Incidental Mutation 'IGL01365:Dppa2'
ID75906
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: 0.093) question?
Stock #IGL01365
Quality Score
Status
Chromosome16
Chromosomal Location48303908-48319723 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 48313913 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 67 (K67R)
Ref Sequence ENSEMBL: ENSMUSP00000156143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097175] [ENSMUST00000232448]
Predicted Effect possibly damaging
Transcript: ENSMUST00000097175
AA Change: K67R

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110183
Gene: ENSMUSG00000072419
AA Change: K67R

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: K67R

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 G T 8: 83,723,889 probably null Het
Agtr1a A G 13: 30,381,828 Y292C probably damaging Het
Btbd11 T C 10: 85,633,816 V867A possibly damaging Het
CK137956 A G 4: 127,951,342 S203P probably benign Het
Cnbd1 C T 4: 18,860,576 G390D probably damaging Het
Cttnbp2nl T C 3: 105,005,030 T513A probably damaging Het
Kif3a A G 11: 53,593,523 K486E possibly damaging Het
Lmnb2 G T 10: 80,904,984 Q151K probably benign Het
Lmtk3 T A 7: 45,790,907 L223Q probably damaging Het
Lrrk1 A G 7: 66,287,701 I901T probably damaging Het
Macf1 T C 4: 123,391,169 Y3624C probably damaging Het
Mios T A 6: 8,216,089 Y428* probably null Het
Myb A G 10: 21,152,502 I154T probably benign Het
Olfr294 T C 7: 86,615,997 Y216C probably damaging Het
Parp9 C T 16: 35,947,954 T168I possibly damaging Het
Pramel7 T C 2: 87,491,413 probably benign Het
Ptar1 T A 19: 23,705,801 W140R probably damaging Het
Sec14l2 G T 11: 4,098,317 D400E probably benign Het
Setd3 A T 12: 108,157,906 Y175N probably damaging Het
Slc5a8 C T 10: 88,892,097 probably benign Het
Slc8a3 A G 12: 81,315,376 V223A probably damaging Het
Srsf1 G T 11: 88,049,181 R173L possibly damaging Het
Svep1 T A 4: 58,100,878 probably null Het
Tead2 T A 7: 45,217,251 D11E probably damaging Het
Trappc12 T A 12: 28,747,402 I44F probably damaging Het
Ttll9 T C 2: 153,000,134 Y303H possibly damaging Het
Vmn1r28 T A 6: 58,265,191 N6K possibly damaging Het
Other mutations in Dppa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Dppa2 APN 16 48311686 missense possibly damaging 0.93
IGL03279:Dppa2 APN 16 48311665 missense possibly damaging 0.91
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 On2013-10-07