Incidental Mutation 'IGL01081:Podxl'
ID 51263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Podxl
Ensembl Gene ENSMUSG00000025608
Gene Name podocalyxin-like
Synonyms podocalyxin, PC, Pclp1, Podxl1, Ly102
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01081
Quality Score
Status
Chromosome 6
Chromosomal Location 31496428-31540872 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31505639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 135 (T135A)
Ref Sequence ENSEMBL: ENSMUSP00000026698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026698]
AlphaFold Q9R0M4
Predicted Effect possibly damaging
Transcript: ENSMUST00000026698
AA Change: T135A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026698
Gene: ENSMUSG00000025608
AA Change: T135A

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A G 9: 26,901,890 (GRCm39) L158P probably damaging Het
Aco1 A G 4: 40,197,576 (GRCm39) Q860R probably benign Het
Actl11 A T 9: 107,806,181 (GRCm39) Q168L possibly damaging Het
Adam26b T C 8: 43,972,975 (GRCm39) I676V probably benign Het
Aldoart2 A C 12: 55,612,920 (GRCm39) I282L probably benign Het
Capns1 G T 7: 29,889,565 (GRCm39) S211R probably benign Het
Cps1 T C 1: 67,245,983 (GRCm39) V1158A probably damaging Het
Cryl1 C T 14: 57,523,821 (GRCm39) probably null Het
Cxcr5 A G 9: 44,425,607 (GRCm39) probably benign Het
Dcaf13 A G 15: 38,982,201 (GRCm39) K56E probably damaging Het
Dlx6 T G 6: 6,867,068 (GRCm39) S85A probably damaging Het
Dsg2 C T 18: 20,722,999 (GRCm39) probably benign Het
Dync1li1 T A 9: 114,549,665 (GRCm39) S412T possibly damaging Het
Ebf3 C A 7: 136,827,625 (GRCm39) probably benign Het
Fads3 T C 19: 10,030,366 (GRCm39) I168T probably benign Het
Gm10295 G A 7: 71,000,296 (GRCm39) P95S unknown Het
Gm43638 T C 5: 87,634,455 (GRCm39) T51A probably damaging Het
Gm5114 G A 7: 39,060,071 (GRCm39) probably benign Het
Gucy2c G A 6: 136,679,737 (GRCm39) T974M probably damaging Het
Ighv1-19-1 T C 12: 114,672,258 (GRCm39) probably benign Het
Kri1 A T 9: 21,191,723 (GRCm39) L173Q probably damaging Het
Lztfl1 T C 9: 123,531,338 (GRCm39) D210G probably benign Het
Morc2a T A 11: 3,638,149 (GRCm39) N958K probably damaging Het
Msl3l2 G A 10: 55,992,021 (GRCm39) A249T probably benign Het
Nlrp4a A G 7: 26,149,254 (GRCm39) E287G probably benign Het
Nlrp9a A T 7: 26,257,519 (GRCm39) N290I possibly damaging Het
Or2b28 T G 13: 21,531,185 (GRCm39) L29R probably damaging Het
Or4e2 A G 14: 52,688,484 (GRCm39) T205A probably benign Het
Or5al6 C T 2: 85,976,955 (GRCm39) G41D probably benign Het
Pcsk7 A G 9: 45,840,005 (GRCm39) D731G probably benign Het
Plppr5 T A 3: 117,480,298 (GRCm39) probably benign Het
Pole T G 5: 110,485,106 (GRCm39) C407G possibly damaging Het
Prl C A 13: 27,249,024 (GRCm39) N224K possibly damaging Het
Prnp A T 2: 131,778,340 (GRCm39) probably benign Het
Proser2 A G 2: 6,105,149 (GRCm39) *472R probably null Het
Rhag T C 17: 41,122,178 (GRCm39) S38P possibly damaging Het
Rnf146 T C 10: 29,223,856 (GRCm39) D10G probably damaging Het
Rps3a1 T C 3: 86,049,085 (GRCm39) D29G probably benign Het
Sv2a A T 3: 96,097,012 (GRCm39) I446F probably benign Het
Tbc1d30 C A 10: 121,103,319 (GRCm39) R571L probably damaging Het
Tfrc T A 16: 32,443,646 (GRCm39) probably null Het
Tnfaip1 G A 11: 78,419,129 (GRCm39) P156S probably damaging Het
Vmn1r226 T C 17: 20,908,166 (GRCm39) S133P probably damaging Het
Wnt9b C T 11: 103,622,836 (GRCm39) R189K probably damaging Het
Ythdc2 A G 18: 44,983,726 (GRCm39) H564R probably benign Het
Zfp442 C A 2: 150,251,267 (GRCm39) E211* probably null Het
Other mutations in Podxl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Podxl APN 6 31,501,319 (GRCm39) missense probably damaging 1.00
IGL02151:Podxl APN 6 31,501,394 (GRCm39) missense possibly damaging 0.65
IGL02240:Podxl APN 6 31,501,933 (GRCm39) missense probably damaging 1.00
IGL02487:Podxl APN 6 31,499,957 (GRCm39) makesense probably null
IGL02598:Podxl APN 6 31,501,355 (GRCm39) missense probably damaging 1.00
IGL02957:Podxl APN 6 31,505,384 (GRCm39) splice site probably benign
R2042:Podxl UTSW 6 31,500,051 (GRCm39) missense possibly damaging 0.75
R3840:Podxl UTSW 6 31,500,016 (GRCm39) missense probably damaging 1.00
R4675:Podxl UTSW 6 31,503,579 (GRCm39) missense possibly damaging 0.95
R5509:Podxl UTSW 6 31,503,548 (GRCm39) missense probably benign 0.00
R5754:Podxl UTSW 6 31,501,329 (GRCm39) missense probably damaging 1.00
R5876:Podxl UTSW 6 31,505,391 (GRCm39) critical splice donor site probably null
R6242:Podxl UTSW 6 31,503,180 (GRCm39) missense probably benign 0.30
R6376:Podxl UTSW 6 31,505,432 (GRCm39) missense probably benign 0.00
R6493:Podxl UTSW 6 31,501,981 (GRCm39) missense probably damaging 1.00
R7113:Podxl UTSW 6 31,501,668 (GRCm39) critical splice acceptor site probably null
R7299:Podxl UTSW 6 31,501,371 (GRCm39) missense probably damaging 1.00
R7301:Podxl UTSW 6 31,501,371 (GRCm39) missense probably damaging 1.00
R7338:Podxl UTSW 6 31,505,941 (GRCm39) missense unknown
R7358:Podxl UTSW 6 31,501,929 (GRCm39) missense probably benign 0.03
R8799:Podxl UTSW 6 31,501,400 (GRCm39) missense probably damaging 1.00
Z1176:Podxl UTSW 6 31,505,569 (GRCm39) missense probably damaging 0.98
Z1177:Podxl UTSW 6 31,505,459 (GRCm39) missense possibly damaging 0.65
Posted On 2013-06-21