Incidental Mutation 'R4134:Npm2'
ID 314821
Institutional Source Beutler Lab
Gene Symbol Npm2
Ensembl Gene ENSMUSG00000047911
Gene Name nucleophosmin/nucleoplasmin 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4134 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 70884742-70896684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70885822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 128 (E128K)
Ref Sequence ENSEMBL: ENSMUSP00000154427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062629] [ENSMUST00000228473]
AlphaFold Q80W85
Predicted Effect possibly damaging
Transcript: ENSMUST00000062629
AA Change: E128K

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057365
Gene: ENSMUSG00000047911
AA Change: E128K

DomainStartEndE-ValueType
Pfam:Nucleoplasmin 15 201 3.7e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000228473
AA Change: E128K

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Female mice homozygous for disruptions in this gene display reduced fertility. While egg maturation and fertilization are grossly normal, cleavage to the two cell stage or beyond is apparently abnormal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ces1g T C 8: 94,046,500 (GRCm39) T342A probably benign Het
Clip2 A G 5: 134,521,107 (GRCm39) V977A probably benign Het
Cnot11 T C 1: 39,576,629 (GRCm39) V211A probably benign Het
Dcaf12l1 T C X: 43,878,330 (GRCm39) N156S probably damaging Het
Dennd2d T A 3: 106,389,977 (GRCm39) D2E probably benign Het
F2 T C 2: 91,459,553 (GRCm39) D410G possibly damaging Het
Gabrb3 G T 7: 57,241,036 (GRCm39) A5S probably benign Het
Gcnt2 T A 13: 41,041,283 (GRCm39) N147K probably damaging Het
Greb1l T C 18: 10,529,708 (GRCm39) probably null Het
Gtdc1 A G 2: 44,715,430 (GRCm39) W38R probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hspg2 A T 4: 137,283,968 (GRCm39) Q3446L probably damaging Het
Htr5a A G 5: 28,047,690 (GRCm39) M82V probably benign Het
Itgb4 G T 11: 115,897,296 (GRCm39) G1454V probably benign Het
Lrrc9 T C 12: 72,513,740 (GRCm39) S534P probably benign Het
Nkx6-1 T A 5: 101,807,371 (GRCm39) D337V probably damaging Het
Nyap2 A G 1: 81,218,908 (GRCm39) D310G probably damaging Het
Or2l13b T A 16: 19,349,452 (GRCm39) I73F possibly damaging Het
Or4l1 T C 14: 50,166,272 (GRCm39) H243R probably damaging Het
Pum1 A T 4: 130,491,380 (GRCm39) I770F probably damaging Het
Rreb1 A T 13: 38,131,099 (GRCm39) N1418Y probably damaging Het
Syt9 A G 7: 107,035,630 (GRCm39) S216G probably benign Het
Tep1 G A 14: 51,082,317 (GRCm39) H1120Y probably benign Het
Ttn T A 2: 76,715,138 (GRCm39) probably benign Het
Vmn1r8 A G 6: 57,013,705 (GRCm39) D252G probably benign Het
Vwa5b1 A T 4: 138,321,641 (GRCm39) M384K possibly damaging Het
Zfhx2 G A 14: 55,302,600 (GRCm39) P1795S possibly damaging Het
Zfhx4 T C 3: 5,308,687 (GRCm39) S638P probably damaging Het
Zfp677 A G 17: 21,618,043 (GRCm39) T367A probably benign Het
Zfp729a C A 13: 67,767,925 (GRCm39) C768F probably damaging Het
Zfp810 T C 9: 22,190,369 (GRCm39) K180E probably damaging Het
Other mutations in Npm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02929:Npm2 APN 14 70,889,678 (GRCm39) critical splice acceptor site probably null
IGL03120:Npm2 APN 14 70,890,039 (GRCm39) utr 5 prime probably benign
R0410:Npm2 UTSW 14 70,889,993 (GRCm39) missense probably benign 0.15
R1172:Npm2 UTSW 14 70,889,661 (GRCm39) nonsense probably null
R2179:Npm2 UTSW 14 70,885,749 (GRCm39) missense probably benign 0.02
R3714:Npm2 UTSW 14 70,890,060 (GRCm39) splice site probably null
R4485:Npm2 UTSW 14 70,885,749 (GRCm39) missense possibly damaging 0.87
R4818:Npm2 UTSW 14 70,889,842 (GRCm39) missense probably benign 0.04
R5760:Npm2 UTSW 14 70,886,935 (GRCm39) missense probably damaging 1.00
R7807:Npm2 UTSW 14 70,889,947 (GRCm39) splice site probably null
R8819:Npm2 UTSW 14 70,885,768 (GRCm39) missense probably damaging 1.00
R8820:Npm2 UTSW 14 70,885,768 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTGAGAGGTGCAGAGCTC -3'
(R):5'- TGTCCTACTGCAGAAGGTGAAC -3'

Sequencing Primer
(F):5'- AGGTCTTGGCTTGTCCCAG -3'
(R):5'- TGCAGAAGGTGAACCCTCTC -3'
Posted On 2015-05-14