Incidental Mutation 'R7854:Tpcn1'
ID 607121
Institutional Source Beutler Lab
Gene Symbol Tpcn1
Ensembl Gene ENSMUSG00000032741
Gene Name two pore channel 1
Synonyms 5730403B01Rik
MMRRC Submission 045907-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7854 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 120672222-120726731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120687653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 364 (F364L)
Ref Sequence ENSEMBL: ENSMUSP00000042188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046426]
AlphaFold Q9EQJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000046426
AA Change: F364L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: F364L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (51/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,741,207 (GRCm39) I86F probably damaging Het
Als2cl A G 9: 110,727,564 (GRCm39) *953W probably null Het
Ap1g2 A G 14: 55,343,390 (GRCm39) F66L probably damaging Het
Aqp12 T G 1: 92,934,176 (GRCm39) C18G probably damaging Het
Atp9a T C 2: 168,490,523 (GRCm39) I826V probably benign Het
C1ra A G 6: 124,494,700 (GRCm39) Q321R probably benign Het
Calcoco1 T C 15: 102,627,991 (GRCm39) I48V possibly damaging Het
Cep63 A T 9: 102,480,197 (GRCm39) S269R probably damaging Het
Chchd7 T C 4: 3,943,422 (GRCm39) V63A possibly damaging Het
Dennd5b T C 6: 148,969,964 (GRCm39) D163G probably benign Het
Dpep2 T C 8: 106,716,160 (GRCm39) D251G Het
Ercc6 T C 14: 32,288,249 (GRCm39) L807P probably damaging Het
Fads6 A T 11: 115,188,222 (GRCm39) D27E probably benign Het
Gfer C A 17: 24,913,259 (GRCm39) D198Y probably damaging Het
Glce A T 9: 61,977,773 (GRCm39) I37N probably benign Het
Gps2 T C 11: 69,806,030 (GRCm39) L128P probably damaging Het
Gramd2b A G 18: 56,611,926 (GRCm39) T130A probably damaging Het
Hectd4 T A 5: 121,467,631 (GRCm39) Y2527N probably benign Het
Itpr1 A G 6: 108,364,330 (GRCm39) D820G probably damaging Het
Itsn2 T C 12: 4,751,276 (GRCm39) Y1289H probably damaging Het
Kcnh6 A T 11: 105,908,172 (GRCm39) I263F probably damaging Het
Kcns2 A T 15: 34,839,917 (GRCm39) M427L probably benign Het
Mptx1 A T 1: 174,159,966 (GRCm39) M91L probably benign Het
Ms4a20 T A 19: 11,089,741 (GRCm39) Y48F probably benign Het
Mtx2 A G 2: 74,699,231 (GRCm39) Y128C probably damaging Het
Myh9 A T 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndufs2 T C 1: 171,066,938 (GRCm39) D140G probably damaging Het
Obscn T C 11: 58,981,538 (GRCm39) T1827A probably benign Het
Ogn A T 13: 49,774,514 (GRCm39) Y219F possibly damaging Het
Or1ak2 A G 2: 36,828,036 (GRCm39) R302G probably benign Het
Or51f2 C T 7: 102,526,992 (GRCm39) R222* probably null Het
Parp4 A G 14: 56,896,805 (GRCm39) E1943G unknown Het
Pex19 T G 1: 171,954,417 (GRCm39) probably null Het
Prss53 T C 7: 127,488,117 (GRCm39) N166S probably benign Het
Prx T A 7: 27,216,066 (GRCm39) V328E probably damaging Het
Pstpip2 C T 18: 77,962,004 (GRCm39) T258I probably benign Het
Rasgrp4 C T 7: 28,850,035 (GRCm39) P58L unknown Het
Ros1 T C 10: 52,004,563 (GRCm39) Y1019C probably damaging Het
Rptor T C 11: 119,748,779 (GRCm39) M787T probably benign Het
Rsf1 GGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCGGCGGC 7: 97,229,131 (GRCm39) probably benign Het
Spef2 T A 15: 9,596,730 (GRCm39) R1440W possibly damaging Het
Spta1 T A 1: 174,046,396 (GRCm39) probably null Het
Sptbn4 T C 7: 27,061,835 (GRCm39) I2335V probably benign Het
Srp68 G C 11: 116,144,909 (GRCm39) probably null Het
Taar1 A G 10: 23,796,680 (GRCm39) D126G probably benign Het
Tdrd9 A G 12: 112,013,395 (GRCm39) T1210A probably benign Het
Tle5 A G 10: 81,401,481 (GRCm39) H183R probably damaging Het
Trav2 A T 14: 52,805,238 (GRCm39) K20* probably null Het
Trpa1 T C 1: 14,951,918 (GRCm39) E927G probably benign Het
Tyk2 A T 9: 21,026,776 (GRCm39) D637E probably benign Het
Vmn1r200 T C 13: 22,580,009 (GRCm39) F271L probably benign Het
Vmn1r231 T A 17: 21,110,894 (GRCm39) D7V probably damaging Het
Wwc2 G A 8: 48,321,512 (GRCm39) T534I unknown 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
R4831:Tpcn1 UTSW 5 120,691,554 (GRCm39) missense probably damaging 1.00
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
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'- ACGTGGTACCCAACTCTCTC -3'
(R):5'- CAGGGAGGGACTTCATTCTC -3'

Sequencing Primer
(F):5'- GATTTGCACTCAGGACCTTCAGAAG -3'
(R):5'- GCCTATGGGAGAAATGCAG -3'
Posted On 2019-12-20