Incidental Mutation 'R4553:Dppa2'
ID 341793
Institutional Source Beutler Lab
Gene Symbol Dppa2
Ensembl Gene ENSMUSG00000072419
Gene Name developmental pluripotency associated 2
Synonyms ECAT15-2, 2410088E07Rik
MMRRC Submission 041595-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R4553 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 48130637-48139876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48130877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 3 (Y3C)
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: Y3C

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110183
Gene: ENSMUSG00000072419
AA Change: Y3C

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: Y3C

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik T C 5: 114,951,254 (GRCm39) Y49C probably damaging Het
Adat1 T C 8: 112,716,912 (GRCm39) T32A probably damaging Het
Adra2a T C 19: 54,035,166 (GRCm39) V174A possibly damaging Het
Armcx5 T A X: 134,647,256 (GRCm39) V444D probably damaging Het
Cand2 C A 6: 115,769,172 (GRCm39) R661S probably damaging Het
Cd274 T C 19: 29,357,848 (GRCm39) V180A probably benign Het
Crat T C 2: 30,298,229 (GRCm39) T157A probably benign Het
Cts6 G A 13: 61,345,407 (GRCm39) P230L probably damaging Het
Epgn A T 5: 91,175,421 (GRCm39) K14* probably null Het
Garin1a A G 6: 29,287,705 (GRCm39) I210M probably benign Het
Gsap A T 5: 21,495,569 (GRCm39) D79V probably damaging Het
Hgfac T A 5: 35,200,200 (GRCm39) C130S probably damaging Het
Ifi35 T C 11: 101,348,717 (GRCm39) V188A probably damaging Het
Iqsec2 A G X: 150,994,277 (GRCm39) H585R probably benign Het
Itih4 T C 14: 30,622,910 (GRCm39) L842P probably damaging Het
Kif3a C A 11: 53,469,745 (GRCm39) L119I possibly damaging Het
Lrp2 T C 2: 69,343,629 (GRCm39) D910G probably benign Het
Lyve1 T C 7: 110,451,567 (GRCm39) probably null Het
Mtss2 A G 8: 111,465,137 (GRCm39) T464A probably damaging Het
Mx2 A G 16: 97,353,205 (GRCm39) T398A possibly damaging Het
Nlrp4e T C 7: 23,020,404 (GRCm39) M297T probably benign Het
Nog A G 11: 89,192,248 (GRCm39) L200P probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Phf11b G A 14: 59,578,734 (GRCm39) P11S probably benign Het
Plcb1 T C 2: 135,177,413 (GRCm39) S582P probably benign Het
Pld1 G T 3: 28,178,851 (GRCm39) R915L probably benign Het
Sell C T 1: 163,899,685 (GRCm39) T34I probably benign Het
Slc34a1 G A 13: 55,559,874 (GRCm39) probably null Het
Slc8b1 T C 5: 120,667,663 (GRCm39) V432A probably damaging Het
Tipin T A 9: 64,195,385 (GRCm39) probably null Het
Vmn1r117 A T 7: 20,617,517 (GRCm39) F177Y probably damaging Het
Xab2 T C 8: 3,661,015 (GRCm39) T700A probably benign Het
Other mutations in Dppa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Dppa2 APN 16 48,132,049 (GRCm39) missense possibly damaging 0.93
IGL01365:Dppa2 APN 16 48,134,276 (GRCm39) missense possibly damaging 0.83
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
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
Predicted Primers PCR Primer
(F):5'- TATCTACTGAGACCCAGAGAACTG -3'
(R):5'- TCCCAGGAAATACATAGTGTCAAAC -3'

Sequencing Primer
(F):5'- TGAGACCCAGAGAACTGATAAAATC -3'
(R):5'- ATACATAGTGTCAAACGTGTGTGTG -3'
Posted On 2015-09-24