Incidental Mutation 'R0584:Dppa3'
ID 56552
Institutional Source Beutler Lab
Gene Symbol Dppa3
Ensembl Gene ENSMUSG00000046323
Gene Name developmental pluripotency-associated 3
Synonyms 2410075G02Rik, stella, PGC7
MMRRC Submission 038774-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R0584 (G1)
Quality Score 163
Status Validated
Chromosome 6
Chromosomal Location 122603383-122607230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122606951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 147 (I147T)
Ref Sequence ENSEMBL: ENSMUSP00000062832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049644]
AlphaFold Q8QZY3
Predicted Effect probably benign
Transcript: ENSMUST00000049644
AA Change: I147T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000062832
Gene: ENSMUSG00000046323
AA Change: I147T

DomainStartEndE-ValueType
Pfam:PGC7_Stella 1 149 1e-37 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000123429
AA Change: I137T
SMART Domains Protein: ENSMUSP00000115252
Gene: ENSMUSG00000046323
AA Change: I137T

DomainStartEndE-ValueType
Pfam:PGC7_Stella 11 140 2.6e-24 PFAM
Meta Mutation Damage Score 0.1043 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 93.7%
Validation Efficiency 98% (47/48)
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
Abca7 T C 10: 79,847,564 (GRCm39) S1745P probably damaging Het
Agfg2 G A 5: 137,665,992 (GRCm39) T89I probably damaging Het
Agtr1a A G 13: 30,565,017 (GRCm39) I27M probably damaging Het
Armh1 A T 4: 117,087,047 (GRCm39) L206Q probably damaging Het
Asxl2 A T 12: 3,546,632 (GRCm39) E472V probably damaging Het
Atp2c2 T A 8: 120,465,157 (GRCm39) V313E probably benign Het
Casp12 A G 9: 5,352,268 (GRCm39) I87V probably null Het
Ccl25 C T 8: 4,404,085 (GRCm39) probably benign Het
Col9a1 T C 1: 24,263,571 (GRCm39) probably benign Het
Cyth4 A G 15: 78,494,078 (GRCm39) probably null Het
Dnah9 A G 11: 65,881,315 (GRCm39) Y2587H probably damaging Het
Fam120b T C 17: 15,622,384 (GRCm39) S121P probably damaging Het
Fam209 C T 2: 172,316,081 (GRCm39) T152M probably benign Het
Fam98a A G 17: 75,851,772 (GRCm39) L103P probably damaging Het
Fcho1 T C 8: 72,168,369 (GRCm39) Y218C probably damaging Het
Fitm1 T C 14: 55,814,113 (GRCm39) V203A probably benign Het
Gcn1 G A 5: 115,733,074 (GRCm39) R1037Q probably damaging Het
Gm11563 A G 11: 99,549,451 (GRCm39) I101T unknown Het
Gpd1l A G 9: 114,743,412 (GRCm39) F163L probably damaging Het
Grp C A 18: 66,006,766 (GRCm39) A30E possibly damaging Het
H1f7 C A 15: 98,154,958 (GRCm39) E64* probably null Het
Icosl T C 10: 77,907,709 (GRCm39) Y90H possibly damaging Het
Itsn2 A G 12: 4,747,180 (GRCm39) T1194A probably benign Het
Lrp6 A G 6: 134,433,039 (GRCm39) S1431P probably damaging Het
Ltbp1 T C 17: 75,670,467 (GRCm39) S1503P probably damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Myh13 G T 11: 67,251,200 (GRCm39) E1360* probably null Het
Nop58 A G 1: 59,745,919 (GRCm39) D400G probably benign Het
Or5p79 T C 7: 108,221,622 (GRCm39) L201P probably benign Het
Or6c205 T C 10: 129,086,817 (GRCm39) V138A probably benign Het
Oscp1 A G 4: 125,977,387 (GRCm39) probably null Het
Pde9a A T 17: 31,678,951 (GRCm39) Y264F probably damaging Het
Pkhd1 T A 1: 20,309,660 (GRCm39) K2763* probably null Het
Prkci T A 3: 31,079,289 (GRCm39) C42* probably null Het
Ptprr T C 10: 116,087,063 (GRCm39) V270A probably damaging Het
Rsf1 T A 7: 97,311,335 (GRCm39) N688K possibly damaging Het
S1pr3 A T 13: 51,573,697 (GRCm39) M293L probably benign Het
Scn10a A C 9: 119,499,597 (GRCm39) L232R probably damaging Het
Sirt5 T A 13: 43,548,204 (GRCm39) probably null Het
Sp6 C T 11: 96,913,091 (GRCm39) T268M probably damaging Het
Spag5 A G 11: 78,194,921 (GRCm39) N76S possibly damaging Het
Tecta T C 9: 42,259,204 (GRCm39) N1560D possibly damaging Het
Togaram1 T C 12: 65,014,279 (GRCm39) L510P probably damaging Het
Umps A G 16: 33,779,494 (GRCm39) I401T probably damaging Het
Vars2 A G 17: 35,977,578 (GRCm39) V118A possibly 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
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
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'- CCCAGGAAGTCTGGTTATTGAAGCAGT -3'
(R):5'- CTGGCAGCAAGCTTTACCCCT -3'

Sequencing Primer
(F):5'- TTTGAACGGGACAGTGAGCC -3'
(R):5'- TCTAGAACTGTTACAGTAGCCCC -3'
Posted On 2013-07-11