Incidental Mutation 'R3840:Podxl'
ID277107
Institutional Source Beutler Lab
Gene Symbol Podxl
Ensembl Gene ENSMUSG00000025608
Gene Namepodocalyxin-like
SynonymsPC, Ly102, podocalyxin, Pclp1
MMRRC Submission 040780-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R3840 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location31519488-31563981 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 31523081 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 485 (V485I)
Ref Sequence ENSEMBL: ENSMUSP00000026698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026698]
Predicted Effect probably damaging
Transcript: ENSMUST00000026698
AA Change: V485I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026698
Gene: ENSMUSG00000025608
AA Change: V485I

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,620,104 K11N probably benign Het
Abcc8 A G 7: 46,108,100 I1375T possibly damaging Het
Ate1 A T 7: 130,516,137 D39E probably damaging Het
BC035947 G T 1: 78,497,845 N683K probably benign Het
C530008M17Rik A T 5: 76,859,011 Q1073L unknown Het
Cdca2 A T 14: 67,680,271 Y559* probably null Het
Cmya5 A G 13: 93,094,632 V1316A probably damaging Het
Cntnap5b C T 1: 100,383,477 T936I possibly damaging Het
Col6a5 T C 9: 105,928,611 N1032S unknown Het
Elmsan1 T C 12: 84,171,609 R526G probably damaging Het
Epc2 A G 2: 49,488,738 K68R probably damaging Het
Erbb3 A T 10: 128,570,324 F1075I probably benign Het
F11r G T 1: 171,460,889 R100L probably damaging Het
Fam171b C A 2: 83,880,062 Q693K possibly damaging Het
Fam198b T A 3: 79,908,590 D302E probably benign Het
Fam83c C T 2: 155,834,748 R34H probably benign Het
Fmn2 GAAGA GAAGAAAGA 1: 174,582,033 probably null Het
Ggt1 T A 10: 75,581,385 Y5* probably null Het
Hsph1 T A 5: 149,620,715 probably null Het
Jhy T A 9: 40,944,846 E115V probably benign Het
Kcnu1 G T 8: 25,885,352 V365L possibly damaging Het
Lrrc4c A G 2: 97,630,192 T388A probably damaging Het
Mastl T C 2: 23,140,551 D202G probably damaging Het
Medag T A 5: 149,427,423 I121N probably damaging Het
Mocos C T 18: 24,676,624 A428V probably damaging Het
Mok C T 12: 110,815,157 V59M probably benign Het
Neb C A 2: 52,207,660 probably null Het
Nr2c2 C T 6: 92,163,138 R464W probably damaging Het
Olfr129 A G 17: 38,055,348 S73P probably damaging Het
Olfr593 G A 7: 103,212,693 G267R probably damaging Het
Otud1 G T 2: 19,658,743 E228* probably null Het
Pcdhga11 A T 18: 37,757,549 N537Y probably damaging Het
Pkd1l1 T C 11: 8,889,050 Y878C probably damaging Het
Psmd12 T C 11: 107,485,572 I44T probably benign Het
Rap1gap T C 4: 137,717,447 F182S probably damaging Het
Slc22a13 T C 9: 119,208,789 D91G probably benign Het
Slc4a11 A G 2: 130,688,054 F268S probably damaging Het
Snap91 C T 9: 86,839,565 V74M probably damaging Het
Tmem87b T A 2: 128,826,384 L150* probably null Het
Tmprss7 T A 16: 45,660,832 R664* probably null Het
Tnfrsf11b T A 15: 54,252,082 H373L probably damaging Het
Tnfrsf23 A G 7: 143,681,529 S33P probably benign Het
Tro A G X: 150,646,202 probably benign Het
Tulp1 A G 17: 28,353,715 V489A probably damaging Het
Wac C A 18: 7,918,535 P416H probably damaging Het
Zap70 T A 1: 36,778,417 I247N probably damaging Het
Zfp617 G A 8: 71,932,117 G97E probably damaging 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
IGL02240:Podxl APN 6 31524998 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGACAACCTTCGGAGTCCATTC -3'
(R):5'- CCCTGGGTTGAATGGGGAAATG -3'

Sequencing Primer
(F):5'- GAGTCCATTCTCCCTCCCCAG -3'
(R):5'- AGCACTCCAAAATTGCCGTCTTC -3'
Posted On2015-04-06