Incidental Mutation 'IGL03132:Gm2a'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm2a
Ensembl Gene ENSMUSG00000000594
Gene NameGM2 ganglioside activator protein
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03132
Quality Score
Chromosomal Location55098115-55113029 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 55103648 bp
Amino Acid Change Isoleucine to Asparagine at position 48 (I48N)
Ref Sequence ENSEMBL: ENSMUSP00000000608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000608]
PDB Structure Crystal Structure of mouse GM2- activator Protein [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000000608
AA Change: I48N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000608
Gene: ENSMUSG00000000594
AA Change: I48N

signal peptide 1 20 N/A INTRINSIC
Pfam:E1_DerP2_DerF2 33 190 5.6e-37 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 encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal accumulation of glycolipid and ganglioside in various brain regions with impaired balance, coordination, and learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 G A 6: 88,838,959 R177C probably benign Het
Adam21 C A 12: 81,560,374 G205* probably null Het
Baz2b T A 2: 59,907,753 probably benign Het
Col6a3 C T 1: 90,803,893 G939D probably damaging Het
Csf1r A G 18: 61,128,099 E749G probably benign Het
Dnm3 C T 1: 162,011,105 probably null Het
Dsg3 A G 18: 20,524,596 D241G probably damaging Het
Dst T C 1: 34,256,641 S6015P probably benign Het
Dvl2 T C 11: 70,005,688 S183P probably benign Het
Exoc6b T C 6: 84,791,264 N699S possibly damaging Het
Fat2 T C 11: 55,253,920 R4043G probably benign Het
Gbp9 T A 5: 105,084,953 T278S possibly damaging Het
Gorasp2 T C 2: 70,684,035 V232A probably benign Het
Gpa33 G A 1: 166,152,649 D94N probably benign Het
Il1rap A T 16: 26,680,119 S123C probably damaging Het
Kctd17 T C 15: 78,435,687 S102P probably damaging Het
Lamb1 A G 12: 31,300,334 probably null Het
Mfsd1 T A 3: 67,587,940 I131K possibly damaging Het
Pkhd1l1 G A 15: 44,574,617 C3576Y probably damaging Het
Pla2g4a A T 1: 149,902,284 probably benign Het
Ptpn11 T A 5: 121,134,815 D575V possibly damaging Het
Reck A T 4: 43,938,898 R755* probably null Het
Scgb2b21 A G 7: 33,519,874 V35A possibly damaging Het
Srpr G A 9: 35,214,278 probably null Het
Stk11ip T C 1: 75,536,089 S1025P probably benign Het
Tmprss9 G A 10: 80,894,865 V742M probably damaging Het
Trh T C 6: 92,243,774 T36A probably benign Het
Trim35 A G 14: 66,309,146 E454G probably damaging Het
Vmn2r99 C T 17: 19,378,223 Q170* probably null Het
Other mutations in Gm2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0550:Gm2a UTSW 11 55103665 nonsense probably null
R6829:Gm2a UTSW 11 55103750 critical splice donor site probably null
Posted On2016-08-02