Incidental Mutation 'R7494:Tpcn2'
ID |
580989 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpcn2
|
Ensembl Gene |
ENSMUSG00000048677 |
Gene Name |
two pore segment channel 2 |
Synonyms |
D830047E22Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7494 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
144740261-144837748 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 144832586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 90
(T90I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058022]
[ENSMUST00000208148]
[ENSMUST00000208328]
[ENSMUST00000208841]
[ENSMUST00000209047]
[ENSMUST00000209156]
|
AlphaFold |
Q8BWC0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058022
AA Change: T90I
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000061308 Gene: ENSMUSG00000048677 AA Change: T90I
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 |
possibly damaging
Transcript: ENSMUST00000208148
AA Change: T66I
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208328
AA Change: T90I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208841
AA Change: T90I
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209047
AA Change: T90I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209156
AA Change: T90I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
G |
A |
11: 110,099,571 (GRCm39) |
T992I |
possibly damaging |
Het |
Adamts10 |
T |
A |
17: 33,768,352 (GRCm39) |
C841* |
probably null |
Het |
AI661453 |
C |
T |
17: 47,779,105 (GRCm39) |
P944S |
unknown |
Het |
Als2 |
G |
A |
1: 59,222,325 (GRCm39) |
|
probably null |
Het |
Anapc2 |
A |
G |
2: 25,166,376 (GRCm39) |
E381G |
possibly damaging |
Het |
Ank3 |
T |
C |
10: 69,824,756 (GRCm39) |
Y1142H |
|
Het |
Apip |
A |
T |
2: 102,922,896 (GRCm39) |
N238I |
probably benign |
Het |
Cblc |
A |
T |
7: 19,526,737 (GRCm39) |
V165D |
possibly damaging |
Het |
Cep295nl |
T |
A |
11: 118,224,758 (GRCm39) |
M29L |
probably benign |
Het |
Clec12a |
A |
G |
6: 129,330,362 (GRCm39) |
I47V |
possibly damaging |
Het |
Dpp9 |
T |
C |
17: 56,507,619 (GRCm39) |
Y350C |
probably damaging |
Het |
Enpp2 |
C |
T |
15: 54,773,554 (GRCm39) |
G56R |
probably damaging |
Het |
Epsti1 |
G |
T |
14: 78,166,194 (GRCm39) |
E82D |
probably benign |
Het |
Eri2 |
C |
A |
7: 119,385,304 (GRCm39) |
C399F |
probably damaging |
Het |
Ern1 |
T |
C |
11: 106,298,361 (GRCm39) |
T672A |
probably damaging |
Het |
Fbxo21 |
T |
A |
5: 118,138,388 (GRCm39) |
C445S |
possibly damaging |
Het |
Folh1 |
G |
T |
7: 86,368,907 (GRCm39) |
T740K |
probably damaging |
Het |
Gapt |
A |
G |
13: 110,490,262 (GRCm39) |
Y134H |
probably damaging |
Het |
Gm19410 |
T |
C |
8: 36,262,684 (GRCm39) |
S874P |
probably damaging |
Het |
Gm2431 |
G |
A |
7: 141,811,547 (GRCm39) |
P119L |
unknown |
Het |
Gzmc |
G |
A |
14: 56,469,785 (GRCm39) |
Q172* |
probably null |
Het |
Hoxa1 |
C |
A |
6: 52,134,571 (GRCm39) |
V211F |
probably damaging |
Het |
Hyou1 |
G |
T |
9: 44,300,706 (GRCm39) |
R925L |
probably benign |
Het |
Ift70a1 |
A |
C |
2: 75,810,242 (GRCm39) |
F614V |
probably damaging |
Het |
Ilvbl |
A |
G |
10: 78,414,857 (GRCm39) |
Y240C |
possibly damaging |
Het |
Lama1 |
T |
A |
17: 68,118,441 (GRCm39) |
F2551Y |
|
Het |
Lrrtm3 |
A |
G |
10: 63,924,958 (GRCm39) |
Y70H |
probably damaging |
Het |
Naa38 |
T |
A |
11: 69,287,126 (GRCm39) |
C69S |
probably damaging |
Het |
Or12e7 |
T |
A |
2: 87,287,912 (GRCm39) |
N134K |
probably damaging |
Het |
Or2t46 |
T |
C |
11: 58,472,038 (GRCm39) |
S123P |
probably damaging |
Het |
Or8k25 |
A |
T |
2: 86,243,592 (GRCm39) |
I268N |
probably benign |
Het |
Panx3 |
A |
G |
9: 37,572,608 (GRCm39) |
L314P |
probably damaging |
Het |
Polr2f |
T |
C |
15: 79,028,865 (GRCm39) |
|
probably null |
Het |
Prkcd |
C |
A |
14: 30,331,150 (GRCm39) |
R75L |
probably benign |
Het |
Psap |
A |
C |
10: 60,135,275 (GRCm39) |
L313F |
probably benign |
Het |
Psen1 |
T |
A |
12: 83,775,017 (GRCm39) |
C263S |
probably benign |
Het |
Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
Pura |
T |
A |
18: 36,420,942 (GRCm39) |
M243K |
probably damaging |
Het |
Sec16b |
T |
C |
1: 157,388,369 (GRCm39) |
S579P |
probably benign |
Het |
Septin1 |
T |
A |
7: 126,814,122 (GRCm39) |
E338V |
probably damaging |
Het |
Sgms1 |
A |
G |
19: 32,107,091 (GRCm39) |
F255L |
probably benign |
Het |
Slc4a2 |
A |
G |
5: 24,637,862 (GRCm39) |
T353A |
possibly damaging |
Het |
Smg6 |
T |
C |
11: 74,820,449 (GRCm39) |
V240A |
probably benign |
Het |
Sntg2 |
T |
G |
12: 30,279,633 (GRCm39) |
D340A |
possibly damaging |
Het |
Sun1 |
C |
T |
5: 139,221,475 (GRCm39) |
P553S |
probably benign |
Het |
Tas2r140 |
T |
C |
6: 40,468,254 (GRCm39) |
V28A |
probably damaging |
Het |
Tfcp2l1 |
T |
C |
1: 118,592,686 (GRCm39) |
F323S |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,666,284 (GRCm39) |
Y269H |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,720,321 (GRCm39) |
Y6968* |
probably null |
Het |
Vmn2r44 |
A |
T |
7: 8,386,122 (GRCm39) |
L39* |
probably null |
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 |
R7942:Tpcn2
|
UTSW |
7 |
144,810,928 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- CTTTTGTTCAAAGCGCCAAAG -3'
(R):5'- GCTAGGAAGTGCTAGCTTCTGC -3'
Sequencing Primer
(F):5'- AACGAAAGCTCTGGCATCC -3'
(R):5'- GAAGTGCTAGCTTCTGCCTTCC -3'
|
Posted On |
2019-10-17 |