Incidental Mutation 'R6036:Tpcn2'
ID 479212
Institutional Source Beutler Lab
Gene Symbol Tpcn2
Ensembl Gene ENSMUSG00000048677
Gene Name two pore segment channel 2
Synonyms D830047E22Rik
MMRRC Submission 043257-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6036 (G1)
Quality Score 222.009
Status Not validated
Chromosome 7
Chromosomal Location 144740261-144837748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144822606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 280 (T280A)
Ref Sequence ENSEMBL: ENSMUSP00000147178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058022] [ENSMUST00000208148] [ENSMUST00000208328] [ENSMUST00000208841] [ENSMUST00000209047]
AlphaFold Q8BWC0
Predicted Effect possibly damaging
Transcript: ENSMUST00000058022
AA Change: T280A

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000061308
Gene: ENSMUSG00000048677
AA Change: T280A

DomainStartEndE-ValueType
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: T256A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208328
AA Change: T280A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208841
AA Change: T280A

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209047
AA Change: T280A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.6%
  • 20x: 72.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,723,684 (GRCm39) probably benign Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Alpk3 G A 7: 80,743,005 (GRCm39) V941M probably benign Het
Ano4 A G 10: 88,818,127 (GRCm39) W588R possibly damaging Het
Atp6v1a A G 16: 43,919,194 (GRCm39) Y464H probably benign Het
Barx2 A T 9: 31,824,304 (GRCm39) D28E probably damaging Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Col10a1 A G 10: 34,271,278 (GRCm39) T417A probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Eif4enif1 T C 11: 3,189,420 (GRCm39) S227P probably damaging Het
Erv3 G A 2: 131,697,925 (GRCm39) H145Y possibly damaging Het
Exoc5 T C 14: 49,251,779 (GRCm39) T591A possibly damaging Het
F5 A T 1: 164,012,565 (GRCm39) E493V probably damaging Het
Gm8444 G T 15: 81,727,794 (GRCm39) probably benign Het
Gria4 T A 9: 4,537,646 (GRCm39) I221L probably benign Het
H2bc13 A T 13: 21,900,148 (GRCm39) S56T probably damaging Het
Hc T C 2: 34,929,696 (GRCm39) T249A probably benign Het
Herc2 A G 7: 55,717,801 (GRCm39) T48A probably benign Het
Hp A G 8: 110,303,406 (GRCm39) probably null Het
Ifna15 T G 4: 88,476,310 (GRCm39) D58A possibly damaging Het
Kcnj1 A T 9: 32,308,421 (GRCm39) M262L probably benign Het
Krt87 A C 15: 101,385,412 (GRCm39) I320S possibly damaging Het
Megf10 A G 18: 57,375,799 (GRCm39) N242D probably damaging Het
Nup155 A G 15: 8,157,895 (GRCm39) T451A probably benign Het
Or2ag2b A T 7: 106,417,667 (GRCm39) I126F probably damaging Het
Or4g7 T C 2: 111,309,333 (GRCm39) L68P probably damaging Het
Or4k35 C T 2: 111,099,957 (GRCm39) G252R probably damaging Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Or8d23 A G 9: 38,842,216 (GRCm39) I250V probably damaging Het
Pdzd8 G A 19: 59,293,641 (GRCm39) P403S probably damaging Het
Piezo2 G A 18: 63,248,019 (GRCm39) Q494* probably null Het
Plag1 T C 4: 3,904,618 (GRCm39) E191G possibly damaging Het
Pou4f2 A T 8: 79,162,103 (GRCm39) S167T probably damaging Het
Scd4 G A 19: 44,333,231 (GRCm39) D319N probably damaging Het
Senp2 A T 16: 21,847,308 (GRCm39) R279* probably null Het
Sh3rf3 G A 10: 58,649,806 (GRCm39) G137D probably benign Het
Simc1 C T 13: 54,672,434 (GRCm39) P261S probably benign Het
Slc26a1 T A 5: 108,821,436 (GRCm39) D151V probably damaging Het
Snx29 A G 16: 11,556,301 (GRCm39) probably null Het
Stard9 C T 2: 120,530,556 (GRCm39) A2271V probably benign Het
Stat6 A G 10: 127,491,313 (GRCm39) N485D possibly damaging Het
Ttc23 A G 7: 67,361,114 (GRCm39) I378V possibly damaging Het
Ttc29 A G 8: 79,052,205 (GRCm39) D362G probably benign Het
Ttll7 A G 3: 146,645,917 (GRCm39) I592V probably benign Het
Ugt3a1 A T 15: 9,306,172 (GRCm39) H107L probably benign Het
Vmn1r70 A G 7: 10,367,830 (GRCm39) Q87R probably damaging Het
Wdfy4 G T 14: 32,868,947 (GRCm39) S360R probably damaging Het
Zfp780b A G 7: 27,662,993 (GRCm39) Y521H probably damaging Het
Other mutations in Tpcn2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On 2017-06-26