Incidental Mutation 'R8320:Tpcn2'
| ID |
641911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpcn2
|
| Ensembl Gene |
ENSMUSG00000048677 |
| Gene Name |
two pore segment channel 2 |
| Synonyms |
D830047E22Rik |
| MMRRC Submission |
067722-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8320 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
144740261-144837748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 144820359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 373
(R373H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058022]
[ENSMUST00000208148]
[ENSMUST00000208328]
[ENSMUST00000208841]
[ENSMUST00000209047]
|
| AlphaFold |
Q8BWC0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058022
AA Change: R373H
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000061308
Gene: ENSMUSG00000048677
AA Change: R373H
| 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: R349H
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208328
AA Change: R373H
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208841
AA Change: R373H
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209047
AA Change: R373H
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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 |
|---|
| Asb10 |
A |
G |
5: 24,742,626 (GRCm39) |
|
probably null |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Clec3a |
T |
C |
8: 115,152,369 (GRCm39) |
V125A |
probably benign |
Het |
| Clspn |
A |
G |
4: 126,457,743 (GRCm39) |
D258G |
possibly damaging |
Het |
| Cnn3 |
T |
G |
3: 121,243,635 (GRCm39) |
L32R |
probably damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,374,466 (GRCm39) |
F993L |
possibly damaging |
Het |
| Cobl |
A |
G |
11: 12,217,001 (GRCm39) |
S496P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,291,043 (GRCm39) |
V2469A |
probably benign |
Het |
| Egfr |
T |
C |
11: 16,841,251 (GRCm39) |
F714S |
probably damaging |
Het |
| Erap1 |
G |
C |
13: 74,814,668 (GRCm39) |
E465Q |
probably benign |
Het |
| Ercc6 |
T |
C |
14: 32,242,972 (GRCm39) |
V204A |
probably benign |
Het |
| Fbln2 |
C |
T |
6: 91,234,749 (GRCm39) |
T689I |
possibly damaging |
Het |
| Fbxw13 |
G |
T |
9: 109,012,134 (GRCm39) |
T311K |
probably benign |
Het |
| Foxj2 |
T |
A |
6: 122,810,649 (GRCm39) |
S210T |
probably benign |
Het |
| Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
| Grid2 |
T |
C |
6: 63,233,917 (GRCm39) |
I26T |
probably benign |
Het |
| Gzmd |
A |
G |
14: 56,367,190 (GRCm39) |
I234T |
probably benign |
Het |
| Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
| Kif26b |
T |
C |
1: 178,711,641 (GRCm39) |
|
probably null |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Klra10 |
A |
G |
6: 130,246,211 (GRCm39) |
C255R |
probably damaging |
Het |
| Lgi4 |
T |
C |
7: 30,768,366 (GRCm39) |
V455A |
probably benign |
Het |
| Mucl3 |
T |
C |
17: 35,954,530 (GRCm39) |
T11A |
probably benign |
Het |
| Neb |
C |
A |
2: 52,186,343 (GRCm39) |
V910L |
probably benign |
Het |
| Pigg |
G |
A |
5: 108,495,717 (GRCm39) |
R918H |
probably benign |
Het |
| Poln |
A |
G |
5: 34,307,171 (GRCm39) |
V10A |
possibly damaging |
Het |
| Polr1a |
T |
A |
6: 71,918,368 (GRCm39) |
M642K |
probably damaging |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,460,379 (GRCm39) |
Y167* |
probably null |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Sars2 |
C |
T |
7: 28,446,293 (GRCm39) |
T174I |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,480,560 (GRCm39) |
V398A |
possibly damaging |
Het |
| Slc6a2 |
C |
T |
8: 93,719,476 (GRCm39) |
T397I |
probably benign |
Het |
| Smarca4 |
G |
T |
9: 21,588,798 (GRCm39) |
R1200L |
probably benign |
Het |
| Stx7 |
G |
T |
10: 24,055,046 (GRCm39) |
A63S |
probably damaging |
Het |
| Sval3 |
G |
A |
6: 41,949,458 (GRCm39) |
V99I |
probably benign |
Het |
| Syna |
A |
G |
5: 134,588,574 (GRCm39) |
I125T |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,150,604 (GRCm39) |
S1827P |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,916,749 (GRCm39) |
V33A |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,918,541 (GRCm39) |
D1511G |
possibly damaging |
Het |
| Ttc3 |
C |
A |
16: 94,219,535 (GRCm39) |
R487S |
probably damaging |
Het |
| Tubb3 |
T |
C |
8: 124,147,594 (GRCm39) |
S176P |
possibly damaging |
Het |
| Zfp189 |
C |
G |
4: 49,530,180 (GRCm39) |
Q428E |
probably benign |
Het |
| Zscan4d |
C |
T |
7: 10,799,942 (GRCm39) |
V316M |
probably benign |
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 |
|
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 |
|
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'- AGGATTCCCATTGCCAATCCC -3'
(R):5'- CAGTGCTTCAGAAAACGCAG -3'
Sequencing Primer
(F):5'- CATTGCCAATCCCAGGGAC -3'
(R):5'- TGCTTCAGAAAACGCAGCTGAAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation