Incidental Mutation 'IGL00918:Pnp'
ID 28941
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 # IGL00918
Quality Score
Status
Chromosome 14
Chromosomal Location 51181760-51190869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51188459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 233 (M233K)
Ref Sequence ENSEMBL: ENSMUSP00000154171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048615] [ENSMUST00000095925] [ENSMUST00000178092] [ENSMUST00000226871] [ENSMUST00000227052]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000048615
AA Change: M211K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043926
Gene: ENSMUSG00000115338
AA Change: M211K

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 benign
Transcript: ENSMUST00000178092
AA Change: M211K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136557
Gene: ENSMUSG00000115338
AA Change: M211K

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
AA Change: M233K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 G A 7: 144,198,489 (GRCm39) probably benign Het
C6 T C 15: 4,764,739 (GRCm39) L145P possibly damaging Het
Cfap43 A T 19: 47,885,100 (GRCm39) L505H probably damaging Het
Irag2 A G 6: 145,113,720 (GRCm39) E296G probably damaging Het
Plekhg6 T A 6: 125,349,514 (GRCm39) E361V probably null Het
Ptpre T C 7: 135,260,782 (GRCm39) S140P probably damaging Het
Rgs3 C T 4: 62,619,304 (GRCm39) T463I probably damaging Het
Rragc T C 4: 123,813,636 (GRCm39) probably benign Het
Taar6 C A 10: 23,861,480 (GRCm39) C22F probably damaging Het
Taok2 T A 7: 126,471,583 (GRCm39) Q532L probably damaging Het
Tas2r130 T C 6: 131,607,234 (GRCm39) N187S probably damaging Het
Other mutations in Pnp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01824:Pnp APN 14 51,188,870 (GRCm39) missense probably damaging 1.00
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 2013-04-17