Incidental Mutation 'Y4335:Tpcn2'
ID 197499
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) question?
Stock # Y4335 ()
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 144740261-144837748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144810972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 575 (Y575C)
Ref Sequence ENSEMBL: ENSMUSP00000061308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058022] [ENSMUST00000208148] [ENSMUST00000208328] [ENSMUST00000208841] [ENSMUST00000209047]
AlphaFold Q8BWC0
Predicted Effect probably damaging
Transcript: ENSMUST00000058022
AA Change: Y575C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000061308
Gene: ENSMUSG00000048677
AA Change: Y575C

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
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: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
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: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 ACAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAGC 6: 86,936,124 (GRCm39) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Naip1 C A 13: 100,562,030 (GRCm39) R1045L probably benign Het
Nckipsd C T 9: 108,694,744 (GRCm39) R649C probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly 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
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
Predicted Primers
Posted On 2014-05-23