Incidental Mutation 'R6081:Dppa3'
ID 482918
Institutional Source Beutler Lab
Gene Symbol Dppa3
Ensembl Gene ENSMUSG00000046323
Gene Name developmental pluripotency-associated 3
Synonyms 2410075G02Rik, stella, PGC7
MMRRC Submission 044240-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R6081 (G1)
Quality Score 161.009
Status Not validated
Chromosome 6
Chromosomal Location 122603383-122607230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122606931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 140 (D140E)
Ref Sequence ENSEMBL: ENSMUSP00000062832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049644]
AlphaFold Q8QZY3
Predicted Effect probably damaging
Transcript: ENSMUST00000049644
AA Change: D140E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062832
Gene: ENSMUSG00000046323
AA Change: D140E

DomainStartEndE-ValueType
Pfam:PGC7_Stella 1 149 1e-37 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000123429
AA Change: D130E
SMART Domains Protein: ENSMUSP00000115252
Gene: ENSMUSG00000046323
AA Change: D130E

DomainStartEndE-ValueType
Pfam:PGC7_Stella 11 140 2.6e-24 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,887,097 (GRCm39) M33K probably damaging Het
4930556J24Rik T C 11: 3,888,140 (GRCm39) Q82R unknown Het
Adcy9 T C 16: 4,112,545 (GRCm39) D714G probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ahctf1 G T 1: 179,609,237 (GRCm39) A639E probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Anxa5 C T 3: 36,519,436 (GRCm39) D18N probably damaging Het
Apc C T 18: 34,423,164 (GRCm39) P299L possibly damaging Het
Btnl4 C A 17: 34,693,210 (GRCm39) W68C probably damaging Het
Cmya5 T A 13: 93,281,021 (GRCm39) probably benign Het
Cstf2t G T 19: 31,060,523 (GRCm39) V20L probably benign Het
D630045J12Rik A T 6: 38,119,633 (GRCm39) V1703E probably damaging Het
Dhx32 A G 7: 133,323,941 (GRCm39) F535S probably damaging Het
Diras2 T C 13: 52,662,181 (GRCm39) D42G probably damaging Het
Gpr180 C T 14: 118,391,086 (GRCm39) T205I probably benign Het
Gzme T G 14: 56,355,764 (GRCm39) T183P possibly damaging Het
H2-T23 T A 17: 36,342,707 (GRCm39) I144F possibly damaging Het
Hlx T C 1: 184,459,894 (GRCm39) S415G probably benign Het
Krtap5-3 G A 7: 141,755,223 (GRCm39) C20Y unknown Het
Mcm8 G T 2: 132,670,003 (GRCm39) R359L probably benign Het
Mroh2b G C 15: 4,973,859 (GRCm39) E1126Q probably damaging Het
Nav1 C T 1: 135,398,560 (GRCm39) R674H probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Rnaset2b T A 17: 7,256,193 (GRCm39) probably null Het
Samd12 T C 15: 53,583,074 (GRCm39) K87E probably benign Het
Sec16b T C 1: 157,388,324 (GRCm39) S564P probably benign Het
Speer4a1 A T 5: 26,239,960 (GRCm39) C263* probably null Het
Susd1 C A 4: 59,411,359 (GRCm39) C158F possibly damaging Het
Vmn2r6 C T 3: 64,463,953 (GRCm39) V294M probably benign 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
R7219:Dppa3 UTSW 6 122,606,918 (GRCm39) missense probably damaging 0.99
R8703:Dppa3 UTSW 6 122,605,737 (GRCm39) missense probably damaging 0.98
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'- ACTCTTAATGCATGGGTGGG -3'
(R):5'- GGATCGTTGTGCATCCTATCTAC -3'

Sequencing Primer
(F):5'- ACTAGGAATGTGTCTGGGGAG -3'
(R):5'- TGTGCATCCTATCTACAATTTAAAGG -3'
Posted On 2017-07-14