Incidental Mutation 'IGL03240:Ppdpf'
ID 414254
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 # IGL03240
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,350,365 (GRCm39) probably benign Het
AA467197 A G 2: 122,481,182 (GRCm39) T57A probably benign Het
Akap11 A T 14: 78,733,345 (GRCm39) D1852E probably damaging Het
Arg2 T A 12: 79,178,605 (GRCm39) probably null Het
Arhgef4 A G 1: 34,845,107 (GRCm39) D1437G probably benign Het
AW551984 C A 9: 39,500,418 (GRCm39) R780L probably benign Het
Baz1a T A 12: 54,974,352 (GRCm39) K503* probably null Het
Bltp3a C A 17: 28,112,227 (GRCm39) N1167K probably benign Het
Cdk2ap1 A T 5: 124,484,207 (GRCm39) H96Q probably damaging Het
Col11a1 T A 3: 114,010,859 (GRCm39) probably null Het
Col12a1 A T 9: 79,585,665 (GRCm39) probably null Het
Col22a1 G A 15: 71,679,777 (GRCm39) P877S unknown Het
Col7a1 A T 9: 108,797,441 (GRCm39) N1681Y probably null Het
Dennd1b T G 1: 139,067,130 (GRCm39) S398A possibly damaging Het
Fgd2 C T 17: 29,580,135 (GRCm39) probably benign Het
Hadh T C 3: 131,042,192 (GRCm39) S98G probably benign Het
Has2 C T 15: 56,531,656 (GRCm39) R353H probably damaging Het
Heg1 T C 16: 33,547,783 (GRCm39) S857P probably benign Het
Hemgn T A 4: 46,400,732 (GRCm39) R43* probably null Het
Htr4 A T 18: 62,570,692 (GRCm39) H249L possibly damaging Het
Hycc2 A G 1: 58,569,076 (GRCm39) L501P probably damaging Het
Iqgap3 T C 3: 88,022,281 (GRCm39) S495P probably benign Het
Kars1 T C 8: 112,732,271 (GRCm39) D99G probably benign Het
Krt40 T A 11: 99,428,394 (GRCm39) S333C probably damaging Het
Lamc2 T C 1: 152,999,871 (GRCm39) I1163V probably damaging Het
Lrrn2 A T 1: 132,866,065 (GRCm39) I377F possibly damaging Het
Mcm5 T A 8: 75,842,530 (GRCm39) I268N probably damaging Het
Mmp21 G T 7: 133,276,300 (GRCm39) H514Q probably damaging Het
Mtcl1 G A 17: 66,645,014 (GRCm39) P1478S probably damaging Het
Mybbp1a A G 11: 72,336,492 (GRCm39) T495A possibly damaging Het
Myo10 T A 15: 25,701,688 (GRCm39) V21E probably damaging Het
Nap1l4 A G 7: 143,091,982 (GRCm39) S49P probably benign Het
Ncoa2 G A 1: 13,247,316 (GRCm39) S369F probably damaging Het
Niban2 A C 2: 32,812,109 (GRCm39) Y397S probably benign Het
Or5g9 A T 2: 85,552,675 (GRCm39) K309* probably null Het
Pon2 A G 6: 5,265,316 (GRCm39) probably benign Het
Psmd6 A G 14: 14,112,393 (GRCm38) probably benign Het
Ptprk G T 10: 28,368,957 (GRCm39) R643L probably damaging Het
Ptprq T A 10: 107,524,368 (GRCm39) Y455F probably benign Het
Sec23b G A 2: 144,408,679 (GRCm39) probably benign Het
Sh3pxd2a A G 19: 47,256,465 (GRCm39) L751P probably damaging Het
Snx6 T A 12: 54,830,228 (GRCm39) H77L probably damaging Het
Svep1 C A 4: 58,048,188 (GRCm39) C3472F possibly damaging Het
Trpd52l3 A T 19: 29,981,396 (GRCm39) E50D probably damaging Het
Ttc33 A G 15: 5,246,809 (GRCm39) D205G probably damaging Het
Tubgcp3 A T 8: 12,699,797 (GRCm39) V352E probably benign Het
Tulp2 T G 7: 45,171,734 (GRCm39) F436C probably damaging Het
Vmn1r123 T A 7: 20,896,282 (GRCm39) M58K possibly damaging Het
Vmn2r113 T C 17: 23,174,931 (GRCm39) V514A probably benign Het
Vps13c T C 9: 67,862,329 (GRCm39) V2982A probably benign Het
Ywhaq T C 12: 21,445,001 (GRCm39) T215A possibly damaging Het
Zfp677 A T 17: 21,617,135 (GRCm39) H64L probably damaging 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
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