Incidental Mutation 'R6015:Tpcn2'
| ID |
478563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpcn2
|
| Ensembl Gene |
ENSMUSG00000048677 |
| Gene Name |
two pore segment channel 2 |
| Synonyms |
D830047E22Rik |
| MMRRC Submission |
043254-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6015 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
144740261-144837748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144820588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 341
(V341A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058022]
[ENSMUST00000208148]
[ENSMUST00000208328]
[ENSMUST00000208841]
[ENSMUST00000209047]
|
| AlphaFold |
Q8BWC0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058022
AA Change: V341A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061308
Gene: ENSMUSG00000048677
AA Change: V341A
| 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 damaging
Transcript: ENSMUST00000208148
AA Change: V317A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208281
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208328
AA Change: V341A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208841
AA Change: V341A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209047
AA Change: V341A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
A |
C |
7: 51,224,525 (GRCm39) |
S480R |
probably benign |
Het |
| Aqr |
A |
G |
2: 114,005,646 (GRCm39) |
M1T |
probably null |
Het |
| Arhgef28 |
A |
G |
13: 98,211,530 (GRCm39) |
V151A |
possibly damaging |
Het |
| Atp6v1b2 |
T |
A |
8: 69,555,148 (GRCm39) |
I170N |
probably damaging |
Het |
| Atxn2 |
T |
A |
5: 121,949,055 (GRCm39) |
V817D |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,143,761 (GRCm39) |
I2950S |
probably damaging |
Het |
| Ces1h |
A |
G |
8: 94,083,691 (GRCm39) |
L417P |
unknown |
Het |
| Cimap3 |
T |
C |
3: 105,906,937 (GRCm39) |
D154G |
possibly damaging |
Het |
| Csf1r |
A |
G |
18: 61,242,784 (GRCm39) |
E49G |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 16,287,346 (GRCm39) |
S726P |
possibly damaging |
Het |
| Grik2 |
A |
T |
10: 49,399,959 (GRCm39) |
|
probably null |
Het |
| Il9r |
A |
G |
11: 32,142,674 (GRCm39) |
V287A |
probably benign |
Het |
| Inpp5b |
T |
C |
4: 124,692,143 (GRCm39) |
C909R |
possibly damaging |
Het |
| Kat7 |
G |
A |
11: 95,174,860 (GRCm39) |
H384Y |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,827,185 (GRCm39) |
S2272P |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,386,100 (GRCm39) |
H371R |
probably benign |
Het |
| Moxd2 |
A |
T |
6: 40,860,688 (GRCm39) |
Y310N |
probably damaging |
Het |
| Ntrk2 |
A |
T |
13: 59,208,209 (GRCm39) |
E685V |
probably damaging |
Het |
| Ogfr |
G |
T |
2: 180,236,467 (GRCm39) |
G351W |
probably damaging |
Het |
| Or52ac1 |
G |
T |
7: 104,245,915 (GRCm39) |
P158T |
probably damaging |
Het |
| Parp3 |
C |
T |
9: 106,351,481 (GRCm39) |
V207M |
possibly damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,486,146 (GRCm39) |
|
probably null |
Het |
| Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
| Pik3ap1 |
T |
A |
19: 41,316,640 (GRCm39) |
Y250F |
probably benign |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,206 (GRCm39) |
I188N |
probably damaging |
Het |
| Prmt7 |
T |
G |
8: 106,961,640 (GRCm39) |
|
probably benign |
Het |
| Psapl1 |
T |
C |
5: 36,361,594 (GRCm39) |
V62A |
probably benign |
Het |
| Relch |
T |
C |
1: 105,619,683 (GRCm39) |
L280S |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,090,462 (GRCm38) |
V129I |
probably benign |
Het |
| Sema4f |
A |
G |
6: 82,916,553 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
C |
A |
1: 106,928,337 (GRCm39) |
A319E |
probably benign |
Het |
| Sez6l2 |
A |
T |
7: 126,552,625 (GRCm39) |
S134C |
probably damaging |
Het |
| Slc4a10 |
T |
A |
2: 62,059,046 (GRCm39) |
H184Q |
probably benign |
Het |
| Slc9a9 |
G |
T |
9: 94,821,602 (GRCm39) |
A330S |
probably benign |
Het |
| Sord |
T |
C |
2: 122,087,424 (GRCm39) |
V176A |
probably damaging |
Het |
| Ssbp2 |
G |
T |
13: 91,817,862 (GRCm39) |
|
probably null |
Het |
| Stab2 |
G |
T |
10: 86,773,906 (GRCm39) |
N808K |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,296,819 (GRCm39) |
|
probably null |
Het |
| Unc13b |
C |
A |
4: 43,177,995 (GRCm39) |
S2941* |
probably null |
Het |
| Utrn |
T |
A |
10: 12,354,168 (GRCm39) |
H2806L |
possibly damaging |
Het |
| Vmn1r40 |
C |
A |
6: 89,691,588 (GRCm39) |
A135D |
probably damaging |
Het |
| Vmn1r68 |
C |
T |
7: 10,261,616 (GRCm39) |
V161M |
probably benign |
Het |
| Wiz |
T |
A |
17: 32,606,574 (GRCm39) |
I54F |
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 |
|
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'- CTTCATAGGACTGCACCTTCTG -3'
(R):5'- AGGTTCTGGTCCCTCTTTAAGG -3'
Sequencing Primer
(F):5'- CTTCTGTAGAAGGAAGGCCAG -3'
(R):5'- GACCTTAGATGGGGCCTATAAGGTAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation