Incidental Mutation 'R4424:Tpcn1'
ID 327261
Institutional Source Beutler Lab
Gene Symbol Tpcn1
Ensembl Gene ENSMUSG00000032741
Gene Name two pore channel 1
Synonyms 5730403B01Rik
MMRRC Submission 041696-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4424 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 120672222-120726731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120680583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 549 (K549R)
Ref Sequence ENSEMBL: ENSMUSP00000042188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046426]
AlphaFold Q9EQJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000046426
AA Change: K549R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: K549R

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
Meta Mutation Damage Score 0.5766 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 95% (69/73)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,445,491 (GRCm39) probably benign Het
Aimp1 A T 3: 132,373,253 (GRCm39) L229Q probably benign Het
Ankrd16 T A 2: 11,789,215 (GRCm39) D267E possibly damaging Het
Apol11b A G 15: 77,522,133 (GRCm39) probably null Het
Arfgap1 C A 2: 180,622,869 (GRCm39) D327E probably benign Het
Arid3b A T 9: 57,741,151 (GRCm39) D98E probably benign Het
Art2b T A 7: 101,229,129 (GRCm39) I257F probably benign Het
Atp5f1a T A 18: 77,867,766 (GRCm39) probably benign Het
Carmil3 A G 14: 55,738,928 (GRCm39) T861A probably benign Het
Cep164 A T 9: 45,691,002 (GRCm39) F1259L possibly damaging Het
Cfap91 G T 16: 38,140,727 (GRCm39) P409T probably damaging Het
Chrnd T C 1: 87,123,512 (GRCm39) V350A probably benign Het
Clcn7 T C 17: 25,379,150 (GRCm39) L744P probably damaging Het
Csl T A 10: 99,594,453 (GRCm39) D204V possibly damaging Het
Cstdc3 A G 16: 36,132,951 (GRCm39) D76G probably null Het
Cyp2c29 G T 19: 39,275,620 (GRCm39) W20L probably damaging Het
Dhrs13 G T 11: 77,927,951 (GRCm39) G266* probably null Het
Dll3 T C 7: 27,995,716 (GRCm39) N362D probably damaging Het
Efcab3 T G 11: 104,626,940 (GRCm39) probably null Het
Fanca A G 8: 124,015,532 (GRCm39) V715A probably benign Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Fpr2 C T 17: 18,113,394 (GRCm39) P130L probably damaging Het
Glce A G 9: 61,967,535 (GRCm39) Y539H probably damaging Het
Hfe A T 13: 23,890,866 (GRCm39) V91E probably benign Het
Hoxd13 A T 2: 74,500,301 (GRCm39) K281* probably null Het
Ighv1-66 A T 12: 115,557,157 (GRCm39) W3R probably damaging Het
Impg2 G A 16: 56,080,388 (GRCm39) V622I possibly damaging Het
Jun A G 4: 94,939,084 (GRCm39) M142T probably benign Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Lama3 T A 18: 12,652,929 (GRCm39) C216* probably null Het
Lin54 G T 5: 100,594,419 (GRCm39) T582K probably damaging Het
Mapk11 A G 15: 89,029,576 (GRCm39) probably null Het
Mindy3 A G 2: 12,353,010 (GRCm39) M397T probably benign Het
Mrpl41 T C 2: 24,864,418 (GRCm39) T85A possibly damaging Het
Msh6 T A 17: 88,298,217 (GRCm39) L1354* probably null Het
Mtmr12 T C 15: 12,230,400 (GRCm39) V41A probably damaging Het
Myh2 A T 11: 67,083,551 (GRCm39) Q1478L probably benign Het
Myo6 A G 9: 80,195,320 (GRCm39) K897E probably benign Het
Naprt G T 15: 75,764,605 (GRCm39) probably null Het
Nrl G A 14: 55,759,675 (GRCm39) S84L probably benign Het
Nxf1 A G 19: 8,744,128 (GRCm39) probably benign Het
Or8g2b A T 9: 39,751,652 (GRCm39) R307S possibly damaging Het
Panx2 G T 15: 88,952,423 (GRCm39) V305F probably benign Het
Pcdhga1 T C 18: 37,795,632 (GRCm39) L212P probably damaging Het
Pik3ap1 G A 19: 41,364,320 (GRCm39) T133I probably benign Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Prkdc G A 16: 15,653,946 (GRCm39) R3901H probably damaging Het
Prkdc A G 16: 15,591,603 (GRCm39) K2694E probably damaging Het
Psma8 A G 18: 14,854,247 (GRCm39) I42M probably damaging Het
Ptprd A T 4: 76,021,200 (GRCm39) M599K probably benign Het
Rnmt A G 18: 68,444,742 (GRCm39) D237G probably null Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Scaf11 G A 15: 96,316,309 (GRCm39) T1085I possibly damaging Het
Sec14l3 G A 11: 4,016,210 (GRCm39) R43Q probably damaging Het
Shc4 G T 2: 125,494,442 (GRCm39) T131K probably benign Het
Snx27 A G 3: 94,469,330 (GRCm39) F4L probably benign Het
Sorcs1 T C 19: 50,367,379 (GRCm39) T228A probably damaging Het
Spmap2l T C 5: 77,202,383 (GRCm39) I268T possibly damaging Het
Sptan1 C T 2: 29,919,721 (GRCm39) probably benign Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tex47 G T 5: 7,355,364 (GRCm39) A182S probably benign Het
Upf3a C A 8: 13,846,573 (GRCm39) P318T probably benign Het
Zbtb40 A T 4: 136,726,005 (GRCm39) M518K probably damaging Het
Zcchc14 G A 8: 122,378,680 (GRCm39) probably benign Het
Zfp687 G A 3: 94,916,439 (GRCm39) P861L 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
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
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'- TGTCTCTTTGAAGACCACCC -3'
(R):5'- TGAGTCTAGCCCAGTCTGTG -3'

Sequencing Primer
(F):5'- TCTCTTTGAAGACCACCCCCAAG -3'
(R):5'- CATCCAGTGCCACAGTTTATGAG -3'
Posted On 2015-07-07