Incidental Mutation 'R7730:Tc2n'
ID 595776
Institutional Source Beutler Lab
Gene Symbol Tc2n
Ensembl Gene ENSMUSG00000021187
Gene Name tandem C2 domains, nuclear
Synonyms 4933406D09Rik, Mtac2d1, Tac2-N
MMRRC Submission 045786-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R7730 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 101611702-101684782 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101617406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 402 (Y402H)
Ref Sequence ENSEMBL: ENSMUSP00000125288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110047] [ENSMUST00000160715] [ENSMUST00000160830] [ENSMUST00000162735]
AlphaFold Q91XT6
Predicted Effect probably damaging
Transcript: ENSMUST00000110047
AA Change: Y402H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105674
Gene: ENSMUSG00000021187
AA Change: Y402H

DomainStartEndE-ValueType
low complexity region 162 173 N/A INTRINSIC
low complexity region 190 210 N/A INTRINSIC
C2 238 339 5.56e0 SMART
C2 366 472 1.02e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000160715
AA Change: Y338H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125099
Gene: ENSMUSG00000021187
AA Change: Y338H

DomainStartEndE-ValueType
low complexity region 162 173 N/A INTRINSIC
low complexity region 190 210 N/A INTRINSIC
Blast:C2 238 287 1e-24 BLAST
C2 302 408 1.02e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160830
AA Change: Y402H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124287
Gene: ENSMUSG00000021187
AA Change: Y402H

DomainStartEndE-ValueType
low complexity region 162 173 N/A INTRINSIC
low complexity region 190 210 N/A INTRINSIC
C2 238 339 5.56e0 SMART
C2 366 472 1.02e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162735
AA Change: Y402H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125288
Gene: ENSMUSG00000021187
AA Change: Y402H

DomainStartEndE-ValueType
low complexity region 162 173 N/A INTRINSIC
low complexity region 190 210 N/A INTRINSIC
C2 238 339 5.56e0 SMART
C2 366 472 1.02e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T A 11: 48,838,703 (GRCm39) H628L probably benign Het
Adam6a T A 12: 113,507,660 (GRCm39) V11E possibly damaging Het
Amotl1 T G 9: 14,467,059 (GRCm39) K660T possibly damaging Het
Ap4m1 T C 5: 138,171,077 (GRCm39) I59T probably damaging Het
Brd3 T C 2: 27,346,967 (GRCm39) Y389C probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Card11 C A 5: 140,871,751 (GRCm39) R650L probably damaging Het
Cercam G A 2: 29,762,574 (GRCm39) probably null Het
Cnst T C 1: 179,452,650 (GRCm39) C673R probably damaging Het
Dld G T 12: 31,390,864 (GRCm39) T194K probably benign Het
Dnah12 T A 14: 26,507,890 (GRCm39) W1714R probably damaging Het
Dsg1a T G 18: 20,464,768 (GRCm39) V421G possibly damaging Het
Fer1l4 G T 2: 155,890,854 (GRCm39) P188Q probably benign Het
Gpr158 T C 2: 21,831,158 (GRCm39) S753P probably damaging Het
Hdc A T 2: 126,436,002 (GRCm39) M623K possibly damaging Het
Herc1 CAACCCTGGTAAC CAAC 9: 66,400,472 (GRCm39) probably benign Het
Igf2r A T 17: 12,954,878 (GRCm39) F203I probably damaging Het
Jag2 A T 12: 112,885,661 (GRCm39) I145N probably damaging Het
Kcnt2 T A 1: 140,446,686 (GRCm39) F694I probably benign Het
Lpl A T 8: 69,340,100 (GRCm39) R32* probably null Het
Mcpt4 T A 14: 56,297,428 (GRCm39) I243L probably benign Het
Mtf1 C A 4: 124,732,412 (GRCm39) A490E possibly damaging Het
Mycbp2 A T 14: 103,360,791 (GRCm39) M4497K probably damaging Het
Myog T C 1: 134,218,914 (GRCm39) probably null Het
Nav2 T C 7: 49,222,145 (GRCm39) S1757P probably damaging Het
Or7g18 T G 9: 18,786,709 (GRCm39) F26V probably benign Het
Osmr T A 15: 6,853,963 (GRCm39) I583F probably damaging Het
Phf19 T A 2: 34,785,816 (GRCm39) E551V probably damaging Het
Plxnb2 A G 15: 89,046,533 (GRCm39) M870T probably benign Het
Psat1 A G 19: 15,895,720 (GRCm39) F83L probably damaging Het
Reep1 T A 6: 71,757,725 (GRCm39) V108D possibly damaging Het
Rorc A G 3: 94,300,421 (GRCm39) T455A probably benign Het
Serinc5 T G 13: 92,821,698 (GRCm39) I169S probably damaging Het
Serpinb6c T C 13: 34,083,292 (GRCm39) M41V probably damaging Het
Sgsm3 A T 15: 80,892,927 (GRCm39) N335Y probably damaging Het
Slamf7 C T 1: 171,468,589 (GRCm39) R101H possibly damaging Het
Slc17a4 A T 13: 24,084,503 (GRCm39) L427* probably null Het
Slc35a5 T C 16: 44,964,246 (GRCm39) Q329R probably damaging Het
Slc45a1 C T 4: 150,715,397 (GRCm39) C656Y probably damaging Het
Srsf6 T C 2: 162,773,643 (GRCm39) I18T probably damaging Het
Syn3 T G 10: 86,284,773 (GRCm39) H109P probably benign Het
Synj2 T C 17: 6,066,562 (GRCm39) V580A probably benign Het
Tbc1d9b T C 11: 50,026,742 (GRCm39) V70A possibly damaging Het
Tmbim4 T C 10: 120,059,767 (GRCm39) C164R possibly damaging Het
Tnfrsf11b T A 15: 54,117,470 (GRCm39) R262* probably null Het
Tnip1 T C 11: 54,828,805 (GRCm39) K121E probably benign Het
Tut1 T C 19: 8,941,740 (GRCm39) probably null Het
Uhrf2 T A 19: 30,052,501 (GRCm39) C332S probably damaging Het
Vmn2r101 A G 17: 19,831,950 (GRCm39) I649V possibly damaging Het
Vwa8 A G 14: 79,232,589 (GRCm39) T644A probably benign Het
Zfhx2 T C 14: 55,304,357 (GRCm39) H1209R possibly damaging Het
Zfp384 A G 6: 125,008,635 (GRCm39) I306V probably benign Het
Zfp964 A G 8: 70,116,360 (GRCm39) E320G possibly damaging Het
Zmym2 A T 14: 57,193,638 (GRCm39) Y1151F possibly damaging Het
Other mutations in Tc2n
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Tc2n APN 12 101,615,348 (GRCm39) utr 3 prime probably benign
IGL02129:Tc2n APN 12 101,656,048 (GRCm39) missense probably damaging 0.99
IGL02630:Tc2n APN 12 101,659,404 (GRCm39) missense probably damaging 0.99
upbraided UTSW 12 101,617,460 (GRCm39) splice site probably null
R0517:Tc2n UTSW 12 101,615,454 (GRCm39) missense probably damaging 0.98
R0980:Tc2n UTSW 12 101,644,835 (GRCm39) nonsense probably null
R1676:Tc2n UTSW 12 101,655,251 (GRCm39) missense probably damaging 1.00
R2187:Tc2n UTSW 12 101,672,803 (GRCm39) missense probably damaging 1.00
R3771:Tc2n UTSW 12 101,660,833 (GRCm39) missense possibly damaging 0.68
R4082:Tc2n UTSW 12 101,617,414 (GRCm39) missense possibly damaging 0.85
R4180:Tc2n UTSW 12 101,631,954 (GRCm39) missense probably damaging 1.00
R4707:Tc2n UTSW 12 101,660,832 (GRCm39) missense probably benign 0.16
R4793:Tc2n UTSW 12 101,617,376 (GRCm39) missense possibly damaging 0.86
R4917:Tc2n UTSW 12 101,631,954 (GRCm39) missense probably damaging 1.00
R5214:Tc2n UTSW 12 101,659,461 (GRCm39) nonsense probably null
R5870:Tc2n UTSW 12 101,619,111 (GRCm39) missense probably damaging 1.00
R6034:Tc2n UTSW 12 101,617,460 (GRCm39) splice site probably null
R6034:Tc2n UTSW 12 101,617,460 (GRCm39) splice site probably null
R6128:Tc2n UTSW 12 101,675,748 (GRCm39) start codon destroyed probably null 0.99
R7200:Tc2n UTSW 12 101,655,314 (GRCm39) missense probably damaging 1.00
R7469:Tc2n UTSW 12 101,631,934 (GRCm39) missense probably damaging 1.00
R7471:Tc2n UTSW 12 101,672,716 (GRCm39) missense probably damaging 0.99
R7836:Tc2n UTSW 12 101,619,112 (GRCm39) missense possibly damaging 0.51
R8432:Tc2n UTSW 12 101,615,363 (GRCm39) missense probably benign 0.00
R8435:Tc2n UTSW 12 101,615,376 (GRCm39) nonsense probably null
R8530:Tc2n UTSW 12 101,617,444 (GRCm39) missense possibly damaging 0.52
R8669:Tc2n UTSW 12 101,660,851 (GRCm39) missense probably damaging 1.00
R9684:Tc2n UTSW 12 101,660,818 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- CACACAGAGATGTATCAGGAAGAATTC -3'
(R):5'- ACAGCAATTATTTGGAAAGTGTGGC -3'

Sequencing Primer
(F):5'- TTCAAGGTAACATCTACTAACCTGGC -3'
(R):5'- TGGAAAGTGTGGCAAAAGTTTTG -3'
Posted On 2019-11-12