Incidental Mutation 'IGL03238:Ppdpf'
ID 414185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppdpf
Ensembl Gene ENSMUSG00000016344
Gene Name pancreatic progenitor cell differentiation and proliferation factor
Synonyms 2700038C09Rik, 0610012G23Rik, 3110053G12Rik, 2610317A05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03238
Quality Score
Status
Chromosome 2
Chromosomal Location 180829040-180830564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180829673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 43 (S43P)
Ref Sequence ENSEMBL: ENSMUSP00000104469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016488] [ENSMUST00000108841]
AlphaFold Q9CR37
Predicted Effect probably benign
Transcript: ENSMUST00000016488
AA Change: S43P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000016488
Gene: ENSMUSG00000016344
AA Change: S43P

DomainStartEndE-ValueType
Pfam:PPDFL 1 111 4.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108841
AA Change: S43P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104469
Gene: ENSMUSG00000016344
AA Change: S43P

DomainStartEndE-ValueType
Pfam:PPDFL 1 112 1.1e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135011
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146089
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 59,932,339 (GRCm39) T285P probably benign Het
Abcf1 T C 17: 36,274,215 (GRCm39) K186E probably damaging Het
Adam3 T C 8: 25,177,981 (GRCm39) probably null Het
Art1 T C 7: 101,759,956 (GRCm39) V85A possibly damaging Het
Ccdc110 A G 8: 46,394,859 (GRCm39) H250R probably benign Het
Cyp3a13 T A 5: 137,897,151 (GRCm39) I388F probably damaging Het
Dnah11 C T 12: 118,073,633 (GRCm39) V1425M probably damaging Het
Donson G A 16: 91,478,134 (GRCm39) Q22* probably null Het
Eif2b2 A G 12: 85,270,173 (GRCm39) T238A probably benign Het
Emc2 T A 15: 43,371,249 (GRCm39) probably null Het
Fkbp4 A T 6: 128,411,720 (GRCm39) V123E probably damaging Het
Frem2 A T 3: 53,563,682 (GRCm39) M275K possibly damaging Het
Gcat T A 15: 78,920,210 (GRCm39) probably benign Het
Gemin2 G A 12: 59,063,748 (GRCm39) probably benign Het
Ilf3 T A 9: 21,303,646 (GRCm39) V169E probably damaging Het
Klra17 T C 6: 129,845,773 (GRCm39) H147R probably benign Het
Lama5 A G 2: 179,830,367 (GRCm39) I1880T probably benign Het
Lzts1 T C 8: 69,591,446 (GRCm39) D234G probably damaging Het
Map3k4 G A 17: 12,490,045 (GRCm39) P462L probably benign Het
Marchf6 C A 15: 31,462,087 (GRCm39) probably benign Het
Mcm6 A T 1: 128,283,257 (GRCm39) F83I probably benign Het
Mtpn A G 6: 35,499,708 (GRCm39) L32P probably damaging Het
Mybpc3 A T 2: 90,962,004 (GRCm39) I841F probably damaging Het
Ndst2 G T 14: 20,778,572 (GRCm39) H399N probably damaging Het
Npat G T 9: 53,481,726 (GRCm39) V1145F probably damaging Het
Or51b6 G A 7: 103,555,717 (GRCm39) A21T probably benign Het
P2ry1 T A 3: 60,911,916 (GRCm39) S352T probably damaging Het
Plaa T C 4: 94,472,133 (GRCm39) T326A probably benign Het
Prb1b T A 6: 132,289,308 (GRCm39) Q172L unknown Het
Setd1a C T 7: 127,384,718 (GRCm39) T523I possibly damaging Het
Sgcz C T 8: 38,030,294 (GRCm39) probably null Het
Slc12a2 T C 18: 58,047,306 (GRCm39) Y740H possibly damaging Het
Stab2 A G 10: 86,690,985 (GRCm39) C745R probably damaging Het
Tmem101 A T 11: 102,046,611 (GRCm39) L86Q probably damaging Het
Tmtc3 A C 10: 100,313,702 (GRCm39) F57V probably damaging Het
Vps50 A G 6: 3,594,771 (GRCm39) K778R possibly damaging Het
Washc5 G A 15: 59,218,691 (GRCm39) T692M probably damaging Het
Zc3hav1 A T 6: 38,309,685 (GRCm39) V379D probably damaging Het
Zfp142 G T 1: 74,615,437 (GRCm39) R459S probably benign Het
Zfp512b A G 2: 181,231,553 (GRCm39) V199A probably damaging Het
Other mutations in Ppdpf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Ppdpf APN 2 180,829,687 (GRCm39) splice site probably benign
IGL03240:Ppdpf APN 2 180,829,673 (GRCm39) missense probably benign
IGL03384:Ppdpf APN 2 180,829,673 (GRCm39) missense probably benign
R3917:Ppdpf UTSW 2 180,829,521 (GRCm39) missense probably benign 0.19
R6148:Ppdpf UTSW 2 180,829,641 (GRCm39) missense probably benign 0.01
R7134:Ppdpf UTSW 2 180,829,523 (GRCm39) missense probably damaging 1.00
R7950:Ppdpf UTSW 2 180,829,650 (GRCm39) missense probably benign 0.02
R8790:Ppdpf UTSW 2 180,829,646 (GRCm39) nonsense probably null
R9608:Ppdpf UTSW 2 180,829,668 (GRCm39) missense probably benign
Posted On 2016-08-02