Incidental Mutation 'R6148:Ppdpf'
ID 488998
Institutional Source Beutler Lab
Gene Symbol Ppdpf
Ensembl Gene ENSMUSG00000016344
Gene Name pancreatic progenitor cell differentiation and proliferation factor
Synonyms 2700038C09Rik, 0610012G23Rik, 3110053G12Rik, 2610317A05Rik
MMRRC Submission 044295-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6148 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 180829040-180830564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 180829641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 32 (S32N)
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: S32N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000016488
Gene: ENSMUSG00000016344
AA Change: S32N

DomainStartEndE-ValueType
Pfam:PPDFL 1 111 4.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108841
AA Change: S32N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000104469
Gene: ENSMUSG00000016344
AA Change: S32N

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 95% (61/64)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,234,200 (GRCm39) C1067S possibly damaging Het
AAdacl4fm3 T C 4: 144,447,887 (GRCm39) T30A possibly damaging Het
Agbl3 T A 6: 34,834,688 (GRCm39) S952R possibly damaging Het
Ano9 A G 7: 140,686,698 (GRCm39) Y429H probably damaging Het
Bbs7 C A 3: 36,667,415 (GRCm39) R7L probably damaging Het
Birc2 T A 9: 7,849,684 (GRCm39) D535V possibly damaging Het
Catsper4 A G 4: 133,945,240 (GRCm39) V206A probably damaging Het
Ccdc73 T G 2: 104,822,482 (GRCm39) S810R possibly damaging Het
Cd177 A T 7: 24,443,698 (GRCm39) L800* probably null Het
Cd34 T C 1: 194,630,316 (GRCm39) probably null Het
Cep78 G A 19: 15,959,150 (GRCm39) R95* probably null Het
Cfap69 T C 5: 5,713,996 (GRCm39) D12G probably benign Het
Cpne7 A G 8: 123,854,171 (GRCm39) D286G probably benign Het
Cwc22 ATCTCTCTCTCTCTCTCT ATCTCTCTCTCTCTCT 2: 77,759,803 (GRCm39) probably null Het
Cxcl5 A T 5: 90,907,565 (GRCm39) I46L probably benign Het
Cyp19a1 C T 9: 54,087,540 (GRCm39) G59D probably damaging Het
Dclre1c A G 2: 3,438,742 (GRCm39) D35G probably damaging Het
Defa41 A G 8: 21,692,428 (GRCm39) N83S probably benign Het
Dvl1 A G 4: 155,939,409 (GRCm39) Y279C probably damaging Het
Fes A G 7: 80,030,044 (GRCm39) L578P probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fmn2 T C 1: 174,494,229 (GRCm39) S1248P probably damaging Het
Fmo1 T G 1: 162,679,088 (GRCm39) S53R probably damaging Het
Gabrg1 A T 5: 70,931,804 (GRCm39) M313K probably damaging Het
Galnt10 T C 11: 57,675,474 (GRCm39) C578R probably damaging Het
Gpr39 T C 1: 125,800,323 (GRCm39) V358A probably damaging Het
Gsap A G 5: 21,431,323 (GRCm39) R216G probably damaging Het
Gsap A T 5: 21,475,575 (GRCm39) T570S probably benign Het
Gucy2d A T 7: 98,093,030 (GRCm39) I136L probably benign Het
Hap1 A T 11: 100,240,218 (GRCm39) V294E probably damaging Het
Ipo8 A G 6: 148,701,278 (GRCm39) V514A probably damaging Het
Irf5 T C 6: 29,535,958 (GRCm39) L324P probably damaging Het
Itsn1 C T 16: 91,613,740 (GRCm39) R251C probably damaging Het
Klf11 T C 12: 24,701,567 (GRCm39) probably null Het
Kpna6 G A 4: 129,543,099 (GRCm39) Q439* probably null Het
Mark4 A T 7: 19,163,441 (GRCm39) S563T probably benign Het
Mrpl21 A T 19: 3,333,084 (GRCm39) I5L probably benign Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Myrf G A 19: 10,189,839 (GRCm39) T815I probably damaging Het
Olfr515-ps1 A T 7: 108,444,178 (GRCm39) probably null Het
Or10d4c G T 9: 39,558,555 (GRCm39) D178Y probably damaging Het
Or11g27 A G 14: 50,771,778 (GRCm39) N303S probably benign Het
Or4c15 C T 2: 88,760,597 (GRCm39) V21I probably benign Het
Or52n3 A G 7: 104,530,289 (GRCm39) Y125C possibly damaging Het
Os9 T C 10: 126,935,812 (GRCm39) D280G probably benign Het
Pcdhb14 A G 18: 37,582,283 (GRCm39) N463S probably damaging Het
Pex19 G A 1: 171,961,606 (GRCm39) E271K probably damaging Het
Prdm2 A G 4: 142,859,477 (GRCm39) I1271T probably benign Het
Rbbp4 T C 4: 129,215,751 (GRCm39) T262A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Spaca9 G A 2: 28,583,793 (GRCm39) R64W probably damaging Het
Sult1e1 A T 5: 87,727,770 (GRCm39) S171T probably damaging Het
Tns1 T C 1: 73,992,612 (GRCm39) T689A probably damaging Het
Unc13c G C 9: 73,600,648 (GRCm39) N1365K probably benign Het
Vmn2r52 T C 7: 9,905,090 (GRCm39) I250V probably benign Het
Vmn2r55 C A 7: 12,402,069 (GRCm39) L406F probably benign Het
Wdcp T C 12: 4,900,621 (GRCm39) V159A possibly damaging Het
Zbtb3 C T 19: 8,781,560 (GRCm39) A391V probably benign Het
Znhit1 A T 5: 137,011,487 (GRCm39) S109T probably benign Het
Other mutations in Ppdpf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Ppdpf APN 2 180,829,687 (GRCm39) splice site probably benign
IGL03238:Ppdpf APN 2 180,829,673 (GRCm39) missense 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
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
Predicted Primers PCR Primer
(F):5'- CTTGGAAACCTGGCACTGTCAG -3'
(R):5'- TTTGGGAAGACCTGAGGAGC -3'

Sequencing Primer
(F):5'- TGACCAGGGCCCACATTCTG -3'
(R):5'- CCTGAGGAGCAAAGGAGGGTC -3'
Posted On 2017-10-10