Incidental Mutation 'IGL03331:Dppa2'
ID 416886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dppa2
Ensembl Gene ENSMUSG00000072419
Gene Name developmental pluripotency associated 2
Synonyms ECAT15-2, 2410088E07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL03331
Quality Score
Status
Chromosome 16
Chromosomal Location 48130637-48139876 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 48134242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097175] [ENSMUST00000232448]
AlphaFold Q9CWH0
Predicted Effect probably benign
Transcript: ENSMUST00000097175
SMART Domains Protein: ENSMUSP00000110183
Gene: ENSMUSG00000072419

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 probably benign
Transcript: ENSMUST00000232448
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 C A 14: 78,751,305 (GRCm39) D361Y probably damaging Het
Arhgap10 T C 8: 78,146,711 (GRCm39) N231S probably damaging Het
Asb15 A T 6: 24,556,523 (GRCm39) D6V possibly damaging Het
C1qb G A 4: 136,607,604 (GRCm39) A253V probably damaging Het
Ccdc178 G T 18: 21,944,640 (GRCm39) probably null Het
Chst15 A G 7: 131,864,442 (GRCm39) L387P probably damaging Het
Clca3b T A 3: 144,533,724 (GRCm39) E550D probably benign Het
Dnah5 A G 15: 28,420,086 (GRCm39) K3795E probably damaging Het
Epb41l5 T C 1: 119,545,149 (GRCm39) Y220C probably damaging Het
Fkbpl C T 17: 34,864,661 (GRCm39) T143I probably damaging Het
Gbe1 T G 16: 70,230,466 (GRCm39) Y155D probably damaging Het
Gm1979 T C 5: 26,207,008 (GRCm39) K69R probably damaging Het
Gna14 G A 19: 16,586,832 (GRCm39) V336M probably damaging Het
Gpr37 A G 6: 25,669,728 (GRCm39) V372A probably benign Het
H2bc12 T C 13: 22,220,443 (GRCm39) probably benign Het
Herc2 C A 7: 55,785,015 (GRCm39) probably benign Het
Krt20 T C 11: 99,326,256 (GRCm39) probably null Het
Lman1 T C 18: 66,126,275 (GRCm39) T284A probably benign Het
Matn2 A T 15: 34,345,503 (GRCm39) D170V probably damaging Het
Morc1 C A 16: 48,432,731 (GRCm39) probably benign Het
Necap1 T A 6: 122,857,376 (GRCm39) S34T probably benign Het
Nt5c3b T C 11: 100,327,041 (GRCm39) Y85C probably damaging Het
Or2t6 C A 14: 14,176,017 (GRCm38) A22S probably benign Het
Or5b102 T A 19: 13,041,231 (GRCm39) L152H probably damaging Het
Papln A G 12: 83,830,435 (GRCm39) M1016V probably benign Het
Pld1 T C 3: 28,139,994 (GRCm39) F605L probably damaging Het
Rbms2 T A 10: 127,969,504 (GRCm39) probably benign Het
Rps6kb1 A T 11: 86,423,656 (GRCm39) V108E probably damaging Het
Scap T C 9: 110,209,304 (GRCm39) probably null Het
Serpina1f T C 12: 103,657,150 (GRCm39) I307M probably benign Het
Tchh A G 3: 93,350,725 (GRCm39) D55G probably damaging Het
Tnfaip3 G T 10: 18,887,349 (GRCm39) Q59K possibly damaging Het
Vcan A G 13: 89,810,051 (GRCm39) C2287R probably damaging Het
Vmn2r6 T C 3: 64,445,428 (GRCm39) N766D probably damaging 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
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
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
Posted On 2016-08-02