Incidental Mutation 'IGL01365:Dppa2'
ID 75906
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dppa2
Ensembl Gene ENSMUSG00000072419
Gene Name developmental pluripotency associated 2
Synonyms ECAT15-2, 2410088E07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # IGL01365
Quality Score
Status
Chromosome 16
Chromosomal Location 48130637-48139876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48134276 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CWH0
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
Abtb3 T C 10: 85,469,680 (GRCm39) V867A possibly damaging Het
Adgre5 G T 8: 84,450,518 (GRCm39) probably null Het
Agtr1a A G 13: 30,565,811 (GRCm39) Y292C probably damaging Het
CK137956 A G 4: 127,845,135 (GRCm39) S203P probably benign Het
Cnbd1 C T 4: 18,860,576 (GRCm39) G390D probably damaging Het
Cttnbp2nl T C 3: 104,912,346 (GRCm39) T513A probably damaging Het
Kif3a A G 11: 53,484,350 (GRCm39) K486E possibly damaging Het
Lmnb2 G T 10: 80,740,818 (GRCm39) Q151K probably benign Het
Lmtk3 T A 7: 45,440,331 (GRCm39) L223Q probably damaging Het
Lrrk1 A G 7: 65,937,449 (GRCm39) I901T probably damaging Het
Macf1 T C 4: 123,284,962 (GRCm39) Y3624C probably damaging Het
Mios T A 6: 8,216,089 (GRCm39) Y428* probably null Het
Myb A G 10: 21,028,401 (GRCm39) I154T probably benign Het
Or14a256 T C 7: 86,265,205 (GRCm39) Y216C probably damaging Het
Parp9 C T 16: 35,768,324 (GRCm39) T168I possibly damaging Het
Pramel7 T C 2: 87,321,757 (GRCm39) probably benign Het
Ptar1 T A 19: 23,683,165 (GRCm39) W140R probably damaging Het
Sec14l2 G T 11: 4,048,317 (GRCm39) D400E probably benign Het
Setd3 A T 12: 108,124,165 (GRCm39) Y175N probably damaging Het
Slc5a8 C T 10: 88,727,959 (GRCm39) probably benign Het
Slc8a3 A G 12: 81,362,150 (GRCm39) V223A probably damaging Het
Srsf1 G T 11: 87,940,007 (GRCm39) R173L possibly damaging Het
Svep1 T A 4: 58,100,878 (GRCm39) probably null Het
Tead2 T A 7: 44,866,675 (GRCm39) D11E probably damaging Het
Trappc12 T A 12: 28,797,401 (GRCm39) I44F probably damaging Het
Ttll9 T C 2: 152,842,054 (GRCm39) Y303H possibly damaging Het
Vmn1r28 T A 6: 58,242,176 (GRCm39) N6K possibly damaging Het
Other mutations in Dppa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Dppa2 APN 16 48,132,049 (GRCm39) missense possibly damaging 0.93
IGL03279:Dppa2 APN 16 48,132,028 (GRCm39) missense possibly damaging 0.91
IGL03331:Dppa2 APN 16 48,134,242 (GRCm39) splice site probably benign
R0048:Dppa2 UTSW 16 48,137,761 (GRCm39) missense probably benign 0.02
R0549:Dppa2 UTSW 16 48,139,034 (GRCm39) missense probably benign 0.20
R1321:Dppa2 UTSW 16 48,131,999 (GRCm39) missense possibly damaging 0.72
R1826:Dppa2 UTSW 16 48,137,711 (GRCm39) missense probably damaging 0.98
R4553:Dppa2 UTSW 16 48,130,877 (GRCm39) missense possibly damaging 0.59
R5124:Dppa2 UTSW 16 48,131,986 (GRCm39) missense probably damaging 0.98
R5144:Dppa2 UTSW 16 48,137,666 (GRCm39) missense probably damaging 0.98
R5983:Dppa2 UTSW 16 48,136,204 (GRCm39) missense probably benign 0.03
R6638:Dppa2 UTSW 16 48,134,523 (GRCm39) missense possibly damaging 0.86
R7060:Dppa2 UTSW 16 48,136,076 (GRCm39) missense probably benign 0.02
Posted On 2013-10-07