Incidental Mutation 'R6638:Dppa2'
ID 525617
Institutional Source Beutler Lab
Gene Symbol Dppa2
Ensembl Gene ENSMUSG00000072419
Gene Name developmental pluripotency associated 2
Synonyms ECAT15-2, 2410088E07Rik
MMRRC Submission 044759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R6638 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 48130637-48139876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48134523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 118 (H118L)
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: H118L

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110183
Gene: ENSMUSG00000072419
AA Change: H118L

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: H118L

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,451,521 (GRCm39) N868K probably benign Het
Cep112 T C 11: 108,746,696 (GRCm39) S980P probably damaging Het
Dlk1 A G 12: 109,426,204 (GRCm39) E95G probably damaging Het
Dnah6 A T 6: 73,012,263 (GRCm39) probably null Het
Eif4enif1 T C 11: 3,192,463 (GRCm39) S740P probably damaging Het
Eva1b T C 4: 126,043,265 (GRCm39) S102P probably benign Het
Fndc3a G A 14: 72,796,688 (GRCm39) R637* probably null Het
Fras1 A T 5: 96,905,953 (GRCm39) D3119V possibly damaging Het
Hmgcr T C 13: 96,795,490 (GRCm39) T360A probably benign Het
Kif21a A G 15: 90,850,610 (GRCm39) V1017A probably damaging Het
Lats2 A G 14: 57,936,822 (GRCm39) S556P probably damaging Het
Lrrc7 A G 3: 157,840,940 (GRCm39) F1366S probably benign Het
Mtmr2 C A 9: 13,707,429 (GRCm39) A327E probably damaging Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Or9r3 T C 10: 129,947,739 (GRCm39) T307A probably benign Het
Ovch2 A T 7: 107,388,301 (GRCm39) H426Q probably benign Het
Plxna1 A T 6: 89,301,382 (GRCm39) V1506E probably damaging Het
Poldip3 A T 15: 83,017,401 (GRCm39) S225T probably damaging Het
Polr3h A G 15: 81,802,505 (GRCm39) L108P possibly damaging Het
Prss44 G A 9: 110,646,271 (GRCm39) V333M probably damaging Het
Ptprk C T 10: 28,471,807 (GRCm39) R1432C probably damaging Het
Rpl36al A G 12: 69,229,708 (GRCm39) L68P probably damaging Het
Tagap T C 17: 8,145,906 (GRCm39) S26P possibly damaging Het
Vapb A G 2: 173,613,362 (GRCm39) K87R probably damaging Het
Vmn1r35 G A 6: 66,655,848 (GRCm39) T274I possibly damaging Het
Wdsub1 A T 2: 59,700,785 (GRCm39) probably benign Het
Xrcc5 C T 1: 72,422,521 (GRCm39) S651L possibly damaging Het
Zfyve27 T A 19: 42,169,936 (GRCm39) probably null 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
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
R7060:Dppa2 UTSW 16 48,136,076 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGCCTCCTATTAGGGACGTGTC -3'
(R):5'- AGAGACCTTTTCCAGACATCC -3'

Sequencing Primer
(F):5'- GTGTCCCGGAACACTCTTCG -3'
(R):5'- GGCACACATCTTTAATCTCAGGAGG -3'
Posted On 2018-06-22