Incidental Mutation 'IGL03143:Neu2'
ID410760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neu2
Ensembl Gene ENSMUSG00000079434
Gene Nameneuraminidase 2
SynonymsMSS, MTS, MBS, cystolic sialidase, brain sialidase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL03143
Quality Score
Status
Chromosome1
Chromosomal Location87509889-87597845 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 87596976 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 228 (E228*)
Ref Sequence ENSEMBL: ENSMUSP00000131409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070898] [ENSMUST00000163606] [ENSMUST00000164128] [ENSMUST00000165109] [ENSMUST00000166055] [ENSMUST00000166259] [ENSMUST00000172222]
Predicted Effect probably null
Transcript: ENSMUST00000070898
AA Change: E214*
SMART Domains Protein: ENSMUSP00000065439
Gene: ENSMUSG00000079434
AA Change: E214*

DomainStartEndE-ValueType
Pfam:BNR_2 32 345 4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163606
SMART Domains Protein: ENSMUSP00000127777
Gene: ENSMUSG00000079434

DomainStartEndE-ValueType
PDB:2F27|B 15 90 1e-31 PDB
SCOP:d1eur__ 19 90 1e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000164128
AA Change: E220*
SMART Domains Protein: ENSMUSP00000127913
Gene: ENSMUSG00000079434
AA Change: E220*

DomainStartEndE-ValueType
Pfam:BNR_2 38 351 1.3e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000165109
AA Change: E214*
SMART Domains Protein: ENSMUSP00000126509
Gene: ENSMUSG00000079434
AA Change: E214*

DomainStartEndE-ValueType
Pfam:BNR_2 32 345 4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166055
SMART Domains Protein: ENSMUSP00000132099
Gene: ENSMUSG00000079434

DomainStartEndE-ValueType
Pfam:BNR_2 32 110 8e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000166259
AA Change: E214*
SMART Domains Protein: ENSMUSP00000132513
Gene: ENSMUSG00000079434
AA Change: E214*

DomainStartEndE-ValueType
Pfam:BNR_2 32 345 4e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000172222
AA Change: E228*
SMART Domains Protein: ENSMUSP00000131409
Gene: ENSMUSG00000079434
AA Change: E228*

DomainStartEndE-ValueType
Pfam:BNR_2 46 359 1.2e-43 PFAM
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 belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 T G 9: 121,909,267 L236R probably damaging Het
Agbl1 C T 7: 76,420,045 Q442* probably null Het
Ahrr G A 13: 74,257,495 Q108* probably null Het
Ankrd23 T C 1: 36,531,645 probably benign Het
Art5 A G 7: 102,097,897 I225T probably damaging Het
Asxl3 T C 18: 22,522,974 V1347A probably benign Het
Birc6 A G 17: 74,598,999 M1326V possibly damaging Het
Bpifb6 A C 2: 153,902,735 N32T probably damaging Het
Brip1 T A 11: 86,061,827 T1043S possibly damaging Het
Cbx5 A T 15: 103,213,105 V35E probably damaging Het
Ccdc175 T A 12: 72,136,058 M396L probably benign Het
Ceacam3 G T 7: 17,158,120 E263* probably null Het
Cyp4a12a A G 4: 115,302,003 T157A probably benign Het
Derl3 T C 10: 75,894,490 V129A possibly damaging Het
Dnajb1 T C 8: 83,608,474 I48T probably damaging Het
Dopey2 G A 16: 93,759,655 E349K probably benign Het
E330009J07Rik A T 6: 40,422,894 probably benign Het
Fkbp10 A T 11: 100,422,754 I285F probably benign Het
Frrs1 A T 3: 116,899,187 T37S probably damaging Het
Gata2 A G 6: 88,204,695 Y377C probably damaging Het
Gm9789 T A 16: 89,157,995 probably benign Het
Itpkb T A 1: 180,333,368 V353D probably benign Het
Kcng4 T C 8: 119,625,770 E467G probably damaging Het
Kdm3a A T 6: 71,596,861 I906N probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lamc1 A T 1: 153,332,274 L89Q probably benign Het
Lef1 G T 3: 131,200,316 E314* probably null Het
Lpin3 T C 2: 160,903,598 probably benign Het
Mkl2 A G 16: 13,400,812 N452D possibly damaging Het
Naaladl1 C T 19: 6,114,866 T628I possibly damaging Het
Nell1 C T 7: 50,279,533 Q259* probably null Het
Olfr1051 T C 2: 86,276,236 N84D probably benign Het
Olfr1475 A T 19: 13,479,471 H242Q probably damaging Het
Olfr178 A G 16: 58,889,461 F253S probably damaging Het
Olfr935 T G 9: 38,995,436 probably benign Het
Osbpl6 T A 2: 76,548,372 D124E probably damaging Het
Palm T C 10: 79,816,783 probably benign Het
Parp8 C A 13: 116,910,961 probably benign Het
Pax7 A G 4: 139,829,487 probably benign Het
Pcnx3 G A 19: 5,685,395 R468W probably damaging Het
Pds5b T A 5: 150,779,257 V818D probably damaging Het
Piezo2 C T 18: 63,108,076 V694I probably damaging Het
Plk1 A G 7: 122,161,654 probably benign Het
Polb T C 8: 22,640,351 probably benign Het
Rad54b A G 4: 11,599,755 T320A probably damaging Het
Reg3b G A 6: 78,372,200 W103* probably null Het
Slc17a3 T G 13: 23,855,979 probably null Het
Snrnp200 C T 2: 127,230,042 probably benign Het
Stox2 T A 8: 47,193,804 H207L possibly damaging Het
Tbx15 A C 3: 99,352,198 M462L possibly damaging Het
Tcirg1 G A 19: 3,898,811 T458I probably damaging Het
Tnfrsf25 A G 4: 152,116,927 probably benign Het
Trank1 A G 9: 111,366,087 K1060E probably damaging Het
Ttc16 T C 2: 32,774,445 D3G possibly damaging Het
Vmn1r199 A C 13: 22,383,129 N155H probably damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Other mutations in Neu2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02476:Neu2 APN 1 87596952 missense probably damaging 1.00
R0083:Neu2 UTSW 1 87597262 missense probably damaging 1.00
R0097:Neu2 UTSW 1 87597466 missense probably benign
R0097:Neu2 UTSW 1 87597466 missense probably benign
R1109:Neu2 UTSW 1 87596728 missense probably damaging 1.00
R1921:Neu2 UTSW 1 87597301 missense probably benign 0.02
R2897:Neu2 UTSW 1 87595060 missense probably benign 0.01
R2898:Neu2 UTSW 1 87595060 missense probably benign 0.01
R5395:Neu2 UTSW 1 87596675 unclassified probably null
R5867:Neu2 UTSW 1 87596756 missense probably damaging 0.96
R5868:Neu2 UTSW 1 87596756 missense probably damaging 0.96
R6468:Neu2 UTSW 1 87596878 missense probably damaging 1.00
R6544:Neu2 UTSW 1 87596742 missense probably damaging 1.00
R6610:Neu2 UTSW 1 87596685 missense probably benign 0.01
R6831:Neu2 UTSW 1 87596733 missense probably damaging 1.00
R7151:Neu2 UTSW 1 87596575 missense probably benign 0.04
Posted On2016-08-02