Incidental Mutation 'R1477:Pnp2'
ID 164151
Institutional Source Beutler Lab
Gene Symbol Pnp2
Ensembl Gene ENSMUSG00000068417
Gene Name purine-nucleoside phosphorylase 2
Synonyms
MMRRC Submission 039530-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R1477 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 51193598-51202206 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51196992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 26 (E26G)
Ref Sequence ENSEMBL: ENSMUSP00000093615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095925] [ENSMUST00000178092] [ENSMUST00000227052]
AlphaFold Q9D8C9
Predicted Effect probably benign
Transcript: ENSMUST00000095925
AA Change: E26G

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417
AA Change: E26G

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 41 295 4.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178092
SMART Domains Protein: ENSMUSP00000136557
Gene: ENSMUSG00000115338

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 26 280 2e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228593
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 A C 19: 55,279,904 (GRCm39) D481A probably benign Het
Adam2 A C 14: 66,315,149 (GRCm39) L8R possibly damaging Het
Ajm1 G C 2: 25,469,765 (GRCm39) H49D possibly damaging Het
Arfgef1 A T 1: 10,259,509 (GRCm39) C619S probably damaging Het
Atm A G 9: 53,375,573 (GRCm39) I2082T probably benign Het
Cgrrf1 A G 14: 47,090,895 (GRCm39) I210M probably benign Het
Clec2e A T 6: 129,072,163 (GRCm39) V72E probably benign Het
Cmtr1 T C 17: 29,916,131 (GRCm39) V587A possibly damaging Het
Col1a2 T C 6: 4,539,673 (GRCm39) F1314L unknown Het
Ctbp2 T C 7: 132,600,670 (GRCm39) E618G probably damaging Het
Dnaaf6rt G A 1: 31,262,104 (GRCm39) V29M probably benign Het
Dock8 A T 19: 25,072,914 (GRCm39) Y398F possibly damaging Het
Ezh1 A T 11: 101,083,810 (GRCm39) D733E probably damaging Het
Fbxl6 A G 15: 76,421,934 (GRCm39) S202P probably benign Het
Fcgbpl1 C A 7: 27,856,518 (GRCm39) Q2102K probably benign Het
Grid2ip G A 5: 143,361,340 (GRCm39) A191T probably damaging Het
Helz2 T C 2: 180,874,597 (GRCm39) S1966G probably benign Het
Ipmk A G 10: 71,217,607 (GRCm39) K385E probably damaging Het
Itga11 G A 9: 62,662,493 (GRCm39) V489I probably benign Het
Klhl6 T C 16: 19,784,727 (GRCm39) K137R probably benign Het
Meis1 G A 11: 18,831,665 (GRCm39) Q458* probably null Het
Mst1r T C 9: 107,785,523 (GRCm39) S394P probably benign Het
Mus81 G T 19: 5,536,362 (GRCm39) H155Q probably benign Het
Neb G A 2: 52,154,134 (GRCm39) L2326F probably damaging Het
Nf1 C T 11: 79,286,685 (GRCm39) Q162* probably null Het
Nin T C 12: 70,090,958 (GRCm39) E819G possibly damaging Het
Nox4 T C 7: 86,945,074 (GRCm39) V79A probably benign Het
Or11g2 A T 14: 50,856,170 (GRCm39) I164F probably damaging Het
Or13a28 T A 7: 140,218,355 (GRCm39) I247N possibly damaging Het
Or5ae2 T A 7: 84,506,225 (GRCm39) I216N probably damaging Het
Or6d12 A T 6: 116,493,626 (GRCm39) Y296F probably damaging Het
Peg3 T A 7: 6,719,141 (GRCm39) D69V probably damaging Het
Pnpt1 T A 11: 29,087,102 (GRCm39) C154S probably benign Het
Ppp1r26 C T 2: 28,342,800 (GRCm39) T810I probably benign Het
Ppp2r5b A G 19: 6,280,257 (GRCm39) S349P probably benign Het
Prdm4 C T 10: 85,740,129 (GRCm39) V424I probably benign Het
Rraga A G 4: 86,494,996 (GRCm39) I281V probably benign Het
Sall1 T C 8: 89,759,510 (GRCm39) E198G probably damaging Het
Serpina9 T C 12: 103,963,362 (GRCm39) D382G possibly damaging Het
Stt3b A G 9: 115,095,260 (GRCm39) V257A probably damaging Het
Taf2 A T 15: 54,925,568 (GRCm39) Y225N possibly damaging Het
Tlr3 A G 8: 45,851,202 (GRCm39) L41P probably damaging Het
Trappc12 A T 12: 28,787,751 (GRCm39) V444E probably benign Het
Trim34a T A 7: 103,897,287 (GRCm39) V117D possibly damaging Het
Ttbk1 A C 17: 46,787,725 (GRCm39) M259R probably benign Het
Ttll12 A G 15: 83,464,303 (GRCm39) V509A probably damaging Het
Ush2a G A 1: 188,581,273 (GRCm39) V3718M probably benign Het
Vps35 T A 8: 86,014,429 (GRCm39) E73D probably damaging Het
Zfp790 C T 7: 29,522,525 (GRCm39) probably benign Het
Other mutations in Pnp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02025:Pnp2 APN 14 51,197,010 (GRCm39) missense probably damaging 1.00
IGL02418:Pnp2 APN 14 51,201,293 (GRCm39) missense possibly damaging 0.51
IGL03216:Pnp2 APN 14 51,200,654 (GRCm39) missense probably benign 0.01
IGL03388:Pnp2 APN 14 51,200,995 (GRCm39) missense probably damaging 1.00
R0049:Pnp2 UTSW 14 51,196,990 (GRCm39) nonsense probably null
R0097:Pnp2 UTSW 14 51,200,958 (GRCm39) missense probably benign 0.08
R0123:Pnp2 UTSW 14 51,200,634 (GRCm39) missense probably damaging 1.00
R0134:Pnp2 UTSW 14 51,200,634 (GRCm39) missense probably damaging 1.00
R0158:Pnp2 UTSW 14 51,201,761 (GRCm39) missense probably damaging 1.00
R1820:Pnp2 UTSW 14 51,201,914 (GRCm39) missense possibly damaging 0.93
R1934:Pnp2 UTSW 14 51,193,675 (GRCm39) missense probably benign
R2138:Pnp2 UTSW 14 51,201,161 (GRCm39) missense probably damaging 1.00
R3843:Pnp2 UTSW 14 51,200,878 (GRCm39) missense probably null 1.00
R4355:Pnp2 UTSW 14 51,197,082 (GRCm39) missense probably benign
R4938:Pnp2 UTSW 14 51,201,025 (GRCm39) splice site probably null
R5516:Pnp2 UTSW 14 51,201,195 (GRCm39) missense probably benign 0.33
R5636:Pnp2 UTSW 14 51,193,649 (GRCm39) splice site probably null
R6396:Pnp2 UTSW 14 51,200,616 (GRCm39) missense probably damaging 1.00
R7117:Pnp2 UTSW 14 51,201,931 (GRCm39) makesense probably null
R7862:Pnp2 UTSW 14 51,201,016 (GRCm39) missense possibly damaging 0.95
R7934:Pnp2 UTSW 14 51,201,903 (GRCm39) missense probably benign 0.00
R8057:Pnp2 UTSW 14 51,201,838 (GRCm39) missense probably benign 0.06
R8104:Pnp2 UTSW 14 51,197,099 (GRCm39) missense probably benign 0.00
R8488:Pnp2 UTSW 14 51,201,836 (GRCm39) missense possibly damaging 0.79
R8519:Pnp2 UTSW 14 51,201,842 (GRCm39) missense probably damaging 1.00
R8791:Pnp2 UTSW 14 51,200,873 (GRCm39) missense probably benign 0.00
R8916:Pnp2 UTSW 14 51,201,234 (GRCm39) missense probably damaging 1.00
R9592:Pnp2 UTSW 14 51,196,981 (GRCm39) nonsense probably null
R9592:Pnp2 UTSW 14 51,196,979 (GRCm39) missense probably damaging 0.99
R9762:Pnp2 UTSW 14 51,197,006 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCACTGCGTCATAAACCTGGTTCC -3'
(R):5'- AGTCCAGCCAGTACCTGTGCTTTG -3'

Sequencing Primer
(F):5'- ACTTAGCGGCAGAGCACTTG -3'
(R):5'- GGGGAAAGTTGGGTATCTCATTG -3'
Posted On 2014-03-28