Incidental Mutation 'IGL03279:Dppa2'
ID415529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dppa2
Ensembl Gene ENSMUSG00000072419
Gene Namedevelopmental pluripotency associated 2
Synonyms2410088E07Rik, ECAT15-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL03279
Quality Score
Status
Chromosome16
Chromosomal Location48303908-48319723 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 48311665 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 42 (T42A)
Ref Sequence ENSEMBL: ENSMUSP00000156143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097175] [ENSMUST00000232448]
Predicted Effect possibly damaging
Transcript: ENSMUST00000097175
AA Change: T42A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110183
Gene: ENSMUSG00000072419
AA Change: T42A

DomainStartEndE-ValueType
SAP 85 119 2.86e-1 SMART
Pfam:Dppa2_A 124 206 2.3e-34 PFAM
Pfam:DCR 211 277 4.7e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000232448
AA Change: T42A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T A 11: 120,013,678 D224V probably damaging Het
Abca4 C A 3: 122,141,732 N1526K probably benign Het
Aif1 T A 17: 35,171,547 K76* probably null Het
Arap2 A G 5: 62,621,910 S1446P probably damaging Het
Cyb5rl A T 4: 107,084,128 E250V possibly damaging Het
Dock3 T C 9: 106,911,248 probably benign Het
Drosha C T 15: 12,859,392 P562L probably benign Het
Egfl7 C A 2: 26,590,707 H126N probably benign Het
Gm5852 T C 3: 93,727,277 noncoding transcript Het
Gpr161 T C 1: 165,310,529 F228S probably damaging Het
Grid1 T A 14: 34,945,765 M83K probably damaging Het
Gsdma2 T C 11: 98,657,723 S434P unknown Het
Hao2 T A 3: 98,880,396 N239I possibly damaging Het
Hsd17b14 A T 7: 45,566,193 I206F possibly damaging Het
Kansl1l A T 1: 66,735,666 V667E probably damaging Het
Kdm3a T C 6: 71,611,675 D450G probably benign Het
Lmo7 C A 14: 101,900,508 A882E probably benign Het
P4ha3 A G 7: 100,300,686 Y254C probably damaging Het
Pcdh15 A G 10: 74,317,072 Y408C probably damaging Het
Pglyrp3 T C 3: 92,026,527 Y160H probably damaging Het
Pnma5 G A X: 73,035,999 T359I probably benign Het
Ptbp3 A T 4: 59,476,937 H440Q possibly damaging Het
Rbx1 A G 15: 81,468,198 N41S probably damaging Het
Rpl3 G A 15: 80,078,359 T340I probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Sema6a A T 18: 47,300,090 C91* probably null Het
Slco6d1 T A 1: 98,466,680 V363E probably damaging Het
Stk38 A G 17: 28,984,205 probably benign Het
Tanc2 G A 11: 105,913,092 probably null Het
Thada A G 17: 84,435,560 F812S probably benign Het
Tubb4b-ps1 A G 5: 7,179,630 probably benign Het
Veph1 T C 3: 66,255,022 T72A probably damaging Het
Vps52 T A 17: 33,957,874 D67E probably damaging Het
Other mutations in Dppa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Dppa2 APN 16 48311686 missense possibly damaging 0.93
IGL01365:Dppa2 APN 16 48313913 missense possibly damaging 0.83
IGL03331:Dppa2 APN 16 48313879 splice site probably benign
R0048:Dppa2 UTSW 16 48317398 missense probably benign 0.02
R0549:Dppa2 UTSW 16 48318671 missense probably benign 0.20
R1321:Dppa2 UTSW 16 48311636 missense possibly damaging 0.72
R1826:Dppa2 UTSW 16 48317348 missense probably damaging 0.98
R4553:Dppa2 UTSW 16 48310514 missense possibly damaging 0.59
R5124:Dppa2 UTSW 16 48311623 missense probably damaging 0.98
R5144:Dppa2 UTSW 16 48317303 missense probably damaging 0.98
R5983:Dppa2 UTSW 16 48315841 missense probably benign 0.03
R6638:Dppa2 UTSW 16 48314160 missense possibly damaging 0.86
R7060:Dppa2 UTSW 16 48315713 missense probably benign 0.02
Posted On2016-08-02