
Y553* |
probably null |
Het |
| Cox16 |
A |
T |
12: 81,521,352 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
A |
T |
19: 37,151,551 (GRCm39) |
V275E |
possibly damaging |
Het |
| Dido1 |
A |
G |
2: 180,316,905 (GRCm39) |
V634A |
probably benign |
Het |
| Dnajb1 |
G |
A |
8: 84,336,473 (GRCm39) |
S81N |
probably benign |
Het |
| Dst |
A |
G |
1: 34,252,094 (GRCm39) |
K2262E |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,422,136 (GRCm39) |
V237A |
probably benign |
Het |
| Fbxo31 |
T |
A |
8: 122,279,107 (GRCm39) |
D460V |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,830,885 (GRCm39) |
C33R |
probably damaging |
Het |
| Gabrg3 |
A |
T |
7: 56,632,443 (GRCm39) |
N168K |
possibly damaging |
Het |
| Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
| Gm10134 |
T |
C |
2: 28,396,372 (GRCm39) |
M89T |
unknown |
Het |
| Kif17 |
T |
C |
4: 138,005,236 (GRCm39) |
L267P |
probably damaging |
Het |
| Ksr2 |
C |
A |
5: 117,693,131 (GRCm39) |
T193N |
possibly damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,110,564 (GRCm39) |
L428P |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,696,359 (GRCm39) |
L1247F |
probably benign |
Het |
| Med24 |
T |
C |
11: 98,605,923 (GRCm39) |
Y323C |
probably damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,283,665 (GRCm39) |
V339A |
probably benign |
Het |
| Mtus2 |
G |
T |
5: 148,014,216 (GRCm39) |
R336S |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,556,358 (GRCm39) |
T3312A |
unknown |
Het |
| Nacad |
A |
G |
11: 6,552,457 (GRCm39) |
S245P |
probably damaging |
Het |
| Nacc1 |
T |
C |
8: 85,401,631 (GRCm39) |
D394G |
probably damaging |
Het |
| Nfatc2 |
A |
G |
2: 168,365,268 (GRCm39) |
V582A |
probably damaging |
Het |
| Nid2 |
T |
A |
14: 19,818,791 (GRCm39) |
D428E |
probably benign |
Het |
| Or10ag57 |
A |
G |
2: 87,218,613 (GRCm39) |
H188R |
probably damaging |
Het |
| Or4a80 |
T |
A |
2: 89,582,906 (GRCm39) |
T89S |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,880 (GRCm39) |
L3S |
probably benign |
Het |
| Osbpl5 |
A |
T |
7: 143,247,534 (GRCm39) |
L768Q |
probably benign |
Het |
| Plch2 |
C |
T |
4: 155,091,484 (GRCm39) |
V210I |
probably damaging |
Het |
| Plekhh1 |
C |
T |
12: 79,123,277 (GRCm39) |
T1153I |
possibly damaging |
Het |
| Ppp1r14c |
T |
C |
10: 3,316,670 (GRCm39) |
S2P |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,539,286 (GRCm39) |
I69N |
probably damaging |
Het |
| Psmd5 |
G |
T |
2: 34,750,741 (GRCm39) |
H239Q |
probably benign |
Het |
| Ptcd2 |
C |
A |
13: 99,456,790 (GRCm39) |
A345S |
possibly damaging |
Het |
| Sap30l |
G |
A |
11: 57,700,947 (GRCm39) |
|
probably null |
Het |
| Sec14l2 |
A |
G |
11: 4,061,213 (GRCm39) |
Y83H |
probably damaging |
Het |
| Slc2a9 |
A |
G |
5: 38,508,634 (GRCm39) |
I470T |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,165,190 (GRCm39) |
|
probably null |
Het |
| Tg |
T |
A |
15: 66,601,432 (GRCm39) |
D1766E |
probably benign |
Het |
| Tlr12 |
T |
C |
4: 128,511,473 (GRCm39) |
E259G |
probably benign |
Het |
| Tlr6 |
T |
C |
5: 65,110,594 (GRCm39) |
Y771C |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,508 (GRCm39) |
V670E |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,428,587 (GRCm38) |
T1522A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,557,186 (GRCm39) |
I29940V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,581,698 (GRCm39) |
T23065I |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,173,779 (GRCm39) |
S20G |
probably benign |
Het |
| Uts2r |
G |
T |
11: 121,052,191 (GRCm39) |
V352F |
possibly damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,342 (GRCm39) |
M202K |
possibly damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,580,635 (GRCm39) |
V524A |
probably benign |
Het |
| Zc3h12d |
C |
A |
10: 7,738,382 (GRCm39) |
D229E |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,810,311 (GRCm39) |
D116G |
probably damaging |
Het |
| Zfp971 |
A |
G |
2: 177,675,793 (GRCm39) |
E464G |
possibly 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 |
|
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 |
|
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'- ATCTCACTGGGCTACACTCC -3'
(R):5'- TCTGTCTATAAAGCCTTGTCTGG -3'
Sequencing Primer
(F):5'- GGGCTACACTCCCAAGCATACG -3'
(R):5'- CCTTGTCTGGCATCTTGAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation