Incidental Mutation 'R1221:Pdpn'
ID 100072
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 039290-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R1221 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 142994001-143026134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 143000608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 75 (R75C)
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: R75C

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030317
Gene: ENSMUSG00000028583
AA Change: R75C

DomainStartEndE-ValueType
Pfam:Podoplanin 1 171 3.6e-68 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000119654
AA Change: R75C
SMART Domains Protein: ENSMUSP00000113776
Gene: ENSMUSG00000028583
AA Change: R75C

DomainStartEndE-ValueType
Pfam:Podoplanin 1 159 4.8e-84 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,942,460 (GRCm39) S668P unknown Het
Anks1 A G 17: 28,269,616 (GRCm39) Q770R possibly damaging Het
Apc2 G A 10: 80,142,214 (GRCm39) V378I probably damaging Het
Apeh A G 9: 107,969,808 (GRCm39) V184A probably benign Het
AU018091 A G 7: 3,208,717 (GRCm39) F404S probably damaging Het
Bap1 T C 14: 30,979,608 (GRCm39) L537P probably damaging Het
Bhlha15 A G 5: 144,128,341 (GRCm39) Y151C probably damaging Het
Bmp8b A T 4: 123,008,504 (GRCm39) T157S probably damaging Het
Btbd1 G T 7: 81,468,005 (GRCm39) H172N possibly damaging Het
C1rl A G 6: 124,470,940 (GRCm39) R83G probably benign Het
Cep104 A G 4: 154,072,902 (GRCm39) T387A probably benign Het
Cfi A T 3: 129,666,618 (GRCm39) Q447L probably damaging Het
Cimap1a G T 7: 140,428,296 (GRCm39) W10L probably damaging Het
Coq6 A G 12: 84,418,301 (GRCm39) E295G possibly damaging Het
Dclre1a T C 19: 56,519,700 (GRCm39) T978A possibly damaging Het
Dlc1 T C 8: 37,051,985 (GRCm39) D582G probably benign Het
Dlgap2 A G 8: 14,776,952 (GRCm39) T65A probably benign Het
Dock5 G A 14: 67,996,610 (GRCm39) S1711L probably benign Het
Drc3 A C 11: 60,275,052 (GRCm39) I338L probably benign Het
Dsc1 A T 18: 20,247,599 (GRCm39) C5* probably null Het
F5 A G 1: 163,989,368 (GRCm39) Y90C probably damaging Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm136 G T 4: 34,744,127 (GRCm39) A239E possibly damaging Het
Gm4952 A T 19: 12,601,059 (GRCm39) D93V possibly damaging Het
Gramd1c T C 16: 43,810,227 (GRCm39) T454A possibly damaging Het
Gstm6 A G 3: 107,848,418 (GRCm39) I58T probably damaging Het
Kdm3b C T 18: 34,941,298 (GRCm39) S263L possibly damaging Het
Kdm5b G C 1: 134,526,829 (GRCm39) S317T probably damaging Het
Myo15b A G 11: 115,777,546 (GRCm39) R71G possibly damaging Het
Nlrp1b G A 11: 71,072,290 (GRCm39) P518S probably benign Het
Nme5 A T 18: 34,704,575 (GRCm39) I90N probably damaging Het
Nrxn1 T A 17: 90,950,722 (GRCm39) T478S probably damaging Het
Or8g22 A C 9: 38,958,483 (GRCm39) D77E probably damaging Het
Osmr G A 15: 6,853,042 (GRCm39) Q617* probably null Het
Pcsk5 T C 19: 17,814,512 (GRCm39) D2G possibly damaging Het
Pidd1 A T 7: 141,018,725 (GRCm39) F842Y probably damaging Het
Resf1 T A 6: 149,227,719 (GRCm39) V255E probably benign Het
Sema3a A G 5: 13,566,190 (GRCm39) Q158R probably benign Het
Setbp1 T A 18: 78,899,798 (GRCm39) R1290W probably damaging Het
Slc20a1 G A 2: 129,050,324 (GRCm39) G494D probably benign Het
Spag17 A G 3: 99,889,584 (GRCm39) E151G possibly damaging Het
Stt3b A G 9: 115,086,567 (GRCm39) F351L probably benign Het
Tas1r2 A G 4: 139,396,436 (GRCm39) M592V probably benign Het
Tbcd A G 11: 121,387,909 (GRCm39) T347A probably benign Het
Tmem109 C A 19: 10,851,733 (GRCm39) R37L possibly damaging Het
Tmem67 G A 4: 12,045,871 (GRCm39) S862L possibly damaging Het
Ttn T A 2: 76,781,857 (GRCm39) D1017V probably damaging Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zfyve16 T C 13: 92,644,813 (GRCm39) S1130G 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
R5364:Pdpn UTSW 4 143,000,526 (GRCm39) missense possibly damaging 0.93
R5415:Pdpn UTSW 4 142,995,788 (GRCm39) missense probably damaging 1.00
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'- AGTCCCGCCTCTTGGACCCA -3'
(R):5'- ACAGGGCTGACCTGAGCGA -3'

Sequencing Primer
(F):5'- CTTGGACCCACCTCTATTGG -3'
(R):5'- cctaaaattcaattcccaacaacc -3'
Posted On 2014-01-15