Incidental Mutation 'R4485:Npm2'
ID 331588
Institutional Source Beutler Lab
Gene Symbol Npm2
Ensembl Gene ENSMUSG00000047911
Gene Name nucleophosmin/nucleoplasmin 2
Synonyms
MMRRC Submission 041741-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4485 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 70884742-70896684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70885749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 152 (V152D)
Ref Sequence ENSEMBL: ENSMUSP00000057365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062629] [ENSMUST00000228473]
AlphaFold Q80W85
Predicted Effect possibly damaging
Transcript: ENSMUST00000062629
AA Change: V152D

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057365
Gene: ENSMUSG00000047911
AA Change: V152D

DomainStartEndE-ValueType
Pfam:Nucleoplasmin 15 201 3.7e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000228473
AA Change: V152D

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agxt2 A T 15: 10,378,968 (GRCm39) I190L possibly damaging Het
Ahnak2 A G 12: 112,745,944 (GRCm39) probably benign Het
Apol7b C A 15: 77,307,866 (GRCm39) V210L probably benign Het
Banf2 C T 2: 143,915,772 (GRCm39) T71M probably damaging Het
Cacna1s A G 1: 136,004,590 (GRCm39) D130G probably damaging Het
Capn8 T C 1: 182,426,306 (GRCm39) F214L possibly damaging Het
Ccdc168 A G 1: 44,099,283 (GRCm39) L605S probably benign Het
Cdk5rap2 A T 4: 70,157,520 (GRCm39) probably null Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cpb1 T G 3: 20,303,865 (GRCm39) M400L probably benign Het
Eps15l1 A T 8: 73,153,531 (GRCm39) I52N possibly damaging Het
Gbp9 C G 5: 105,231,674 (GRCm39) G304A probably damaging Het
Gm14226 G A 2: 154,867,191 (GRCm39) V383I probably benign Het
Itprid1 A G 6: 55,864,051 (GRCm39) T126A probably benign Het
Nsd1 T C 13: 55,393,434 (GRCm39) V345A probably benign Het
Or56a3 T A 7: 104,735,808 (GRCm39) V295D probably damaging Het
Or5b107 T C 19: 13,142,855 (GRCm39) V159A possibly damaging Het
Or5b118 T C 19: 13,448,919 (GRCm39) I195T probably benign Het
Or5p58 T C 7: 107,694,222 (GRCm39) D185G probably benign Het
Otof T A 5: 30,532,344 (GRCm39) H1601L possibly damaging Het
Plat G A 8: 23,262,228 (GRCm39) S84N probably benign Het
Prss30 T C 17: 24,192,130 (GRCm39) D224G probably damaging Het
Psg25 C A 7: 18,260,203 (GRCm39) V232F probably damaging Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Pus7l G T 15: 94,421,371 (GRCm39) H646Q probably benign Het
Ryr1 C T 7: 28,789,581 (GRCm39) S1511N probably damaging Het
Slc16a1 A G 3: 104,562,794 (GRCm39) K413R probably benign Het
Snrnp48 T A 13: 38,400,304 (GRCm39) M137K probably benign Het
Tecta T A 9: 42,248,570 (GRCm39) H1944L possibly damaging Het
Tmem145 A G 7: 25,006,587 (GRCm39) E65G possibly damaging Het
Vmn2r87 A T 10: 130,315,678 (GRCm39) Y129* probably null Het
Wdr7 A G 18: 63,910,621 (GRCm39) H671R possibly damaging Het
Zfp219 A G 14: 52,244,841 (GRCm39) V518A probably damaging Het
Zfp472 T C 17: 33,196,542 (GRCm39) W206R possibly 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
R4134:Npm2 UTSW 14 70,885,822 (GRCm39) missense possibly damaging 0.86
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'- CCAAGCCAGAACACTGAGTG -3'
(R):5'- GCTTGCCTGGGAATAAAGTCAG -3'

Sequencing Primer
(F):5'- AACACTGAGTGCTGGGC -3'
(R):5'- CCACAAGAGGCCTGGATTG -3'
Posted On 2015-07-21