Incidental Mutation 'IGL02063:Pdap1'
ID 185529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdap1
Ensembl Gene ENSMUSG00000029623
Gene Name PDGFA associated protein 1
Synonyms PAP1, HASPP28
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.368) question?
Stock # IGL02063
Quality Score
Status
Chromosome 5
Chromosomal Location 145065580-145076835 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 145071869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000031627]
AlphaFold Q3UHX2
Predicted Effect probably benign
Transcript: ENSMUST00000031627
SMART Domains Protein: ENSMUSP00000031627
Gene: ENSMUSG00000029623

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
low complexity region 28 47 N/A INTRINSIC
low complexity region 52 69 N/A INTRINSIC
Pfam:PP28 84 163 3e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123111
Predicted Effect probably benign
Transcript: ENSMUST00000138922
SMART Domains Protein: ENSMUSP00000115515
Gene: ENSMUSG00000029622

DomainStartEndE-ValueType
PDB:2P9U|C 2 93 4e-43 PDB
SCOP:d1k8kc_ 35 93 2e-11 SMART
Blast:WD40 50 87 3e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199218
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phosphoprotein that may upregulate the PDGFA-stimulated growth of fibroblasts and also downregulate the mitogenicity of PDGFB. The encoded protein in rodents has been shown to bind PDGFA with a low affinity. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2b A G 12: 105,614,581 (GRCm39) Y1117H possibly damaging Het
B020004C17Rik A G 14: 57,253,480 (GRCm39) R24G probably damaging Het
BC005624 A G 2: 30,868,946 (GRCm39) M76T probably benign Het
Blm G T 7: 80,159,167 (GRCm39) S323* probably null Het
Card19 C A 13: 49,356,607 (GRCm39) G181* probably null Het
Cilp2 T C 8: 70,335,515 (GRCm39) I494M probably damaging Het
Col5a2 A G 1: 45,442,579 (GRCm39) probably null Het
Col6a4 T C 9: 105,934,617 (GRCm39) D1431G probably benign Het
Cped1 G A 6: 22,138,701 (GRCm39) C560Y probably damaging Het
Cyfip1 T C 7: 55,576,096 (GRCm39) S1091P probably damaging Het
Ddx24 A G 12: 103,384,461 (GRCm39) I466T probably damaging Het
Dlg2 T A 7: 91,459,684 (GRCm39) probably benign Het
Esf1 C A 2: 140,006,377 (GRCm39) D257Y possibly damaging Het
Fgfr2 A G 7: 129,769,485 (GRCm39) F634S probably damaging Het
Flywch2 A G 17: 23,996,081 (GRCm39) probably benign Het
Gbp10 A T 5: 105,383,906 (GRCm39) I32N possibly damaging Het
Gli3 A G 13: 15,900,957 (GRCm39) D1448G possibly damaging Het
Gm10335 T C 10: 14,399,147 (GRCm39) probably benign Het
Golga5 A T 12: 102,438,418 (GRCm39) E44D probably benign Het
H2-M10.1 C T 17: 36,634,901 (GRCm39) probably benign Het
Ino80b A T 6: 83,101,143 (GRCm39) D141E probably damaging Het
Itpr3 A G 17: 27,338,997 (GRCm39) I2593V probably benign Het
Krt73 C T 15: 101,704,204 (GRCm39) probably benign Het
Loxl4 G T 19: 42,596,778 (GRCm39) L78I probably benign Het
Mbd5 A T 2: 49,164,779 (GRCm39) N360I probably damaging Het
Nfat5 A T 8: 108,088,450 (GRCm39) M495L probably benign Het
Nrxn3 A T 12: 88,762,565 (GRCm39) E204V possibly damaging Het
Or8k21 G T 2: 86,145,137 (GRCm39) F164L possibly damaging Het
Paqr4 A T 17: 23,958,886 (GRCm39) C38* probably null Het
Pcdhb13 T A 18: 37,577,282 (GRCm39) N553K probably damaging Het
Pcdhb9 T A 18: 37,534,810 (GRCm39) M268K probably benign Het
Phf2 A T 13: 48,975,118 (GRCm39) Y281N unknown Het
Phka2 T A X: 159,347,209 (GRCm39) I664N possibly damaging Het
Plekha7 A T 7: 115,739,936 (GRCm39) D762E possibly damaging Het
Plekhg4 T A 8: 106,105,884 (GRCm39) probably benign Het
Ppfia2 A T 10: 106,740,706 (GRCm39) Q1006L probably null Het
Pramel12 C A 4: 143,144,421 (GRCm39) Q256K probably benign Het
Prmt5 G A 14: 54,748,477 (GRCm39) Q197* probably null Het
Prodh A T 16: 17,897,049 (GRCm39) probably null Het
Ptgr3 T A 18: 84,113,390 (GRCm39) Y355* probably null Het
Rnft2 A G 5: 118,380,587 (GRCm39) probably benign Het
Rp1l1 G T 14: 64,266,985 (GRCm39) S857I probably damaging Het
Samd9l A G 6: 3,372,992 (GRCm39) F1423S probably damaging Het
Scn3a A G 2: 65,291,854 (GRCm39) Y1631H probably damaging Het
Slc22a5 A T 11: 53,765,899 (GRCm39) I229K probably damaging Het
Slco1a7 T C 6: 141,684,615 (GRCm39) D280G probably benign Het
Snd1 T A 6: 28,526,220 (GRCm39) probably benign Het
Srrm1 G T 4: 135,074,518 (GRCm39) probably null Het
Syne2 T C 12: 76,098,874 (GRCm39) V5252A probably damaging Het
Tek A G 4: 94,627,882 (GRCm39) D2G probably benign Het
Uba1 T C X: 20,545,964 (GRCm39) S803P probably damaging Het
Uggt2 A G 14: 119,326,605 (GRCm39) I202T possibly damaging Het
Umodl1 A T 17: 31,206,888 (GRCm39) I760F probably benign Het
Vgll1 A G X: 56,144,569 (GRCm39) probably benign Het
Zfp236 A G 18: 82,676,276 (GRCm39) V347A probably benign Het
Zswim9 T C 7: 12,994,608 (GRCm39) E516G probably damaging Het
Other mutations in Pdap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1623:Pdap1 UTSW 5 145,069,739 (GRCm39) missense possibly damaging 0.93
R1944:Pdap1 UTSW 5 145,069,726 (GRCm39) missense probably benign 0.16
R4579:Pdap1 UTSW 5 145,073,691 (GRCm39) unclassified probably benign
R7945:Pdap1 UTSW 5 145,068,249 (GRCm39) missense probably damaging 1.00
R8929:Pdap1 UTSW 5 145,069,672 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07