Incidental Mutation 'R5243:Podxl2'
ID 400982
Institutional Source Beutler Lab
Gene Symbol Podxl2
Ensembl Gene ENSMUSG00000033152
Gene Name podocalyxin-like 2
Synonyms PODLX2, Endoglycan, D130074J02Rik
MMRRC Submission 042814-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5243 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 88819540-88852026 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88826356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 317 (T317A)
Ref Sequence ENSEMBL: ENSMUSP00000117954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038409] [ENSMUST00000061262] [ENSMUST00000140455] [ENSMUST00000145780] [ENSMUST00000145944]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000038409
AA Change: T253A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040417
Gene: ENSMUSG00000033152
AA Change: T253A

DomainStartEndE-ValueType
coiled coil region 88 125 N/A INTRINSIC
low complexity region 132 152 N/A INTRINSIC
Pfam:CD34_antigen 328 539 9e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061262
AA Change: T253A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000058985
Gene: ENSMUSG00000033152
AA Change: T253A

DomainStartEndE-ValueType
coiled coil region 88 125 N/A INTRINSIC
low complexity region 132 152 N/A INTRINSIC
Pfam:CD34_antigen 328 539 5.4e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124562
Predicted Effect probably benign
Transcript: ENSMUST00000140455
SMART Domains Protein: ENSMUSP00000120870
Gene: ENSMUSG00000033152

DomainStartEndE-ValueType
coiled coil region 88 125 N/A INTRINSIC
low complexity region 139 149 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141348
SMART Domains Protein: ENSMUSP00000121139
Gene: ENSMUSG00000033152

DomainStartEndE-ValueType
Pfam:CD34_antigen 77 176 1.8e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142266
Predicted Effect probably benign
Transcript: ENSMUST00000145780
SMART Domains Protein: ENSMUSP00000120460
Gene: ENSMUSG00000033152

DomainStartEndE-ValueType
coiled coil region 88 125 N/A INTRINSIC
low complexity region 139 149 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145944
AA Change: T317A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117954
Gene: ENSMUSG00000033152
AA Change: T317A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
coiled coil region 152 189 N/A INTRINSIC
low complexity region 196 216 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147542
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205158
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 95% (62/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the CD34 family of cell surface transmembrane proteins, which are characterized by an N-terminal extracellular mucin domain, globular and stalk domains, a single pass transmembrane region, and a charged cytoplasmic tail. The encoded protein is a ligand for vascular selectins. [provided by RefSeq, Oct 2012]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,956,543 (GRCm39) probably null Het
Aatk A G 11: 119,907,594 (GRCm39) L78P probably damaging Het
Acadsb T A 7: 131,045,972 (GRCm39) I412K probably damaging Het
Acer3 T C 7: 97,867,277 (GRCm39) R246G possibly damaging Het
Atp1a3 T A 7: 24,693,994 (GRCm39) I387F probably damaging Het
Atp6v1b2 A T 8: 69,556,391 (GRCm39) M300L probably benign Het
Aurkb T A 11: 68,936,752 (GRCm39) probably benign Het
Card10 C A 15: 78,664,872 (GRCm39) G694V possibly damaging Het
Ccdc171 A G 4: 83,522,344 (GRCm39) N336S probably damaging Het
Copg2 T C 6: 30,750,626 (GRCm39) T720A probably benign Het
Coro2a A T 4: 46,545,620 (GRCm39) W272R probably damaging Het
Cpne6 T A 14: 55,750,204 (GRCm39) C112S probably damaging Het
Ddx21 A G 10: 62,437,992 (GRCm39) M1T probably null Het
Dohh A G 10: 81,223,203 (GRCm39) R161G probably benign Het
Dsc1 A C 18: 20,232,216 (GRCm39) V264G probably damaging Het
E4f1 A T 17: 24,666,292 (GRCm39) C198S probably damaging Het
Evpl T A 11: 116,113,795 (GRCm39) E1298D probably damaging Het
Grid2ip A T 5: 143,363,260 (GRCm39) I246F probably damaging Het
H2-M1 A G 17: 36,982,193 (GRCm39) F136S possibly damaging Het
Hck T C 2: 152,986,412 (GRCm39) V387A probably damaging Het
Hdac1 G A 4: 129,410,646 (GRCm39) probably benign Het
Hydin A C 8: 111,232,380 (GRCm39) Q1633P possibly damaging Het
Igkv12-41 A G 6: 69,835,686 (GRCm39) I22T probably damaging Het
Ints3 CA CAA 3: 90,308,451 (GRCm39) probably null Het
Itpr2 C G 6: 146,089,044 (GRCm39) W2188C probably damaging Het
Kcnt1 A G 2: 25,798,086 (GRCm39) E899G probably damaging Het
Lgals8 C A 13: 12,469,645 (GRCm39) V12L probably benign Het
Lgr6 T C 1: 135,037,010 (GRCm39) probably benign Het
Lrrc8b T G 5: 105,628,812 (GRCm39) I386S probably damaging Het
Mks1 T C 11: 87,747,504 (GRCm39) probably benign Het
Mon1b A G 8: 114,364,553 (GRCm39) D110G possibly damaging Het
Mpdz G T 4: 81,225,116 (GRCm39) A1437E probably damaging Het
Nbeal1 T A 1: 60,309,487 (GRCm39) N1753K probably damaging Het
Nceh1 T C 3: 27,295,837 (GRCm39) V366A probably damaging Het
Ncor1 A T 11: 62,229,788 (GRCm39) D893E probably damaging Het
Npc1 T A 18: 12,331,688 (GRCm39) probably benign Het
Or1j15 T C 2: 36,458,655 (GRCm39) L15P probably damaging Het
Or9i1b A G 19: 13,897,025 (GRCm39) I214V probably damaging Het
Prl8a9 T G 13: 27,746,446 (GRCm39) Q54P probably damaging Het
Prpf31 C T 7: 3,641,753 (GRCm39) R351* probably null Het
Pspc1 C T 14: 57,001,648 (GRCm39) G242D probably damaging Het
Rbmxl2 G C 7: 106,809,044 (GRCm39) G110R probably damaging Het
Rif1 T A 2: 52,001,836 (GRCm39) H1763Q possibly damaging Het
Rpusd3 T C 6: 113,395,025 (GRCm39) T85A probably benign Het
Rttn A G 18: 89,126,187 (GRCm39) I1853M possibly damaging Het
Sacs T A 14: 61,443,406 (GRCm39) C1817* probably null Het
Scrib A T 15: 75,937,101 (GRCm39) V335E probably benign Het
Sdk2 A G 11: 113,715,912 (GRCm39) L1549P possibly damaging Het
Slc25a11 C T 11: 70,536,924 (GRCm39) G44S probably damaging Het
Slc6a3 A G 13: 73,719,570 (GRCm39) Y533C possibly damaging Het
Slc7a5 A G 8: 122,623,274 (GRCm39) V191A probably damaging Het
Son A G 16: 91,451,621 (GRCm39) K123E probably damaging Het
Tcstv3 T A 13: 120,779,125 (GRCm39) M8K probably benign Het
Tie1 A G 4: 118,339,548 (GRCm39) V411A probably damaging Het
Upk3bl C A 5: 136,088,977 (GRCm39) D1E possibly damaging Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Vmn2r75 T C 7: 85,813,447 (GRCm39) N452D probably damaging Het
Wnk2 T A 13: 49,226,054 (GRCm39) N1043I possibly damaging Het
Zfp407 A T 18: 84,579,216 (GRCm39) H632Q probably damaging Het
Zfp423 T C 8: 88,500,275 (GRCm39) K1174R probably benign Het
Other mutations in Podxl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01541:Podxl2 APN 6 88,826,331 (GRCm39) missense probably benign 0.00
IGL01642:Podxl2 APN 6 88,820,529 (GRCm39) missense probably damaging 1.00
R0295:Podxl2 UTSW 6 88,826,660 (GRCm39) missense probably benign 0.06
R0336:Podxl2 UTSW 6 88,826,577 (GRCm39) missense probably benign 0.12
R0625:Podxl2 UTSW 6 88,826,937 (GRCm39) missense possibly damaging 0.74
R1239:Podxl2 UTSW 6 88,826,965 (GRCm39) missense probably benign 0.35
R1316:Podxl2 UTSW 6 88,826,199 (GRCm39) missense probably benign 0.05
R1650:Podxl2 UTSW 6 88,826,901 (GRCm39) missense probably benign 0.06
R1933:Podxl2 UTSW 6 88,826,587 (GRCm39) missense probably benign 0.05
R2338:Podxl2 UTSW 6 88,826,178 (GRCm39) missense probably damaging 1.00
R3500:Podxl2 UTSW 6 88,819,900 (GRCm39) missense probably damaging 1.00
R5726:Podxl2 UTSW 6 88,825,721 (GRCm39) missense probably damaging 1.00
R5763:Podxl2 UTSW 6 88,826,805 (GRCm39) missense probably damaging 1.00
R6247:Podxl2 UTSW 6 88,826,299 (GRCm39) nonsense probably null
R6527:Podxl2 UTSW 6 88,819,912 (GRCm39) missense probably damaging 1.00
R7109:Podxl2 UTSW 6 88,820,566 (GRCm39) missense possibly damaging 0.56
R7129:Podxl2 UTSW 6 88,820,487 (GRCm39) critical splice donor site probably null
R7376:Podxl2 UTSW 6 88,826,632 (GRCm39) missense probably benign 0.01
R7539:Podxl2 UTSW 6 88,826,311 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CACGGTGTTAGTGAGTGAGC -3'
(R):5'- GTGTGAAACCCACCTTGTCAG -3'

Sequencing Primer
(F):5'- TGTTAGTGAGTGAGCTTCAGC -3'
(R):5'- CCGGGGGTTCAGAACTATAGC -3'
Posted On 2016-07-06