Incidental Mutation 'R5078:Pnp'
ID 386980
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 042667-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R5078 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 51181760-51190869 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 51188963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 252 (L252*)
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 null
Transcript: ENSMUST00000048615
AA Change: L252*
SMART Domains Protein: ENSMUSP00000043926
Gene: ENSMUSG00000115338
AA Change: L252*

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 null
Transcript: ENSMUST00000178092
AA Change: L252*
SMART Domains Protein: ENSMUSP00000136557
Gene: ENSMUSG00000115338
AA Change: L252*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228593
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (53/53)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 T C 16: 4,141,771 (GRCm39) S345G probably benign Het
Adgrf2 A T 17: 43,021,877 (GRCm39) F316I probably damaging Het
Ank2 A G 3: 126,736,002 (GRCm39) probably benign Het
Auts2 T C 5: 132,287,786 (GRCm39) K66E possibly damaging Het
Bicra T C 7: 15,709,382 (GRCm39) D1144G probably damaging Het
Cabin1 A G 10: 75,557,312 (GRCm39) S1109P probably damaging Het
Camkv T C 9: 107,822,572 (GRCm39) V29A probably damaging Het
Ccdc178 A T 18: 22,200,685 (GRCm39) probably null Het
Ccser1 G A 6: 61,288,350 (GRCm39) R171H probably damaging Het
Cdk19 A G 10: 40,312,150 (GRCm39) Y133C probably damaging Het
Cerkl T A 2: 79,223,352 (GRCm39) D123V probably benign Het
Chd1 T C 17: 15,946,616 (GRCm39) S121P possibly damaging Het
Col4a2 T C 8: 11,493,936 (GRCm39) V1459A probably benign Het
Dlg1 T A 16: 31,675,287 (GRCm39) Y704* probably null Het
Dsg2 T C 18: 20,729,140 (GRCm39) probably null Het
Egln3 T C 12: 54,228,453 (GRCm39) R218G probably damaging Het
Gm11568 T C 11: 99,749,181 (GRCm39) C129R unknown Het
Gm13991 T C 2: 116,358,355 (GRCm39) noncoding transcript Het
Gmnc C A 16: 26,784,332 (GRCm39) V58L probably benign Het
Gpx5 A G 13: 21,472,881 (GRCm39) F151S probably damaging Het
Helz G A 11: 107,546,922 (GRCm39) G1079R probably damaging Het
Ice1 T C 13: 70,752,969 (GRCm39) E1039G probably benign Het
Kif18a T C 2: 109,125,487 (GRCm39) probably benign Het
Klhl29 T C 12: 5,143,530 (GRCm39) T500A possibly damaging Het
Lrfn5 A C 12: 61,890,660 (GRCm39) K650Q possibly damaging Het
Lrp2 T C 2: 69,331,874 (GRCm39) D1627G possibly damaging Het
Nxn T C 11: 76,152,433 (GRCm39) K354E probably damaging Het
Or5d20-ps1 T A 2: 87,931,879 (GRCm39) I151L probably benign Het
Pcnx2 T C 8: 126,478,895 (GRCm39) T2118A probably benign Het
Phldb2 A G 16: 45,598,105 (GRCm39) F861L possibly damaging Het
Piezo2 A G 18: 63,157,607 (GRCm39) Y2368H probably damaging Het
Prom2 T C 2: 127,373,757 (GRCm39) Q641R probably benign Het
Prpf31 T C 7: 3,637,702 (GRCm39) S180P possibly damaging Het
Prss27 C A 17: 24,263,414 (GRCm39) Y142* probably null Het
Ripk1 T G 13: 34,201,082 (GRCm39) M265R probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ropn1 T A 16: 34,487,161 (GRCm39) D32E probably damaging Het
Rps23 T C 13: 91,071,822 (GRCm39) F41L probably benign Het
Sec24d A G 3: 123,084,201 (GRCm39) I127V probably benign Het
Selenot C T 3: 58,492,692 (GRCm39) R60W probably damaging Het
Tll1 T C 8: 64,546,921 (GRCm39) K342E probably damaging Het
Tlx1 A T 19: 45,144,460 (GRCm39) N61Y probably damaging Het
Vmn2r117 T A 17: 23,679,122 (GRCm39) I701F probably damaging Het
Zmynd12 A G 4: 119,302,047 (GRCm39) K229E probably damaging 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
R3429:Pnp UTSW 14 51,185,443 (GRCm39) missense probably benign 0.10
R4639:Pnp UTSW 14 51,188,380 (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'- TAGCTAGTAAGGCTACCTGAGAG -3'
(R):5'- TAGAGAGCTACTTGGACCCC -3'

Sequencing Primer
(F):5'- TGGATGCTTTCTGAAATTCAGTGAAC -3'
(R):5'- TACTTGGACCCCACCAGG -3'
Posted On 2016-06-06