Incidental Mutation 'IGL03148:Pnp'
ID410990
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: 0.168) question?
Stock #IGL03148
Quality Score
Status
Chromosome14
Chromosomal Location50931082-50965237 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 50950728 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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A G 11: 99,837,253 S255P unknown Het
Adamtsl2 T A 2: 27,084,059 Y125N probably damaging Het
Ankrd9 T C 12: 110,976,859 E214G probably benign Het
Bhmt2 T A 13: 93,666,653 D124V possibly damaging Het
Ccdc150 A G 1: 54,278,715 H271R possibly damaging Het
Clcn1 T G 6: 42,299,991 probably null Het
Col6a3 T A 1: 90,827,866 I234F probably benign Het
Cpa5 T A 6: 30,630,437 M330K probably damaging Het
Csmd2 G A 4: 128,384,269 C995Y probably damaging Het
D630003M21Rik T C 2: 158,217,224 E252G probably damaging Het
Dhrs1 A T 14: 55,741,291 Y133* probably null Het
Dock10 T C 1: 80,540,358 I1300V probably benign Het
Efcab12 T C 6: 115,810,991 Y670C probably damaging Het
Frg1 T G 8: 41,411,284 K66N probably benign Het
Gbp2b C A 3: 142,606,881 H342N probably benign Het
Gm3259 A G 5: 95,341,318 T207A possibly damaging Het
Gria4 T A 9: 4,464,295 I556F possibly damaging Het
Kcnh1 T G 1: 192,276,999 I287S probably damaging Het
Map1b A G 13: 99,441,695 L150P probably damaging Het
Map3k4 C T 17: 12,238,158 R1299Q probably benign Het
Mapk10 T C 5: 102,926,105 N407D probably damaging Het
Mcemp1 T A 8: 3,667,390 probably null Het
Nav1 A C 1: 135,470,024 N802K possibly damaging Het
Pcdhb2 T A 18: 37,296,778 N601K probably damaging Het
Pi4ka T A 16: 17,354,189 H564L probably damaging Het
Ppp2r2a G T 14: 67,022,295 N317K probably benign Het
Rars2 A T 4: 34,650,243 I343F possibly damaging Het
Rnf213 T C 11: 119,465,007 F4092S probably damaging Het
Tcp11 A G 17: 28,070,470 V209A possibly damaging Het
Tet2 T C 3: 133,481,363 S1102G probably benign Het
Wdr92 G A 11: 17,229,845 G282E probably 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
IGL02649:Pnp APN 14 50947846 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 On2016-08-02