Incidental Mutation 'IGL02240:Podxl'
ID286034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Podxl
Ensembl Gene ENSMUSG00000025608
Gene Namepodocalyxin-like
SynonymsPC, Ly102, podocalyxin, Pclp1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02240
Quality Score
Status
Chromosome6
Chromosomal Location31519488-31563981 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31524998 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 342 (L342P)
Ref Sequence ENSEMBL: ENSMUSP00000026698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026698]
Predicted Effect probably damaging
Transcript: ENSMUST00000026698
AA Change: L342P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026698
Gene: ENSMUSG00000025608
AA Change: L342P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 61 91 N/A INTRINSIC
low complexity region 104 130 N/A INTRINSIC
low complexity region 196 208 N/A INTRINSIC
low complexity region 265 278 N/A INTRINSIC
Pfam:CD34_antigen 301 503 6e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136877
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality and severe kidney defects including absence of the podocyte slit diaphragm and foot processes and anuria. While a subset display edema and/or omphalocele, most mice appear normal at birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,803,662 E1169G probably damaging Het
Cdc34 A G 10: 79,687,989 D168G possibly damaging Het
Cwc27 A T 13: 104,806,643 F130L probably damaging Het
Dglucy T A 12: 100,871,413 M635K possibly damaging Het
Eral1 G A 11: 78,077,861 R149* probably null Het
Gad1-ps A G 10: 99,444,958 noncoding transcript Het
Glis3 A T 19: 28,531,525 L353Q probably damaging Het
Gsta2 T A 9: 78,331,159 I213F probably benign Het
Ist1 A T 8: 109,682,204 probably benign Het
Kif1b A G 4: 149,246,414 V549A probably damaging Het
Lrp2 C T 2: 69,535,046 R261H probably benign Het
Msh4 T C 3: 153,873,674 N512S probably damaging Het
Nlrp2 A T 7: 5,327,823 S525T probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Olfr923 T A 9: 38,828,306 V205D probably benign Het
Pcdhb10 A T 18: 37,412,402 H177L possibly damaging Het
Plcb3 A T 19: 6,958,080 probably benign Het
Psd4 T G 2: 24,396,377 S330A probably benign Het
Sucla2 A G 14: 73,590,847 D298G probably damaging Het
Tecr T C 8: 83,573,416 D107G probably damaging Het
Vamp4 T A 1: 162,577,877 N24K possibly damaging Het
Zfp91 A G 19: 12,776,406 probably benign Het
Other mutations in Podxl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Podxl APN 6 31528704 missense possibly damaging 0.53
IGL01576:Podxl APN 6 31524384 missense probably damaging 1.00
IGL02151:Podxl APN 6 31524459 missense possibly damaging 0.65
IGL02487:Podxl APN 6 31523022 makesense probably null
IGL02598:Podxl APN 6 31524420 missense probably damaging 1.00
IGL02957:Podxl APN 6 31528449 splice site probably benign
R2042:Podxl UTSW 6 31523116 missense possibly damaging 0.75
R3840:Podxl UTSW 6 31523081 missense probably damaging 1.00
R4675:Podxl UTSW 6 31526644 missense possibly damaging 0.95
R5509:Podxl UTSW 6 31526613 missense probably benign 0.00
R5754:Podxl UTSW 6 31524394 missense probably damaging 1.00
R5876:Podxl UTSW 6 31528456 critical splice donor site probably null
R6242:Podxl UTSW 6 31526245 missense probably benign 0.30
R6376:Podxl UTSW 6 31528497 missense probably benign 0.00
R6493:Podxl UTSW 6 31525046 missense probably damaging 1.00
R7113:Podxl UTSW 6 31524733 critical splice acceptor site probably null
R7299:Podxl UTSW 6 31524436 missense probably damaging 1.00
R7301:Podxl UTSW 6 31524436 missense probably damaging 1.00
R7338:Podxl UTSW 6 31529006 missense unknown
R7358:Podxl UTSW 6 31524994 missense probably benign 0.03
Posted On2015-04-16