Incidental Mutation 'IGL02929:Npm2'
ID 364034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npm2
Ensembl Gene ENSMUSG00000047911
Gene Name nucleophosmin/nucleoplasmin 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02929
Quality Score
Status
Chromosome 14
Chromosomal Location 70884742-70896684 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 70889678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000057365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062629] [ENSMUST00000167242] [ENSMUST00000228473]
AlphaFold Q80W85
Predicted Effect probably null
Transcript: ENSMUST00000062629
SMART Domains Protein: ENSMUSP00000057365
Gene: ENSMUSG00000047911

DomainStartEndE-ValueType
Pfam:Nucleoplasmin 15 201 3.7e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167242
SMART Domains Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100

DomainStartEndE-ValueType
IBN_N 30 96 3.52e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000228473
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330070K13Rik A G 5: 130,413,252 (GRCm39) probably null Het
Abcb5 T C 12: 118,908,674 (GRCm39) Y90C probably damaging Het
Accs T C 2: 93,674,566 (GRCm39) D112G probably damaging Het
Adam32 C A 8: 25,362,659 (GRCm39) V13L possibly damaging Het
Adgrb3 A G 1: 25,592,905 (GRCm39) V294A probably benign Het
Agt G T 8: 125,283,829 (GRCm39) A430E probably benign Het
Agxt2 T C 15: 10,388,379 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,056,116 (GRCm39) I235N probably damaging Het
Atp8b1 T C 18: 64,694,733 (GRCm39) I516M possibly damaging Het
Atrx T C X: 104,923,512 (GRCm39) probably null Het
Brcc3 T C X: 74,479,105 (GRCm39) V117A possibly damaging Het
Casp8ap2 T C 4: 32,624,105 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,892,115 (GRCm39) V286D probably damaging Het
Cpb1 T C 3: 20,329,630 (GRCm39) D32G probably benign Het
Cpsf1 C A 15: 76,486,327 (GRCm39) probably null Het
Dnai4 C T 4: 102,917,188 (GRCm39) W552* probably null Het
Dock2 A T 11: 34,218,048 (GRCm39) V1174E probably damaging Het
Dqx1 A G 6: 83,037,465 (GRCm39) probably benign Het
Ercc1 T C 7: 19,089,288 (GRCm39) probably null Het
Fn1 A G 1: 71,634,821 (GRCm39) probably null Het
Garre1 A T 7: 33,944,507 (GRCm39) M75K possibly damaging Het
Ice1 A G 13: 70,744,322 (GRCm39) L2087P probably damaging Het
Ift122 A G 6: 115,879,838 (GRCm39) D612G probably damaging Het
Igkv6-25 A G 6: 70,192,929 (GRCm39) Y112C probably damaging Het
Kit C A 5: 75,801,429 (GRCm39) P572Q probably damaging Het
Kras A G 6: 145,177,815 (GRCm39) probably benign Het
Ltv1 T C 10: 13,067,970 (GRCm39) K6R possibly damaging Het
Man1a C T 10: 53,801,531 (GRCm39) V443I probably benign Het
Mat2b A C 11: 40,575,540 (GRCm39) D154E probably benign Het
Mtrf1 A G 14: 79,640,273 (GRCm39) K143E probably benign Het
Myh13 A C 11: 67,257,991 (GRCm39) I95L probably damaging Het
Myo7b A T 18: 32,127,978 (GRCm39) D571E probably benign Het
Nek10 T A 14: 14,821,119 (GRCm38) D28E possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plcb2 G A 2: 118,543,715 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,719,810 (GRCm39) M368T probably benign Het
Rnf123 G T 9: 107,946,275 (GRCm39) T300K probably benign Het
Sbspon A G 1: 15,954,069 (GRCm39) probably benign Het
Slc52a2 G A 15: 76,424,776 (GRCm39) C338Y probably benign Het
Tdrd6 T A 17: 43,940,604 (GRCm39) Q148L possibly damaging Het
Tle5 T A 10: 81,400,672 (GRCm39) probably null Het
Trpc3 T A 3: 36,692,623 (GRCm39) K790* probably null Het
Ushbp1 C T 8: 71,847,120 (GRCm39) A171T probably damaging Het
Usp32 T C 11: 84,879,198 (GRCm39) T1504A probably benign Het
Other mutations in Npm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-12-18