Incidental Mutation 'R0295:Podxl2'
ID 37675
Institutional Source Beutler Lab
Gene Symbol Podxl2
Ensembl Gene ENSMUSG00000033152
Gene Name podocalyxin-like 2
Synonyms PODLX2, Endoglycan, D130074J02Rik
MMRRC Submission 038512-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0295 (G1)
Quality Score 220
Status Validated
Chromosome 6
Chromosomal Location 88819540-88852026 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88826660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 215 (S215R)
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: S151R

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000040417
Gene: ENSMUSG00000033152
AA Change: S151R

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: S151R

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000058985
Gene: ENSMUSG00000033152
AA Change: S151R

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: S215R

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000117954
Gene: ENSMUSG00000033152
AA Change: S215R

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: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.9%
Validation Efficiency 100% (70/70)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik G A 10: 76,290,642 (GRCm39) S127N probably damaging Het
Abcc8 T C 7: 45,767,478 (GRCm39) R953G probably benign Het
Adamtsl3 T A 7: 82,197,213 (GRCm39) probably null Het
Adh4 A G 3: 138,134,837 (GRCm39) D337G probably damaging Het
Apob T A 12: 8,052,181 (GRCm39) Y1207* probably null Het
Birc6 T C 17: 74,920,357 (GRCm39) probably benign Het
Bms1 A G 6: 118,366,298 (GRCm39) I1065T probably benign Het
Cacna1i T A 15: 80,240,412 (GRCm39) L378Q probably damaging Het
Ccdc127 C A 13: 74,504,989 (GRCm39) P179H probably damaging Het
Ccdc18 A T 5: 108,321,655 (GRCm39) K586N probably damaging Het
Cep290 A C 10: 100,373,683 (GRCm39) E1321A probably damaging Het
Cstpp1 A T 2: 91,112,939 (GRCm39) I173N probably damaging Het
Ctc1 A G 11: 68,921,414 (GRCm39) K682E possibly damaging Het
Cux1 A C 5: 136,342,066 (GRCm39) V442G probably benign Het
Dph2 A T 4: 117,748,127 (GRCm39) V150E possibly damaging Het
Etv6 A G 6: 134,243,238 (GRCm39) D331G probably benign Het
Fbxo42 A G 4: 140,927,808 (GRCm39) D696G probably damaging Het
Fbxo8 G A 8: 57,043,109 (GRCm39) D198N probably benign Het
Gria4 T C 9: 4,793,840 (GRCm39) T73A possibly damaging Het
H2aj C G 6: 136,785,602 (GRCm39) R89G probably damaging Het
Ifng G T 10: 118,277,154 (GRCm39) S32I possibly damaging Het
Ildr1 A G 16: 36,529,839 (GRCm39) probably null Het
Knl1 A C 2: 118,919,320 (GRCm39) D1824A probably damaging Het
Lamp3 A T 16: 19,519,858 (GRCm39) Y108* probably null Het
Lcp1 A G 14: 75,436,860 (GRCm39) I69V probably null Het
Lrp6 A T 6: 134,434,656 (GRCm39) V1349E probably benign Het
Lrrcc1 A T 3: 14,630,909 (GRCm39) E1009D probably benign Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Med14 G C X: 12,551,987 (GRCm39) R1223G probably damaging Het
Mesd C T 7: 83,547,073 (GRCm39) Q179* probably null Het
Myh7 A G 14: 55,222,278 (GRCm39) probably benign Het
Myo6 T C 9: 80,190,861 (GRCm39) I804T probably damaging Het
Neb T C 2: 52,174,297 (GRCm39) I1521V possibly damaging Het
Nosip T A 7: 44,726,340 (GRCm39) I249N probably damaging Het
Nostrin A C 2: 69,009,760 (GRCm39) E296A probably benign Het
Oprk1 T C 1: 5,669,073 (GRCm39) L173S possibly damaging Het
Or2n1d A T 17: 38,646,182 (GRCm39) I45F probably damaging Het
Or4k36 T A 2: 111,146,499 (GRCm39) V225D probably damaging Het
Or51v8 T C 7: 103,319,518 (GRCm39) H240R probably damaging Het
Or5p1 T G 7: 107,916,892 (GRCm39) S264A probably benign Het
Pdzd7 A G 19: 45,025,511 (GRCm39) V328A probably benign Het
Prss36 T G 7: 127,535,027 (GRCm39) T418P possibly damaging Het
Ralgps2 T A 1: 156,651,555 (GRCm39) probably benign Het
Rasa2 T C 9: 96,427,863 (GRCm39) probably null Het
Rgs1 A T 1: 144,121,224 (GRCm39) I149N probably damaging Het
Rgs16 A G 1: 153,619,483 (GRCm39) E163G probably damaging Het
Rnf121 A G 7: 101,684,553 (GRCm39) F120S possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slfn8 A T 11: 82,894,169 (GRCm39) Y823* probably null Het
Spdl1 A T 11: 34,704,170 (GRCm39) N554K possibly damaging Het
St6gal1 T A 16: 23,174,953 (GRCm39) probably benign Het
Tet3 G A 6: 83,346,121 (GRCm39) P1304S probably benign Het
Timm29 T C 9: 21,504,372 (GRCm39) probably null Het
Tpcn1 T A 5: 120,677,125 (GRCm39) I687F probably damaging Het
Trim46 A G 3: 89,152,420 (GRCm39) probably benign Het
Ttc23 T A 7: 67,319,600 (GRCm39) probably benign Het
Ttll6 G T 11: 96,045,540 (GRCm39) V586L probably benign Het
Ttn A T 2: 76,588,955 (GRCm39) probably benign Het
Uba3 A T 6: 97,168,544 (GRCm39) H160Q possibly damaging Het
Usp32 A G 11: 84,944,518 (GRCm39) S316P probably damaging Het
Vcan T C 13: 89,860,310 (GRCm39) I352M probably benign Het
Zcwpw1 G T 5: 137,815,734 (GRCm39) L412F probably damaging Het
Zfp292 A T 4: 34,806,281 (GRCm39) N2254K probably damaging Het
Zscan4e A G 7: 11,041,543 (GRCm39) S138P probably damaging 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
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
R5243:Podxl2 UTSW 6 88,826,356 (GRCm39) missense probably benign 0.00
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'- CACTGTTTGTGGGAGTGAAGAGGAC -3'
(R):5'- TCCTGCCCAAGATGGATCTTGCTG -3'

Sequencing Primer
(F):5'- TGGGGAACCTCAGACTGGAC -3'
(R):5'- TGCaggaggaggaagaggag -3'
Posted On 2013-05-23