Incidental Mutation 'R8497:Neu3'
ID 668202
Institutional Source Beutler Lab
Gene Symbol Neu3
Ensembl Gene ENSMUSG00000035239
Gene Name neuraminidase 3
Synonyms ganglioside sialidase, membrane sialidase
MMRRC Submission 067939-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R8497 (G1)
Quality Score 123.094
Status Validated
Chromosome 7
Chromosomal Location 99811439-99828417 bp(-) (GRCm38)
Type of Mutation splice site (187 bp from exon)
DNA Base Change (assembly) A to T at 99823135 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036331]
AlphaFold Q9JMH7
Predicted Effect probably null
Transcript: ENSMUST00000036331
SMART Domains Protein: ENSMUSP00000045222
Gene: ENSMUSG00000035239

DomainStartEndE-ValueType
Pfam:BNR_2 36 382 6.2e-40 PFAM
Meta Mutation Damage Score 0.6718 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased colon carcinogenesis induced by azoxymethane and dextran sodium sulfate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,945,850 H509Y probably benign Het
Afm A T 5: 90,551,343 probably null Het
Apc G A 18: 34,313,030 C975Y possibly damaging Het
Ash1l G T 3: 89,007,644 M1860I probably benign Het
Bdkrb1 C T 12: 105,604,204 Q10* probably null Het
Bphl A G 13: 34,037,723 K21E possibly damaging Het
Cadps2 T C 6: 23,355,919 N837D probably benign Het
Cat C G 2: 103,456,876 A470P probably damaging Het
Ccdc129 A T 6: 55,898,194 R376S probably benign Het
Cdc34 G T 10: 79,685,011 D11Y probably damaging Het
Cep290 A G 10: 100,551,458 E1936G probably damaging Het
Cnot6 A T 11: 49,675,364 N501K possibly damaging Het
Cyth3 A C 5: 143,692,573 D44A probably benign Het
Dchs1 C T 7: 105,758,961 G1888D probably damaging Het
Fam160a2 G T 7: 105,381,189 D820E probably damaging Het
Ffar1 T G 7: 30,860,909 I188L probably benign Het
Gm10696 T A 3: 94,175,812 I231F possibly damaging Het
Gpr17 A G 18: 31,947,120 Y297H probably damaging Het
H2-M10.5 A C 17: 36,773,837 E151A probably damaging Het
Hmcn1 C T 1: 150,580,239 R5310K probably benign Het
Hmcn2 T C 2: 31,423,345 L3522P possibly damaging Het
Hs2st1 T G 3: 144,434,691 T290P probably damaging Het
Il5ra G A 6: 106,738,105 L231F probably benign Het
Itgav T A 2: 83,785,461 C529S probably damaging Het
Lrrcc1 A G 3: 14,539,984 D138G possibly damaging Het
Mat1a C T 14: 41,121,894 R357W probably damaging Het
Mmp1a TG TGG 9: 7,465,083 probably null Het
Mtss1l T C 8: 110,738,590 V492A possibly damaging Het
Nalcn A G 14: 123,515,359 V330A probably damaging Het
Nfx1 A G 4: 40,976,968 D214G possibly damaging Het
Olfr1306 T A 2: 111,912,619 I104F possibly damaging Het
Olfr1390 G A 11: 49,340,894 D121N probably damaging Het
Olfr1457 T C 19: 13,095,343 T102A probably benign Het
Olfr237-ps1 T C 6: 43,153,884 L193P probably damaging Het
Pcdhb14 A T 18: 37,449,296 H485L probably benign Het
Pdss2 A C 10: 43,413,525 K342T possibly damaging Het
Ppargc1a A G 5: 51,490,228 S254P probably damaging Het
Prelid1 A G 13: 55,323,020 D87G probably damaging Het
Prkg1 C A 19: 31,302,309 C190F probably damaging Het
Psmb5 A G 14: 54,614,380 S116P possibly damaging Het
Rassf6 A G 5: 90,631,532 V14A possibly damaging Het
Ripk1 T C 13: 34,027,951 S415P probably damaging Het
Rnft1 A T 11: 86,495,306 K344* probably null Het
Sacs G A 14: 61,192,253 R587Q probably benign Het
Skp2 A T 15: 9,127,884 probably null Het
Spata31d1a T C 13: 59,701,174 K1047E possibly damaging Het
Szt2 G A 4: 118,388,321 T1098I possibly damaging Het
Tcf20 A G 15: 82,855,951 M433T probably benign Het
Tsen54 T C 11: 115,822,584 F438L probably damaging Het
Utp23 C T 15: 51,882,218 T144I probably damaging Het
Vmn2r105 T C 17: 20,234,872 M1V probably null Het
Wdfy4 C T 14: 32,966,399 V2926M probably damaging Het
Zfp407 T C 18: 84,559,896 K1031E probably damaging Het
Other mutations in Neu3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Neu3 APN 7 99813880 missense probably benign 0.00
IGL01338:Neu3 APN 7 99813422 missense probably damaging 1.00
IGL01530:Neu3 APN 7 99813746 missense probably benign 0.00
R0395:Neu3 UTSW 7 99813778 missense probably benign
R0519:Neu3 UTSW 7 99823317 splice site probably benign
R0555:Neu3 UTSW 7 99814183 missense probably damaging 1.00
R1659:Neu3 UTSW 7 99813433 missense probably damaging 0.99
R1706:Neu3 UTSW 7 99823356 missense probably damaging 0.99
R1893:Neu3 UTSW 7 99823420 missense possibly damaging 0.81
R2271:Neu3 UTSW 7 99813443 missense probably benign 0.00
R2472:Neu3 UTSW 7 99813407 missense probably damaging 1.00
R4962:Neu3 UTSW 7 99823408 missense probably damaging 1.00
R5589:Neu3 UTSW 7 99823429 missense probably benign 0.01
R5932:Neu3 UTSW 7 99813318 nonsense probably null
R6307:Neu3 UTSW 7 99813722 missense probably benign
R7072:Neu3 UTSW 7 99814197 nonsense probably null
R7099:Neu3 UTSW 7 99813820 missense possibly damaging 0.51
R7582:Neu3 UTSW 7 99813967 missense probably benign 0.02
R8057:Neu3 UTSW 7 99814228 missense probably benign 0.08
X0023:Neu3 UTSW 7 99813604 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTCTGAATGAACCAGAGGTC -3'
(R):5'- TCTGTACAGGTGACTCATCCC -3'

Sequencing Primer
(F):5'- ATGAACCAGAGGTCTTGGGCC -3'
(R):5'- AGGTGACTCATCCCAGATACGG -3'
Posted On 2021-04-28