Incidental Mutation 'R2369:Npl'
ID 246419
Institutional Source Beutler Lab
Gene Symbol Npl
Ensembl Gene ENSMUSG00000042684
Gene Name N-acetylneuraminate pyruvate lyase
Synonyms 0610033B02Rik
MMRRC Submission 040349-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.353) question?
Stock # R2369 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 153378762-153425460 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 153394623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041874]
AlphaFold Q9DCJ9
Predicted Effect probably null
Transcript: ENSMUST00000041874
SMART Domains Protein: ENSMUSP00000037454
Gene: ENSMUSG00000042684

DomainStartEndE-ValueType
DHDPS 7 304 1.29e-72 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in increased serum cholesterol levels and immunological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,421,950 (GRCm39) N109Y possibly damaging Het
9230112D13Rik A T 14: 34,233,913 (GRCm39) I126N unknown Het
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Ahcyl1 T C 3: 107,577,556 (GRCm39) D288G probably damaging Het
Atxn7l1 T C 12: 33,408,849 (GRCm39) probably null Het
Ccdc33 A T 9: 57,983,913 (GRCm39) S220T probably benign Het
Celsr3 G A 9: 108,719,751 (GRCm39) R2450H probably benign Het
Cubn T A 2: 13,496,028 (GRCm39) K69N probably damaging Het
Dclk3 A G 9: 111,317,610 (GRCm39) R749G probably benign Het
Dip2a T C 10: 76,149,030 (GRCm39) N207S probably benign Het
Dok6 G C 18: 89,432,988 (GRCm39) R274G probably null Het
Esco2 G A 14: 66,059,189 (GRCm39) A496V probably damaging Het
Gbp5 A T 3: 142,206,480 (GRCm39) M55L possibly damaging Het
Grik5 T C 7: 24,757,962 (GRCm39) Y373C probably damaging Het
Hbs1l T A 10: 21,183,644 (GRCm39) S128R probably benign Het
Ing3 A G 6: 21,950,090 (GRCm39) M28V probably damaging Het
Lmtk3 A T 7: 45,444,512 (GRCm39) probably benign Het
Met G A 6: 17,531,527 (GRCm39) V602I probably benign Het
Ndufaf7 C A 17: 79,252,461 (GRCm39) A290E probably damaging Het
Notch4 A G 17: 34,804,924 (GRCm39) Q1593R probably benign Het
Paqr6 T C 3: 88,273,260 (GRCm39) L84P probably damaging Het
Pros1 A G 16: 62,748,432 (GRCm39) Y635C probably damaging Het
Rad1 C A 15: 10,486,745 (GRCm39) N47K probably damaging Het
Rassf4 A G 6: 116,615,258 (GRCm39) F304L probably damaging Het
Tmem232 A T 17: 65,709,992 (GRCm39) V432E probably damaging Het
Wdr72 A G 9: 74,117,457 (GRCm39) K723R possibly damaging Het
Xpo7 G A 14: 70,925,171 (GRCm39) R493* probably null Het
Zfp11 G A 5: 129,733,529 (GRCm39) P644L probably benign Het
Other mutations in Npl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02511:Npl APN 1 153,391,227 (GRCm39) missense probably damaging 0.99
R0131:Npl UTSW 1 153,384,864 (GRCm39) nonsense probably null
R0131:Npl UTSW 1 153,384,864 (GRCm39) nonsense probably null
R0132:Npl UTSW 1 153,384,864 (GRCm39) nonsense probably null
R0479:Npl UTSW 1 153,391,155 (GRCm39) missense probably damaging 0.98
R3723:Npl UTSW 1 153,391,210 (GRCm39) missense probably benign 0.22
R4655:Npl UTSW 1 153,391,152 (GRCm39) missense probably damaging 1.00
R5088:Npl UTSW 1 153,384,890 (GRCm39) missense possibly damaging 0.88
R5818:Npl UTSW 1 153,411,661 (GRCm39) missense probably damaging 1.00
R5837:Npl UTSW 1 153,379,271 (GRCm39) missense probably benign 0.00
R6010:Npl UTSW 1 153,388,314 (GRCm39) nonsense probably null
R6301:Npl UTSW 1 153,394,627 (GRCm39) critical splice donor site probably null
R7418:Npl UTSW 1 153,413,257 (GRCm39) splice site probably null
R7990:Npl UTSW 1 153,413,230 (GRCm39) missense possibly damaging 0.94
R8004:Npl UTSW 1 153,379,286 (GRCm39) missense probably benign 0.18
R9683:Npl UTSW 1 153,421,030 (GRCm39) missense possibly damaging 0.55
X0065:Npl UTSW 1 153,413,218 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAATTTCTTGATGGAAGGCTTAGG -3'
(R):5'- TGTCTGCATCTCACTGAACC -3'

Sequencing Primer
(F):5'- CAATACTTGGGTTTTGGACAAATGGC -3'
(R):5'- TCACTGAACCATTTCCTAATGCAG -3'
Posted On 2014-10-30