Incidental Mutation 'R7990:Npl'
ID 651661
Institutional Source Beutler Lab
Gene Symbol Npl
Ensembl Gene ENSMUSG00000042684
Gene Name N-acetylneuraminate pyruvate lyase
Synonyms 0610033B02Rik
MMRRC Submission 046031-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.353) question?
Stock # R7990 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 153378762-153425460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 153413230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 29 (V29D)
Ref Sequence ENSEMBL: ENSMUSP00000037454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041874]
AlphaFold Q9DCJ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000041874
AA Change: V29D

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037454
Gene: ENSMUSG00000042684
AA Change: V29D

DomainStartEndE-ValueType
DHDPS 7 304 1.29e-72 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (50/50)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 89,970,549 (GRCm39) V28I probably damaging Het
Abcd4 G T 12: 84,651,162 (GRCm39) probably null Het
Alg2 T C 4: 47,472,308 (GRCm39) T167A probably damaging Het
Asap1 T C 15: 64,044,586 (GRCm39) probably null Het
Atad5 T A 11: 80,024,079 (GRCm39) C1730* probably null Het
Atp8b1 T C 18: 64,671,748 (GRCm39) T1092A possibly damaging Het
C130050O18Rik A G 5: 139,400,672 (GRCm39) T242A probably benign Het
Ccdc88c A G 12: 100,934,244 (GRCm39) V211A probably damaging Het
Ccnl1 A G 3: 65,854,314 (GRCm39) S436P possibly damaging Het
Cgnl1 T C 9: 71,632,547 (GRCm39) E268G probably damaging Het
Clca4b T G 3: 144,634,103 (GRCm39) D104A probably damaging Het
Col6a3 T G 1: 90,709,577 (GRCm39) K2480T unknown Het
Cryba1 T C 11: 77,614,411 (GRCm39) T21A possibly damaging Het
Csn1s1 C T 5: 87,827,912 (GRCm39) A259V possibly damaging Het
Dap3 A C 3: 88,835,814 (GRCm39) Y206* probably null Het
Etnppl T C 3: 130,424,308 (GRCm39) I360T possibly damaging Het
Gal3st3 A T 19: 5,352,617 (GRCm39) M15L probably benign Het
Gdf5 A G 2: 155,783,749 (GRCm39) V401A probably damaging Het
Gm1110 A G 9: 26,792,137 (GRCm39) S628P possibly damaging Het
Gm9493 A T 19: 23,597,397 (GRCm39) I98F possibly damaging Het
Grin2a T C 16: 9,397,040 (GRCm39) K1016E possibly damaging Het
Hdac9 T C 12: 34,265,452 (GRCm39) N850D probably benign Het
Itsn2 C A 12: 4,685,629 (GRCm39) L466I unknown Het
Jkampl T C 6: 73,446,528 (GRCm39) Y7C probably damaging Het
Kcnj16 C A 11: 110,915,886 (GRCm39) R183S probably damaging Het
Kcnk2 A C 1: 188,942,102 (GRCm39) L389R probably damaging Het
Kdm4c A C 4: 74,309,685 (GRCm39) K949N probably damaging Het
Kif3b G A 2: 153,159,383 (GRCm39) E395K probably benign Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Map3k1 A T 13: 111,892,696 (GRCm39) M853K probably benign Het
Metap1 T G 3: 138,186,526 (GRCm39) T68P probably benign Het
Mfsd11 T C 11: 116,750,323 (GRCm39) V114A possibly damaging Het
Mroh1 G A 15: 76,336,475 (GRCm39) R1566H probably damaging Het
Msh4 A T 3: 153,602,529 (GRCm39) M233K probably damaging Het
Ncor1 T G 11: 62,240,321 (GRCm39) probably null Het
Or1e29 C T 11: 73,667,497 (GRCm39) V219I probably benign Het
Osmr T C 15: 6,881,948 (GRCm39) I65M possibly damaging Het
Rabepk C T 2: 34,670,720 (GRCm39) V247I probably benign Het
Rere C T 4: 150,699,327 (GRCm39) P804S unknown Het
Rpgrip1 A T 14: 52,366,975 (GRCm39) Y265F possibly damaging Het
Slc10a1 T C 12: 81,000,554 (GRCm39) D315G probably benign Het
Smc5 A T 19: 23,213,246 (GRCm39) N555K probably benign Het
Spata17 T A 1: 186,872,592 (GRCm39) H26L unknown Het
Sphkap C T 1: 83,245,066 (GRCm39) D1518N probably damaging Het
Sult2a6 A T 7: 13,959,795 (GRCm39) M246K possibly damaging Het
Tmx2 A G 2: 84,506,480 (GRCm39) F71L probably damaging Het
Ush2a T A 1: 188,274,996 (GRCm39) L1823Q probably benign Het
Virma T A 4: 11,513,983 (GRCm39) D612E probably benign Het
Wdfy4 A T 14: 32,819,752 (GRCm39) L1484Q Het
Zan A G 5: 137,391,352 (GRCm39) S4711P unknown Het
Zdhhc1 A G 8: 106,203,001 (GRCm39) probably null Het
Zfp971 C T 2: 177,675,361 (GRCm39) T320I probably damaging 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
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
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'- AGTTATCCTAGCAGGCTCCTC -3'
(R):5'- GGAGTGGCCTCTACAACATAC -3'

Sequencing Primer
(F):5'- TAGCAGGCTCCTCCATGAC -3'
(R):5'- CTTGTGCATATTAGGCAAGCC -3'
Posted On 2020-09-15