Incidental Mutation 'R6650:Tpcn1'
ID 527736
Institutional Source Beutler Lab
Gene Symbol Tpcn1
Ensembl Gene ENSMUSG00000032741
Gene Name two pore channel 1
Synonyms 5730403B01Rik
MMRRC Submission 044771-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6650 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 120672222-120726731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120675627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 779 (Q779L)
Ref Sequence ENSEMBL: ENSMUSP00000042188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046426] [ENSMUST00000068326] [ENSMUST00000076051] [ENSMUST00000111889] [ENSMUST00000111890]
AlphaFold Q9EQJ0
Predicted Effect probably null
Transcript: ENSMUST00000046426
AA Change: Q779L

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: Q779L

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 probably benign
Transcript: ENSMUST00000068326
SMART Domains Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_Ca_ex 103 246 5.7e-25 PFAM
low complexity region 262 275 N/A INTRINSIC
low complexity region 337 351 N/A INTRINSIC
transmembrane domain 360 382 N/A INTRINSIC
transmembrane domain 387 409 N/A INTRINSIC
Pfam:Na_Ca_ex 421 574 1.8e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076051
SMART Domains Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_Ca_ex 113 244 9.2e-19 PFAM
low complexity region 262 275 N/A INTRINSIC
transmembrane domain 323 345 N/A INTRINSIC
transmembrane domain 360 382 N/A INTRINSIC
transmembrane domain 387 409 N/A INTRINSIC
Pfam:Na_Ca_ex 431 477 2.3e-8 PFAM
low complexity region 507 519 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111889
SMART Domains Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_Ca_ex 113 232 2.5e-16 PFAM
low complexity region 281 295 N/A INTRINSIC
transmembrane domain 304 326 N/A INTRINSIC
transmembrane domain 331 353 N/A INTRINSIC
Pfam:Na_Ca_ex 375 516 1.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111890
SMART Domains Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_Ca_ex 116 227 2.8e-12 PFAM
low complexity region 245 258 N/A INTRINSIC
low complexity region 320 334 N/A INTRINSIC
transmembrane domain 343 365 N/A INTRINSIC
transmembrane domain 370 392 N/A INTRINSIC
Pfam:Na_Ca_ex 414 555 3.2e-27 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 A G 1: 78,659,639 (GRCm39) N97S probably benign Het
Aph1a T C 3: 95,803,598 (GRCm39) V220A probably benign Het
Bin2 T A 15: 100,567,301 (GRCm39) Q25L probably damaging Het
Ccdc102a T C 8: 95,639,892 (GRCm39) E134G probably benign Het
Cdh6 A G 15: 13,051,487 (GRCm39) V382A probably benign Het
Cep135 T A 5: 76,781,548 (GRCm39) V845E possibly damaging Het
Cngb3 T C 4: 19,364,168 (GRCm39) L124P probably damaging Het
Cped1 A G 6: 22,233,975 (GRCm39) N725S probably damaging Het
Dcn C A 10: 97,343,605 (GRCm39) N188K probably benign Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Ercc3 C T 18: 32,394,389 (GRCm39) R590C probably damaging Het
Fchsd1 A T 18: 38,099,555 (GRCm39) L213* probably null Het
Fmod A G 1: 133,968,745 (GRCm39) S262G probably benign Het
Gm45861 T C 8: 27,995,043 (GRCm39) S530P unknown Het
Ifih1 T C 2: 62,436,791 (GRCm39) D544G possibly damaging Het
Itpr1 A G 6: 108,371,034 (GRCm39) probably null Het
Larp1 CA CAA 11: 57,949,422 (GRCm39) probably null Het
Lbp T A 2: 158,151,587 (GRCm39) S102R probably benign Het
Lepr C A 4: 101,672,398 (GRCm39) Q1141K probably damaging Het
Mcm8 C A 2: 132,663,327 (GRCm39) N148K probably benign Het
Mcpt4 T G 14: 56,298,090 (GRCm39) T154P possibly damaging Het
Mrpl22 A G 11: 58,066,134 (GRCm39) Y76C probably damaging Het
Msln T C 17: 25,969,144 (GRCm39) I414V probably benign Het
Ncor1 G A 11: 62,225,367 (GRCm39) T1798I probably damaging Het
Nlrp4c T A 7: 6,068,948 (GRCm39) F283Y probably damaging Het
Os9 C T 10: 126,935,953 (GRCm39) probably null Het
Pira12 T A 7: 3,898,632 (GRCm39) Q272L probably benign Het
Pira13 T A 7: 3,819,898 (GRCm39) H555L possibly damaging Het
Pja2 T C 17: 64,599,936 (GRCm39) E516G probably damaging Het
Pofut1 T A 2: 153,101,270 (GRCm39) probably benign Het
Prl2b1 G T 13: 27,569,249 (GRCm39) H116Q probably benign Het
Ralgapa2 T C 2: 146,230,422 (GRCm39) K1048E probably damaging Het
Scnn1b G A 7: 121,502,043 (GRCm39) V234M probably damaging Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Sh3pxd2a C T 19: 47,256,663 (GRCm39) G685D probably benign Het
Six4 C A 12: 73,150,299 (GRCm39) G749C probably benign Het
Tnn G A 1: 159,942,153 (GRCm39) T1115I probably damaging Het
Ugt2a2 A G 5: 87,622,459 (GRCm39) Y380H probably damaging Het
Xkr8 T C 4: 132,455,249 (GRCm39) T375A probably benign Het
Zdhhc20 T A 14: 58,096,032 (GRCm39) K135N probably damaging Het
Zfp235 T A 7: 23,836,463 (GRCm39) probably null Het
Zfp354c A G 11: 50,705,518 (GRCm39) V519A 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
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
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'- ATCTCTAGAAAGATCCACTGGGG -3'
(R):5'- CACGCAGAAACGTCAATAGG -3'

Sequencing Primer
(F):5'- AAGATCCACTGGGGGCACTG -3'
(R):5'- TAGGATAGGAGCAGCAGCCTC -3'
Posted On 2018-07-23