Incidental Mutation 'R4831:Tpcn1'
ID 372798
Institutional Source Beutler Lab
Gene Symbol Tpcn1
Ensembl Gene ENSMUSG00000032741
Gene Name two pore channel 1
Synonyms 5730403B01Rik
MMRRC Submission 042447-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4831 (G1)
Quality Score 83
Status Validated
Chromosome 5
Chromosomal Location 120672222-120726731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120691554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 300 (F300Y)
Ref Sequence ENSEMBL: ENSMUSP00000042188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046426]
AlphaFold Q9EQJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000046426
AA Change: F300Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: F300Y

DomainStartEndE-ValueType
Pfam:Ion_trans 106 332 1.5e-30 PFAM
Pfam:Ion_trans 441 695 1.2e-31 PFAM
SCOP:d1fxkc_ 713 795 2e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201971
Meta Mutation Damage Score 0.1453 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 99% (96/97)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous inactivation of this gene results in no apparent phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik C T 11: 69,791,403 (GRCm39) V59I possibly damaging Het
4930544M13Rik T G 13: 114,744,183 (GRCm39) noncoding transcript Het
Abca13 A T 11: 9,492,077 (GRCm39) K4373* probably null Het
Abtb2 A T 2: 103,513,820 (GRCm39) T410S probably benign Het
Adamts13 T C 2: 26,873,142 (GRCm39) probably null Het
Ahnak2 C G 12: 112,742,183 (GRCm39) D630H probably damaging Het
Aox3 T C 1: 58,191,725 (GRCm39) S426P probably damaging Het
Atxn10 C T 15: 85,271,260 (GRCm39) S266F probably benign Het
B4galnt4 G T 7: 140,647,634 (GRCm39) M407I probably damaging Het
B4galnt4 T A 7: 140,644,470 (GRCm39) probably null Het
Bclaf1 T A 10: 20,197,872 (GRCm39) probably benign Het
C4b C T 17: 34,955,864 (GRCm39) probably null Het
Cdc42bpg T C 19: 6,361,365 (GRCm39) F297S probably damaging Het
Cdh10 A T 15: 19,013,664 (GRCm39) T755S probably benign Het
Ceacam12 T A 7: 17,811,305 (GRCm39) probably null Het
Cfap65 C A 1: 74,956,454 (GRCm39) V1042F possibly damaging Het
Cfap77 T C 2: 28,875,844 (GRCm39) I89V probably benign Het
Cfh T C 1: 140,014,125 (GRCm39) D688G probably benign Het
Clip1 C G 5: 123,721,664 (GRCm39) A1182P probably damaging Het
Cyp2b10 T A 7: 25,614,921 (GRCm39) Y309* probably null Het
Dcaf5 T C 12: 80,385,858 (GRCm39) E756G probably benign Het
Dctn1 A T 6: 83,176,753 (GRCm39) Q1231L possibly damaging Het
Dennd1c T A 17: 57,373,428 (GRCm39) R682* probably null Het
Eml6 C A 11: 29,727,052 (GRCm39) E1319* probably null Het
Erap1 T C 13: 74,838,766 (GRCm39) I904T probably damaging Het
Eri1 A T 8: 35,943,673 (GRCm39) I207N possibly damaging Het
Farp1 G A 14: 121,514,469 (GRCm39) A933T probably damaging Het
Fcna T A 2: 25,515,353 (GRCm39) Q210L probably benign Het
Fhad1 A T 4: 141,643,378 (GRCm39) probably null Het
Fut8 T G 12: 77,440,603 (GRCm39) Y197D probably damaging Het
Garem1 G A 18: 21,262,825 (GRCm39) T663I probably benign Het
Gfm2 T C 13: 97,301,546 (GRCm39) S450P probably damaging Het
Gstk1 T G 6: 42,222,938 (GRCm39) probably benign Het
Helz2 C T 2: 180,879,210 (GRCm39) A803T probably damaging Het
Igsf9 T A 1: 172,319,455 (GRCm39) I280N probably damaging Het
Klhl10 A G 11: 100,336,669 (GRCm39) K219E probably benign Het
L3mbtl4 T A 17: 68,768,558 (GRCm39) V222D probably damaging Het
Lrrc9 A T 12: 72,546,453 (GRCm39) N1214Y probably damaging Het
Ltbp2 C T 12: 84,840,414 (GRCm39) E1051K possibly damaging Het
Mettl17 T C 14: 52,122,440 (GRCm39) F13S probably benign Het
Mettl24 C A 10: 40,559,413 (GRCm39) A21D possibly damaging Het
Mfsd6l T A 11: 68,447,331 (GRCm39) C61S probably benign Het
Mob4 T G 1: 55,191,899 (GRCm39) D204E probably benign Het
Mtus1 C G 8: 41,536,189 (GRCm39) R509T probably damaging Het
Nlrp4a T A 7: 26,149,844 (GRCm39) F484I possibly damaging Het
Nsrp1 T C 11: 76,941,444 (GRCm39) N88S probably benign Het
Odad2 G T 18: 7,222,564 (GRCm39) H568Q possibly damaging Het
Or10d5 C T 9: 39,861,408 (GRCm39) V220I probably benign Het
Or2g25 T A 17: 37,970,969 (GRCm39) H85L probably benign Het
Or51b6b T C 7: 103,309,678 (GRCm39) T260A probably benign Het
Or6c2 T A 10: 129,362,449 (GRCm39) Y118N probably damaging Het
Parg A G 14: 31,924,408 (GRCm39) N69S probably benign Het
Pcdh9 A C 14: 94,125,377 (GRCm39) N264K probably damaging Het
Pcdhb22 G T 18: 37,653,615 (GRCm39) L694F probably damaging Het
Pcnt T C 10: 76,248,335 (GRCm39) E928G probably damaging Het
Pdzk1 G A 3: 96,775,751 (GRCm39) G373D probably benign Het
Pea15a A G 1: 172,026,740 (GRCm39) I89T probably damaging Het
Phc1 T A 6: 122,313,964 (GRCm39) probably benign Het
Pikfyve T A 1: 65,235,900 (GRCm39) C191S probably damaging Het
Pitpnm1 T A 19: 4,158,130 (GRCm39) D573E probably damaging Het
Pld5 A G 1: 176,102,450 (GRCm39) probably benign Het
Plscr2 A T 9: 92,173,130 (GRCm39) N89I possibly damaging Het
Pm20d2 A C 4: 33,179,293 (GRCm39) N315K probably damaging Het
Pnpla1 T A 17: 29,097,518 (GRCm39) M228K probably benign Het
Prim2 T C 1: 33,709,217 (GRCm39) probably benign Het
Ralgapa2 A G 2: 146,246,987 (GRCm39) probably benign Het
Rgs22 G T 15: 36,050,294 (GRCm39) H719N probably benign Het
Ror2 C T 13: 53,272,880 (GRCm39) D250N probably damaging Het
Saal1 A G 7: 46,349,071 (GRCm39) V281A probably benign Het
Selenof A T 3: 144,296,411 (GRCm39) K94N probably damaging Het
Slamf9 T A 1: 172,304,831 (GRCm39) C148* probably null Het
Slc4a7 T C 14: 14,772,699 (GRCm38) probably null Het
Slco1a5 A G 6: 142,180,431 (GRCm39) I657T probably benign Het
St3gal2 A T 8: 111,684,480 (GRCm39) H46L probably benign Het
Sucnr1 T G 3: 59,994,069 (GRCm39) M199R probably damaging Het
Taok1 T A 11: 77,444,500 (GRCm39) E525V probably null Het
Tbc1d10c T A 19: 4,235,445 (GRCm39) E298V probably damaging Het
Tll2 T A 19: 41,118,951 (GRCm39) H259L probably damaging Het
Uba6 T A 5: 86,279,197 (GRCm39) I642L probably benign Het
Ubqln5 T A 7: 103,778,829 (GRCm39) probably benign Het
Vmn1r27 A T 6: 58,192,827 (GRCm39) L9Q possibly damaging Het
Vmn2r100 C T 17: 19,741,672 (GRCm39) T128I probably benign Het
Vmn2r109 C T 17: 20,761,494 (GRCm39) G621D probably benign Het
Vmn2r49 C T 7: 9,720,352 (GRCm39) D380N probably benign Het
Vps13a C T 19: 16,655,356 (GRCm39) V1891I probably benign Het
Wbp2 G T 11: 115,971,463 (GRCm39) Y147* probably null Het
Wdr46 T A 17: 34,160,810 (GRCm39) N191K probably benign Het
Wdr46 T C 17: 34,168,373 (GRCm39) probably benign Het
Wnt2 A C 6: 18,023,285 (GRCm39) F121L probably benign Het
Xpnpep1 T A 19: 53,003,053 (GRCm39) D100V probably benign Het
Xpo4 T C 14: 57,827,559 (GRCm39) Y879C probably damaging Het
Zswim4 A T 8: 84,938,948 (GRCm39) V978D probably damaging Het
Other mutations in Tpcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Tpcn1 APN 5 120,683,370 (GRCm39) missense probably damaging 0.99
IGL00551:Tpcn1 APN 5 120,698,390 (GRCm39) missense probably benign 0.31
IGL02197:Tpcn1 APN 5 120,691,596 (GRCm39) missense probably damaging 1.00
IGL02584:Tpcn1 APN 5 120,677,097 (GRCm39) missense probably damaging 0.99
IGL03064:Tpcn1 APN 5 120,675,631 (GRCm39) missense possibly damaging 0.90
PIT1430001:Tpcn1 UTSW 5 120,686,388 (GRCm39) splice site probably benign
R0295:Tpcn1 UTSW 5 120,677,125 (GRCm39) missense probably damaging 1.00
R0316:Tpcn1 UTSW 5 120,677,324 (GRCm39) missense probably damaging 1.00
R1577:Tpcn1 UTSW 5 120,682,485 (GRCm39) missense probably damaging 1.00
R1660:Tpcn1 UTSW 5 120,687,580 (GRCm39) missense possibly damaging 0.82
R1819:Tpcn1 UTSW 5 120,674,292 (GRCm39) splice site probably null
R2051:Tpcn1 UTSW 5 120,681,453 (GRCm39) missense probably damaging 1.00
R2364:Tpcn1 UTSW 5 120,691,559 (GRCm39) nonsense probably null
R2497:Tpcn1 UTSW 5 120,677,063 (GRCm39) splice site probably null
R3965:Tpcn1 UTSW 5 120,694,640 (GRCm39) missense probably damaging 0.98
R3972:Tpcn1 UTSW 5 120,691,817 (GRCm39) critical splice donor site probably null
R4062:Tpcn1 UTSW 5 120,695,962 (GRCm39) missense possibly damaging 0.82
R4343:Tpcn1 UTSW 5 120,698,285 (GRCm39) missense probably damaging 1.00
R4422:Tpcn1 UTSW 5 120,680,583 (GRCm39) missense probably damaging 1.00
R4423:Tpcn1 UTSW 5 120,680,583 (GRCm39) missense probably damaging 1.00
R4424:Tpcn1 UTSW 5 120,680,583 (GRCm39) missense probably damaging 1.00
R4655:Tpcn1 UTSW 5 120,677,322 (GRCm39) missense probably damaging 0.98
R4910:Tpcn1 UTSW 5 120,694,584 (GRCm39) missense probably damaging 0.98
R4948:Tpcn1 UTSW 5 120,694,596 (GRCm39) missense probably benign 0.15
R4965:Tpcn1 UTSW 5 120,685,552 (GRCm39) missense possibly damaging 0.82
R4976:Tpcn1 UTSW 5 120,698,387 (GRCm39) missense probably benign
R5071:Tpcn1 UTSW 5 120,686,334 (GRCm39) critical splice donor site probably null
R5165:Tpcn1 UTSW 5 120,696,010 (GRCm39) missense probably damaging 1.00
R5210:Tpcn1 UTSW 5 120,677,279 (GRCm39) missense probably damaging 1.00
R5910:Tpcn1 UTSW 5 120,685,462 (GRCm39) intron probably benign
R5939:Tpcn1 UTSW 5 120,677,892 (GRCm39) missense probably damaging 1.00
R6364:Tpcn1 UTSW 5 120,691,875 (GRCm39) missense probably damaging 1.00
R6633:Tpcn1 UTSW 5 120,682,529 (GRCm39) missense probably benign 0.03
R6650:Tpcn1 UTSW 5 120,675,627 (GRCm39) missense probably null 0.50
R6885:Tpcn1 UTSW 5 120,682,502 (GRCm39) missense probably benign 0.21
R7038:Tpcn1 UTSW 5 120,723,342 (GRCm39) missense probably damaging 0.99
R7247:Tpcn1 UTSW 5 120,723,315 (GRCm39) missense possibly damaging 0.63
R7594:Tpcn1 UTSW 5 120,694,595 (GRCm39) missense possibly damaging 0.67
R7629:Tpcn1 UTSW 5 120,676,002 (GRCm39) missense probably benign 0.00
R7854:Tpcn1 UTSW 5 120,687,653 (GRCm39) missense probably damaging 1.00
R8478:Tpcn1 UTSW 5 120,698,386 (GRCm39) missense probably benign
R8967:Tpcn1 UTSW 5 120,694,023 (GRCm39) missense probably damaging 0.98
R8970:Tpcn1 UTSW 5 120,682,518 (GRCm39) missense probably damaging 1.00
R9137:Tpcn1 UTSW 5 120,695,990 (GRCm39) missense probably damaging 1.00
R9158:Tpcn1 UTSW 5 120,687,988 (GRCm39) splice site probably benign
R9179:Tpcn1 UTSW 5 120,680,015 (GRCm39) missense probably damaging 1.00
R9180:Tpcn1 UTSW 5 120,694,000 (GRCm39) missense probably benign 0.00
R9241:Tpcn1 UTSW 5 120,691,558 (GRCm39) missense probably benign 0.01
R9341:Tpcn1 UTSW 5 120,678,737 (GRCm39) missense possibly damaging 0.81
R9343:Tpcn1 UTSW 5 120,678,737 (GRCm39) missense possibly damaging 0.81
R9502:Tpcn1 UTSW 5 120,698,390 (GRCm39) missense probably benign 0.19
R9594:Tpcn1 UTSW 5 120,686,021 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- AATTTTCACTGCAGGGGTGG -3'
(R):5'- TCTCAGTGAACACAGGGCTGAG -3'

Sequencing Primer
(F):5'- CGGCACCATCTACAAAGTGGAG -3'
(R):5'- TGAACACAGGGCTGAGTGGAG -3'
Posted On 2016-03-01