Incidental Mutation 'IGL01824:Pnp'
ID154618
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: 0.134) question?
Stock #IGL01824
Quality Score
Status
Chromosome14
Chromosomal Location50931082-50965237 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 50951413 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 221 (T221I)
Ref Sequence ENSEMBL: ENSMUSP00000136557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048615] [ENSMUST00000095925] [ENSMUST00000178092] [ENSMUST00000226871] [ENSMUST00000227052]
Predicted Effect probably damaging
Transcript: ENSMUST00000048615
AA Change: T221I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043926
Gene: ENSMUSG00000115338
AA Change: T221I

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 26 280 5.2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095925
SMART Domains Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 41 295 4.9e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178092
AA Change: T221I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136557
Gene: ENSMUSG00000115338
AA Change: T221I

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: ENSMUST00000228593
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c G A 7: 84,151,289 R186C probably benign Het
Ankar A G 1: 72,651,727 V1196A probably benign Het
Asah1 A T 8: 41,349,543 probably benign Het
Chrm1 T C 19: 8,679,130 W400R probably damaging Het
Cyp27a1 G T 1: 74,735,881 E290* probably null Het
Dnah7a T C 1: 53,504,270 D2247G probably benign Het
Gins4 G A 8: 23,234,768 Q57* probably null Het
Gli1 T C 10: 127,336,527 D219G probably benign Het
Greb1 A T 12: 16,711,716 C554* probably null Het
Gtf2ird2 T C 5: 134,197,282 probably benign Het
Ifna15 T C 4: 88,557,783 R155G probably benign Het
Lck T A 4: 129,558,146 M14L probably benign Het
Megf6 A G 4: 154,252,234 D322G probably damaging Het
Olfr1272 T A 2: 90,281,919 I219F probably damaging Het
Pcdh18 A T 3: 49,754,774 D697E probably damaging Het
Ppl A G 16: 5,087,889 I1514T probably damaging Het
Scnn1g A G 7: 121,766,293 M523V probably benign Het
Sema4c A G 1: 36,553,029 Y246H possibly damaging Het
Slco1a5 T A 6: 142,253,037 I301F probably benign Het
Srebf1 A G 11: 60,204,131 S446P probably benign Het
Sys1 T G 2: 164,463,305 L56R probably damaging Het
Trpc7 G T 13: 56,789,722 Y585* probably null Het
Vmn2r110 T A 17: 20,574,667 Y580F probably benign Het
Zmym6 G T 4: 127,108,706 V485F probably damaging Het
Other mutations in Pnp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Pnp APN 14 50951002 missense probably benign
IGL02649:Pnp APN 14 50947846 splice site probably benign
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
Z1088:Pnp UTSW 14 50951495 missense probably benign 0.00
Posted On2014-02-04