Incidental Mutation 'IGL02511:Npl'
ID 296565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npl
Ensembl Gene ENSMUSG00000042684
Gene Name N-acetylneuraminate pyruvate lyase
Synonyms 0610033B02Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.353) question?
Stock # IGL02511
Quality Score
Status
Chromosome 1
Chromosomal Location 153378762-153425460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153391227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 176 (D176V)
Ref Sequence ENSEMBL: ENSMUSP00000037454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041874]
AlphaFold Q9DCJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000041874
AA Change: D176V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037454
Gene: ENSMUSG00000042684
AA Change: D176V

DomainStartEndE-ValueType
DHDPS 7 304 1.29e-72 SMART
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,692,111 (GRCm39) probably benign Het
Adam3 T A 8: 25,185,192 (GRCm39) D502V probably damaging Het
Adss2 T C 1: 177,598,700 (GRCm39) probably benign Het
Ankrd36 T A 11: 5,610,845 (GRCm39) probably null Het
Atf6b T C 17: 34,873,615 (GRCm39) S692P probably benign Het
Cap2 T C 13: 46,684,498 (GRCm39) M1T probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntn1 A T 15: 92,114,266 (GRCm39) probably benign Het
Copg2 A T 6: 30,835,757 (GRCm39) F218Y probably benign Het
Dll4 G A 2: 119,156,947 (GRCm39) G73E probably damaging Het
Dzip3 T C 16: 48,757,343 (GRCm39) M897V possibly damaging Het
Ehbp1 T C 11: 22,039,653 (GRCm39) R816G probably damaging Het
Enoph1 T C 5: 100,208,894 (GRCm39) L83P probably benign Het
Enpep A G 3: 129,115,059 (GRCm39) S238P probably damaging Het
Fermt1 A C 2: 132,775,086 (GRCm39) probably benign Het
Gm6619 T A 6: 131,467,330 (GRCm39) I65K possibly damaging Het
Krtap31-2 T A 11: 99,827,518 (GRCm39) C117S possibly damaging Het
Ksr1 T C 11: 78,936,046 (GRCm39) D106G possibly damaging Het
Lgr4 A T 2: 109,841,617 (GRCm39) Y534F probably benign Het
Mamdc2 T C 19: 23,356,095 (GRCm39) T118A probably benign Het
Myo10 T A 15: 25,723,975 (GRCm39) I170N probably damaging Het
Myom2 T C 8: 15,115,743 (GRCm39) S53P probably benign Het
Nrm T C 17: 36,172,316 (GRCm39) S14P probably damaging Het
Or5al7 A G 2: 85,992,363 (GRCm39) I310T probably benign Het
Or5p70 T A 7: 107,995,265 (GRCm39) F313I probably benign Het
Or5v1b A G 17: 37,840,870 (GRCm39) M1V probably null Het
Papola T A 12: 105,775,604 (GRCm39) C204S probably damaging Het
Pard3 A T 8: 127,888,070 (GRCm39) probably benign Het
Pdzd4 T A X: 72,838,206 (GRCm39) M701L probably damaging Het
Pkhd1 A T 1: 20,143,731 (GRCm39) V3865E possibly damaging Het
Plxna3 C A X: 73,378,991 (GRCm39) Q712K probably damaging Het
Pon1 A G 6: 5,193,724 (GRCm39) L9P probably damaging Het
Pygm A T 19: 6,435,718 (GRCm39) I83F probably benign Het
Scyl2 A G 10: 89,476,681 (GRCm39) S815P probably benign Het
Serpina1a C T 12: 103,822,226 (GRCm39) W212* probably null Het
Slc38a9 C A 13: 112,834,541 (GRCm39) D239E possibly damaging Het
Smad6 A G 9: 63,860,859 (GRCm39) F479L probably damaging Het
Smarcc2 T C 10: 128,297,251 (GRCm39) S48P probably damaging Het
Ttn T A 2: 76,768,034 (GRCm39) M3022L unknown Het
Tulp1 C A 17: 28,575,142 (GRCm39) R441L probably benign Het
Ugt1a10 T C 1: 87,983,585 (GRCm39) F128L probably damaging Het
Ulk4 A G 9: 121,017,420 (GRCm39) V686A probably damaging Het
Ush2a T C 1: 188,475,884 (GRCm39) probably null Het
Ushbp1 T C 8: 71,843,581 (GRCm39) M286V probably null Het
Usp51 T G X: 151,791,726 (GRCm39) I440R probably damaging Het
Wee1 G T 7: 109,738,483 (GRCm39) R532L possibly damaging Het
Zfhx4 A G 3: 5,464,243 (GRCm39) E1467G probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp551 A G 7: 12,150,602 (GRCm39) V269A possibly damaging Het
Other mutations in Npl
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2369:Npl UTSW 1 153,394,623 (GRCm39) splice site probably null
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
Posted On 2015-04-16