Incidental Mutation 'R5415:Pdpn'
ID 427677
Institutional Source Beutler Lab
Gene Symbol Pdpn
Ensembl Gene ENSMUSG00000028583
Gene Name podoplanin
Synonyms RANDAM-2, Gp38, PA2.26, OTS-8, T1a, T1alpha
MMRRC Submission 042984-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R5415 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 142994001-143026134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142995788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 161 (V161D)
Ref Sequence ENSEMBL: ENSMUSP00000030317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030317] [ENSMUST00000119654]
AlphaFold Q62011
PDB Structure Crystal Structure of 237mAb with antigen [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000030317
AA Change: V161D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030317
Gene: ENSMUSG00000028583
AA Change: V161D

DomainStartEndE-ValueType
Pfam:Podoplanin 1 171 3.6e-68 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119654
AA Change: V148D

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113776
Gene: ENSMUSG00000028583
AA Change: V148D

DomainStartEndE-ValueType
Pfam:Podoplanin 1 159 4.8e-84 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null neonates die exhibiting respiratory failure. Mice homozygous for another knock-out allele exhibit blood-lymph mixing and intestinal edema. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef18 G A 8: 3,438,075 (GRCm39) R303H probably damaging Het
Ark2c C A 18: 77,554,435 (GRCm39) V60L probably damaging Het
Asb15 A T 6: 24,570,690 (GRCm39) Q556L probably benign Het
Ccr1 G T 9: 123,764,413 (GRCm39) P39H probably damaging Het
Cd177 A T 7: 24,451,816 (GRCm39) L400Q probably damaging Het
Cfap298 G T 16: 90,722,953 (GRCm39) D260E probably benign Het
Cideb T C 14: 55,995,312 (GRCm39) E58G probably damaging Het
Drd2 A G 9: 49,313,553 (GRCm39) K241E possibly damaging Het
Ect2 C T 3: 27,201,002 (GRCm39) C126Y probably damaging Het
Eef1d T C 15: 75,775,030 (GRCm39) T210A probably benign Het
Enpp2 G A 15: 54,745,552 (GRCm39) H315Y probably damaging Het
Ero1b A T 13: 12,616,656 (GRCm39) M362L probably benign Het
Exosc2 A G 2: 31,562,578 (GRCm39) K73E possibly damaging Het
Gm9637 T A 14: 19,402,143 (GRCm38) noncoding transcript Het
Gstm5 A G 3: 107,804,811 (GRCm39) D101G probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kmt2c T C 5: 25,519,699 (GRCm39) D2137G probably benign Het
Mecom T C 3: 30,011,675 (GRCm39) D619G possibly damaging Het
Met A G 6: 17,527,084 (GRCm39) I512V probably benign Het
Myh15 A G 16: 48,937,658 (GRCm39) K753R probably null Het
Nfatc4 A G 14: 56,070,091 (GRCm39) D753G probably benign Het
Or2l5 T A 16: 19,333,996 (GRCm39) H130L possibly damaging Het
Or4c113 T A 2: 88,885,240 (GRCm39) T177S probably benign Het
Or4c12 T A 2: 89,773,731 (GRCm39) T243S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp9 C T 16: 35,763,752 (GRCm39) A10V probably damaging Het
Pcdh8 C A 14: 80,007,688 (GRCm39) E292* probably null Het
Peg3 A G 7: 6,711,628 (GRCm39) V1198A probably benign Het
Phykpl T C 11: 51,476,342 (GRCm39) S21P probably benign Het
Plcb1 G T 2: 135,189,322 (GRCm39) V817F possibly damaging Het
Polk T C 13: 96,620,463 (GRCm39) Y579C probably benign Het
Ppp1r18 A G 17: 36,178,511 (GRCm39) N129D probably benign Het
Psg29 C A 7: 16,945,561 (GRCm39) probably null Het
Rims4 C T 2: 163,760,596 (GRCm39) R3H probably benign Het
Rps6kl1 A T 12: 85,186,155 (GRCm39) C292S probably benign Het
Uaca G T 9: 60,777,421 (GRCm39) G603C possibly damaging Het
Vmn1r60 T C 7: 5,547,416 (GRCm39) H228R probably benign Het
Vmn2r7 T C 3: 64,623,658 (GRCm39) T221A probably benign Het
Zfp647 C A 15: 76,795,593 (GRCm39) V356L possibly damaging Het
Other mutations in Pdpn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02017:Pdpn APN 4 142,997,140 (GRCm39) intron probably benign
IGL02307:Pdpn APN 4 143,000,550 (GRCm39) missense possibly damaging 0.59
PIT4243001:Pdpn UTSW 4 142,997,108 (GRCm39) missense probably damaging 0.99
R1221:Pdpn UTSW 4 143,000,608 (GRCm39) missense probably damaging 0.98
R5364:Pdpn UTSW 4 143,000,526 (GRCm39) missense possibly damaging 0.93
R6180:Pdpn UTSW 4 143,025,792 (GRCm39) missense probably damaging 1.00
R9306:Pdpn UTSW 4 143,000,601 (GRCm39) missense probably damaging 1.00
R9574:Pdpn UTSW 4 142,997,101 (GRCm39) missense probably benign 0.01
Z1177:Pdpn UTSW 4 143,025,792 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAAGAGATCAGATCAGAGGCTGC -3'
(R):5'- TCAGCTGGACTTGGGAGACTAG -3'

Sequencing Primer
(F):5'- ATCAGATCAGAGGCTGCGTCTG -3'
(R):5'- GGAGACTAGACGAGCCCATTC -3'
Posted On 2016-09-01