Incidental Mutation 'R1441:Tpcn2'
ID |
161010 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpcn2
|
Ensembl Gene |
ENSMUSG00000048677 |
Gene Name |
two pore segment channel 2 |
Synonyms |
D830047E22Rik |
MMRRC Submission |
039496-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1441 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
144740261-144837748 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 144813871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 475
(S475L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146736
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058022]
[ENSMUST00000208148]
[ENSMUST00000208328]
[ENSMUST00000208841]
[ENSMUST00000209047]
|
AlphaFold |
Q8BWC0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058022
AA Change: S499L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000061308 Gene: ENSMUSG00000048677 AA Change: S499L
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
AA Change: S475L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208281
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208328
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208841
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208867
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209047
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
A |
T |
8: 114,481,194 (GRCm39) |
|
probably null |
Het |
Ankrd16 |
T |
C |
2: 11,783,557 (GRCm39) |
L53P |
probably damaging |
Het |
Arsk |
A |
T |
13: 76,223,083 (GRCm39) |
N171K |
probably benign |
Het |
Brwd1 |
A |
C |
16: 95,867,351 (GRCm39) |
C161W |
probably damaging |
Het |
Card9 |
T |
C |
2: 26,249,402 (GRCm39) |
N53S |
probably benign |
Het |
Ccdc13 |
A |
T |
9: 121,642,515 (GRCm39) |
V403E |
probably benign |
Het |
Ccdc83 |
T |
A |
7: 89,893,351 (GRCm39) |
E135D |
probably damaging |
Het |
Ccser1 |
C |
T |
6: 62,357,016 (GRCm39) |
T818I |
probably benign |
Het |
Cd44 |
T |
A |
2: 102,676,763 (GRCm39) |
T301S |
probably damaging |
Het |
Eepd1 |
G |
A |
9: 25,394,499 (GRCm39) |
M254I |
probably benign |
Het |
Ephb4 |
C |
T |
5: 137,359,509 (GRCm39) |
R360C |
probably damaging |
Het |
Fam149a |
G |
T |
8: 45,808,684 (GRCm39) |
Q150K |
probably damaging |
Het |
G6pc2 |
G |
A |
2: 69,051,198 (GRCm39) |
C97Y |
probably damaging |
Het |
Gcsam |
T |
A |
16: 45,433,401 (GRCm39) |
M15K |
probably benign |
Het |
Impdh2 |
C |
A |
9: 108,441,975 (GRCm39) |
T201K |
probably benign |
Het |
Kdm2b |
C |
T |
5: 123,070,943 (GRCm39) |
E379K |
probably benign |
Het |
Mcm3ap |
T |
C |
10: 76,307,000 (GRCm39) |
V371A |
probably benign |
Het |
Mink1 |
T |
A |
11: 70,497,940 (GRCm39) |
N514K |
possibly damaging |
Het |
Mmp12 |
C |
T |
9: 7,354,787 (GRCm39) |
P330L |
probably damaging |
Het |
Mroh2a |
A |
G |
1: 88,169,353 (GRCm39) |
D676G |
possibly damaging |
Het |
Myo1a |
C |
T |
10: 127,555,148 (GRCm39) |
P838L |
probably benign |
Het |
Naip5 |
T |
C |
13: 100,356,225 (GRCm39) |
H1130R |
possibly damaging |
Het |
Ninl |
C |
A |
2: 150,813,044 (GRCm39) |
G204V |
probably benign |
Het |
Or12k5 |
C |
A |
2: 36,895,131 (GRCm39) |
R165L |
possibly damaging |
Het |
Or2a54 |
T |
C |
6: 43,092,880 (GRCm39) |
V68A |
probably benign |
Het |
Or4k51 |
T |
C |
2: 111,585,347 (GRCm39) |
F251S |
probably damaging |
Het |
Or5ac20 |
G |
A |
16: 59,104,228 (GRCm39) |
L211F |
probably benign |
Het |
Or5an11 |
T |
A |
19: 12,245,750 (GRCm39) |
L52* |
probably null |
Het |
Or8c15 |
T |
C |
9: 38,120,777 (GRCm39) |
C141R |
probably damaging |
Het |
Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
Pip4p2 |
A |
T |
4: 14,892,477 (GRCm39) |
I114L |
possibly damaging |
Het |
Ptpn22 |
G |
T |
3: 103,781,563 (GRCm39) |
W114L |
probably damaging |
Het |
Rasa1 |
C |
T |
13: 85,400,540 (GRCm39) |
|
probably null |
Het |
Rbks |
C |
T |
5: 31,817,341 (GRCm39) |
V143I |
probably benign |
Het |
Rbm19 |
T |
C |
5: 120,269,241 (GRCm39) |
F515L |
probably damaging |
Het |
Ror1 |
A |
G |
4: 100,298,180 (GRCm39) |
T518A |
probably benign |
Het |
Rpusd4 |
C |
A |
9: 35,184,065 (GRCm39) |
A240E |
probably damaging |
Het |
Rufy3 |
T |
C |
5: 88,780,374 (GRCm39) |
L374P |
probably damaging |
Het |
Sf3a3 |
T |
C |
4: 124,618,935 (GRCm39) |
S299P |
probably damaging |
Het |
Slc7a12 |
T |
G |
3: 14,562,414 (GRCm39) |
S264A |
possibly damaging |
Het |
Tasor |
T |
A |
14: 27,186,217 (GRCm39) |
C805* |
probably null |
Het |
Tm9sf1 |
T |
C |
14: 55,873,782 (GRCm39) |
Y572C |
probably damaging |
Het |
Trim17 |
A |
G |
11: 58,856,018 (GRCm39) |
D25G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,572,121 (GRCm39) |
K26257N |
probably damaging |
Het |
Txndc11 |
C |
A |
16: 10,952,414 (GRCm39) |
|
probably benign |
Het |
Utrn |
A |
G |
10: 12,559,039 (GRCm39) |
S1405P |
probably damaging |
Het |
Vmn2r58 |
G |
A |
7: 41,486,864 (GRCm39) |
T677I |
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 |
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 |
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'- TCACTGCAAAAGGGACTGTCTGAAG -3'
(R):5'- TGACATTGTGAGAGCCAATACGCC -3'
Sequencing Primer
(F):5'- ACAGTCTAACAGCCTTACTGG -3'
(R):5'- TCCTGAAACCAGAGTATCGTG -3'
|
Posted On |
2014-03-14 |