Incidental Mutation 'R8703:Dppa3'
ID 669148
Institutional Source Beutler Lab
Gene Symbol Dppa3
Ensembl Gene ENSMUSG00000046323
Gene Name developmental pluripotency-associated 3
Synonyms 2410075G02Rik, stella, PGC7
MMRRC Submission 068557-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R8703 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 122603383-122607230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122605737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 97 (D97V)
Ref Sequence ENSEMBL: ENSMUSP00000062832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049644]
AlphaFold Q8QZY3
Predicted Effect probably damaging
Transcript: ENSMUST00000049644
AA Change: D97V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062832
Gene: ENSMUSG00000046323
AA Change: D97V

DomainStartEndE-ValueType
Pfam:PGC7_Stella 1 149 1e-37 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000115252
Gene: ENSMUSG00000046323
AA Change: D87V

DomainStartEndE-ValueType
Pfam:PGC7_Stella 11 140 2.6e-24 PFAM
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (44/44)
MGI Phenotype PHENOTYPE: Female mice homozygous for a disruption in this gene are infertile or have reduced fertility due to a failure in embryonic development at or before implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,676,792 (GRCm39) T2013I probably damaging Het
Ak9 A T 10: 41,201,120 (GRCm39) N137Y Het
Apol10b T A 15: 77,472,897 (GRCm39) E52D probably damaging Het
Calr3 A T 8: 73,192,291 (GRCm39) Y128N probably damaging Het
Dnah14 T A 1: 181,493,576 (GRCm39) L1669* probably null Het
Dync1li1 C A 9: 114,552,329 (GRCm39) P490T probably damaging Het
Eya4 A G 10: 23,039,340 (GRCm39) S85P probably benign Het
Fpr-rs4 T A 17: 18,242,332 (GRCm39) I113N probably damaging Het
Fryl T C 5: 73,247,997 (GRCm39) D1040G probably damaging Het
Fsip2 A T 2: 82,821,871 (GRCm39) D5868V probably damaging Het
Gpr75 A C 11: 30,841,890 (GRCm39) Q265P probably damaging Het
Iqcm G T 8: 76,615,271 (GRCm39) G451C probably damaging Het
Lgr5 A G 10: 115,288,610 (GRCm39) L678P probably benign Het
Mcm9 G A 10: 53,506,073 (GRCm39) P67L probably damaging Het
Naalad2 A C 9: 18,290,008 (GRCm39) Y207D probably damaging Het
Nrap C T 19: 56,323,703 (GRCm39) D1325N probably damaging Het
Nup133 A G 8: 124,643,021 (GRCm39) probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or4b1b T A 2: 90,126,837 (GRCm39) I123F probably damaging Het
Or8k28 C A 2: 86,286,244 (GRCm39) V124L possibly damaging Het
Or9i14 G T 19: 13,792,105 (GRCm39) P283H probably damaging Het
Per2 T A 1: 91,351,767 (GRCm39) N913I possibly damaging Het
Rab9 C T X: 165,240,754 (GRCm39) D186N probably benign Het
Reps1 C T 10: 17,968,990 (GRCm39) R183C probably damaging Het
Rims1 A T 1: 22,496,137 (GRCm39) C134S Het
Rpl10-ps3 A G 9: 50,256,184 (GRCm39) S20P probably benign Het
Sash1 C A 10: 8,605,595 (GRCm39) G932C probably damaging Het
Sema4d T C 13: 51,854,959 (GRCm39) Q46R Het
Sh3d19 A G 3: 86,014,568 (GRCm39) E453G probably damaging Het
Sirt6 A G 10: 81,461,548 (GRCm39) probably benign Het
Sis A T 3: 72,867,657 (GRCm39) F129L probably damaging Het
Skint5 T A 4: 113,733,207 (GRCm39) I399F unknown Het
Slc22a7 T C 17: 46,744,951 (GRCm39) D365G probably damaging Het
Slc6a12 A G 6: 121,324,447 (GRCm39) M38V probably benign Het
Slc9b2 C A 3: 135,031,924 (GRCm39) Y261* probably null Het
Spata21 A G 4: 140,832,218 (GRCm39) I460V probably benign Het
Tes C G 6: 17,099,788 (GRCm39) P261R probably damaging Het
Tex15 T C 8: 34,062,724 (GRCm39) L718P probably benign Het
Tmem135 G A 7: 88,808,170 (GRCm39) A202V probably benign Het
Usp29 T C 7: 6,964,321 (GRCm39) F55L probably benign Het
Usp9y A G Y: 1,356,317 (GRCm39) L1128P probably damaging Het
Zdhhc5 T C 2: 84,520,596 (GRCm39) E527G probably benign Het
Zfand4 A G 6: 116,250,604 (GRCm39) I11M probably damaging Het
Zfp110 T A 7: 12,582,888 (GRCm39) I512K probably benign Het
Zfp638 T A 6: 83,954,143 (GRCm39) F1416Y probably damaging Het
Other mutations in Dppa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0464:Dppa3 UTSW 6 122,605,492 (GRCm39) splice site probably null
R0525:Dppa3 UTSW 6 122,606,939 (GRCm39) missense probably damaging 0.99
R0584:Dppa3 UTSW 6 122,606,951 (GRCm39) missense probably benign 0.00
R0665:Dppa3 UTSW 6 122,606,939 (GRCm39) missense probably damaging 0.99
R4230:Dppa3 UTSW 6 122,606,291 (GRCm39) missense probably damaging 1.00
R4544:Dppa3 UTSW 6 122,603,726 (GRCm39) intron probably benign
R5085:Dppa3 UTSW 6 122,606,891 (GRCm39) missense probably damaging 1.00
R6081:Dppa3 UTSW 6 122,606,931 (GRCm39) missense probably damaging 0.98
R7219:Dppa3 UTSW 6 122,606,918 (GRCm39) missense probably damaging 0.99
R8867:Dppa3 UTSW 6 122,605,602 (GRCm39) missense probably benign
R9007:Dppa3 UTSW 6 122,605,724 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTTCAGACGTCCTACAACCAG -3'
(R):5'- CCTGACTGCTTAGAGGATAGCC -3'

Sequencing Primer
(F):5'- CCAGAAACACTAGTAAAGGTCATG -3'
(R):5'- AGGATAGCCTTGGAACTCTATTCTC -3'
Posted On 2021-04-30