Incidental Mutation 'IGL01824:Pnp'
ID 154618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnp
Ensembl Gene ENSMUSG00000115338
Gene Name purine-nucleoside phosphorylase
Synonyms Np, Np-2, Pnp1, Np-1, Pnp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL01824
Quality Score
Status
Chromosome 14
Chromosomal Location 51181760-51190869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 51188870 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: ENSMUST00000228631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228593
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: 83,800,497 (GRCm39) R186C probably benign Het
Ankar A G 1: 72,690,886 (GRCm39) V1196A probably benign Het
Asah1 A T 8: 41,802,580 (GRCm39) probably benign Het
Chrm1 T C 19: 8,656,494 (GRCm39) W400R probably damaging Het
Cyp27a1 G T 1: 74,775,040 (GRCm39) E290* probably null Het
Dnah7a T C 1: 53,543,429 (GRCm39) D2247G probably benign Het
Gins4 G A 8: 23,724,784 (GRCm39) Q57* probably null Het
Gli1 T C 10: 127,172,396 (GRCm39) D219G probably benign Het
Greb1 A T 12: 16,761,717 (GRCm39) C554* probably null Het
Gtf2ird2 T C 5: 134,226,123 (GRCm39) probably benign Het
Ifna15 T C 4: 88,476,020 (GRCm39) R155G probably benign Het
Lck T A 4: 129,451,939 (GRCm39) M14L probably benign Het
Megf6 A G 4: 154,336,691 (GRCm39) D322G probably damaging Het
Or4b1b T A 2: 90,112,263 (GRCm39) I219F probably damaging Het
Pcdh18 A T 3: 49,709,223 (GRCm39) D697E probably damaging Het
Ppl A G 16: 4,905,753 (GRCm39) I1514T probably damaging Het
Scnn1g A G 7: 121,365,516 (GRCm39) M523V probably benign Het
Sema4c A G 1: 36,592,110 (GRCm39) Y246H possibly damaging Het
Slco1a5 T A 6: 142,198,763 (GRCm39) I301F probably benign Het
Srebf1 A G 11: 60,094,957 (GRCm39) S446P probably benign Het
Sys1 T G 2: 164,305,225 (GRCm39) L56R probably damaging Het
Trpc7 G T 13: 56,937,535 (GRCm39) Y585* probably null Het
Vmn2r110 T A 17: 20,794,929 (GRCm39) Y580F probably benign Het
Zmym6 G T 4: 127,002,499 (GRCm39) V485F probably damaging Het
Other mutations in Pnp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Pnp APN 14 51,188,459 (GRCm39) missense probably benign
IGL02649:Pnp APN 14 51,185,303 (GRCm39) splice site probably benign
IGL03148:Pnp APN 14 51,188,185 (GRCm39) splice site probably benign
Porch UTSW 14 51,188,380 (GRCm39) nonsense probably null
porch2 UTSW 14 51,188,963 (GRCm39) nonsense probably null
R0097:Pnp UTSW 14 51,188,873 (GRCm39) missense probably damaging 1.00
R1510:Pnp UTSW 14 51,188,042 (GRCm39) missense possibly damaging 0.80
R1823:Pnp UTSW 14 51,187,786 (GRCm39) missense probably damaging 1.00
R1864:Pnp UTSW 14 51,185,430 (GRCm39) missense probably benign 0.00
R3429:Pnp UTSW 14 51,185,443 (GRCm39) missense probably benign 0.10
R4639:Pnp UTSW 14 51,188,380 (GRCm39) nonsense probably null
R5078:Pnp UTSW 14 51,188,963 (GRCm39) nonsense probably null
R5982:Pnp UTSW 14 51,188,000 (GRCm39) missense probably damaging 1.00
R6431:Pnp UTSW 14 51,188,471 (GRCm39) missense probably damaging 1.00
R7016:Pnp UTSW 14 51,187,706 (GRCm39) splice site probably null
R7249:Pnp UTSW 14 51,188,887 (GRCm39) missense probably benign 0.11
R7302:Pnp UTSW 14 51,188,404 (GRCm39) missense probably damaging 0.96
R7717:Pnp UTSW 14 51,188,460 (GRCm39) missense probably benign 0.00
R8348:Pnp UTSW 14 51,185,356 (GRCm39) missense probably benign
R8448:Pnp UTSW 14 51,185,356 (GRCm39) missense probably benign
R8879:Pnp UTSW 14 51,188,177 (GRCm39) critical splice donor site probably null
R9444:Pnp UTSW 14 51,188,052 (GRCm39) missense probably damaging 1.00
R9503:Pnp UTSW 14 51,188,423 (GRCm39) missense probably benign 0.00
Z1088:Pnp UTSW 14 51,188,952 (GRCm39) missense probably benign 0.00
Posted On 2014-02-04