Incidental Mutation 'R4579:Pdap1'
ID 343492
Institutional Source Beutler Lab
Gene Symbol Pdap1
Ensembl Gene ENSMUSG00000029623
Gene Name PDGFA associated protein 1
Synonyms PAP1, HASPP28
MMRRC Submission 041801-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.368) question?
Stock # R4579 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 145065580-145076835 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 145073691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031627] [ENSMUST00000159018] [ENSMUST00000160075] [ENSMUST00000162308] [ENSMUST00000162594]
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 noncoding transcript
Transcript: ENSMUST00000143439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148781
Predicted Effect probably benign
Transcript: ENSMUST00000159018
SMART Domains Protein: ENSMUSP00000124999
Gene: ENSMUSG00000038722

DomainStartEndE-ValueType
Pfam:G10 1 144 2.2e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160004
Predicted Effect probably benign
Transcript: ENSMUST00000160075
SMART Domains Protein: ENSMUSP00000125564
Gene: ENSMUSG00000038722

DomainStartEndE-ValueType
Pfam:G10 1 144 2.2e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199218
Predicted Effect probably benign
Transcript: ENSMUST00000162308
SMART Domains Protein: ENSMUSP00000125590
Gene: ENSMUSG00000038722

DomainStartEndE-ValueType
Pfam:G10 29 103 9.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162594
SMART Domains Protein: ENSMUSP00000125738
Gene: ENSMUSG00000038722

DomainStartEndE-ValueType
Pfam:G10 1 144 2.2e-69 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (88/91)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik A G 2: 18,031,848 (GRCm39) I90T probably damaging Het
Acox3 A G 5: 35,761,987 (GRCm39) N444D probably damaging Het
Adamts16 A G 13: 70,927,743 (GRCm39) Y499H probably damaging Het
Ajm1 T A 2: 25,469,661 (GRCm39) R83S possibly damaging Het
Ank2 A T 3: 126,752,612 (GRCm39) V368D probably damaging Het
Atad5 T C 11: 79,986,017 (GRCm39) V368A probably damaging Het
Atp13a5 T C 16: 29,067,090 (GRCm39) probably null Het
Bdh1 A T 16: 31,254,954 (GRCm39) probably benign Het
Bmp6 A T 13: 38,653,701 (GRCm39) Y256F probably damaging Het
Bub1b C A 2: 118,453,657 (GRCm39) S496* probably null Het
Capn15 C T 17: 26,178,811 (GRCm39) R1128H probably damaging Het
Ccnf T A 17: 24,450,303 (GRCm39) R461* probably null Het
Col6a1 C T 10: 76,547,191 (GRCm39) V725I unknown Het
Cp T C 3: 20,011,599 (GRCm39) probably null Het
Cul2 T C 18: 3,430,957 (GRCm39) V577A probably benign Het
Cux2 A T 5: 121,998,716 (GRCm39) I1408K probably benign Het
Cyp2c69 T A 19: 39,869,630 (GRCm39) T130S possibly damaging Het
Cyp3a57 A G 5: 145,311,074 (GRCm39) T278A probably benign Het
Dchs1 T G 7: 105,403,972 (GRCm39) T2857P probably damaging Het
Dchs1 A G 7: 105,408,180 (GRCm39) M1884T probably benign Het
Dnah3 T C 7: 119,608,554 (GRCm39) S1802G probably damaging Het
Dner T C 1: 84,361,537 (GRCm39) S691G probably damaging Het
Dzip1l A T 9: 99,529,267 (GRCm39) Q332L probably damaging Het
Eprs1 A G 1: 185,133,804 (GRCm39) Y827C probably damaging Het
Ermp1 A T 19: 29,594,051 (GRCm39) N706K probably damaging Het
F830045P16Rik A G 2: 129,305,423 (GRCm39) L317S probably damaging Het
Fam120c G T X: 150,219,179 (GRCm39) G696W probably damaging Het
Fance T A 17: 28,536,125 (GRCm39) probably null Het
Fancl G T 11: 26,418,423 (GRCm39) probably null Het
Fbxo30 T A 10: 11,165,293 (GRCm39) V5E probably benign Het
Foxn4 A T 5: 114,394,886 (GRCm39) I347N possibly damaging Het
Galr2 A T 11: 116,172,325 (GRCm39) D5V probably benign Het
Gm4845 T G 1: 141,184,865 (GRCm39) noncoding transcript Het
Gnao1 A T 8: 94,693,532 (GRCm39) Q73L probably damaging Het
Gnpat T A 8: 125,605,241 (GRCm39) probably null Het
H2-T5 C T 17: 36,472,649 (GRCm39) probably benign Het
Hectd1 A G 12: 51,791,356 (GRCm39) M2594T probably damaging Het
Hint3 T C 10: 30,486,428 (GRCm39) H117R probably damaging Het
Hsd3b6 A G 3: 98,713,541 (GRCm39) F253L probably damaging Het
Itgal A G 7: 126,904,466 (GRCm39) D313G possibly damaging Het
Kbtbd2 A T 6: 56,755,893 (GRCm39) D614E probably damaging Het
Ksr2 A T 5: 117,894,335 (GRCm39) I825F probably damaging Het
L3mbtl4 A T 17: 69,071,635 (GRCm39) S521C probably benign Het
Lamc1 T C 1: 153,123,015 (GRCm39) N725S probably damaging Het
Med1 T G 11: 98,049,248 (GRCm39) E516A possibly damaging Het
Mical3 A T 6: 120,935,660 (GRCm39) V1622E probably benign Het
Miip G A 4: 147,945,518 (GRCm39) P373S probably damaging Het
Myo7a C A 7: 97,722,400 (GRCm39) S1175I probably damaging Het
Ndst3 A T 3: 123,340,474 (GRCm39) D781E probably benign Het
Nf1 T A 11: 79,359,583 (GRCm39) V1407E probably damaging Het
Opalin A G 19: 41,056,196 (GRCm39) L33P probably damaging Het
Or2f2 A T 6: 42,767,458 (GRCm39) I162F probably benign Het
Or2n1b G C 17: 38,460,296 (GRCm39) K272N probably damaging Het
Or4c111 T C 2: 88,843,488 (GRCm39) I307V probably benign Het
Or8b12i G T 9: 20,082,410 (GRCm39) S152R probably damaging Het
Or8k28 T C 2: 86,285,859 (GRCm39) Y252C probably damaging Het
Or8s10 A T 15: 98,335,560 (GRCm39) D70V probably damaging Het
Pcdhb2 T A 18: 37,429,168 (GRCm39) N23K probably damaging Het
Pds5b A G 5: 150,670,197 (GRCm39) E395G probably damaging Het
Pex1 C A 5: 3,668,880 (GRCm39) R624S probably benign Het
Pitrm1 G A 13: 6,608,261 (GRCm39) V329I probably benign Het
Pop1 G A 15: 34,515,970 (GRCm39) probably benign Het
Prkaa1 A G 15: 5,190,082 (GRCm39) probably null Het
Slc38a6 G T 12: 73,335,298 (GRCm39) probably null Het
Slc5a9 T A 4: 111,750,384 (GRCm39) Y158F probably damaging Het
Spata3 T A 1: 85,954,175 (GRCm39) V114E probably damaging Het
Tbcb T A 7: 29,931,019 (GRCm39) I34F possibly damaging Het
Tek T A 4: 94,751,903 (GRCm39) Y1014* probably null Het
Togaram1 G T 12: 65,014,681 (GRCm39) C644F probably damaging Het
Trim56 A C 5: 137,142,918 (GRCm39) D199E possibly damaging Het
Tssk3 A T 4: 129,383,110 (GRCm39) D187E probably benign Het
Ttn G A 2: 76,727,147 (GRCm39) probably benign Het
Twf2 G A 9: 106,090,025 (GRCm39) R126Q probably benign Het
Ugt1a10 T C 1: 87,983,838 (GRCm39) M212T probably benign Het
Vmn1r177 A T 7: 23,565,772 (GRCm39) F35I possibly damaging Het
Vmn1r44 T A 6: 89,870,915 (GRCm39) H77Q possibly damaging Het
Zfp1004 T A 2: 150,034,143 (GRCm39) Y186N probably damaging Het
Zfp524 G A 7: 5,021,347 (GRCm39) V292I probably benign Het
Zfp788 T G 7: 41,297,018 (GRCm39) I56S probably benign Het
Other mutations in Pdap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02063:Pdap1 APN 5 145,071,869 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCAAAATGGGCAAAGTCCTTTC -3'
(R):5'- TGAAGGTAGGTGAGGTTCCC -3'

Sequencing Primer
(F):5'- CTTGTTGGTCCAATCATAGGACCAC -3'
(R):5'- CTGAACAGGACAGCCTTTTGG -3'
Posted On 2015-09-24