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) question?
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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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