Incidental Mutation 'R3429:Pnp'
ID 268029
Institutional Source Beutler Lab
Gene Symbol Pnp
Ensembl Gene ENSMUSG00000115338
Gene Name purine-nucleoside phosphorylase
Synonyms Np, Np-2, Pnp1, Np-1, Pnp
MMRRC Submission 040647-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R3429 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 51181760-51190869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51185443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 49 (D49G)
Ref Sequence ENSEMBL: ENSMUSP00000136557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048615] [ENSMUST00000178092] [ENSMUST00000226871] [ENSMUST00000227052]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000048615
AA Change: D49G

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000043926
Gene: ENSMUSG00000115338
AA Change: D49G

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 26 280 5.2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178092
AA Change: D49G

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000136557
Gene: ENSMUSG00000115338
AA Change: D49G

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 26 280 2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194838
Predicted Effect probably benign
Transcript: ENSMUST00000226871
AA Change: D49G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000227052
AA Change: D71G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228712
Meta Mutation Damage Score 0.1113 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 98% (65/66)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,613,249 (GRCm39) M1K probably null Het
Afap1l2 C A 19: 56,904,238 (GRCm39) R683L probably damaging Het
Ankfy1 C T 11: 72,602,980 (GRCm39) probably benign Het
Aoc1 A T 6: 48,883,010 (GRCm39) E295D probably benign Het
Asah1 C T 8: 41,804,925 (GRCm39) probably benign Het
B4galnt4 T C 7: 140,650,752 (GRCm39) L842P probably damaging Het
Bhmt T C 13: 93,763,855 (GRCm39) E62G probably damaging Het
Btbd10 T A 7: 112,951,016 (GRCm39) R25* probably null Het
Cdh5 T A 8: 104,857,600 (GRCm39) I342N possibly damaging Het
Clca3a2 T A 3: 144,512,088 (GRCm39) E109D probably benign Het
Cntrl T C 2: 35,035,112 (GRCm39) L913S probably damaging Het
Col12a1 T A 9: 79,587,593 (GRCm39) T1183S probably benign Het
Col6a6 A T 9: 105,655,166 (GRCm39) Y852N probably damaging Het
Cpeb2 T C 5: 43,438,573 (GRCm39) probably null Het
Cyp2c66 T A 19: 39,151,892 (GRCm39) N202K probably damaging Het
Dchs1 A G 7: 105,405,711 (GRCm39) V2391A possibly damaging Het
Dgat2 A G 7: 98,806,300 (GRCm39) V299A probably benign Het
Dnah6 G A 6: 73,098,797 (GRCm39) S2034L possibly damaging Het
Eps8l2 G A 7: 140,937,832 (GRCm39) probably null Het
Fgg T A 3: 82,920,090 (GRCm39) F290I probably damaging Het
Filip1 A T 9: 79,760,952 (GRCm39) M194K probably damaging Het
Foxl2 T C 9: 98,838,035 (GRCm39) F108L probably damaging Het
Fut1 T C 7: 45,268,798 (GRCm39) F196L probably damaging Het
Gm10323 A C 13: 67,002,888 (GRCm39) W17G probably damaging Het
Gstz1 T A 12: 87,210,470 (GRCm39) probably null Het
Hacd1 T C 2: 14,049,586 (GRCm39) probably benign Het
Hmcn2 T A 2: 31,299,156 (GRCm39) L2834Q possibly damaging Het
Hs3st3a1 C T 11: 64,327,148 (GRCm39) R86W probably benign Het
Krtap1-4 G C 11: 99,474,020 (GRCm39) probably benign Het
Lmntd2 A G 7: 140,793,910 (GRCm39) V21A probably benign Het
Lonp1 T A 17: 56,925,337 (GRCm39) D485V probably damaging Het
Mia2 A G 12: 59,236,427 (GRCm39) T1346A possibly damaging Het
Mpp2 T C 11: 101,976,141 (GRCm39) T6A probably benign Het
Mycbp2 A T 14: 103,466,866 (GRCm39) V1299E probably damaging Het
Myo1d C T 11: 80,573,236 (GRCm39) G197E probably damaging Het
Nfib T C 4: 82,416,532 (GRCm39) I168V possibly damaging Het
Or2ak5 T A 11: 58,611,097 (GRCm39) Y259F probably damaging Het
Or2b7 A T 13: 21,739,975 (GRCm39) C72* probably null Het
Or2y1e C T 11: 49,218,868 (GRCm39) A210V probably benign Het
Or4c121 T A 2: 89,023,617 (GRCm39) I254L probably benign Het
Or4c29 C T 2: 88,739,810 (GRCm39) R309Q probably benign Het
Parp3 A T 9: 106,351,922 (GRCm39) I150K probably damaging Het
Prkcq T C 2: 11,251,781 (GRCm39) I206T probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rlf A G 4: 121,007,729 (GRCm39) L417P probably benign Het
Scn7a AT ATT 2: 66,531,239 (GRCm39) probably null Het
Sgce T A 6: 4,730,008 (GRCm39) D72V probably benign Het
Sh3d21 A G 4: 126,056,625 (GRCm39) S66P probably benign Het
Sost C G 11: 101,854,865 (GRCm39) G148A probably damaging Het
Sybu T C 15: 44,609,854 (GRCm39) E138G probably damaging Het
Tas1r2 A G 4: 139,396,886 (GRCm39) T742A probably damaging Het
Tet3 A G 6: 83,380,401 (GRCm39) V589A probably damaging Het
Tnxb C A 17: 34,891,605 (GRCm39) C649* probably null Het
Tnxb A G 17: 34,922,561 (GRCm39) Y2458C probably damaging Het
Tsku T C 7: 98,001,746 (GRCm39) N195S probably damaging Het
Vmn1r215 T A 13: 23,260,378 (GRCm39) N139K probably damaging Het
Zfp106 T C 2: 120,357,544 (GRCm39) H1117R probably benign Het
Zfp26 A G 9: 20,352,756 (GRCm39) probably benign Het
Zfp764l1 T C 7: 126,990,914 (GRCm39) T358A possibly damaging Het
Zfp804b T A 5: 7,230,625 (GRCm39) probably benign Het
Zfr T C 15: 12,153,006 (GRCm39) S546P probably benign Het
Other mutations in Pnp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Pnp APN 14 51,188,459 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCTGACAGCCTATGTATGTACTTG -3'
(R):5'- CCTTGATTAGATTCCACATAAGAGC -3'

Sequencing Primer
(F):5'- GTCCTTTAATTCCTAGGTTCACATAC -3'
(R):5'- TGAGGTTTCAGAAGCCCATGC -3'
Posted On 2015-02-18