Incidental Mutation 'R6633:Tpcn1'
ID 525292
Institutional Source Beutler Lab
Gene Symbol Tpcn1
Ensembl Gene ENSMUSG00000032741
Gene Name two pore channel 1
Synonyms 5730403B01Rik
MMRRC Submission 044755-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6633 (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 120682529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 493 (M493T)
Ref Sequence ENSEMBL: ENSMUSP00000042188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046426]
AlphaFold Q9EQJ0
Predicted Effect probably benign
Transcript: ENSMUST00000046426
AA Change: M493T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: M493T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (50/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C A 11: 84,402,308 (GRCm39) probably null Het
Acot7 C T 4: 152,262,716 (GRCm39) P30L probably benign Het
Adam24 T G 8: 41,133,526 (GRCm39) D331E probably benign Het
Adamdec1 T C 14: 68,810,601 (GRCm39) D185G probably benign Het
Adgrg7 T C 16: 56,550,649 (GRCm39) I688V probably benign Het
Adgrv1 A T 13: 81,716,762 (GRCm39) F779I probably damaging Het
Agtr1a A G 13: 30,565,450 (GRCm39) I172V probably benign Het
Anapc4 C T 5: 53,023,288 (GRCm39) H710Y possibly damaging Het
Arf1 T C 11: 59,103,370 (GRCm39) N179S probably benign Het
Arhgef40 C T 14: 52,234,888 (GRCm39) P1064S probably damaging Het
Btnl1 A G 17: 34,604,305 (GRCm39) N362S possibly damaging Het
Ccdc80 T C 16: 44,915,271 (GRCm39) F9S possibly damaging Het
Ccdc96 G A 5: 36,642,533 (GRCm39) E180K probably benign Het
Cdh2 A T 18: 16,773,605 (GRCm39) N241K probably benign Het
Cdk8 C A 5: 146,235,656 (GRCm39) S261* probably null Het
Csf2rb2 T C 15: 78,173,152 (GRCm39) E236G probably benign Het
Dgcr8 A T 16: 18,102,046 (GRCm39) S79T possibly damaging Het
Dnah5 A T 15: 28,293,933 (GRCm39) Y1346F probably benign Het
Dock6 A G 9: 21,731,627 (GRCm39) V1194A probably benign Het
Dock6 A G 9: 21,732,799 (GRCm39) S1129P probably damaging Het
Ephb2 C G 4: 136,411,307 (GRCm39) S451T probably benign Het
Esco1 T A 18: 10,595,738 (GRCm39) probably benign Het
Fcer1a C G 1: 173,054,293 (GRCm39) probably null Het
Gbx2 TCCCCC TCCCCCC 1: 89,856,442 (GRCm39) probably null Het
Gm44511 T A 6: 128,803,205 (GRCm39) D2V probably damaging Het
H2-Q2 A G 17: 35,561,363 (GRCm39) T19A probably damaging Het
Herc1 G T 9: 66,346,534 (GRCm39) E1967* probably null Het
Hic1 G T 11: 75,060,324 (GRCm39) H8N unknown Het
Irx4 G T 13: 73,416,545 (GRCm39) A314S probably benign Het
Jarid2 C A 13: 45,038,353 (GRCm39) H84N probably damaging Het
Klk1b27 A T 7: 43,705,234 (GRCm39) I134F probably damaging Het
Kprp T C 3: 92,732,600 (GRCm39) Y150C probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lrp10 T C 14: 54,706,531 (GRCm39) V489A probably benign Het
Mrgpra6 A G 7: 46,838,493 (GRCm39) I235T possibly damaging Het
Naip1 A G 13: 100,559,584 (GRCm39) M1140T probably benign Het
Naip1 C T 13: 100,559,593 (GRCm39) R1137Q probably benign Het
Or4c12 T C 2: 89,773,710 (GRCm39) I250V probably benign Het
Plcl2 A G 17: 50,947,168 (GRCm39) I1016V probably benign Het
Plekhb1 A G 7: 100,294,846 (GRCm39) Y122H probably damaging Het
Polr2a A G 11: 69,626,339 (GRCm39) S1604P possibly damaging Het
Ppp6r2 G A 15: 89,137,458 (GRCm39) probably null Het
Rag1 T A 2: 101,473,055 (GRCm39) R696W probably damaging Het
Rusc2 T C 4: 43,414,852 (GRCm39) F53L probably damaging Het
Rxylt1 G A 10: 121,932,958 (GRCm39) R7W probably damaging Het
Tango6 T C 8: 107,444,637 (GRCm39) V514A probably benign Het
Tex30 A C 1: 44,127,084 (GRCm39) H64Q probably benign Het
Tmbim7 A G 5: 3,707,659 (GRCm39) probably null Het
Tpx2 T G 2: 152,709,274 (GRCm39) F35V probably damaging Het
Vmn1r3 G A 4: 3,184,971 (GRCm39) T112I probably benign Het
Wnt2b T C 3: 104,858,372 (GRCm39) Y299C 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
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'- CAGGCAGACAGATCTTGCTG -3'
(R):5'- ATCCACCATGTATCAGCCTTG -3'

Sequencing Primer
(F):5'- ACAGATCTTGCTGTCCTCTGCAC -3'
(R):5'- ATGTATCAGCCTTGCTTCTAGCTGG -3'
Posted On 2018-06-22