Incidental Mutation 'R3878:Nsa2'
ID 276957
Institutional Source Beutler Lab
Gene Symbol Nsa2
Ensembl Gene ENSMUSG00000060739
Gene Name NSA2 ribosome biogenesis homolog
Synonyms Yr29, 5730427N09Rik, LNR42, Nsa2p
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3878 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 97265935-97274434 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 97268542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 175 (G175A)
Ref Sequence ENSEMBL: ENSMUSP00000073161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042517] [ENSMUST00000073456] [ENSMUST00000169863] [ENSMUST00000225410]
AlphaFold Q9CR47
Predicted Effect probably benign
Transcript: ENSMUST00000042517
SMART Domains Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817

DomainStartEndE-ValueType
low complexity region 374 386 N/A INTRINSIC
low complexity region 602 619 N/A INTRINSIC
low complexity region 630 642 N/A INTRINSIC
low complexity region 650 663 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073456
AA Change: G175A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000073161
Gene: ENSMUSG00000060739
AA Change: G175A

DomainStartEndE-ValueType
Pfam:Ribosomal_S8e 1 259 1.3e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169863
SMART Domains Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817

DomainStartEndE-ValueType
low complexity region 374 386 N/A INTRINSIC
low complexity region 602 619 N/A INTRINSIC
low complexity region 630 642 N/A INTRINSIC
low complexity region 650 663 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224980
Predicted Effect probably benign
Transcript: ENSMUST00000225410
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik C T 2: 130,247,560 (GRCm39) T32M probably benign Het
A2ml1 T C 6: 128,531,324 (GRCm39) S915G probably benign Het
Ablim1 T C 19: 57,025,642 (GRCm39) probably null Het
Atosb T G 4: 43,035,867 (GRCm39) H288P probably damaging Het
Cadm2 C T 16: 66,612,329 (GRCm39) E78K probably damaging Het
Ceacam5 C T 7: 17,484,506 (GRCm39) P416L probably damaging Het
Chsy3 T C 18: 59,542,845 (GRCm39) F661S probably damaging Het
Clstn3 G A 6: 124,434,901 (GRCm39) T338I probably damaging Het
Ctif A G 18: 75,653,048 (GRCm39) I403T probably damaging Het
Dnaaf9 T C 2: 130,620,423 (GRCm39) R237G possibly damaging Het
Eprs1 T A 1: 185,148,150 (GRCm39) probably null Het
Frs2 A C 10: 116,914,815 (GRCm39) S35A probably benign Het
Gpr155 C T 2: 73,198,736 (GRCm39) W394* probably null Het
Ift140 G A 17: 25,247,918 (GRCm39) V259M probably benign Het
Igkv9-124 A T 6: 67,919,191 (GRCm39) S74T probably benign Het
Krt14 C T 11: 100,097,915 (GRCm39) V123M possibly damaging Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Nebl T C 2: 17,398,063 (GRCm39) T457A possibly damaging Het
Nlrp4g A G 9: 124,349,362 (GRCm38) noncoding transcript Het
Or8k40 T C 2: 86,584,972 (GRCm39) T37A probably benign Het
Pax1 A T 2: 147,204,228 (GRCm39) probably benign Het
Pdzd2 T C 15: 12,376,262 (GRCm39) E1291G probably benign Het
Relb G A 7: 19,351,769 (GRCm39) H115Y probably damaging Het
Rnase10 A G 14: 51,246,889 (GRCm39) E52G probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc14a2 C T 18: 78,202,289 (GRCm39) V614I probably benign Het
Slc20a2 T C 8: 23,058,399 (GRCm39) L645P possibly damaging Het
Smoc2 A G 17: 14,545,879 (GRCm39) D56G probably damaging Het
Szt2 A G 4: 118,247,782 (GRCm39) S789P probably damaging Het
Tenm2 A G 11: 36,030,401 (GRCm39) probably null Het
Tm9sf3 A G 19: 41,235,152 (GRCm39) V169A probably damaging Het
Trbv13-1 C T 6: 41,093,322 (GRCm39) T86I probably benign Het
Trim24 A G 6: 37,941,708 (GRCm39) D886G probably benign Het
Trim33 A G 3: 103,259,321 (GRCm39) I1003M probably damaging Het
Trim37 T C 11: 87,096,828 (GRCm39) V777A probably benign Het
Ttc7 A C 17: 87,678,166 (GRCm39) probably benign Het
Ttn T C 2: 76,596,364 (GRCm39) D11856G possibly damaging Het
Vmn1r226 A T 17: 20,908,260 (GRCm39) D164V possibly damaging Het
Vmn1r34 G A 6: 66,614,552 (GRCm39) T62I possibly damaging Het
Wapl T C 14: 34,414,104 (GRCm39) L322P probably damaging Het
Zfp62 A G 11: 49,105,960 (GRCm39) D17G probably damaging Het
Other mutations in Nsa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Nsa2 APN 13 97,268,525 (GRCm39) missense probably damaging 1.00
R3783:Nsa2 UTSW 13 97,272,042 (GRCm39) missense possibly damaging 0.93
R3784:Nsa2 UTSW 13 97,272,042 (GRCm39) missense possibly damaging 0.93
R3786:Nsa2 UTSW 13 97,272,042 (GRCm39) missense possibly damaging 0.93
R3787:Nsa2 UTSW 13 97,272,042 (GRCm39) missense possibly damaging 0.93
R7466:Nsa2 UTSW 13 97,267,728 (GRCm39) missense probably benign 0.08
R9274:Nsa2 UTSW 13 97,272,170 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGTGTCACAAGGCCCAGC -3'
(R):5'- CCACTAGTGAGCTATGGCCG -3'

Sequencing Primer
(F):5'- GCTCGCTCACATTCACTTCAATAAC -3'
(R):5'- CAAGCGTTGACATAATGGTCGTAC -3'
Posted On 2015-04-06