Incidental Mutation 'IGL02649:Pnp'
ID302087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnp
Ensembl Gene ENSMUSG00000115338
Gene Namepurine-nucleoside phosphorylase
SynonymsNp, Np-1, Np-2, Pnp, Pnp1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL02649
Quality Score
Status
Chromosome14
Chromosomal Location50931082-50965237 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 50947846 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048615] [ENSMUST00000178092] [ENSMUST00000226871] [ENSMUST00000227052]
Predicted Effect probably benign
Transcript: ENSMUST00000048615
SMART Domains Protein: ENSMUSP00000043926
Gene: ENSMUSG00000115338

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 26 280 5.2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178092
SMART Domains Protein: ENSMUSP00000136557
Gene: ENSMUSG00000115338

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 26 280 2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194838
Predicted Effect probably benign
Transcript: ENSMUST00000226871
Predicted Effect probably benign
Transcript: ENSMUST00000227052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228712
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Nullizygous mice show impaired thymocyte differentiation, T cell function and mitochondrial DNA repair, altered lymphocyte subpopulations and metabolism, and enhanced thymocyte apoptosis and sensitivity to gamma-irradiation. ENU-induced mutants show a gradual decline in T cell number and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A T 11: 116,595,646 I4F probably benign Het
Adamts17 T G 7: 66,849,878 probably benign Het
Adcy1 A T 11: 7,167,156 M1008L probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atrnl1 T G 19: 57,650,441 probably benign Het
Brd3 T A 2: 27,454,350 E456V probably damaging Het
Cabin1 A T 10: 75,737,418 L712H probably damaging Het
Ccna1 T A 3: 55,054,386 T38S probably damaging Het
Chadl T A 15: 81,695,858 I59F probably benign Het
Chmp3 T C 6: 71,552,433 M27T possibly damaging Het
Clcn1 C T 6: 42,298,829 T295I probably damaging Het
Col6a6 A G 9: 105,727,170 probably null Het
Dennd2a T A 6: 39,470,356 H776L probably benign Het
Dimt1 G A 13: 106,948,711 R55K probably benign Het
Dlg5 T A 14: 24,146,251 D1626V probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Hectd4 T C 5: 121,349,402 S3487P possibly damaging Het
Hivep1 T C 13: 42,157,311 V1009A possibly damaging Het
Ifna12 A T 4: 88,602,854 V152E probably damaging Het
Igf2r A T 17: 12,712,087 C903S possibly damaging Het
Ipo9 T C 1: 135,385,934 D1002G possibly damaging Het
Isyna1 T C 8: 70,596,254 S328P probably damaging Het
Lamc1 G A 1: 153,247,042 T764I possibly damaging Het
Lta4h T C 10: 93,472,969 V377A probably benign Het
Lyz2 C T 10: 117,282,185 V20I probably benign Het
Myo3a A T 2: 22,323,607 L329F probably benign Het
Nlgn2 T C 11: 69,825,802 T638A probably benign Het
Oasl2 A G 5: 114,897,692 T10A probably damaging Het
Olfr173 T A 16: 58,797,350 R165S probably damaging Het
Olfr761 A T 17: 37,952,973 F17Y probably damaging Het
Pde10a A T 17: 8,953,772 N296I probably damaging Het
Plb1 A G 5: 32,362,568 I1385M probably benign Het
Pld1 T C 3: 28,087,229 V647A probably damaging Het
Ppl A T 16: 5,087,463 I1656K probably damaging Het
Rimbp3 G T 16: 17,209,608 E299* probably null Het
Sbsn C A 7: 30,753,258 A566D probably damaging Het
Sh3rf1 T A 8: 61,363,191 M494K probably damaging Het
Slc2a2 T A 3: 28,718,736 V226E probably damaging Het
Smarca2 T A 19: 26,640,586 I339N possibly damaging Het
Ssfa2 T C 2: 79,641,959 probably benign Het
Tenm2 G T 11: 36,207,085 S445R possibly damaging Het
Tmem136 C A 9: 43,111,488 K190N probably benign Het
Tnip2 A T 5: 34,513,731 L56Q probably damaging Het
Trpv1 C T 11: 73,250,786 S485F probably damaging Het
Vmn2r23 T C 6: 123,704,478 M115T probably benign Het
Zbtb38 G A 9: 96,686,619 T804I probably damaging Het
Zfhx3 T C 8: 108,793,535 S430P possibly damaging Het
Other mutations in Pnp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Pnp APN 14 50951002 missense probably benign
IGL01824:Pnp APN 14 50951413 missense probably damaging 1.00
IGL03148:Pnp APN 14 50950728 splice site probably benign
Porch UTSW 14 50950923 nonsense probably null
porch2 UTSW 14 50951506 nonsense probably null
R0097:Pnp UTSW 14 50951416 missense probably damaging 1.00
R1510:Pnp UTSW 14 50950585 missense possibly damaging 0.80
R1823:Pnp UTSW 14 50950329 missense probably damaging 1.00
R1864:Pnp UTSW 14 50947973 missense probably benign 0.00
R3429:Pnp UTSW 14 50947986 missense probably benign 0.10
R4639:Pnp UTSW 14 50950923 nonsense probably null
R5078:Pnp UTSW 14 50951506 nonsense probably null
R5982:Pnp UTSW 14 50950543 missense probably damaging 1.00
R6431:Pnp UTSW 14 50951014 missense probably damaging 1.00
R7016:Pnp UTSW 14 50950249 splice site probably null
R7249:Pnp UTSW 14 50951430 missense probably benign 0.11
R7302:Pnp UTSW 14 50950947 missense probably damaging 0.96
R7717:Pnp UTSW 14 50951003 missense probably benign 0.00
Z1088:Pnp UTSW 14 50951495 missense probably benign 0.00
Posted On2015-04-16