Incidental Mutation 'R7942:Tpcn2'
| ID |
649107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpcn2
|
| Ensembl Gene |
ENSMUSG00000048677 |
| Gene Name |
two pore segment channel 2 |
| Synonyms |
D830047E22Rik |
| MMRRC Submission |
045988-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7942 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
144740261-144837748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 144810928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 590
(V590M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058022]
[ENSMUST00000208148]
[ENSMUST00000208328]
[ENSMUST00000208841]
[ENSMUST00000209047]
|
| AlphaFold |
Q8BWC0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058022
AA Change: V590M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061308
Gene: ENSMUSG00000048677
AA Change: V590M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
67 |
302 |
5.1e-24 |
PFAM |
|
Pfam:Ion_trans
|
415 |
683 |
1.5e-29 |
PFAM |
|
low complexity region
|
709 |
729 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208841
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209047
|
| Meta Mutation Damage Score |
0.1725 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit altered beta cell calcium ion physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,087,027 (GRCm39) |
I565T |
probably damaging |
Het |
| Adamts8 |
G |
A |
9: 30,864,778 (GRCm39) |
C423Y |
probably damaging |
Het |
| Adamts8 |
G |
A |
9: 30,870,209 (GRCm39) |
|
probably null |
Het |
| Ahctf1 |
A |
C |
1: 179,613,660 (GRCm39) |
V490G |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,261,218 (GRCm39) |
T478A |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Ano9 |
T |
C |
7: 140,683,989 (GRCm39) |
S559G |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,376,590 (GRCm39) |
T924A |
probably damaging |
Het |
| Atp13a1 |
A |
G |
8: 70,259,870 (GRCm39) |
E1126G |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,900,382 (GRCm39) |
V617A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cldnd1 |
A |
T |
16: 58,550,078 (GRCm39) |
N87I |
possibly damaging |
Het |
| Enpp2 |
A |
T |
15: 54,709,275 (GRCm39) |
V784E |
probably damaging |
Het |
| Eps8 |
T |
A |
6: 137,507,575 (GRCm39) |
Y51F |
possibly damaging |
Het |
| Fam184b |
T |
C |
5: 45,741,595 (GRCm39) |
K212R |
probably benign |
Het |
| Fbn1 |
A |
C |
2: 125,254,706 (GRCm39) |
C186G |
possibly damaging |
Het |
| Fsip1 |
G |
A |
2: 117,967,092 (GRCm39) |
T411I |
probably benign |
Het |
| Glyr1 |
T |
C |
16: 4,836,785 (GRCm39) |
T460A |
probably benign |
Het |
| Gm19410 |
G |
A |
8: 36,238,940 (GRCm39) |
G70R |
probably damaging |
Het |
| Gna15 |
G |
A |
10: 81,359,745 (GRCm39) |
T15I |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,571,570 (GRCm39) |
C1198R |
probably damaging |
Het |
| Hoxd1 |
A |
G |
2: 74,594,504 (GRCm39) |
Y253C |
probably damaging |
Het |
| Il17re |
G |
T |
6: 113,443,111 (GRCm39) |
Q316H |
probably damaging |
Het |
| Jakmip1 |
C |
A |
5: 37,331,182 (GRCm39) |
P621T |
probably benign |
Het |
| Krt71 |
T |
C |
15: 101,643,894 (GRCm39) |
Y448C |
probably damaging |
Het |
| Lgals8 |
A |
G |
13: 12,468,137 (GRCm39) |
|
probably null |
Het |
| Marchf11 |
A |
G |
15: 26,409,505 (GRCm39) |
*401W |
probably null |
Het |
| Mctp1 |
A |
T |
13: 76,789,829 (GRCm39) |
|
probably null |
Het |
| Mms19 |
C |
A |
19: 41,944,400 (GRCm39) |
V310F |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,392,674 (GRCm39) |
F3296I |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,146,422 (GRCm39) |
I121N |
probably damaging |
Het |
| Nr0b2 |
T |
C |
4: 133,280,847 (GRCm39) |
S38P |
probably benign |
Het |
| Nudt16l1 |
T |
A |
16: 4,757,243 (GRCm39) |
M52K |
probably benign |
Het |
| Or3a4 |
A |
G |
11: 73,945,054 (GRCm39) |
I177T |
probably damaging |
Het |
| Or8k32 |
T |
C |
2: 86,368,566 (GRCm39) |
N229S |
probably benign |
Het |
| Polr3gl |
A |
T |
3: 96,489,552 (GRCm39) |
|
probably null |
Het |
| Ptch2 |
T |
A |
4: 116,963,198 (GRCm39) |
F228L |
probably benign |
Het |
| Slc35d1 |
A |
G |
4: 103,070,360 (GRCm39) |
|
probably null |
Het |
| Slc41a1 |
G |
A |
1: 131,768,635 (GRCm39) |
V198I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,583,709 (GRCm39) |
D527G |
possibly damaging |
Het |
| Spaca7b |
A |
G |
8: 11,705,615 (GRCm39) |
I164T |
unknown |
Het |
| Spag16 |
G |
T |
1: 69,866,247 (GRCm39) |
A29S |
probably benign |
Het |
| Speer4f2 |
T |
A |
5: 17,582,630 (GRCm39) |
D284E |
unknown |
Het |
| Sspo |
A |
G |
6: 48,465,434 (GRCm39) |
|
probably null |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,517 (GRCm39) |
K89R |
possibly damaging |
Het |
| Tek |
C |
T |
4: 94,740,111 (GRCm39) |
|
probably null |
Het |
| Tet3 |
C |
T |
6: 83,353,956 (GRCm39) |
V902M |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,149,499 (GRCm39) |
V357A |
probably benign |
Het |
| Tspan18 |
A |
G |
2: 93,041,203 (GRCm39) |
V133A |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,613,322 (GRCm39) |
W305R |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,529 (GRCm39) |
L314I |
possibly damaging |
Het |
| Wdsub1 |
G |
A |
2: 59,707,061 (GRCm39) |
A178V |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,577,754 (GRCm39) |
S1120P |
probably benign |
Het |
| Zfp57 |
T |
C |
17: 37,320,566 (GRCm39) |
F140S |
probably damaging |
Het |
|
| Other mutations in Tpcn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01472:Tpcn2
|
APN |
7 |
144,821,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02112:Tpcn2
|
APN |
7 |
144,810,529 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02646:Tpcn2
|
APN |
7 |
144,812,311 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0385:Tpcn2
|
UTSW |
7 |
144,830,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1441:Tpcn2
|
UTSW |
7 |
144,813,871 (GRCm39) |
missense |
probably benign |
|
|
R1498:Tpcn2
|
UTSW |
7 |
144,822,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1598:Tpcn2
|
UTSW |
7 |
144,830,957 (GRCm39) |
nonsense |
probably null |
|
|
R2127:Tpcn2
|
UTSW |
7 |
144,827,712 (GRCm39) |
splice site |
probably benign |
|
|
R2354:Tpcn2
|
UTSW |
7 |
144,810,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3747:Tpcn2
|
UTSW |
7 |
144,809,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3748:Tpcn2
|
UTSW |
7 |
144,809,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3749:Tpcn2
|
UTSW |
7 |
144,809,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4775:Tpcn2
|
UTSW |
7 |
144,821,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:Tpcn2
|
UTSW |
7 |
144,826,088 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4931:Tpcn2
|
UTSW |
7 |
144,821,046 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4979:Tpcn2
|
UTSW |
7 |
144,813,833 (GRCm39) |
missense |
probably benign |
|
|
R5185:Tpcn2
|
UTSW |
7 |
144,809,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5418:Tpcn2
|
UTSW |
7 |
144,832,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Tpcn2
|
UTSW |
7 |
144,809,209 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5623:Tpcn2
|
UTSW |
7 |
144,821,071 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5716:Tpcn2
|
UTSW |
7 |
144,811,550 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5910:Tpcn2
|
UTSW |
7 |
144,814,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5927:Tpcn2
|
UTSW |
7 |
144,832,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6015:Tpcn2
|
UTSW |
7 |
144,820,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Tpcn2
|
UTSW |
7 |
144,822,606 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6036:Tpcn2
|
UTSW |
7 |
144,822,606 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6299:Tpcn2
|
UTSW |
7 |
144,815,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6337:Tpcn2
|
UTSW |
7 |
144,833,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6382:Tpcn2
|
UTSW |
7 |
144,823,486 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6724:Tpcn2
|
UTSW |
7 |
144,810,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6995:Tpcn2
|
UTSW |
7 |
144,810,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7494:Tpcn2
|
UTSW |
7 |
144,832,586 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8052:Tpcn2
|
UTSW |
7 |
144,814,683 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8320:Tpcn2
|
UTSW |
7 |
144,820,359 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9131:Tpcn2
|
UTSW |
7 |
144,814,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Y4335:Tpcn2
|
UTSW |
7 |
144,810,972 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTATATGTGTGACCCAAGGG -3'
(R):5'- GCCTCTTCAGACTCCATGTTTAAG -3'
Sequencing Primer
(F):5'- CGAAACTCTGGGCTCCAATC -3'
(R):5'- GTTTAAGGCATAAGTGTCCCTAAGCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation