Incidental Mutation 'R5818:Npl'
ID449140
Institutional Source Beutler Lab
Gene Symbol Npl
Ensembl Gene ENSMUSG00000042684
Gene NameN-acetylneuraminate pyruvate lyase
Synonyms0610033B02Rik
MMRRC Submission 043398-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.426) question?
Stock #R5818 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location153503015-153550045 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 153535915 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 63 (R63C)
Ref Sequence ENSEMBL: ENSMUSP00000037454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041874]
Predicted Effect probably damaging
Transcript: ENSMUST00000041874
AA Change: R63C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037454
Gene: ENSMUSG00000042684
AA Change: R63C

DomainStartEndE-ValueType
DHDPS 7 304 1.29e-72 SMART
Meta Mutation Damage Score 0.718 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 100% (64/64)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,219,643 V560D probably damaging Het
Actn4 A G 7: 28,919,019 I72T probably damaging Het
Adam33 A T 2: 131,054,358 C440S possibly damaging Het
Bace1 T C 9: 45,859,049 I361T possibly damaging Het
Bend6 T C 1: 33,883,573 probably benign Het
Bpifb9a T G 2: 154,262,295 N219K probably damaging Het
Cacna1g C A 11: 94,418,120 K1634N probably damaging Het
Ccdc155 C T 7: 45,193,959 probably null Het
Cdk18 A G 1: 132,119,098 probably null Het
Chrng G A 1: 87,209,801 V320I probably benign Het
Corin G T 5: 72,435,395 H87N probably benign Het
Cps1 A T 1: 67,166,488 I557F possibly damaging Het
Cyp4a29 T C 4: 115,247,032 V99A possibly damaging Het
Dach1 T C 14: 98,168,684 D209G probably damaging Het
Dgat1 G A 15: 76,502,207 probably benign Het
Fbxw26 G T 9: 109,732,566 R187S probably benign Het
Gabrd G A 4: 155,388,361 P122S probably damaging Het
Gm11677 C T 11: 111,724,711 noncoding transcript Het
Gm8300 T G 12: 87,517,060 V55G possibly damaging Het
Hif1a A G 12: 73,939,564 Q343R possibly damaging Het
Hyou1 G A 9: 44,388,926 probably null Het
Igfn1 A T 1: 135,966,126 I2072K possibly damaging Het
Kctd8 C T 5: 69,296,711 A328T probably benign Het
Krt10 A G 11: 99,388,771 Y188H probably damaging Het
Krtap4-16 T A 11: 99,851,523 Q17L unknown Het
Larp4b T A 13: 9,158,560 S416R probably benign Het
Lmtk2 G A 5: 144,156,900 V232M probably benign Het
Mroh4 A G 15: 74,611,982 I571T probably damaging Het
Myo15 G A 11: 60,497,951 R2021Q probably benign Het
Ntn4 A G 10: 93,644,764 I80V probably benign Het
Numb C T 12: 83,825,254 probably null Het
Nusap1 A C 2: 119,635,513 M205L possibly damaging Het
Olfr149 T C 9: 39,702,365 S135G probably benign Het
Onecut2 T A 18: 64,340,975 M180K possibly damaging Het
Pmfbp1 T C 8: 109,538,679 probably null Het
Ppfia1 T C 7: 144,520,568 probably benign Het
Ppm1b A G 17: 84,993,719 K9R probably benign Het
Rab11fip3 T C 17: 26,016,116 S608G probably damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 probably benign Het
Sohlh2 A G 3: 55,190,501 T125A probably damaging Het
Ssfa2 T A 2: 79,644,593 S299T probably damaging Het
Tet1 C A 10: 62,816,408 M1610I possibly damaging Het
Tgfbr3 A T 5: 107,133,003 D630E probably benign Het
Thnsl2 T C 6: 71,134,143 D247G probably benign Het
Tmem198b G A 10: 128,802,188 R169W probably benign Het
Tmem201 G A 4: 149,727,392 A332V probably benign Het
Tsku T C 7: 98,352,098 D342G possibly damaging Het
Ucn2 A T 9: 108,986,497 H109L probably benign Het
Virma T G 4: 11,513,319 L391R possibly damaging Het
Vmn1r60 T A 7: 5,545,099 M1L probably benign Het
Vmn2r76 T C 7: 86,229,934 H386R probably benign Het
Zfp608 C T 18: 54,895,396 R1315Q probably benign Het
Zmym2 A G 14: 56,946,529 T983A probably benign Het
Zscan26 A G 13: 21,445,761 S65P probably benign Het
Other mutations in Npl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02511:Npl APN 1 153515481 missense probably damaging 0.99
R0131:Npl UTSW 1 153509118 nonsense probably null
R0131:Npl UTSW 1 153509118 nonsense probably null
R0132:Npl UTSW 1 153509118 nonsense probably null
R0479:Npl UTSW 1 153515409 missense probably damaging 0.98
R2369:Npl UTSW 1 153518877 splice site probably null
R3723:Npl UTSW 1 153515464 missense probably benign 0.22
R4655:Npl UTSW 1 153515406 missense probably damaging 1.00
R5088:Npl UTSW 1 153509144 missense possibly damaging 0.88
R5837:Npl UTSW 1 153503525 missense probably benign 0.00
R6010:Npl UTSW 1 153512568 nonsense probably null
R6301:Npl UTSW 1 153518881 critical splice donor site probably null
X0065:Npl UTSW 1 153537472 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGAGTGGTTTCTGAGTAAGAGC -3'
(R):5'- AATGGACAAGCGCCTGTCTC -3'

Sequencing Primer
(F):5'- TGCCCTTCCCCAGAGACAG -3'
(R):5'- AAGCGCCTGTCTCCCTCTG -3'
Posted On2016-12-20